PUBMEDVariation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004168.3(SDHA):c.1909-12_1909-11delCT6389SDHAConflicting interpretations of pathogenicity372662724RCV000492532; RCV000337728; RCV000281629; RCV000394391; RCV000483037; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745256437256438-C0027672 Hereditary cancer-predisposing syndrome;
28492532 NM_004168.3(SDHA):c.441C>T (p.Pro147=)6389SDHAConflicting interpretations of pathogenicity201453889RCV000564203; RCV000332396; RCV000233726; RCV000389166; RCV000233726; RCV000274933; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005225662225662-C0027672 Hereditary cancer-predisposing syndrome;
28492532 NM_004168.3(SDHA):c.723C>T (p.Asp241=)6389SDHAConflicting interpretations of pathogenicity146653693RCV000562470; RCV000381733; RCV000334152; RCV000457962; RCV000457962; RCV000275715; RCV000423425; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005228401228401-C0027672 Hereditary cancer-predisposing syndrome;
28546994,28492532 NM_004168.3(SDHA):c.133G>A (p.Ala45Thr)6389SDHAConflicting interpretations of pathogenicity140736646RCV000572294; RCV000678682; RCV000308179; RCV000210508; RCV000401643; RCV000210508; RCV000410936; RCV000347454; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C2608055; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279995223666223666-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.-115T>C6389SDHALikely benign2303741RCV000338764; RCV000313041; RCV000400671; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218356218356-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-84dupC6389SDHALikely benign35805262RCV000307350; RCV000399941; RCV000370159; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218387218387-C0023264 256000 Leigh syndrome;
25741868 NM_004168.3(SDHA):c.-4A>G6389SDHABenign/Likely benign377134185RCV000572973; RCV000266213; RCV000323529; RCV000358590; RCV000251091; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745218467218467-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.309A>G (p.Ala103=)6389SDHABenign/Likely benign1139424RCV000162942; RCV000261547; RCV000385778; RCV000319629; RCV000118318; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745224633224633-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.619A>C (p.Arg207=)6389SDHABenign/Likely benign6555055RCV000162480; RCV000298743; RCV000263653; RCV000355926; RCV000118319; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745226160226160-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.684T>C (p.Asn228=)6389SDHABenign/Likely benign2115272RCV000162481; RCV000368927; RCV000311792; RCV000276689; RCV000118320; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745228362228362-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.771-11A>G6389SDHABenign/Likely benign2288461RCV000492269; RCV000281527; RCV000375985; RCV000330761; RCV000245369; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745230980230980-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.1038C>G (p.Ser346=)6389SDHABenign/Likely benign1041949RCV000162943; RCV000368680; RCV000274141; RCV000319420; RCV000118311; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745233734233734-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.1680G>A (p.Thr560=)6389SDHABenign/Likely benign1139449RCV000162436; RCV000298674; RCV000398522; RCV000353507; RCV000118314; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745251469251469-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.1752A>G (p.Ala584=)6389SDHABenign/Likely benign13070RCV000162485; RCV000268103; RCV000323384; RCV000359489; RCV000118315; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745251541251541-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.1908+15C>T6389SDHABenign/Likely benign34504623RCV000385355; RCV000294605; RCV000349503; RCV000249299; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745254636254636-C0023264 256000 Leigh syndrome;
25741868 NM_004168.3(SDHA):c.1932G>A (p.Val644=)6389SDHABenign/Likely benign6961RCV000162483; RCV000273207; RCV000358445; RCV000303618; RCV000118316; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745256472256472-C0027672 Hereditary cancer-predisposing syndrome;
25741868 NM_004168.3(SDHA):c.1969G>A (p.Val657Ile)6389SDHABenign/Likely benign6962RCV000162484; RCV000309260; RCV000269248; RCV000363917; RCV000118317; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745256509256509UniProtKB (protein):P31040#VAR_049217C0027672 Hereditary cancer-predisposing syndrome;
28492532 NM_004168.3(SDHA):c.163T>C (p.Tyr55His)6389SDHABenign/Likely benign142926807RCV000570704; RCV000360177; RCV000399750; RCV000464569; RCV000464569; RCV000303103; RCV000606498; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005224487224487-C0027672 Hereditary cancer-predisposing syndrome;
28492532 NM_004168.3(SDHA):c.549C>T (p.Gly183=)6389SDHABenign/Likely benign61733344RCV000571465; RCV000291747; RCV000239367; RCV000394814; RCV000239367; RCV000339713; RCV000418051; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005226090226090-C0027672 Hereditary cancer-predisposing syndrome;
28492532 NM_004168.3(SDHA):c.822C>T (p.Gly274=)6389SDHABenign/Likely benign34771391RCV000570502; RCV000287211; RCV000210510; RCV000317795; RCV000210510; RCV000372488; RCV000426962; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005231042231042-C0027672 Hereditary cancer-predisposing syndrome;
28492532 NM_004168.3(SDHA):c.1664-8G>A6389SDHABenign/Likely benign199790689RCV000312438; RCV000205034; RCV000396767; RCV000205034; RCV000367152; RCV000118313; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; Me5251445251445-C0023264 256000 Leigh syndrome;
28492532 NM_004168.3(SDHA):c.1911C>T (p.Val637=)6389SDHABenign/Likely benign11557098RCV000564874; RCV000343504; RCV000210496; RCV000402055; RCV000210496; RCV000298002; RCV000426571; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005256451256451-C0027672 Hereditary cancer-predisposing syndrome;
25741868,24033266 NM_004168.3(SDHA):c.891T>C (p.Pro297=)6389SDHABenign/Likely benign1126417RCV000162482; RCV000400279; RCV000347829; RCV000308030; RCV000118321; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:171300; MedGen:CN1693745231111231111-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.17G>A (p.Gly6Asp)6389SDHABenign/Likely benign187964306RCV000573807; RCV000349064; RCV000210499; RCV000374489; RCV000210499; RCV000411625; RCV000282383; RCV000224380; RCV000216190; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu5218487218487-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.113A>T (p.Asp38Val)6389SDHABenign/Likely benign34635677RCV000567706; RCV000352522; RCV000210535; RCV000387287; RCV000210535; RCV000295347; RCV000245657; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005223646223646UniProtKB (protein):P31040#VAR_049215C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.550G>A (p.Gly184Arg)6389SDHABenign/Likely benign148246073RCV000575599; RCV000390055; RCV000204241; RCV000343277; RCV000204241; RCV000304507; RCV000514856; RCV000607544; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005226091226091-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.969C>T (p.Gly323=)6389SDHABenign/Likely benign142849100RCV000129664; RCV000362684; RCV000203785; RCV000314076; RCV000203785; RCV000399972; RCV000246464; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005233665233665-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.1170C>T (p.Phe390=)6389SDHABenign/Likely benign35277230RCV000163257; RCV000379943; RCV000321449; RCV000470511; RCV000470511; RCV000285173; RCV000118312; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005235364235364-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.1305G>T (p.Leu435=)6389SDHABenign/Likely benign35964044RCV000565630; RCV000291485; RCV000210529; RCV000346462; RCV000210529; RCV000376037; RCV000242588; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005236587236587-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.1776T>C (p.His592=)6389SDHABenign/Likely benign1126538RCV000130494; RCV000383884; RCV000205292; RCV000329216; RCV000205292; RCV000264789; RCV000243217; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005251565251565-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868,20484225,17376234 NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe)6389SDHABenign/Likely benign6960RCV000492773; RCV000389777; RCV000210491; RCV000270762; RCV000210491; RCV000325852; RCV000243534; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005254599254599UniProtKB (protein):P31040#VAR_071037C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.-63G>A6389SDHAUncertain significance886060513RCV000329506; RCV000272151; RCV000364389; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218408218408-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.-1C>T6389SDHAUncertain significance560932680RCV000279041; RCV000317717; RCV000380480; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005218470218470-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.269T>C (p.Val90Ala)6389SDHAUncertain significance886060514RCV000267910; RCV000297336; RCV000354574; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005224593224593-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.1092C>T (p.Val364=)6389SDHAUncertain significance886060515RCV000316002; RCV000260734; RCV000355512; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005235286235286-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*75A>G6389SDHAUncertain significance886060517RCV000375689; RCV000330444; RCV000279520; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256610256610-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*133G>C6389SDHAUncertain significance193112615RCV000285270; RCV000379866; RCV000334630; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256668256668-C0023264 256000 Leigh syndrome;
NM_004168.3(SDHA):c.*189C>T6389SDHAUncertain significance185107377RCV000340216; RCV000309761; RCV000396725; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005256724256724-C0023264 256000 Leigh syndrome;
25741868 NM_004168.3(SDHA):c.1794+105dup6389SDHAUncertain significance-1RCV000714539; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700055251688251688-
28492532 NM_004168.3(SDHA):c.442G>A (p.Ala148Thr)6389SDHAUncertain significance375576259RCV000572868; RCV000287726; RCV000228365; RCV000383376; RCV000228365; RCV000345164; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005225663225663-C0027672 Hereditary cancer-predisposing syndrome;
28492532 NM_004168.3(SDHA):c.1580G>A (p.Arg527His)6389SDHAUncertain significance766352407RCV000396802; RCV000287976; RCV000461471; RCV000461471; RCV000352061; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:0002666,MedGen:C0031511,OMIM:1713005251135251135-C0023264 256000 Leigh syndrome;
28492532,25741868 NM_004168.3(SDHA):c.1462G>A (p.Ala488Thr)6389SDHAUncertain significance369100772RCV000562914; RCV000714730; RCV000468600; RCV000714731; RCV000468600; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:6141655240502240502-C0027672 Hereditary cancer-predisposing syndrome;
28492532,25741868 NM_004168.3(SDHA):c.1973C>T (p.Pro658Leu)6389SDHAUncertain significance377632619RCV000217918; RCV000388419; RCV000275247; RCV000649461; RCV000649461; RCV000333745; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; Human Phenotype Ontology:HP:005256513256513-C0027672 Hereditary cancer-predisposing syndrome;
28492532,28384794,25394176 NM_004168.3(SDHA):c.830C>T (p.Thr277Met)6389SDHAUncertain significance367721665RCV000570331; RCV000283732; RCV000228322; RCV000396726; RCV000228322; RCV000411374; RCV000342145; RCV000208222; NMedGen:C0027672,SNOMED CT:699346009; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C1855008,OMIM:252011, Orphanet:ORPHA3208; MedGen:C3279992,OMIM:614165; MedGen:C3279992,OMIM:614165; Hu5231050231050-C0027672 Hereditary cancer-predisposing syndrome;
NM_004168.3(SDHA):c.685G>A (p.Gly229Arg)6389SDHAnot provided41495051RCV000509324; RCV000509324; NMedGen:C3150898,OMIM:613642; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:295700055228363228363-C3150898 613642 Dilated cardiomyopathy 1GG;