Hereditary Paraganglioma-Pheochromocytoma Syndromes disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials\nCategories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Genetic diseases\nAliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nMalaCards integrated aliases for Hereditary Paraganglioma-Pheochromocytoma Syndromes:\nName: Hereditary Paraganglioma-Pheochromocytoma Syndromes 24 25 29 6\nHereditary Pheochromocytoma-Paraganglioma 53 25 59\nHereditary Paraganglioma-Pheochromocytoma 53 25\nFamilial Pheochromocytoma-Paraganglioma 53 59\nParagangliomas 4 25 73\nParagangliomas 2 25 73\nParagangliomas 3 25 73\nFamilial Paraganglioma-Pheochromocytoma Syndromes 25\nHereditary Paragangliomas and Pheochromocytomas 6\nSdhx-Related Paraganglioma-Pheochromocytoma 53\nFamilial Nonchromaffin Paragangliomas 24\nFamilial Paraganglioma Syndrome 25\nFamilial Glomus Tumors 24\nParagangliomas 1 25\nPenetrance Age-related penetrance. pathogenic variants in the genes encoding the subunits of sdh appear to have a high but age-related penetrance (table 3). data, however, are limited [neumann et al 2004, benn et al 2006, jafri et al 2013]...\nBenign neoplasm: Aortic body and other paraganglia\nMalignant neoplasm: Aortic body and other paraganglia\nOrphanet 59 ORPHA29072\nICD10 via Orphanet 34 C74.1 C75.5 D35.0 D35.6 more\nSNOMED-CT via HPO 69 29738008 197661001 82646005 44057004 69278003 34436003 53298000 398979000 6962006 95664006 26079004 230706003 274100004 302912005 47004009 42343007 84114007 161832001 262285001 89362005 80313002 422587007 166702002 66931009 41607009 702391001 302835009 399343007 85583005 232322006 312935003 103290003 11092001 248274002 84229001 29857009 more\nUMLS 73 C1866552 C1854336 C1861848\nSummaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nNIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 29072Disease definitionHereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).EpidemiologyHereditary PGL/PCCs represent 30% of all PGL/PCC, for which prevalence is around 1/500,000 for PCC and 1/1,000,000 for PGL.Clinical descriptionPGL can be either hypersecreting (catecholamines) or non-secreting and PCCs usually secrete catecholamines. Secreting (sympathetic) PGLs are predominantly found in the thoracic, abdominal and pelvic areas. Hypersecretion manifests as sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Urinary bladder PGL may be revealed by painless hematuria and blood pressure increase after micturition. Non-secreting (parasympathetic) PGLs are predominantly located in the head and neck and present as enlarging masses that may be asymptomatic or may be associated with unilateral hearing loss, pulsatile tinnitus, cough, hoarseness of voice, pharyngeal fullness, swallowing difficulty, pain and/or problems with tongue motion. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Gastric stromal tumors and renal cancers are rarely associated.EtiologyUp to 10% of genetically determined PCC/PGLs are due to a SDHx germline mutation. Hereditary PCC/PGLs are caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant but associated with maternal genomic imprinting for SDHD and SDHAF2 and expressed when the mutation is inherited from the father. Penetrance depends on the gene, age and tumor sites. Tumors in patients with SDHB mutations are more likely to become malignant than those in patients with other SDHx mutations.Diagnostic methodsDiagnosis is based on clinical examination and family history. Young age at onset, presence of bilateral, extra-adrenal or multiple tumors, or malignancy suggest an inherited disorder. Imaging studies (MRI, CT) are used to detect tumors and may include functional imaging (scintigraphy, PET). Biochemical testing includes plasma free metanephrines and/or 24 hour-urinary fractionated metanephrines. Molecular genetic testing confirms the diagnosis.Differential diagnosisDifferential diagnoses include non-hereditary PCC/PGL (although hereditary PCC/PGL tends to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms), PCC/PGL associated with other hereditary conditions (neurofibromatosis type 1, von Hippel-Lindau syndrome, multiple endocrine neoplasia type 2, Carney triad and Carney-Stratakis syndrome; see these terms) and familial PCC due to TMEM127 mutation.Antenatal diagnosisPrenatal testing is not recommended. Presymptomatic testing is proposed in at-risk children from 6 years of age.Management and treatmentTreatment for secreting tumors involves blood pressure control with alpha-blockers followed by surgery by specialized teams. If the tumors have not metastasized, surgical resection can be curative. Follow-up is required due to the risk of recurrence and malignancy in particular for SDHB mutation-carriers. For head and neck PGL, external radiotherapy can be proposed. When metastases have occurred, other treatment options including chemotherapy and targeted radiotherapy should be proposed.PrognosisThe disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more.Visit the Orphanet disease page for more resources.\nMalaCards based summary : Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary pheochromocytoma-paraganglioma, is related to paragangliomas 1 and paraganglioma, and has symptoms including aphonia An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is MAX (MYC Associated Factor X), and among its related pathways/superpathways are Pathways in cancer and Glucose / Energy Metabolism. Affiliated tissues include testes, tongue and adrenal gland, and related phenotypes are extraadrenal pheochromocytoma and adrenal pheochromocytoma\nGenetics Home Reference : 25 Hereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas.\nRelated Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nDiseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:\n1 paragangliomas 1 31.9 SDHB SDHC SDHD TIMM8B\n2 paraganglioma 27.0 MAX RET SDHA SDHAF2 SDHB SDHC\n3 pheochromocytoma 26.8 FH KIF1B MAX RET SDHA SDHAF2\n4 acromegaly 11.3\n5 paragangliomas 4 11.3\n6 paragangliomas 2 11.3\n7 paragangliomas 3 11.3\n8 cowden syndrome 3 10.5 SDHD TIMM8B\n9 glomus tumor 10.3 SDHB SDHD\n10 chondroma 10.3 SDHB SDHC SDHD\n11 lymphatic system disease 10.2 SDHB SDHC SDHD\n12 multiple endocrine neoplasia, type iia 10.1 RET SDHB SDHD\n13 hereditary leiomyomatosis and renal cell cancer 10.1 FH SDHB\n14 extra-adrenal pheochromocytoma 10.1 SDHAF2 SDHB SDHC SDHD\n15 multiple endocrine neoplasia, type i 10.0 RET SDHB SDHD\n16 renal oncocytoma 10.0 MAX SDHB\n17 bone disease 10.0\n18 paraganglioma and gastric stromal sarcoma 9.9 SDHB SDHC SDHD TIMM8B\n19 fumarate hydratase deficiency 9.9 FH VHL\n20 cowden disease 9.8 RET SDHB SDHC SDHD\n21 endocrine gland cancer 9.8 RET SDHB SDHC SDHD\n22 seminal vesicle tumor 9.8 SDHA SDHB\n23 aging 9.8\n24 familial renal papillary carcinoma 9.6 FH RET\n25 adrenal medulla cancer 9.6 RET SDHAF2 SDHB SDHC SDHD\n26 multiple endocrine neoplasia 9.6 RET SDHB SDHC VHL\n27 carney triad 9.3 SDHA SDHB SDHC SDHD\n28 neurofibromatosis, type iv, of riccardi 9.3 RET SDHB SDHC SDHD VHL\n29 von hippel-lindau syndrome 9.3 RET SDHB SDHC SDHD VHL\n30 gastrointestinal stromal tumor 9.3 SDHA SDHB SDHC SDHD\n31 neural crest tumor 9.1 SDHA SDHAF2 SDHB SDHC SDHD\n32 mitochondrial complex ii deficiency 9.1 SDHA SDHAF2 SDHB SDHC SDHD\n33 sporadic pheochromocytoma 9.1 MAX RET SDHB SDHC SDHD VHL\n34 persistent generalized lymphadenopathy 8.9 SDHA SDHAF2 SDHB SDHC SDHD TMEM127\n35 lymph node disease 8.8 SDHA SDHAF2 SDHB SDHC SDHD TMEM127\n36 phaeochromocytoma 8.8 RET SDHAF2 SDHB SDHC SDHD TMEM127\nGraphical network of the top 20 diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:\nSymptoms & Phenotypes for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nHuman phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:\n59 32 (showing 41, show less)\n1 extraadrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006737\n2 adrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006748\n3 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093\n4 glomerulosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0000096\n5 episodic paroxysmal anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000740\n6 episodic hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001069\n7 hypertensive retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001095\n8 cerebral hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001342\n9 dysphonia 59 32 frequent (33%) Frequent (79-30%) HP:0001618\n10 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824\n11 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962\n12 nausea 59 32 frequent (33%) Frequent (79-30%) HP:0002018\n13 recurrent paroxysmal headache 59 32 frequent (33%) Frequent (79-30%) HP:0002331\n14 episodic abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002574\n15 paraganglioma of head and neck 59 32 frequent (33%) Frequent (79-30%) HP:0002864\n17 elevated urinary norepinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003345\n18 positive regitine blocking test 59 32 frequent (33%) Frequent (79-30%) HP:0003574\n19 elevated urinary epinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003639\n20 pulsatile tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0008629\n21 paroxysmal vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0010532\n22 sinus tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0011703\n23 elevated urinary dopamine 59 32 frequent (33%) Frequent (79-30%) HP:0011979\n24 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378\n25 flushing 59 32 frequent (33%) Frequent (79-30%) HP:0031284\n26 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749\n27 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405\n28 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790\n29 pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000980\n30 cranial nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0001293\n31 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337\n32 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605\n33 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635\n34 elevated calcitonin 59 32 occasional (7.5%) Occasional (29-5%) HP:0003528\n35 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584\n36 retinal capillary hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009711\n37 arachnoid hemangiomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012222\n38 panic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0025269\n39 aniridia 59 32 very rare (1%) Very rare (<4-1%) HP:0000526\n40 paraganglioma 59 Very frequent (99-80%)\n41 hypertension associated with pheochromocytoma 59 Frequent (79-30%)\nUMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:\nGenomeRNAi Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:\n26 (showing 8, show less)\nDrugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nSearch NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nGenetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nGenetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:\n1 Hereditary Paraganglioma-Pheochromocytoma Syndromes 29 MAX\nAnatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nMalaCards organs/tissues related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:\nTestes, Tongue, Adrenal Gland, Kidney, Heart, Bone\nPublications for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nArticles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:\nThe utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )\nUdager A.M....Mehra R.\nThe Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste-Reply. ( 28837712 )\nIkoma N....Roland C.L.\nMultimodality Radionuclide Imaging in a Patient With Hereditary Paraganglioma-Pheochromocytoma Syndrome. ( 28902732 )\nYim S.Y....Halkar R.K.\nThe Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste. ( 28837713 )\nHall M.J....Obeid E.\nPalliation of Extensive Metastatic Bone Disease With 223Ra-Dichloride I+-Particle Therapy in a Patient With Malignant Hereditary Paraganglioma-Pheochromocytoma Syndrome With SDHB Mutation. ( 26359562 )\nMakis W....Sawyer M.B.\nCombined Treatment With 131I-MIBG and Sunitinib Induces Remission in a Patient With Metastatic Paraganglioma Due to Hereditary Paraganglioma-Pheochromocytoma Syndrome From an SDHB Mutation. ( 26359568 )\nHereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. ( 24375508 )\nChoi J.D....Chong G.C.\nHereditary Paraganglioma-Pheochromocytoma Syndromes ( 20301715 )\nGenes for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nGenes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes (12 elite genes):\nMYC Associated Factor X Protein Coding 869.48\nSuccinate Dehydrogenase Complex Iron Sulfur Subunit B Protein Coding 794.6\nSuccinate Dehydrogenase Complex Subunit C Protein Coding 793.56\nSuccinate Dehydrogenase Complex Subunit D Protein Coding 778.48\nSuccinate Dehydrogenase Complex Assembly Factor 2 Protein Coding 769.51\nTransmembrane Protein 127 Protein Coding 469.75\nVon Hippel-Lindau Tumor Suppressor Protein Coding 350\nKinesin Family Member 1B Protein Coding 350\nFumarate Hydratase Protein Coding 350\nMalate Dehydrogenase 2 Protein Coding 350\nRet Proto-Oncogene Protein Coding 42.35\nCytosolic Iron-Sulfur Assembly Component 1 Protein Coding 19.15 GeneCards inferred via :\nCleavage And Polyadenylation Specific Factor 7 Protein Coding 8.8 GeneCards inferred via :\nTranslocase Of Inner Mitochondrial Membrane 8 Homolog B Protein Coding 8.66 GeneCards inferred via :\nUncharacterized LOC100506321 RNA Gene 8.45 GeneCards inferred via :\nVariations for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nClinVar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:\n(showing 547, show less)\n1 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh37 Chromosome 11, 61205292: 61205292\n2 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh38 Chromosome 11, 61437820: 61437820\n3 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640\n4 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916\n5 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663\n6 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939\n7 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695\n8 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971\n9 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555\n10 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh38 Chromosome 11, 112094831: 112094831\n11 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623\n12 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh38 Chromosome 11, 112087899: 112087899\n13 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh37 Chromosome 11, 111957634: 111957634\n14 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh38 Chromosome 11, 112086910: 112086910\n15 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh37 Chromosome 11, 111965630: 111965630\n16 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh38 Chromosome 11, 112094906: 112094906\n17 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861\n18 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585\n19 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631\n20 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh38 Chromosome 1, 161356841: 161356841\n21 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573\n22 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh38 Chromosome 1, 17033078: 17033078\n23 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520\n24 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh38 Chromosome 1, 17024025: 17024025\n25 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143\n26 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh38 Chromosome 1, 17022648: 17022648\n27 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377\n28 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh38 Chromosome 1, 17044882: 17044882\n29 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100\n30 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh38 Chromosome 1, 17028605: 17028605\n31 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh37 Chromosome 11, 111959705: 111959705\n32 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh38 Chromosome 11, 112088981: 112088981\n33 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs387906650 GRCh37 Chromosome 14, 65544703: 65544703\n34 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs387906650 GRCh38 Chromosome 14, 65077985: 65077985\n35 MAX NM_002382.4(MAX): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs387906651 GRCh37 Chromosome 14, 65560500: 65560500\n36 MAX NM_002382.4(MAX): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs387906651 GRCh38 Chromosome 14, 65093782: 65093782\n37 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094\n38 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh38 Chromosome 1, 17028599: 17028599\n39 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426\n40 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh38 Chromosome 1, 161323636: 161323636\n41 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232\n42 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh38 Chromosome 1, 17028737: 17028737\n43 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510\n44 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015\n45 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh37 Chromosome 2, 96920712: 96920715\n46 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh38 Chromosome 2, 96254974: 96254977\n47 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553\n48 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058\n49 SDHB NM_003000.2(SDHB): c.575G> A (p.Cys192Tyr) single nucleotide variant Pathogenic rs397516835 GRCh37 Chromosome 1, 17350535: 17350535\n50 SDHB NM_003000.2(SDHB): c.575G> A (p.Cys192Tyr) single nucleotide variant Pathogenic rs397516835 GRCh38 Chromosome 1, 17024040: 17024040\n51 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179\n52 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic rs587782604 GRCh38 Chromosome 1, 17022684: 17022684\n53 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320\n54 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825\n55 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442\n56 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh38 Chromosome 1, 17053947: 17053947\n57 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh37 Chromosome 11, 111965693: 111965693\n58 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh38 Chromosome 11, 112094969: 112094969\n59 SDHB NM_003000.2(SDHB): c.277T> C (p.Cys93Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs727503415 GRCh37 Chromosome 1, 17359564: 17359564\n60 SDHB NM_003000.2(SDHB): c.277T> C (p.Cys93Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs727503415 GRCh38 Chromosome 1, 17033069: 17033069\n61 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Likely pathogenic rs727504457 GRCh37 Chromosome 1, 17359581: 17359581\n62 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Likely pathogenic rs727504457 GRCh38 Chromosome 1, 17033086: 17033086\n63 TMEM127 NM_017849.3(TMEM127): c.308delG (p.Gly103Alafs) deletion Likely pathogenic rs727503490 GRCh37 Chromosome 2, 96920672: 96920672\n64 TMEM127 NM_017849.3(TMEM127): c.308delG (p.Gly103Alafs) deletion Likely pathogenic rs727503490 GRCh38 Chromosome 2, 96254934: 96254934\n65 SDHD NM_003002.3(SDHD): c.*(?_286)_*(387_?)del deletion Likely pathogenic GRCh37 Chromosome 11, 111965980: 111966081\n66 SDHD NM_003002.3(SDHD): c.*(?_286)_*(387_?)del deletion Likely pathogenic GRCh38 Chromosome 11, 112095256: 112095357\n67 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622\n68 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh38 Chromosome 1, 161356832: 161356832\n69 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh37 Chromosome 1, 17349180: 17349180\n70 SDHB NM_003000.2(SDHB): c.688C> T (p.Arg230Cys) single nucleotide variant Pathogenic rs138996609 GRCh38 Chromosome 1, 17022685: 17022685\n71 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510\n72 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015\n73 SDHB NM_003000.2(SDHB): c.574T> C (p.Cys192Arg) single nucleotide variant Pathogenic rs786202732 GRCh38 Chromosome 1, 17024041: 17024041\n74 SDHB NM_003000.2(SDHB): c.574T> C (p.Cys192Arg) single nucleotide variant Pathogenic rs786202732 GRCh37 Chromosome 1, 17350536: 17350536\n75 SDHB NM_003000.2(SDHB): c.541-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs786201161 GRCh37 Chromosome 1, 17350571: 17350571\n76 SDHB NM_003000.2(SDHB): c.541-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs786201161 GRCh38 Chromosome 1, 17024076: 17024076\n77 SDHB NM_003000.2(SDHB): c.286+1G> A single nucleotide variant Likely pathogenic rs786201063 GRCh37 Chromosome 1, 17359554: 17359554\n78 SDHB NM_003000.2(SDHB): c.286+1G> A single nucleotide variant Likely pathogenic rs786201063 GRCh38 Chromosome 1, 17033059: 17033059\n79 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs772551056 GRCh37 Chromosome 1, 17371319: 17371319\n80 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs772551056 GRCh38 Chromosome 1, 17044824: 17044824\n81 SDHB NM_003000.2(SDHB): c.88delC (p.Gln30Argfs) deletion Pathogenic rs747198089 GRCh37 Chromosome 1, 17371368: 17371368\n82 SDHB NM_003000.2(SDHB): c.88delC (p.Gln30Argfs) deletion Pathogenic rs747198089 GRCh38 Chromosome 1, 17044873: 17044873\n83 SDHB NM_003000.2(SDHB): c.26T> A (p.Leu9Ter) single nucleotide variant Pathogenic rs786203800 GRCh37 Chromosome 1, 17380489: 17380489\n84 SDHB NM_003000.2(SDHB): c.26T> A (p.Leu9Ter) single nucleotide variant Pathogenic rs786203800 GRCh38 Chromosome 1, 17053994: 17053994\n85 TMEM127 NM_017849.3(TMEM127): c.565C> T (p.Leu189=) single nucleotide variant Benign/Likely benign rs146965678 GRCh37 Chromosome 2, 96919698: 96919698\n86 TMEM127 NM_017849.3(TMEM127): c.565C> T (p.Leu189=) single nucleotide variant Benign/Likely benign rs146965678 GRCh38 Chromosome 2, 96253960: 96253960\n87 TMEM127 NM_017849.3(TMEM127): c.394G> A (p.Ala132Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs750870974 GRCh37 Chromosome 2, 96920586: 96920586\n88 TMEM127 NM_017849.3(TMEM127): c.394G> A (p.Ala132Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs750870974 GRCh38 Chromosome 2, 96254848: 96254848\n89 TMEM127 NM_017849.3(TMEM127): c.324C> T (p.Leu108=) single nucleotide variant Likely benign rs148381232 GRCh37 Chromosome 2, 96920656: 96920656\n90 TMEM127 NM_017849.3(TMEM127): c.324C> T (p.Leu108=) single nucleotide variant Likely benign rs148381232 GRCh38 Chromosome 2, 96254918: 96254918\n91 TMEM127 NM_017849.3(TMEM127): c.288C> T (p.Ile96=) single nucleotide variant Conflicting interpretations of pathogenicity rs758726687 GRCh37 Chromosome 2, 96920692: 96920692\n92 TMEM127 NM_017849.3(TMEM127): c.288C> T (p.Ile96=) single nucleotide variant Conflicting interpretations of pathogenicity rs758726687 GRCh38 Chromosome 2, 96254954: 96254954\n93 TMEM127 NM_017849.3(TMEM127): c.253A> G (p.Met85Val) single nucleotide variant Uncertain significance rs771261665 GRCh37 Chromosome 2, 96920727: 96920727\n94 TMEM127 NM_017849.3(TMEM127): c.253A> G (p.Met85Val) single nucleotide variant Uncertain significance rs771261665 GRCh38 Chromosome 2, 96254989: 96254989\n95 SDHD NM_003002.3(SDHD): c.298_301delACTC (p.Thr100Phefs) deletion Pathogenic rs786203067 GRCh37 Chromosome 11, 111959719: 111959722\n96 SDHD NM_003002.3(SDHD): c.298_301delACTC (p.Thr100Phefs) deletion Pathogenic rs786203067 GRCh38 Chromosome 11, 112088995: 112088998\n97 MAX NM_002382.4(MAX): c.279T> C (p.Ala93=) single nucleotide variant Likely benign rs145370107 GRCh37 Chromosome 14, 65544647: 65544647\n98 MAX NM_002382.4(MAX): c.279T> C (p.Ala93=) single nucleotide variant Likely benign rs145370107 GRCh38 Chromosome 14, 65077929: 65077929\n99 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh37 Chromosome 1, 17355175: 17355175\n100 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh38 Chromosome 1, 17028680: 17028680\n101 SDHB NM_003000.2(SDHB): c.526G> T (p.Glu176Ter) single nucleotide variant Pathogenic rs794728946 GRCh37 Chromosome 1, 17354258: 17354258\n102 SDHB NM_003000.2(SDHB): c.526G> T (p.Glu176Ter) single nucleotide variant Pathogenic rs794728946 GRCh38 Chromosome 1, 17027763: 17027763\n103 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh37 Chromosome 1, 17350523: 17350523\n104 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh38 Chromosome 1, 17024028: 17024028\n105 SDHB NM_003000.2(SDHB): c.566G> T (p.Cys189Phe) single nucleotide variant Likely pathogenic rs876658540 GRCh37 Chromosome 1, 17350544: 17350544\n106 SDHB NM_003000.2(SDHB): c.566G> T (p.Cys189Phe) single nucleotide variant Likely pathogenic rs876658540 GRCh38 Chromosome 1, 17024049: 17024049\n107 SDHB NM_003000.2(SDHB): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs876658451 GRCh37 Chromosome 1, 17354339: 17354339\n108 SDHB NM_003000.2(SDHB): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs876658451 GRCh38 Chromosome 1, 17027844: 17027844\n109 SDHB NM_003000.2(SDHB): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs373976827 GRCh37 Chromosome 1, 17371376: 17371376\n110 SDHB NM_003000.2(SDHB): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs373976827 GRCh38 Chromosome 1, 17044881: 17044881\n111 SDHAF2 NM_017841.2(SDHAF2): c.205C> T (p.Arg69Cys) single nucleotide variant Uncertain significance rs532255760 GRCh37 Chromosome 11, 61205265: 61205265\n112 SDHAF2 NM_017841.2(SDHAF2): c.205C> T (p.Arg69Cys) single nucleotide variant Uncertain significance rs532255760 GRCh38 Chromosome 11, 61437793: 61437793\n113 MAX NM_002382.4(MAX): c.467G> A (p.Arg156Gln) single nucleotide variant Uncertain significance rs876659544 GRCh37 Chromosome 14, 65543210: 65543210\n114 MAX NM_002382.4(MAX): c.467G> A (p.Arg156Gln) single nucleotide variant Uncertain significance rs876659544 GRCh38 Chromosome 14, 65076492: 65076492\n115 MAX NM_002382.4(MAX): c.41A> G (p.Glu14Gly) single nucleotide variant Uncertain significance rs876660888 GRCh37 Chromosome 14, 65568286: 65568286\n116 MAX NM_002382.4(MAX): c.41A> G (p.Glu14Gly) single nucleotide variant Uncertain significance rs876660888 GRCh38 Chromosome 14, 65101568: 65101568\n117 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh37 Chromosome 1, 17359570: 17359570\n118 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh38 Chromosome 1, 17033075: 17033075\n119 TMEM127 NM_017849.3(TMEM127): c.-131-?_*3600del deletion Pathogenic GRCh38 Chromosome 2, 96250208: 96265512\n120 TMEM127 NM_017849.3(TMEM127): c.-131-?_*3600del deletion Pathogenic GRCh37 Chromosome 2, 96915946: 96931250\n121 TMEM127 NM_017849.3(TMEM127): c.619G> A (p.Ala207Thr) single nucleotide variant Uncertain significance rs756818796 GRCh38 Chromosome 2, 96253906: 96253906\n122 TMEM127 NM_017849.3(TMEM127): c.619G> A (p.Ala207Thr) single nucleotide variant Uncertain significance rs756818796 GRCh37 Chromosome 2, 96919644: 96919644\n123 TMEM127 NM_017849.3(TMEM127): c.534C> T (p.Tyr178=) single nucleotide variant Benign/Likely benign rs550833832 GRCh38 Chromosome 2, 96253991: 96253991\n124 TMEM127 NM_017849.3(TMEM127): c.534C> T (p.Tyr178=) single nucleotide variant Benign/Likely benign rs550833832 GRCh37 Chromosome 2, 96919729: 96919729\n125 TMEM127 NM_017849.3(TMEM127): c.494A> G (p.His165Arg) single nucleotide variant Uncertain significance rs752030320 GRCh38 Chromosome 2, 96254031: 96254031\n126 TMEM127 NM_017849.3(TMEM127): c.494A> G (p.His165Arg) single nucleotide variant Uncertain significance rs752030320 GRCh37 Chromosome 2, 96919769: 96919769\n127 TMEM127 NM_017849.3(TMEM127): c.409+7C> T single nucleotide variant Benign/Likely benign rs189327749 GRCh37 Chromosome 2, 96920564: 96920564\n128 TMEM127 NM_017849.3(TMEM127): c.409+7C> T single nucleotide variant Benign/Likely benign rs189327749 GRCh38 Chromosome 2, 96254826: 96254826\n129 TMEM127 NM_017849.3(TMEM127): c.292G> A (p.Ala98Thr) single nucleotide variant Uncertain significance rs369144563 GRCh37 Chromosome 2, 96920688: 96920688\n130 TMEM127 NM_017849.3(TMEM127): c.292G> A (p.Ala98Thr) single nucleotide variant Uncertain significance rs369144563 GRCh38 Chromosome 2, 96254950: 96254950\n131 TMEM127 NM_017849.3(TMEM127): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs752938517 GRCh38 Chromosome 2, 96254953: 96254953\n132 TMEM127 NM_017849.3(TMEM127): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs752938517 GRCh37 Chromosome 2, 96920691: 96920691\n133 TMEM127 NM_017849.3(TMEM127): c.53C> T (p.Pro18Leu) single nucleotide variant Benign/Likely benign rs377740271 GRCh38 Chromosome 2, 96265329: 96265329\n134 TMEM127 NM_017849.3(TMEM127): c.53C> T (p.Pro18Leu) single nucleotide variant Benign/Likely benign rs377740271 GRCh37 Chromosome 2, 96931067: 96931067\n135 SDHD NM_003002.3(SDHD): c.209G> A (p.Arg70Lys) single nucleotide variant Uncertain significance rs755047928 GRCh37 Chromosome 11, 111959630: 111959630\n136 SDHD NM_003002.3(SDHD): c.209G> A (p.Arg70Lys) single nucleotide variant Uncertain significance rs755047928 GRCh38 Chromosome 11, 112088906: 112088906\n137 SDHAF2 NM_017841.2(SDHAF2): c.36+10G> A single nucleotide variant Benign/Likely benign rs114207859 GRCh37 Chromosome 11, 61197664: 61197664\n138 SDHAF2 NM_017841.2(SDHAF2): c.36+10G> A single nucleotide variant Benign/Likely benign rs114207859 GRCh38 Chromosome 11, 61430192: 61430192\n139 SDHAF2 NM_017841.2(SDHAF2): c.63A> G (p.Leu21=) single nucleotide variant Benign/Likely benign rs191513932 GRCh38 Chromosome 11, 61437651: 61437651\n140 SDHAF2 NM_017841.2(SDHAF2): c.63A> G (p.Leu21=) single nucleotide variant Benign/Likely benign rs191513932 GRCh37 Chromosome 11, 61205123: 61205123\n141 SDHAF2 NM_017841.2(SDHAF2): c.239T> C (p.Leu80Ser) single nucleotide variant Uncertain significance rs376560419 GRCh38 Chromosome 11, 61437827: 61437827\n142 SDHAF2 NM_017841.2(SDHAF2): c.239T> C (p.Leu80Ser) single nucleotide variant Uncertain significance rs376560419 GRCh37 Chromosome 11, 61205299: 61205299\n143 SDHAF2 NM_017841.2(SDHAF2): c.490A> G (p.Lys164Glu) single nucleotide variant Uncertain significance rs150187184 GRCh38 Chromosome 11, 61446060: 61446060\n144 SDHAF2 NM_017841.2(SDHAF2): c.490A> G (p.Lys164Glu) single nucleotide variant Uncertain significance rs150187184 GRCh37 Chromosome 11, 61213532: 61213532\n145 MAX NM_002382.4(MAX): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs750459929 GRCh37 Chromosome 14, 65543280: 65543280\n146 MAX NM_002382.4(MAX): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs750459929 GRCh38 Chromosome 14, 65076562: 65076562\n147 MAX NM_002382.4(MAX): c.341A> C (p.Asn114Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs772912674 GRCh37 Chromosome 14, 65543336: 65543336\n148 MAX NM_002382.4(MAX): c.341A> C (p.Asn114Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs772912674 GRCh38 Chromosome 14, 65076618: 65076618\n149 MAX NM_002382.4(MAX): c.329A> C (p.Gln110Pro) single nucleotide variant Uncertain significance rs775808138 GRCh38 Chromosome 14, 65076630: 65076630\n150 MAX NM_002382.4(MAX): c.329A> C (p.Gln110Pro) single nucleotide variant Uncertain significance rs775808138 GRCh37 Chromosome 14, 65543348: 65543348\n151 MAX NM_002382.4(MAX): c.285G> A (p.Leu95=) single nucleotide variant Uncertain significance rs878854500 GRCh37 Chromosome 14, 65544641: 65544641\n152 MAX NM_002382.4(MAX): c.285G> A (p.Leu95=) single nucleotide variant Uncertain significance rs878854500 GRCh38 Chromosome 14, 65077923: 65077923\n153 MAX NM_002382.4(MAX): c.284T> C (p.Leu95Pro) single nucleotide variant Uncertain significance rs878854499 GRCh38 Chromosome 14, 65077924: 65077924\n154 MAX NM_002382.4(MAX): c.284T> C (p.Leu95Pro) single nucleotide variant Uncertain significance rs878854499 GRCh37 Chromosome 14, 65544642: 65544642\n155 TMEM127 NM_017849.3(TMEM127): c.464T> A (p.Leu155Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886039439 GRCh37 Chromosome 2, 96919799: 96919799\n156 TMEM127 NM_017849.3(TMEM127): c.464T> A (p.Leu155Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886039439 GRCh38 Chromosome 2, 96254061: 96254061\n157 SDHD NM_003002.3(SDHD): c.53dupC (p.Leu19Serfs) duplication Pathogenic rs886041237 GRCh37 Chromosome 11, 111958581: 111958581\n158 SDHD NM_003002.3(SDHD): c.53dupC (p.Leu19Serfs) duplication Pathogenic rs886041237 GRCh38 Chromosome 11, 112087857: 112087857\n159 TMEM127 NM_017849.3(TMEM127): c.281G> A (p.Arg94Gln) single nucleotide variant Uncertain significance rs746831347 GRCh37 Chromosome 2, 96920699: 96920699\n160 TMEM127 NM_017849.3(TMEM127): c.281G> A (p.Arg94Gln) single nucleotide variant Uncertain significance rs746831347 GRCh38 Chromosome 2, 96254961: 96254961\n161 MAX NM_002382.4(MAX): c.25G> T (p.Val9Leu) single nucleotide variant Uncertain significance rs201743423 GRCh38 Chromosome 14, 65102315: 65102315\n162 MAX NM_002382.4(MAX): c.25G> T (p.Val9Leu) single nucleotide variant Uncertain significance rs201743423 GRCh37 Chromosome 14, 65569033: 65569033\n163 TMEM127 NM_017849.3(TMEM127): c.117_120delGTCT (p.Ile41Argfs) deletion Pathogenic rs121908816 GRCh37 Chromosome 2, 96931000: 96931003\n164 TMEM127 NM_017849.3(TMEM127): c.117_120delGTCT (p.Ile41Argfs) deletion Pathogenic rs121908816 GRCh38 Chromosome 2, 96265262: 96265265\n165 SDHAF2 NM_017841.2(SDHAF2): c.355dupT (p.Tyr119Leufs) duplication Uncertain significance GRCh38 Chromosome 11, 61438098: 61438098\n166 SDHAF2 NM_017841.2(SDHAF2): c.355dupT (p.Tyr119Leufs) duplication Uncertain significance GRCh37 Chromosome 11, 61205570: 61205570\n167 SDHB NM_003000.2(SDHB): c.331_332delCT (p.Leu111Serfs) deletion Pathogenic rs1060503751 GRCh37 Chromosome 1, 17355186: 17355187\n168 SDHB NM_003000.2(SDHB): c.331_332delCT (p.Leu111Serfs) deletion Pathogenic rs1060503751 GRCh38 Chromosome 1, 17028691: 17028692\n169 TMEM127 NM_017849.3(TMEM127): c.666G> A (p.Ala222=) single nucleotide variant Likely benign rs772481029 GRCh37 Chromosome 2, 96919597: 96919597\n170 TMEM127 NM_017849.3(TMEM127): c.666G> A (p.Ala222=) single nucleotide variant Likely benign rs772481029 GRCh38 Chromosome 2, 96253859: 96253859\n171 TMEM127 NM_017849.3(TMEM127): c.600C> A (p.Pro200=) single nucleotide variant Likely benign rs1060503974 GRCh37 Chromosome 2, 96919663: 96919663\n172 TMEM127 NM_017849.3(TMEM127): c.600C> A (p.Pro200=) single nucleotide variant Likely benign rs1060503974 GRCh38 Chromosome 2, 96253925: 96253925\n173 TMEM127 NM_017849.3(TMEM127): c.522C> T (p.Ala174=) single nucleotide variant Likely benign rs367951215 GRCh37 Chromosome 2, 96919741: 96919741\n174 TMEM127 NM_017849.3(TMEM127): c.522C> T (p.Ala174=) single nucleotide variant Likely benign rs367951215 GRCh38 Chromosome 2, 96254003: 96254003\n175 TMEM127 NM_017849.3(TMEM127): c.408G> T (p.Thr136=) single nucleotide variant Uncertain significance rs143522428 GRCh37 Chromosome 2, 96920572: 96920572\n176 TMEM127 NM_017849.3(TMEM127): c.408G> T (p.Thr136=) single nucleotide variant Uncertain significance rs143522428 GRCh38 Chromosome 2, 96254834: 96254834\n177 TMEM127 NM_017849.3(TMEM127): c.213G> A (p.Val71=) single nucleotide variant Likely benign rs777169152 GRCh37 Chromosome 2, 96930907: 96930907\n178 TMEM127 NM_017849.3(TMEM127): c.213G> A (p.Val71=) single nucleotide variant Likely benign rs777169152 GRCh38 Chromosome 2, 96265169: 96265169\n179 TMEM127 NM_017849.3(TMEM127): c.665C> T (p.Ala222Val) single nucleotide variant Uncertain significance rs373951977 GRCh38 Chromosome 2, 96253860: 96253860\n180 TMEM127 NM_017849.3(TMEM127): c.665C> T (p.Ala222Val) single nucleotide variant Uncertain significance rs373951977 GRCh37 Chromosome 2, 96919598: 96919598\n181 TMEM127 NM_017849.3(TMEM127): c.228C> A (p.His76Gln) single nucleotide variant Uncertain significance rs1060500599 GRCh38 Chromosome 2, 96265154: 96265154\n182 TMEM127 NM_017849.3(TMEM127): c.228C> A (p.His76Gln) single nucleotide variant Uncertain significance rs1060500599 GRCh37 Chromosome 2, 96930892: 96930892\n183 TMEM127 NM_017849.3(TMEM127): c.80C> T (p.Pro27Leu) single nucleotide variant Uncertain significance rs983504110 GRCh38 Chromosome 2, 96265302: 96265302\n184 TMEM127 NM_017849.3(TMEM127): c.80C> T (p.Pro27Leu) single nucleotide variant Uncertain significance rs983504110 GRCh37 Chromosome 2, 96931040: 96931040\n185 TMEM127 NM_017849.3(TMEM127): c.671A> G (p.Tyr224Cys) single nucleotide variant Uncertain significance rs1060500598 GRCh37 Chromosome 2, 96919592: 96919592\n186 TMEM127 NM_017849.3(TMEM127): c.671A> G (p.Tyr224Cys) single nucleotide variant Uncertain significance rs1060500598 GRCh38 Chromosome 2, 96253854: 96253854\n187 TMEM127 NM_017849.3(TMEM127): c.620C> T (p.Ala207Val) single nucleotide variant Uncertain significance rs751044006 GRCh37 Chromosome 2, 96919643: 96919643\n188 TMEM127 NM_017849.3(TMEM127): c.620C> T (p.Ala207Val) single nucleotide variant Uncertain significance rs751044006 GRCh38 Chromosome 2, 96253905: 96253905\n189 TMEM127 NM_017849.3(TMEM127): c.573G> A (p.Thr191=) single nucleotide variant Likely benign rs147816248 GRCh37 Chromosome 2, 96919690: 96919690\n190 TMEM127 NM_017849.3(TMEM127): c.573G> A (p.Thr191=) single nucleotide variant Likely benign rs147816248 GRCh38 Chromosome 2, 96253952: 96253952\n191 TMEM127 NM_017849.3(TMEM127): c.550G> C (p.Gly184Arg) single nucleotide variant Uncertain significance rs1060500597 GRCh37 Chromosome 2, 96919713: 96919713\n192 TMEM127 NM_017849.3(TMEM127): c.550G> C (p.Gly184Arg) single nucleotide variant Uncertain significance rs1060500597 GRCh38 Chromosome 2, 96253975: 96253975\n193 TMEM127 NM_017849.3(TMEM127): c.413T> C (p.Leu138Pro) single nucleotide variant Uncertain significance rs772714957 GRCh37 Chromosome 2, 96919850: 96919850\n194 TMEM127 NM_017849.3(TMEM127): c.413T> C (p.Leu138Pro) single nucleotide variant Uncertain significance rs772714957 GRCh38 Chromosome 2, 96254112: 96254112\n195 TMEM127 NM_017849.3(TMEM127): c.280C> A (p.Arg94=) single nucleotide variant Likely benign rs121908824 GRCh37 Chromosome 2, 96920700: 96920700\n196 TMEM127 NM_017849.3(TMEM127): c.280C> A (p.Arg94=) single nucleotide variant Likely benign rs121908824 GRCh38 Chromosome 2, 96254962: 96254962\n197 TMEM127 NM_017849.3(TMEM127): c.88A> G (p.Ser30Gly) single nucleotide variant Uncertain significance rs763476625 GRCh37 Chromosome 2, 96931032: 96931032\n198 TMEM127 NM_017849.3(TMEM127): c.88A> G (p.Ser30Gly) single nucleotide variant Uncertain significance rs763476625 GRCh38 Chromosome 2, 96265294: 96265294\n199 TMEM127 NM_017849.3(TMEM127): c.39C> A (p.Arg13=) single nucleotide variant Likely benign rs1060503975 GRCh37 Chromosome 2, 96931081: 96931081\n200 TMEM127 NM_017849.3(TMEM127): c.39C> A (p.Arg13=) single nucleotide variant Likely benign rs1060503975 GRCh38 Chromosome 2, 96265343: 96265343\n201 TMEM127 NM_017849.3(TMEM127): c.672T> C (p.Tyr224=) single nucleotide variant Likely benign rs201935270 GRCh37 Chromosome 2, 96919591: 96919591\n202 TMEM127 NM_017849.3(TMEM127): c.672T> C (p.Tyr224=) single nucleotide variant Likely benign rs201935270 GRCh38 Chromosome 2, 96253853: 96253853\n203 TMEM127 NM_017849.3(TMEM127): c.598C> A (p.Pro200Thr) single nucleotide variant Uncertain significance rs200351681 GRCh37 Chromosome 2, 96919665: 96919665\n204 TMEM127 NM_017849.3(TMEM127): c.598C> A (p.Pro200Thr) single nucleotide variant Uncertain significance rs200351681 GRCh38 Chromosome 2, 96253927: 96253927\n205 TMEM127 NM_017849.3(TMEM127): c.519C> T (p.Phe173=) single nucleotide variant Likely benign rs758676810 GRCh37 Chromosome 2, 96919744: 96919744\n206 TMEM127 NM_017849.3(TMEM127): c.519C> T (p.Phe173=) single nucleotide variant Likely benign rs758676810 GRCh38 Chromosome 2, 96254006: 96254006\n207 SDHAF2 NM_017841.2(SDHAF2): c.15A> G (p.Thr5=) single nucleotide variant Likely benign rs144511254 GRCh37 Chromosome 11, 61197633: 61197633\n208 SDHAF2 NM_017841.2(SDHAF2): c.15A> G (p.Thr5=) single nucleotide variant Likely benign rs144511254 GRCh38 Chromosome 11, 61430161: 61430161\n209 SDHAF2 NM_017841.2(SDHAF2): c.21C> T (p.Phe7=) single nucleotide variant Likely benign rs892955355 GRCh37 Chromosome 11, 61197639: 61197639\n210 SDHAF2 NM_017841.2(SDHAF2): c.21C> T (p.Phe7=) single nucleotide variant Likely benign rs892955355 GRCh38 Chromosome 11, 61430167: 61430167\n211 SDHAF2 NM_017841.2(SDHAF2): c.261-9delT deletion Likely benign rs1060504900 GRCh37 Chromosome 11, 61205467: 61205467\n212 SDHAF2 NM_017841.2(SDHAF2): c.261-9delT deletion Likely benign rs1060504900 GRCh38 Chromosome 11, 61437995: 61437995\n213 SDHAF2 NM_017841.2(SDHAF2): c.331G> A (p.Glu111Lys) single nucleotide variant Uncertain significance rs145616631 GRCh37 Chromosome 11, 61205546: 61205546\n214 SDHAF2 NM_017841.2(SDHAF2): c.331G> A (p.Glu111Lys) single nucleotide variant Uncertain significance rs145616631 GRCh38 Chromosome 11, 61438074: 61438074\n215 SDHAF2 NM_017841.2(SDHAF2): c.371-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs375280597 GRCh37 Chromosome 11, 61213411: 61213411\n216 SDHAF2 NM_017841.2(SDHAF2): c.371-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs375280597 GRCh38 Chromosome 11, 61445939: 61445939\n217 SDHAF2 NM_017841.2(SDHAF2): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs1060503392 GRCh38 Chromosome 11, 61430148: 61430148\n218 SDHAF2 NM_017841.2(SDHAF2): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs1060503392 GRCh37 Chromosome 11, 61197620: 61197620\n219 SDHAF2 NM_017841.2(SDHAF2): c.13A> G (p.Thr5Ala) single nucleotide variant Uncertain significance rs775763888 GRCh38 Chromosome 11, 61430159: 61430159\n220 SDHAF2 NM_017841.2(SDHAF2): c.13A> G (p.Thr5Ala) single nucleotide variant Uncertain significance rs775763888 GRCh37 Chromosome 11, 61197631: 61197631\n221 SDHAF2 NM_017841.2(SDHAF2): c.294A> G (p.Thr98=) single nucleotide variant Likely benign rs762441285 GRCh37 Chromosome 11, 61205509: 61205509\n222 SDHAF2 NM_017841.2(SDHAF2): c.294A> G (p.Thr98=) single nucleotide variant Likely benign rs762441285 GRCh38 Chromosome 11, 61438037: 61438037\n223 SDHAF2 NM_017841.2(SDHAF2): c.319C> T (p.Arg107Cys) single nucleotide variant Likely benign rs140191819 GRCh37 Chromosome 11, 61205534: 61205534\n224 SDHAF2 NM_017841.2(SDHAF2): c.319C> T (p.Arg107Cys) single nucleotide variant Likely benign rs140191819 GRCh38 Chromosome 11, 61438062: 61438062\n225 SDHAF2 NM_017841.2(SDHAF2): c.385C> T (p.Pro129Ser) single nucleotide variant Uncertain significance rs1060503391 GRCh37 Chromosome 11, 61213427: 61213427\n226 SDHAF2 NM_017841.2(SDHAF2): c.385C> T (p.Pro129Ser) single nucleotide variant Uncertain significance rs1060503391 GRCh38 Chromosome 11, 61445955: 61445955\n227 SDHAF2 NM_017841.2(SDHAF2): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance rs572576746 GRCh37 Chromosome 11, 61213472: 61213472\n228 SDHAF2 NM_017841.2(SDHAF2): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance rs572576746 GRCh38 Chromosome 11, 61446000: 61446000\n229 SDHAF2 NM_017841.2(SDHAF2): c.7G> T (p.Val3Leu) single nucleotide variant Uncertain significance rs149277592 GRCh38 Chromosome 11, 61430153: 61430153\n230 SDHAF2 NM_017841.2(SDHAF2): c.7G> T (p.Val3Leu) single nucleotide variant Uncertain significance rs149277592 GRCh37 Chromosome 11, 61197625: 61197625\n231 SDHAF2 NM_017841.2(SDHAF2): c.157C> T (p.Pro53Ser) single nucleotide variant Uncertain significance rs1060503390 GRCh38 Chromosome 11, 61437745: 61437745\n232 SDHAF2 NM_017841.2(SDHAF2): c.157C> T (p.Pro53Ser) single nucleotide variant Uncertain significance rs1060503390 GRCh37 Chromosome 11, 61205217: 61205217\n233 SDHAF2 NM_017841.2(SDHAF2): c.221G> A (p.Ser74Asn) single nucleotide variant Uncertain significance rs1060503389 GRCh38 Chromosome 11, 61437809: 61437809\n234 SDHAF2 NM_017841.2(SDHAF2): c.221G> A (p.Ser74Asn) single nucleotide variant Uncertain significance rs1060503389 GRCh37 Chromosome 11, 61205281: 61205281\n235 SDHAF2 NM_017841.2(SDHAF2): c.460C> T (p.Arg154Cys) single nucleotide variant Uncertain significance rs778585796 GRCh38 Chromosome 11, 61446030: 61446030\n236 SDHAF2 NM_017841.2(SDHAF2): c.460C> T (p.Arg154Cys) single nucleotide variant Uncertain significance rs778585796 GRCh37 Chromosome 11, 61213502: 61213502\n237 SDHAF2 NM_017841.2(SDHAF2): c.476A> C (p.Glu159Ala) single nucleotide variant Uncertain significance rs140920079 GRCh38 Chromosome 11, 61446046: 61446046\n238 SDHAF2 NM_017841.2(SDHAF2): c.476A> C (p.Glu159Ala) single nucleotide variant Uncertain significance rs140920079 GRCh37 Chromosome 11, 61213518: 61213518\n239 MAX NC_000014.9: g.(?_65101546)_(65102544_?)del deletion Pathogenic GRCh37 Chromosome 14, 65568264: 65569262\n240 MAX NC_000014.9: g.(?_65101546)_(65102544_?)del deletion Pathogenic GRCh38 Chromosome 14, 65101546: 65102544\n241 MAX NM_002382.4(MAX): c.375C> T (p.Asn125=) single nucleotide variant Likely benign rs370238588 GRCh37 Chromosome 14, 65543302: 65543302\n242 MAX NM_002382.4(MAX): c.375C> T (p.Asn125=) single nucleotide variant Likely benign rs370238588 GRCh38 Chromosome 14, 65076584: 65076584\n243 MAX NM_002382.4(MAX): c.337A> T (p.Thr113Ser) single nucleotide variant Uncertain significance rs1060500100 GRCh37 Chromosome 14, 65543340: 65543340\n244 MAX NM_002382.4(MAX): c.337A> T (p.Thr113Ser) single nucleotide variant Uncertain significance rs1060500100 GRCh38 Chromosome 14, 65076622: 65076622\n245 MAX NM_002382.4(MAX): c.21C> A (p.Ile7=) single nucleotide variant Likely benign rs760248675 GRCh37 Chromosome 14, 65569037: 65569037\n246 MAX NM_002382.4(MAX): c.21C> A (p.Ile7=) single nucleotide variant Likely benign rs760248675 GRCh38 Chromosome 14, 65102319: 65102319\n247 MAX NM_002382.4(MAX): c.425C> T (p.Ser142Leu) single nucleotide variant Uncertain significance rs760147253 GRCh37 Chromosome 14, 65543252: 65543252\n248 MAX NM_002382.4(MAX): c.425C> T (p.Ser142Leu) single nucleotide variant Uncertain significance rs760147253 GRCh38 Chromosome 14, 65076534: 65076534\n249 MAX NM_002382.4(MAX): c.295+10C> G single nucleotide variant Likely benign rs375446224 GRCh37 Chromosome 14, 65544621: 65544621\n250 MAX NM_002382.4(MAX): c.295+10C> G single nucleotide variant Likely benign rs375446224 GRCh38 Chromosome 14, 65077903: 65077903\n251 MAX NM_002382.4(MAX): c.295+6C> T single nucleotide variant Uncertain significance rs146552320 GRCh37 Chromosome 14, 65544625: 65544625\n252 MAX NM_002382.4(MAX): c.295+6C> T single nucleotide variant Uncertain significance rs146552320 GRCh38 Chromosome 14, 65077907: 65077907\n253 MAX NM_002382.4(MAX): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs1060500099 GRCh37 Chromosome 14, 65544658: 65544658\n254 MAX NM_002382.4(MAX): c.268C> T (p.Arg90Trp) single nucleotide variant Uncertain significance rs1060500099 GRCh38 Chromosome 14, 65077940: 65077940\n255 MAX NM_002382.4(MAX): c.211_221delATCCAGTATAT (p.Ile71Alafs) deletion Pathogenic rs1060500101 GRCh38 Chromosome 14, 65077987: 65077997\n256 MAX NM_002382.4(MAX): c.211_221delATCCAGTATAT (p.Ile71Alafs) deletion Pathogenic rs1060500101 GRCh37 Chromosome 14, 65544705: 65544715\n257 MAX NM_002382.4(MAX): c.63+8T> C single nucleotide variant Likely benign rs776724315 GRCh38 Chromosome 14, 65101538: 65101538\n258 MAX NM_002382.4(MAX): c.63+8T> C single nucleotide variant Likely benign rs776724315 GRCh37 Chromosome 14, 65568256: 65568256\n259 MAX NM_002382.4(MAX): c.415G> A (p.Asp139Asn) single nucleotide variant Uncertain significance rs772397458 GRCh37 Chromosome 14, 65543262: 65543262\n260 MAX NM_002382.4(MAX): c.415G> A (p.Asp139Asn) single nucleotide variant Uncertain significance rs772397458 GRCh38 Chromosome 14, 65076544: 65076544\n261 MAX NM_002382.4(MAX): c.414G> A (p.Ser138=) single nucleotide variant Conflicting interpretations of pathogenicity rs559090673 GRCh37 Chromosome 14, 65543263: 65543263\n262 MAX NM_002382.4(MAX): c.414G> A (p.Ser138=) single nucleotide variant Conflicting interpretations of pathogenicity rs559090673 GRCh38 Chromosome 14, 65076545: 65076545\n263 MAX NM_002382.4(MAX): c.171+6T> C single nucleotide variant Uncertain significance rs1060500098 GRCh37 Chromosome 14, 65560420: 65560420\n264 MAX NM_002382.4(MAX): c.171+6T> C single nucleotide variant Uncertain significance rs1060500098 GRCh38 Chromosome 14, 65093702: 65093702\n265 MAX NM_002382.4(MAX): c.56A> T (p.Gln19Leu) single nucleotide variant Uncertain significance rs200547781 GRCh37 Chromosome 14, 65568271: 65568271\n266 MAX NM_002382.4(MAX): c.56A> T (p.Gln19Leu) single nucleotide variant Uncertain significance rs200547781 GRCh38 Chromosome 14, 65101553: 65101553\n267 MAX NM_002382.4(MAX): c.426G> A (p.Ser142=) single nucleotide variant Likely benign rs145787299 GRCh38 Chromosome 14, 65076533: 65076533\n268 MAX NM_002382.4(MAX): c.426G> A (p.Ser142=) single nucleotide variant Likely benign rs145787299 GRCh37 Chromosome 14, 65543251: 65543251\n269 MAX NM_002382.4(MAX): c.298C> T (p.Arg100Cys) single nucleotide variant Uncertain significance rs762084527 GRCh38 Chromosome 14, 65076661: 65076661\n270 MAX NM_002382.4(MAX): c.298C> T (p.Arg100Cys) single nucleotide variant Uncertain significance rs762084527 GRCh37 Chromosome 14, 65543379: 65543379\n271 MAX NM_002382.4(MAX): c.102A> G (p.Lys34=) single nucleotide variant Likely benign rs1060503836 GRCh38 Chromosome 14, 65093777: 65093777\n272 MAX NM_002382.4(MAX): c.102A> G (p.Lys34=) single nucleotide variant Likely benign rs1060503836 GRCh37 Chromosome 14, 65560495: 65560495\n273 SDHC NM_003001.3(SDHC): c.377A> G (p.Tyr126Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs898854295 GRCh37 Chromosome 1, 161326602: 161326602\n274 SDHC NM_003001.3(SDHC): c.377A> G (p.Tyr126Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs898854295 GRCh38 Chromosome 1, 161356812: 161356812\n275 SDHB NM_003000.2(SDHB): c.287G> A (p.Gly96Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs778952116 GRCh37 Chromosome 1, 17355231: 17355231\n276 SDHB NM_003000.2(SDHB): c.287G> A (p.Gly96Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs778952116 GRCh38 Chromosome 1, 17028736: 17028736\n277 SDHB NM_003000.2(SDHB): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs1131691049 GRCh37 Chromosome 1, 17380514: 17380514\n278 SDHB NM_003000.2(SDHB): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs1131691049 GRCh38 Chromosome 1, 17054019: 17054019\n279 SDHD NM_003002.3(SDHD): c.148C> G (p.His50Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs779249550 GRCh37 Chromosome 11, 111958676: 111958676\n280 SDHD NM_003002.3(SDHD): c.148C> G (p.His50Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs779249550 GRCh38 Chromosome 11, 112087952: 112087952\n281 SDHC NM_003001.3(SDHC): c.218G> A (p.Gly73Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 161340632: 161340632\n282 SDHC NM_003001.3(SDHC): c.218G> A (p.Gly73Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 161310422: 161310422\n283 SDHC NM_003001.3(SDHC): c.406_510del105 (p.Met136_Ter170delinsArgLys) deletion Pathogenic GRCh38 Chromosome 1, 161362329: 161362433\n284 SDHC NM_003001.3(SDHC): c.406_510del105 (p.Met136_Ter170delinsArgLys) deletion Pathogenic GRCh37 Chromosome 1, 161332119: 161332223\n285 SDHB NM_003000.2(SDHB): c.761_762insC (p.Lys255Terfs) insertion Pathogenic GRCh38 Chromosome 1, 17022611: 17022612\n286 SDHB NM_003000.2(SDHB): c.761_762insC (p.Lys255Terfs) insertion Pathogenic GRCh37 Chromosome 1, 17349106: 17349107\n287 SDHB NM_003000.2(SDHB): c.736A> T (p.Ile246Phe) single nucleotide variant Pathogenic rs146800605 GRCh37 Chromosome 1, 17349132: 17349132\n288 SDHB NM_003000.2(SDHB): c.736A> T (p.Ile246Phe) single nucleotide variant Pathogenic rs146800605 GRCh38 Chromosome 1, 17022637: 17022637\n289 SDHB NM_003000.2(SDHB): c.683_684delAG (p.Glu228Glyfs) deletion Pathogenic rs762812025 GRCh38 Chromosome 1, 17022689: 17022690\n290 SDHB NM_003000.2(SDHB): c.683_684delAG (p.Glu228Glyfs) deletion Pathogenic rs762812025 GRCh37 Chromosome 1, 17349184: 17349185\n291 SDHB NM_003000.2(SDHB): c.642+1G> A single nucleotide variant Pathogenic rs1131691052 GRCh38 Chromosome 1, 17023972: 17023972\n292 SDHB NM_003000.2(SDHB): c.642+1G> A single nucleotide variant Pathogenic rs1131691052 GRCh37 Chromosome 1, 17350467: 17350467\n293 SDHB NM_003000.2(SDHB): c.642G> C (p.Gln214His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 17023973: 17023973\n294 SDHB NM_003000.2(SDHB): c.642G> C (p.Gln214His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 17350468: 17350468\n295 SDHB NM_003000.2(SDHB): c.553G> T (p.Glu185Ter) single nucleotide variant Pathogenic rs1045881797 GRCh38 Chromosome 1, 17024062: 17024062\n296 SDHB NM_003000.2(SDHB): c.553G> T (p.Glu185Ter) single nucleotide variant Pathogenic rs1045881797 GRCh37 Chromosome 1, 17350557: 17350557\n297 SDHB NM_003000.2(SDHB): c.540G> A (p.Leu180=) single nucleotide variant Likely pathogenic rs528442805 GRCh38 Chromosome 1, 17027749: 17027749\n298 SDHB NM_003000.2(SDHB): c.540G> A (p.Leu180=) single nucleotide variant Likely pathogenic rs528442805 GRCh37 Chromosome 1, 17354244: 17354244\n299 SDHB NM_003000.2(SDHB): c.523_527delGAAGAinsAAGG (p.Glu175Lysfs) indel Pathogenic GRCh37 Chromosome 1, 17354257: 17354261\n300 SDHB NM_003000.2(SDHB): c.523_527delGAAGAinsAAGG (p.Glu175Lysfs) indel Pathogenic GRCh38 Chromosome 1, 17027762: 17027766\n301 SDHB NM_003000.2(SDHB): c.490C> T (p.Gln164Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17027799: 17027799\n302 SDHB NM_003000.2(SDHB): c.490C> T (p.Gln164Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17354294: 17354294\n303 SDHB NM_003000.2(SDHB): c.445_447delCAGinsGGTATCT (p.Gln149Glyfs) indel Pathogenic GRCh38 Chromosome 1, 17027842: 17027844\n304 SDHB NM_003000.2(SDHB): c.445_447delCAGinsGGTATCT (p.Gln149Glyfs) indel Pathogenic GRCh37 Chromosome 1, 17354337: 17354339\n305 SDHB NM_003000.2(SDHB): c.392delC (p.Pro131Hisfs) deletion Pathogenic GRCh37 Chromosome 1, 17355126: 17355126\n306 SDHB NM_003000.2(SDHB): c.392delC (p.Pro131Hisfs) deletion Pathogenic GRCh38 Chromosome 1, 17028631: 17028631\n307 SDHB NM_003000.2(SDHB): c.369_370insA (p.Val124Serfs) insertion Pathogenic GRCh38 Chromosome 1, 17028653: 17028654\n308 SDHB NM_003000.2(SDHB): c.369_370insA (p.Val124Serfs) insertion Pathogenic GRCh37 Chromosome 1, 17355148: 17355149\n309 SDHB NM_003000.2(SDHB): c.348_352delGATTG (p.Ile117Hisfs) deletion Likely pathogenic GRCh38 Chromosome 1, 17028671: 17028675\n310 SDHB NM_003000.2(SDHB): c.348_352delGATTG (p.Ile117Hisfs) deletion Likely pathogenic GRCh37 Chromosome 1, 17355166: 17355170\n311 SDHB NM_003000.2(SDHB): c.287-3C> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 17028739: 17028739\n312 SDHB NM_003000.2(SDHB): c.287-3C> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 17355234: 17355234\n313 SDHB NM_003000.2(SDHB): c.275C> A (p.Ser92Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17359566: 17359566\n314 SDHB NM_003000.2(SDHB): c.275C> A (p.Ser92Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17033071: 17033071\n315 SDHB NM_003000.2(SDHB): c.274T> C (p.Ser92Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17359567: 17359567\n316 SDHB NM_003000.2(SDHB): c.274T> C (p.Ser92Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17033072: 17033072\n317 SDHB NM_003000.2(SDHB): c.183T> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs760169139 GRCh38 Chromosome 1, 17044778: 17044778\n318 SDHB NM_003000.2(SDHB): c.183T> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs760169139 GRCh37 Chromosome 1, 17371273: 17371273\n319 SDHB NM_003000.2(SDHB): c.73-9A> G single nucleotide variant Pathogenic GRCh38 Chromosome 1, 17044897: 17044897\n320 SDHB NM_003000.2(SDHB): c.73-9A> G single nucleotide variant Pathogenic GRCh37 Chromosome 1, 17371392: 17371392\n321 SDHB NM_003000.2(SDHB): c.1_72del72 (p.Met1_Gln24del) deletion Pathogenic GRCh38 Chromosome 1, 17053948: 17054019\n322 SDHB NM_003000.2(SDHB): c.1_72del72 (p.Met1_Gln24del) deletion Pathogenic GRCh37 Chromosome 1, 17380443: 17380514\n323 SDHD NM_003002.3(SDHD): c.170-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 11, 112088866: 112088866\n324 SDHD NM_003002.3(SDHD): c.170-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 11, 111959590: 111959590\n325 SDHD NM_003002.3(SDHD): c.239T> G (p.Leu80Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 112088936: 112088936\n326 SDHD NM_003002.3(SDHD): c.239T> G (p.Leu80Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111959660: 111959660\n327 SDHD NM_003002.3(SDHD): c.314+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 112089012: 112089012\n328 SDHD NM_003002.3(SDHD): c.314+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 111959736: 111959736\n329 SDHD NM_003002.3(SDHD): c.315_480del166 (p.Trp105Cysfs) deletion Pathogenic GRCh38 Chromosome 11, 112094805: 112094970\n330 SDHD NM_003002.3(SDHD): c.315_480del166 (p.Trp105Cysfs) deletion Pathogenic GRCh37 Chromosome 11, 111965529: 111965694\n331 SDHD NM_003002.3(SDHD): c.331_333delGTT (p.Val111del) deletion Uncertain significance GRCh37 Chromosome 11, 111965545: 111965547\n332 SDHD NM_003002.3(SDHD): c.331_333delGTT (p.Val111del) deletion Uncertain significance GRCh38 Chromosome 11, 112094821: 112094823\n333 SDHD NM_003002.3(SDHD): c.342T> A (p.Tyr114Ter) single nucleotide variant Pathogenic rs1050032491 GRCh37 Chromosome 11, 111965556: 111965556\n334 SDHD NM_003002.3(SDHD): c.342T> A (p.Tyr114Ter) single nucleotide variant Pathogenic rs1050032491 GRCh38 Chromosome 11, 112094832: 112094832\n335 SDHD NM_003002.3(SDHD): c.381delG (p.Leu128Phefs) deletion Pathogenic GRCh38 Chromosome 11, 112094871: 112094871\n336 SDHD NM_003002.3(SDHD): c.381delG (p.Leu128Phefs) deletion Pathogenic GRCh37 Chromosome 11, 111965595: 111965595\n337 SDHD NM_003002.3(SDHD): c.443G> T (p.Gly148Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111965657: 111965657\n338 SDHD NM_003002.3(SDHD): c.443G> T (p.Gly148Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 112094933: 112094933\n339 SDHB NM_003000.2: c.1_843del deletion Pathogenic\n340 SDHB NM_003000.2: c.73_846del deletion Pathogenic\n341 SDHB NM_003000.2: c.287_540del deletion Pathogenic\n342 SDHD NM_003002.3: c.1_169del deletion Pathogenic\n343 TMEM127 NC_000002.12: g.(?_96253802)_(96265387_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 96253802: 96265387\n344 TMEM127 NM_017849.3(TMEM127): c.430A> T (p.Ile144Phe) single nucleotide variant Uncertain significance rs896909534 GRCh38 Chromosome 2, 96254095: 96254095\n345 TMEM127 NM_017849.3(TMEM127): c.430A> T (p.Ile144Phe) single nucleotide variant Uncertain significance rs896909534 GRCh37 Chromosome 2, 96919833: 96919833\n346 TMEM127 NM_017849.3(TMEM127): c.410-5C> T single nucleotide variant Likely benign GRCh38 Chromosome 2, 96254120: 96254120\n347 TMEM127 NM_017849.3(TMEM127): c.410-5C> T single nucleotide variant Likely benign GRCh37 Chromosome 2, 96919858: 96919858\n348 TMEM127 NM_017849.3(TMEM127): c.133T> A (p.Cys45Ser) single nucleotide variant Uncertain significance rs995979769 GRCh38 Chromosome 2, 96265249: 96265249\n349 TMEM127 NM_017849.3(TMEM127): c.133T> A (p.Cys45Ser) single nucleotide variant Uncertain significance rs995979769 GRCh37 Chromosome 2, 96930987: 96930987\n350 TMEM127 NM_017849.3(TMEM127): c.81G> A (p.Pro27=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96931039: 96931039\n351 TMEM127 NM_017849.3(TMEM127): c.81G> A (p.Pro27=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96265301: 96265301\n352 TMEM127 NM_017849.3(TMEM127): c.519C> A (p.Phe173Leu) single nucleotide variant Uncertain significance rs758676810 GRCh38 Chromosome 2, 96254006: 96254006\n353 TMEM127 NM_017849.3(TMEM127): c.519C> A (p.Phe173Leu) single nucleotide variant Uncertain significance rs758676810 GRCh37 Chromosome 2, 96919744: 96919744\n354 TMEM127 NM_017849.3(TMEM127): c.496G> A (p.Gly166Arg) single nucleotide variant Uncertain significance rs372120755 GRCh38 Chromosome 2, 96254029: 96254029\n355 TMEM127 NM_017849.3(TMEM127): c.496G> A (p.Gly166Arg) single nucleotide variant Uncertain significance rs372120755 GRCh37 Chromosome 2, 96919767: 96919767\n356 TMEM127 NM_017849.3(TMEM127): c.469C> T (p.Gln157Ter) single nucleotide variant Pathogenic rs780133289 GRCh38 Chromosome 2, 96254056: 96254056\n357 TMEM127 NM_017849.3(TMEM127): c.469C> T (p.Gln157Ter) single nucleotide variant Pathogenic rs780133289 GRCh37 Chromosome 2, 96919794: 96919794\n358 TMEM127 NM_017849.3(TMEM127): c.212T> A (p.Val71Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265170: 96265170\n359 TMEM127 NM_017849.3(TMEM127): c.212T> A (p.Val71Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96930908: 96930908\n360 TMEM127 NM_017849.3(TMEM127): c.124_125delAC (p.Thr42Glyfs) deletion Pathogenic GRCh38 Chromosome 2, 96265257: 96265258\n361 TMEM127 NM_017849.3(TMEM127): c.124_125delAC (p.Thr42Glyfs) deletion Pathogenic GRCh37 Chromosome 2, 96930995: 96930996\n362 TMEM127 NM_017849.3(TMEM127): c.102C> T (p.Ala34=) single nucleotide variant Likely benign rs781643869 GRCh38 Chromosome 2, 96265280: 96265280\n363 TMEM127 NM_017849.3(TMEM127): c.102C> T (p.Ala34=) single nucleotide variant Likely benign rs781643869 GRCh37 Chromosome 2, 96931018: 96931018\n364 TMEM127 NM_017849.3(TMEM127): c.94G> T (p.Ala32Ser) single nucleotide variant Uncertain significance rs770347064 GRCh38 Chromosome 2, 96265288: 96265288\n365 TMEM127 NM_017849.3(TMEM127): c.94G> T (p.Ala32Ser) single nucleotide variant Uncertain significance rs770347064 GRCh37 Chromosome 2, 96931026: 96931026\n366 TMEM127 NM_017849.3(TMEM127): c.12C> T (p.Pro4=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96265370: 96265370\n367 TMEM127 NM_017849.3(TMEM127): c.12C> T (p.Pro4=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96931108: 96931108\n368 TMEM127 NM_017849.3(TMEM127): c.663G> A (p.Pro221=) single nucleotide variant Likely benign rs377760956 GRCh38 Chromosome 2, 96253862: 96253862\n369 TMEM127 NM_017849.3(TMEM127): c.663G> A (p.Pro221=) single nucleotide variant Likely benign rs377760956 GRCh37 Chromosome 2, 96919600: 96919600\n370 TMEM127 NM_017849.3(TMEM127): c.562A> G (p.Ile188Val) single nucleotide variant Uncertain significance rs762657413 GRCh38 Chromosome 2, 96253963: 96253963\n371 TMEM127 NM_017849.3(TMEM127): c.562A> G (p.Ile188Val) single nucleotide variant Uncertain significance rs762657413 GRCh37 Chromosome 2, 96919701: 96919701\n372 TMEM127 NM_017849.3(TMEM127): c.553G> A (p.Gly185Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96253972: 96253972\n373 TMEM127 NM_017849.3(TMEM127): c.553G> A (p.Gly185Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96919710: 96919710\n374 TMEM127 NM_017849.3(TMEM127): c.427G> A (p.Val143Ile) single nucleotide variant Uncertain significance rs772153618 GRCh38 Chromosome 2, 96254098: 96254098\n375 TMEM127 NM_017849.3(TMEM127): c.427G> A (p.Val143Ile) single nucleotide variant Uncertain significance rs772153618 GRCh37 Chromosome 2, 96919836: 96919836\n376 TMEM127 NM_017849.3(TMEM127): c.393C> T (p.Phe131=) single nucleotide variant Likely benign rs756680897 GRCh38 Chromosome 2, 96254849: 96254849\n377 TMEM127 NM_017849.3(TMEM127): c.393C> T (p.Phe131=) single nucleotide variant Likely benign rs756680897 GRCh37 Chromosome 2, 96920587: 96920587\n378 TMEM127 NM_017849.3(TMEM127): c.377C> T (p.Thr126Ile) single nucleotide variant Uncertain significance rs775944671 GRCh38 Chromosome 2, 96254865: 96254865\n379 TMEM127 NM_017849.3(TMEM127): c.377C> T (p.Thr126Ile) single nucleotide variant Uncertain significance rs775944671 GRCh37 Chromosome 2, 96920603: 96920603\n380 TMEM127 NM_017849.3(TMEM127): c.136A> G (p.Thr46Ala) single nucleotide variant Uncertain significance rs144659242 GRCh38 Chromosome 2, 96265246: 96265246\n381 TMEM127 NM_017849.3(TMEM127): c.136A> G (p.Thr46Ala) single nucleotide variant Uncertain significance rs144659242 GRCh37 Chromosome 2, 96930984: 96930984\n382 TMEM127 NM_017849.3(TMEM127): c.56G> T (p.Gly19Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931064: 96931064\n383 TMEM127 NM_017849.3(TMEM127): c.56G> T (p.Gly19Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265326: 96265326\n384 TMEM127 NM_017849.3(TMEM127): c.283delG (p.Val95Serfs) deletion Pathogenic GRCh38 Chromosome 2, 96254959: 96254959\n385 TMEM127 NM_017849.3(TMEM127): c.283delG (p.Val95Serfs) deletion Pathogenic GRCh37 Chromosome 2, 96920697: 96920697\n386 TMEM127 NM_017849.3(TMEM127): c.210C> T (p.Asp70=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96265172: 96265172\n387 TMEM127 NM_017849.3(TMEM127): c.210C> T (p.Asp70=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96930910: 96930910\n388 TMEM127 NM_017849.3(TMEM127): c.166A> G (p.Ile56Val) single nucleotide variant Uncertain significance rs751779219 GRCh38 Chromosome 2, 96265216: 96265216\n389 TMEM127 NM_017849.3(TMEM127): c.166A> G (p.Ile56Val) single nucleotide variant Uncertain significance rs751779219 GRCh37 Chromosome 2, 96930954: 96930954\n390 TMEM127 NM_017849.3(TMEM127): c.158G> A (p.Trp53Ter) single nucleotide variant Pathogenic rs121908818 GRCh38 Chromosome 2, 96265224: 96265224\n391 TMEM127 NM_017849.3(TMEM127): c.158G> A (p.Trp53Ter) single nucleotide variant Pathogenic rs121908818 GRCh37 Chromosome 2, 96930962: 96930962\n392 TMEM127 NM_017849.3(TMEM127): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265282: 96265282\n393 TMEM127 NM_017849.3(TMEM127): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931020: 96931020\n394 TMEM127 NM_017849.3(TMEM127): c.67C> A (p.Leu23Met) single nucleotide variant Uncertain significance rs749807415 GRCh38 Chromosome 2, 96265315: 96265315\n395 TMEM127 NM_017849.3(TMEM127): c.67C> A (p.Leu23Met) single nucleotide variant Uncertain significance rs749807415 GRCh37 Chromosome 2, 96931053: 96931053\n396 TMEM127 NM_017849.3(TMEM127): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265374: 96265374\n397 TMEM127 NM_017849.3(TMEM127): c.8C> T (p.Ala3Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931112: 96931112\n398 SDHAF2 NM_017841.2(SDHAF2): c.25A> G (p.Thr9Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61197643: 61197643\n399 SDHAF2 NM_017841.2(SDHAF2): c.25A> G (p.Thr9Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61430171: 61430171\n400 SDHAF2 NM_017841.2(SDHAF2): c.32C> T (p.Ser11Leu) single nucleotide variant Likely benign rs148425779 GRCh37 Chromosome 11, 61197650: 61197650\n401 SDHAF2 NM_017841.2(SDHAF2): c.32C> T (p.Ser11Leu) single nucleotide variant Likely benign rs148425779 GRCh38 Chromosome 11, 61430178: 61430178\n402 SDHAF2 NM_017841.2(SDHAF2): c.370+8G> C single nucleotide variant Likely benign rs764742919 GRCh37 Chromosome 11, 61205593: 61205593\n403 SDHAF2 NM_017841.2(SDHAF2): c.370+8G> C single nucleotide variant Likely benign rs764742919 GRCh38 Chromosome 11, 61438121: 61438121\n404 SDHAF2 NM_017841.2(SDHAF2): c.496C> T (p.Arg166Cys) single nucleotide variant Uncertain significance rs968303021 GRCh37 Chromosome 11, 61213538: 61213538\n405 SDHAF2 NM_017841.2(SDHAF2): c.496C> T (p.Arg166Cys) single nucleotide variant Uncertain significance rs968303021 GRCh38 Chromosome 11, 61446066: 61446066\n406 SDHAF2 NM_017841.2(SDHAF2): c.6G> A (p.Ala2=) single nucleotide variant Likely benign rs747571875 GRCh38 Chromosome 11, 61430152: 61430152\n407 SDHAF2 NM_017841.2(SDHAF2): c.6G> A (p.Ala2=) single nucleotide variant Likely benign rs747571875 GRCh37 Chromosome 11, 61197624: 61197624\n408 SDHAF2 NM_017841.2(SDHAF2): c.240G> A (p.Leu80=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 61205300: 61205300\n409 SDHAF2 NM_017841.2(SDHAF2): c.240G> A (p.Leu80=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 61437828: 61437828\n410 SDHAF2 NM_017841.2(SDHAF2): c.383C> T (p.Ala128Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61213425: 61213425\n411 SDHAF2 NM_017841.2(SDHAF2): c.383C> T (p.Ala128Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61445953: 61445953\n412 SDHAF2 NM_017841.2(SDHAF2): c.156G> A (p.Leu52=) single nucleotide variant Likely benign rs773466310 GRCh37 Chromosome 11, 61205216: 61205216\n413 SDHAF2 NM_017841.2(SDHAF2): c.156G> A (p.Leu52=) single nucleotide variant Likely benign rs773466310 GRCh38 Chromosome 11, 61437744: 61437744\n414 SDHAF2 NM_017841.2(SDHAF2): c.248G> T (p.Cys83Phe) single nucleotide variant Uncertain significance rs982336783 GRCh37 Chromosome 11, 61205308: 61205308\n415 SDHAF2 NM_017841.2(SDHAF2): c.248G> T (p.Cys83Phe) single nucleotide variant Uncertain significance rs982336783 GRCh38 Chromosome 11, 61437836: 61437836\n416 SDHAF2 NM_017841.2(SDHAF2): c.260+1G> A single nucleotide variant Likely pathogenic rs749527870 GRCh37 Chromosome 11, 61205321: 61205321\n417 SDHAF2 NM_017841.2(SDHAF2): c.260+1G> A single nucleotide variant Likely pathogenic rs749527870 GRCh38 Chromosome 11, 61437849: 61437849\n418 SDHAF2 NM_017841.2(SDHAF2): c.264T> G (p.Leu88=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 61205479: 61205479\n419 SDHAF2 NM_017841.2(SDHAF2): c.264T> G (p.Leu88=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 61438007: 61438007\n420 SDHAF2 NM_017841.2(SDHAF2): c.313T> A (p.Tyr105Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61205528: 61205528\n421 SDHAF2 NM_017841.2(SDHAF2): c.313T> A (p.Tyr105Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61438056: 61438056\n422 SDHAF2 NM_017841.2(SDHAF2): c.320G> A (p.Arg107His) single nucleotide variant Uncertain significance rs535627239 GRCh37 Chromosome 11, 61205535: 61205535\n423 SDHAF2 NM_017841.2(SDHAF2): c.320G> A (p.Arg107His) single nucleotide variant Uncertain significance rs535627239 GRCh38 Chromosome 11, 61438063: 61438063\n424 SDHAF2 NM_017841.2(SDHAF2): c.465C> T (p.Ala155=) single nucleotide variant Likely benign rs758154733 GRCh37 Chromosome 11, 61213507: 61213507\n425 SDHAF2 NM_017841.2(SDHAF2): c.465C> T (p.Ala155=) single nucleotide variant Likely benign rs758154733 GRCh38 Chromosome 11, 61446035: 61446035\n426 SDHAF2 NM_017841.2(SDHAF2): c.497G> A (p.Arg166His) single nucleotide variant Uncertain significance rs768048172 GRCh37 Chromosome 11, 61213539: 61213539\n427 SDHAF2 NM_017841.2(SDHAF2): c.497G> A (p.Arg166His) single nucleotide variant Uncertain significance rs768048172 GRCh38 Chromosome 11, 61446067: 61446067\n428 SDHAF2 NM_017841.2(SDHAF2): c.37-7A> G single nucleotide variant Likely benign GRCh38 Chromosome 11, 61437618: 61437618\n429 SDHAF2 NM_017841.2(SDHAF2): c.37-7A> G single nucleotide variant Likely benign GRCh37 Chromosome 11, 61205090: 61205090\n430 SDHAF2 NM_017841.2(SDHAF2): c.109G> T (p.Gly37Cys) single nucleotide variant Uncertain significance rs868016844 GRCh38 Chromosome 11, 61437697: 61437697\n431 SDHAF2 NM_017841.2(SDHAF2): c.109G> T (p.Gly37Cys) single nucleotide variant Uncertain significance rs868016844 GRCh37 Chromosome 11, 61205169: 61205169\n432 SDHAF2 NM_017841.2(SDHAF2): c.464C> T (p.Ala155Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61446034: 61446034\n433 SDHAF2 NM_017841.2(SDHAF2): c.464C> T (p.Ala155Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61213506: 61213506\n434 MAX NM_002382.4(MAX): c.432T> A (p.Ser144=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65076527: 65076527\n435 MAX NM_002382.4(MAX): c.432T> A (p.Ser144=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65543245: 65543245\n436 MAX NM_002382.4(MAX): c.360C> A (p.Asn120Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 65076599: 65076599\n437 MAX NM_002382.4(MAX): c.360C> A (p.Asn120Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65543317: 65543317\n438 MAX NM_002382.4(MAX): c.295+10C> T single nucleotide variant Likely benign rs375446224 GRCh38 Chromosome 14, 65077903: 65077903\n439 MAX NM_002382.4(MAX): c.295+10C> T single nucleotide variant Likely benign rs375446224 GRCh37 Chromosome 14, 65544621: 65544621\n440 MAX NM_002382.4(MAX): c.21C> G (p.Ile7Met) single nucleotide variant Uncertain significance rs760248675 GRCh37 Chromosome 14, 65569037: 65569037\n441 MAX NM_002382.4(MAX): c.21C> G (p.Ile7Met) single nucleotide variant Uncertain significance rs760248675 GRCh38 Chromosome 14, 65102319: 65102319\n442 MAX NC_000014.9: g.(?_65093702)_(65102345_?)del deletion Pathogenic GRCh38 Chromosome 14, 65093702: 65102345\n443 MAX NC_000014.9: g.(?_65093702)_(65102345_?)del deletion Pathogenic GRCh37 Chromosome 14, 65560420: 65569063\n444 MAX NM_002382.4(MAX): c.406G> A (p.Gly136Arg) single nucleotide variant Uncertain significance rs140490467 GRCh37 Chromosome 14, 65543271: 65543271\n445 MAX NM_002382.4(MAX): c.406G> A (p.Gly136Arg) single nucleotide variant Uncertain significance rs140490467 GRCh38 Chromosome 14, 65076553: 65076553\n446 MAX NM_002382.4(MAX): c.6C> T (p.Ser2=) single nucleotide variant Likely benign rs138539686 GRCh38 Chromosome 14, 65102334: 65102334\n447 MAX NM_002382.4(MAX): c.6C> T (p.Ser2=) single nucleotide variant Likely benign rs138539686 GRCh37 Chromosome 14, 65569052: 65569052\n448 MAX NM_002382.4(MAX): c.384C> A (p.Gly128=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65543293: 65543293\n449 MAX NM_002382.4(MAX): c.384C> A (p.Gly128=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65076575: 65076575\n450 MAX NM_002382.4(MAX): c.277G> C (p.Ala93Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65544649: 65544649\n451 MAX NM_002382.4(MAX): c.277G> C (p.Ala93Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 65077931: 65077931\n452 MAX NM_002382.4(MAX): c.359A> G (p.Asn120Ser) single nucleotide variant Uncertain significance rs80206158 GRCh37 Chromosome 14, 65543318: 65543318\n453 MAX NM_002382.4(MAX): c.359A> G (p.Asn120Ser) single nucleotide variant Uncertain significance rs80206158 GRCh38 Chromosome 14, 65076600: 65076600\n454 MAX NM_002382.4(MAX): c.295+8C> G single nucleotide variant Likely benign rs754409025 GRCh37 Chromosome 14, 65544623: 65544623\n455 MAX NM_002382.4(MAX): c.295+8C> G single nucleotide variant Likely benign rs754409025 GRCh38 Chromosome 14, 65077905: 65077905\n456 MAX NM_002382.4(MAX): c.87T> C (p.Asn29=) single nucleotide variant Likely benign rs771488967 GRCh37 Chromosome 14, 65560510: 65560510\n457 MAX NM_002382.4(MAX): c.87T> C (p.Asn29=) single nucleotide variant Likely benign rs771488967 GRCh38 Chromosome 14, 65093792: 65093792\n458 MAX NM_002382.4(MAX): c.57A> G (p.Gln19=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65568270: 65568270\n459 MAX NM_002382.4(MAX): c.57A> G (p.Gln19=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65101552: 65101552\n460 SDHB NM_003000.2(SDHB): c.299C> G (p.Ser100Cys) single nucleotide variant Uncertain significance rs121917755 GRCh37 Chromosome 1, 17355219: 17355219\n461 SDHB NM_003000.2(SDHB): c.299C> G (p.Ser100Cys) single nucleotide variant Uncertain significance rs121917755 GRCh38 Chromosome 1, 17028724: 17028724\n462 TMEM127 NM_017849.3(TMEM127): c.572C> T (p.Thr191Met) single nucleotide variant Benign/Likely benign rs200327514 GRCh38 Chromosome 2, 96253953: 96253953\n463 TMEM127 NM_017849.3(TMEM127): c.572C> T (p.Thr191Met) single nucleotide variant Benign/Likely benign rs200327514 GRCh37 Chromosome 2, 96919691: 96919691\n464 TMEM127 NM_017849.3(TMEM127): c.52C> T (p.Pro18Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265330: 96265330\n465 TMEM127 NM_017849.3(TMEM127): c.52C> T (p.Pro18Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931068: 96931068\n466 TMEM127 NM_017849.3(TMEM127): c.121A> G (p.Ile41Val) single nucleotide variant Uncertain significance rs760633411 GRCh37 Chromosome 2, 96930999: 96930999\n467 TMEM127 NM_017849.3(TMEM127): c.121A> G (p.Ile41Val) single nucleotide variant Uncertain significance rs760633411 GRCh38 Chromosome 2, 96265261: 96265261\n468 MAX NM_002382.4(MAX): c.331C> G (p.Leu111Val) single nucleotide variant Uncertain significance rs748675729 GRCh38 Chromosome 14, 65076628: 65076628\n469 MAX NM_002382.4(MAX): c.331C> G (p.Leu111Val) single nucleotide variant Uncertain significance rs748675729 GRCh37 Chromosome 14, 65543346: 65543346\n470 SDHC NM_003001.3(SDHC): c.21-3_22delCAGAC deletion Likely pathogenic GRCh37 Chromosome 1, 161293401: 161293405\n471 SDHC NM_003001.3(SDHC): c.21-3_22delCAGAC deletion Likely pathogenic GRCh38 Chromosome 1, 161323611: 161323615\n472 SDHB NM_003000.2(SDHB): c.445_446insTATGG (p.Gln149Leufs) insertion Likely pathogenic GRCh37 Chromosome 1, 17354338: 17354339\n473 SDHB NM_003000.2(SDHB): c.445_446insTATGG (p.Gln149Leufs) insertion Likely pathogenic GRCh38 Chromosome 1, 17027843: 17027844\n474 TMEM127 NM_017849.3(TMEM127): c.667G> A (p.Glu223Lys) single nucleotide variant Uncertain significance rs779910556 GRCh38 Chromosome 2, 96253858: 96253858\n475 TMEM127 NM_017849.3(TMEM127): c.667G> A (p.Glu223Lys) single nucleotide variant Uncertain significance rs779910556 GRCh37 Chromosome 2, 96919596: 96919596\n476 TMEM127 NM_017849.3(TMEM127): c.402C> A (p.Ile134=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96254840: 96254840\n477 TMEM127 NM_017849.3(TMEM127): c.402C> A (p.Ile134=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96920578: 96920578\n478 TMEM127 NM_017849.3(TMEM127): c.71C> G (p.Pro24Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931049: 96931049\n479 TMEM127 NM_017849.3(TMEM127): c.71C> G (p.Pro24Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265311: 96265311\n480 TMEM127 NM_017849.3(TMEM127): c.19G> A (p.Ala7Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931101: 96931101\n481 TMEM127 NM_017849.3(TMEM127): c.19G> A (p.Ala7Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265363: 96265363\n482 TMEM127 NM_017849.3(TMEM127): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance rs1024081498 GRCh37 Chromosome 2, 96931110: 96931110\n483 TMEM127 NM_017849.3(TMEM127): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance rs1024081498 GRCh38 Chromosome 2, 96265372: 96265372\n484 TMEM127 NM_017849.3(TMEM127): c.364G> A (p.Ala122Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96254878: 96254878\n485 TMEM127 NM_017849.3(TMEM127): c.364G> A (p.Ala122Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96920616: 96920616\n486 TMEM127 NM_017849.3(TMEM127): c.95C> T (p.Ala32Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265287: 96265287\n487 TMEM127 NM_017849.3(TMEM127): c.95C> T (p.Ala32Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96931025: 96931025\n488 TMEM127 NM_017849.3(TMEM127): c.3G> A (p.Met1Ile) single nucleotide variant Uncertain significance rs121908814 GRCh37 Chromosome 2, 96931117: 96931117\n489 TMEM127 NM_017849.3(TMEM127): c.3G> A (p.Met1Ile) single nucleotide variant Uncertain significance rs121908814 GRCh38 Chromosome 2, 96265379: 96265379\n490 TMEM127 NM_017849.3(TMEM127): c.651C> T (p.Asn217=) single nucleotide variant Likely benign rs759801591 GRCh38 Chromosome 2, 96253874: 96253874\n491 TMEM127 NM_017849.3(TMEM127): c.651C> T (p.Asn217=) single nucleotide variant Likely benign rs759801591 GRCh37 Chromosome 2, 96919612: 96919612\n492 TMEM127 NM_017849.3(TMEM127): c.604G> A (p.Glu202Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96253921: 96253921\n493 TMEM127 NM_017849.3(TMEM127): c.604G> A (p.Glu202Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96919659: 96919659\n494 TMEM127 NM_017849.3(TMEM127): c.598C> T (p.Pro200Ser) single nucleotide variant Uncertain significance rs200351681 GRCh38 Chromosome 2, 96253927: 96253927\n495 TMEM127 NM_017849.3(TMEM127): c.598C> T (p.Pro200Ser) single nucleotide variant Uncertain significance rs200351681 GRCh37 Chromosome 2, 96919665: 96919665\n496 TMEM127 NM_017849.3(TMEM127): c.490T> C (p.Tyr164His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96919773: 96919773\n497 TMEM127 NM_017849.3(TMEM127): c.490T> C (p.Tyr164His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96254035: 96254035\n498 TMEM127 NM_017849.3(TMEM127): c.419G> T (p.Cys140Phe) single nucleotide variant Uncertain significance rs121908828 GRCh38 Chromosome 2, 96254106: 96254106\n499 TMEM127 NM_017849.3(TMEM127): c.419G> T (p.Cys140Phe) single nucleotide variant Uncertain significance rs121908828 GRCh37 Chromosome 2, 96919844: 96919844\n500 TMEM127 NM_017849.3(TMEM127): c.411T> A (p.Val137=) single nucleotide variant Likely benign rs760099422 GRCh37 Chromosome 2, 96919852: 96919852\n501 TMEM127 NM_017849.3(TMEM127): c.411T> A (p.Val137=) single nucleotide variant Likely benign rs760099422 GRCh38 Chromosome 2, 96254114: 96254114\n502 TMEM127 NM_017849.3(TMEM127): c.330T> C (p.Ala110=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 96920650: 96920650\n503 TMEM127 NM_017849.3(TMEM127): c.330T> C (p.Ala110=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 96254912: 96254912\n504 TMEM127 NM_017849.3(TMEM127): c.145G> A (p.Ala49Thr) single nucleotide variant Uncertain significance rs577020327 GRCh38 Chromosome 2, 96265237: 96265237\n505 TMEM127 NM_017849.3(TMEM127): c.145G> A (p.Ala49Thr) single nucleotide variant Uncertain significance rs577020327 GRCh37 Chromosome 2, 96930975: 96930975\n506 TMEM127 NM_017849.3(TMEM127): c.143T> C (p.Leu48Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 96930977: 96930977\n507 TMEM127 NM_017849.3(TMEM127): c.143T> C (p.Leu48Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 96265239: 96265239\n508 SDHAF2 NM_017841.2(SDHAF2): c.43G> T (p.Ala15Ser) single nucleotide variant Uncertain significance rs1002894711 GRCh38 Chromosome 11, 61437631: 61437631\n509 SDHAF2 NM_017841.2(SDHAF2): c.43G> T (p.Ala15Ser) single nucleotide variant Uncertain significance rs1002894711 GRCh37 Chromosome 11, 61205103: 61205103\n510 SDHAF2 NM_017841.2(SDHAF2): c.80G> A (p.Ser27Asn) single nucleotide variant Uncertain significance rs759472787 GRCh38 Chromosome 11, 61437668: 61437668\n511 SDHAF2 NM_017841.2(SDHAF2): c.80G> A (p.Ser27Asn) single nucleotide variant Uncertain significance rs759472787 GRCh37 Chromosome 11, 61205140: 61205140\n512 SDHAF2 NM_017841.2(SDHAF2): c.98G> A (p.Arg33His) single nucleotide variant Uncertain significance rs777442412 GRCh37 Chromosome 11, 61205158: 61205158\n513 SDHAF2 NM_017841.2(SDHAF2): c.98G> A (p.Arg33His) single nucleotide variant Uncertain significance rs777442412 GRCh38 Chromosome 11, 61437686: 61437686\n514 SDHAF2 NM_017841.2(SDHAF2): c.133A> G (p.Lys45Glu) single nucleotide variant Uncertain significance rs368945911 GRCh38 Chromosome 11, 61437721: 61437721\n515 SDHAF2 NM_017841.2(SDHAF2): c.133A> G (p.Lys45Glu) single nucleotide variant Uncertain significance rs368945911 GRCh37 Chromosome 11, 61205193: 61205193\n516 SDHAF2 NM_017841.2(SDHAF2): c.305_306insA (p.Asn103Glufs) insertion Pathogenic rs753554501 GRCh38 Chromosome 11, 61438048: 61438049\n517 SDHAF2 NM_017841.2(SDHAF2): c.305_306insA (p.Asn103Glufs) insertion Pathogenic rs753554501 GRCh37 Chromosome 11, 61205520: 61205521\n518 SDHAF2 NM_017841.2(SDHAF2): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61437806: 61437806\n519 SDHAF2 NM_017841.2(SDHAF2): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61205278: 61205278\n520 SDHAF2 NM_017841.2(SDHAF2): c.391A> T (p.Ile131Leu) single nucleotide variant Uncertain significance rs773580529 GRCh37 Chromosome 11, 61213433: 61213433\n521 SDHAF2 NM_017841.2(SDHAF2): c.391A> T (p.Ile131Leu) single nucleotide variant Uncertain significance rs773580529 GRCh38 Chromosome 11, 61445961: 61445961\n522 SDHAF2 NM_017841.2(SDHAF2): c.453G> A (p.Gln151=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 61213495: 61213495\n523 SDHAF2 NM_017841.2(SDHAF2): c.453G> A (p.Gln151=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 61446023: 61446023\n524 SDHAF2 NM_017841.2(SDHAF2): c.138C> G (p.Asp46Glu) single nucleotide variant Uncertain significance rs969049910 GRCh38 Chromosome 11, 61437726: 61437726\n525 SDHAF2 NM_017841.2(SDHAF2): c.138C> G (p.Asp46Glu) single nucleotide variant Uncertain significance rs969049910 GRCh37 Chromosome 11, 61205198: 61205198\n526 SDHAF2 NM_017841.2(SDHAF2): c.177dup (p.Asp60Terfs) duplication Pathogenic GRCh37 Chromosome 11, 61205237: 61205237\n527 SDHAF2 NM_017841.2(SDHAF2): c.177dup (p.Asp60Terfs) duplication Pathogenic GRCh38 Chromosome 11, 61437765: 61437765\n528 SDHAF2 NM_017841.2(SDHAF2): c.327T> A (p.Ile109=) single nucleotide variant Likely benign rs757670376 GRCh38 Chromosome 11, 61438070: 61438070\n529 SDHAF2 NM_017841.2(SDHAF2): c.327T> A (p.Ile109=) single nucleotide variant Likely benign rs757670376 GRCh37 Chromosome 11, 61205542: 61205542\n530 SDHAF2 NM_017841.2(SDHAF2): c.458T> C (p.Leu153Pro) single nucleotide variant Uncertain significance rs753711279 GRCh38 Chromosome 11, 61446028: 61446028\n531 SDHAF2 NM_017841.2(SDHAF2): c.458T> C (p.Leu153Pro) single nucleotide variant Uncertain significance rs753711279 GRCh37 Chromosome 11, 61213500: 61213500\n532 MAX NM_002382.4(MAX): c.296-1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65543382: 65543382\n533 MAX NM_002382.4(MAX): c.296-1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 65076664: 65076664\n534 MAX NM_002382.4(MAX): c.219T> A (p.Tyr73Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 65544707: 65544707\n535 MAX NM_002382.4(MAX): c.219T> A (p.Tyr73Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 65077989: 65077989\n536 MAX NM_002382.4(MAX): c.36+10G> C single nucleotide variant Likely benign GRCh37 Chromosome 14, 65569012: 65569012\n537 MAX NM_002382.4(MAX): c.36+10G> C single nucleotide variant Likely benign GRCh38 Chromosome 14, 65102294: 65102294\n538 MAX NM_002382.4(MAX): c.228delG (p.Asn78Thrfs) deletion Pathogenic GRCh38 Chromosome 14, 65077980: 65077980\n539 MAX NM_002382.4(MAX): c.228delG (p.Asn78Thrfs) deletion Pathogenic GRCh37 Chromosome 14, 65544698: 65544698\n540 MAX NM_002382.4(MAX): c.177C> G (p.Ser59=) single nucleotide variant Likely benign rs781103630 GRCh38 Chromosome 14, 65078031: 65078031\n541 MAX NM_002382.4(MAX): c.177C> G (p.Ser59=) single nucleotide variant Likely benign rs781103630 GRCh37 Chromosome 14, 65544749: 65544749\n542 MAX NM_002382.4(MAX): c.36+9T> C single nucleotide variant Likely benign rs774467253 GRCh38 Chromosome 14, 65102295: 65102295\n543 MAX NM_002382.4(MAX): c.36+9T> C single nucleotide variant Likely benign rs774467253 GRCh37 Chromosome 14, 65569013: 65569013\n544 MAX NM_002382.4(MAX): c.402C> T (p.Phe134=) single nucleotide variant Likely benign rs765370870 GRCh38 Chromosome 14, 65076557: 65076557\n545 MAX NM_002382.4(MAX): c.402C> T (p.Phe134=) single nucleotide variant Likely benign rs765370870 GRCh37 Chromosome 14, 65543275: 65543275\n546 MAX NM_002382.4(MAX): c.351C> T (p.Ser117=) single nucleotide variant Likely benign GRCh38 Chromosome 14, 65076608: 65076608\n547 MAX NM_002382.4(MAX): c.351C> T (p.Ser117=) single nucleotide variant Likely benign GRCh37 Chromosome 14, 65543326: 65543326\nExpression for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nSearch GEO for disease gene expression data for Hereditary Paraganglioma-Pheochromocytoma Syndromes.\nPathways for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nPathways related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:\n12.39 FH MAX RET VHL\n12.14 CIAO1 FH MDH2 SDHA SDHAF2\n11.96 FH MDH2 SDHA SDHB SDHC SDHD\n11.55 FH MDH2 SDHA SDHB SDHC SDHD\n11.46 FH MDH2 SDHA\n11.11 FH MDH2 SDHA SDHB SDHC SDHD\nGO Terms for Hereditary Paraganglioma-Pheochromocytoma Syndromes\nCellular components related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:\n1 mitochondrion GO:0005739 9.65 FH KIF1B MDH2 SDHA SDHAF2 SDHB\n2 mitochondrial inner membrane GO:0005743 9.63 MDH2 SDHA SDHB SDHC SDHD TIMM8B\n3 respiratory chain complex II GO:0045273 9.26 SDHB SDHC\n4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD\nBiological processes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:\n1 oxidation-reduction process GO:0055114 9.8 MDH2 SDHA SDHB SDHC SDHD\n2 electron transport chain GO:0022900 9.54 SDHA SDHB SDHC\n3 respiratory electron transport chain GO:0022904 9.43 SDHA SDHB\n4 aerobic respiration GO:0009060 9.33 MDH2 SDHB SDHC\n5 succinate metabolic process GO:0006105 9.32 SDHA SDHB\n6 malate metabolic process GO:0006108 9.26 FH MDH2\n7 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHA SDHAF2 SDHC SDHD\n8 tricarboxylic acid cycle GO:0006099 9.17 FH MDH2 SDHA SDHAF2 SDHB SDHC\nMolecular functions related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:\n2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC\n3 ubiquinone binding GO:0048039 9.26 SDHB SDHD\n4 succinate dehydrogenase activity GO:0000104 9.13 SDHA SDHC SDHD\n5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD\nSources for Hereditary Paraganglioma-Pheochromocytoma Syndromes


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Eritrea - Eritrea 2013 Decamara dromedaris camel flag cover\nEritrea 2013 Decamara dromedaris camel flag cover (Artikelnummer: #724276012)\nMontag, 2. September 2019 um 10:27\nMontag, 28. Oktober 2019 um 10:26