| NM_004168.4(SDHA):c.1627T>C (p.Tyr543His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012481]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000551034]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002491085] |
Chr5:251067 [GRCh38]
Chr5:251182 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.822C>A (p.Gly274=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000551101] |
Chr5:230927 [GRCh38]
Chr5:231042 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.373G>A (p.Asp125Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350354]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000528854]|not specified [RCV001821586] |
Chr5:225479 [GRCh38]
Chr5:225594 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1350C>T (p.Asn450=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565044]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649477]|not provided [RCV003478295] |
Chr5:236517 [GRCh38]
Chr5:236632 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1064+2T>A |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476301]|Hereditary cancer-predisposing syndrome [RCV000569896]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000525989] |
Chr5:233647 [GRCh38]
Chr5:233762 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1873C>T (p.His625Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000524624] |
Chr5:254471 [GRCh38]
Chr5:254586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.584G>A (p.Arg195Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358584]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000544157]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002491086] |
Chr5:226010 [GRCh38]
Chr5:226125 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1572C>G (p.Ala524=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404525]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000550313] |
Chr5:251012 [GRCh38]
Chr5:251127 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.429G>A (p.Thr143=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330949]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000550383]|SDHA-related condition [RCV003962567] |
Chr5:225535 [GRCh38]
Chr5:225650 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1524A>G (p.Thr508=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395446]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000544975] |
Chr5:240449 [GRCh38]
Chr5:240564 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1290G>A (p.Gln430=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384220]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000545202] |
Chr5:236457 [GRCh38]
Chr5:236572 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1894G>A (p.Val632Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013519]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000525826] |
Chr5:254492 [GRCh38]
Chr5:254607 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1926A>G (p.Arg642=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413609]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000545820] |
Chr5:256351 [GRCh38]
Chr5:256466 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1770C>T (p.Gly590=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404528]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000547065] |
Chr5:251444 [GRCh38]
Chr5:251559 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1702C>G (p.Leu568Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000527972] |
Chr5:251376 [GRCh38]
Chr5:251491 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.558_567del (p.His187fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000563934] |
Chr5:225982..225991 [GRCh38]
Chr5:226097..226106 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1273G>T (p.Val425Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573766]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000532863] |
Chr5:236440 [GRCh38]
Chr5:236555 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1308C>T (p.Tyr436=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010906]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000550792]|Paragangliomas 5 [RCV003316718]|SDHA-related condition [RCV003905430] |
Chr5:236475 [GRCh38]
Chr5:236590 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1476T>C (p.Ser492=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395445]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000543040] |
Chr5:240401 [GRCh38]
Chr5:240516 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1272C>T (p.His424=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561553]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000556683]|SDHA-related condition [RCV003962565] |
Chr5:236439 [GRCh38]
Chr5:236554 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404527]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000551366] |
Chr5:251043 [GRCh38]
Chr5:251158 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.457-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256390]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000554430] |
Chr5:225879 [GRCh38]
Chr5:225994 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.896-4G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448768]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000543768]|Paragangliomas 5 [RCV003316720] |
Chr5:233473 [GRCh38]
Chr5:233588 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1614A>G (p.Lys538=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395447]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000526113] |
Chr5:251054 [GRCh38]
Chr5:251169 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1233C>A (p.Gly411=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377145]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000532183] |
Chr5:235312 [GRCh38]
Chr5:235427 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1832del (p.Gln611fs) |
deletion |
Dilated cardiomyopathy 1GG [RCV003476323]|Hereditary cancer-predisposing syndrome [RCV000568850] |
Chr5:254430 [GRCh38]
Chr5:254545 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1216G>A (p.Val406Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562001]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649439] |
Chr5:235295 [GRCh38]
Chr5:235410 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.688del (p.Glu230fs) |
deletion |
Dilated cardiomyopathy 1GG [RCV003476305]|Hereditary cancer-predisposing syndrome [RCV000566076]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000551986]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002491084]|Paragangliomas 5 [RCV000853371]|not provided [RCV001783056] |
Chr5:228248 [GRCh38]
Chr5:228363 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571189]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000555353]|Paragangliomas 5 [RCV003335474] |
Chr5:225988 [GRCh38]
Chr5:226103 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1428G>A (p.Arg476=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011491]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000529616] |
Chr5:236595 [GRCh38]
Chr5:236710 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1707G>A (p.Gln569=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567195]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000922848] |
Chr5:251381 [GRCh38]
Chr5:251496 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.942G>A (p.Glu314=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377148]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000544759] |
Chr5:233523 [GRCh38]
Chr5:233638 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-4C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012643]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000527162]|SDHA-related condition [RCV003945289] |
Chr5:251334 [GRCh38]
Chr5:251449 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.188A>T (p.Asp63Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003159902]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000549810] |
Chr5:224397 [GRCh38]
Chr5:224512 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000530424] |
Chr5:240381 [GRCh38]
Chr5:240496 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.306A>G (p.Ala102=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449089]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001394481] |
Chr5:224515 [GRCh38]
Chr5:224630 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1410C>T (p.Ser470=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011405]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000542300]|Paragangliomas 5 [RCV003316719]|not provided [RCV003478179] |
Chr5:236577 [GRCh38]
Chr5:236692 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1775A>G (p.His592Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404529]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000543362] |
Chr5:251449 [GRCh38]
Chr5:251564 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1864T>C (p.Trp622Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563307]|not provided [RCV003441944] |
Chr5:254462 [GRCh38]
Chr5:254577 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024356]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000531381]|Paragangliomas 5 [RCV003335449]|not provided [RCV000518854]|not specified [RCV003330742] |
Chr5:225989 [GRCh38]
Chr5:226104 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413610]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000545606] |
Chr5:256368 [GRCh38]
Chr5:256483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1929C>T (p.Pro643=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562383]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000552289]|SDHA-related condition [RCV003952831] |
Chr5:256354 [GRCh38]
Chr5:256469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.107C>T (p.Thr36Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003471906]|Hereditary cancer-predisposing syndrome [RCV000563141]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001242428] |
Chr5:223525 [GRCh38]
Chr5:223640 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.664T>G (p.Leu222Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367927]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000545927] |
Chr5:228227 [GRCh38]
Chr5:228342 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1001C>T (p.Ala334Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009632]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000546125]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002483478]|not provided [RCV002272285] |
Chr5:233582 [GRCh38]
Chr5:233697 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1806T>C (p.Asp602=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413605]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000543136] |
Chr5:254404 [GRCh38]
Chr5:254519 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.411T>A (p.Asp137Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000525177] |
Chr5:225517 [GRCh38]
Chr5:225632 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000560981]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001859971] |
Chr5:224359 [GRCh38]
Chr5:224474 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1065-4C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573469]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000543416] |
Chr5:235140 [GRCh38]
Chr5:235255 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1064+3G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562188]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001062134] |
Chr5:233648 [GRCh38]
Chr5:233763 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350352]|Leigh syndrome [RCV000765833]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000528318] |
Chr5:235229 [GRCh38]
Chr5:235344 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-4A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000544427] |
Chr5:236424 [GRCh38]
Chr5:236539 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.86G>A (p.Gly29Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018205]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000542539]|not provided [RCV001755880] |
Chr5:223504 [GRCh38]
Chr5:223619 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561376]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001853800] |
Chr5:235269 [GRCh38]
Chr5:235384 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.242C>T (p.Ser81Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000546249] |
Chr5:224451 [GRCh38]
Chr5:224566 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1769del (p.Gly590fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000530189] |
Chr5:251440 [GRCh38]
Chr5:251555 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.40C>A (p.Arg14=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021865]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000549482] |
Chr5:218395 [GRCh38]
Chr5:218510 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.313-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572784]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000534970] |
Chr5:225416 [GRCh38]
Chr5:225531 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1044T>A (p.Thr348=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564316]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001419846] |
Chr5:233625 [GRCh38]
Chr5:233740 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1923T>C (p.Tyr641=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571470]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000533337]|SDHA-related condition [RCV003980003] |
Chr5:256348 [GRCh38]
Chr5:256463 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1193A>T (p.Glu398Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564167] |
Chr5:235272 [GRCh38]
Chr5:235387 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.834C>T (p.Ala278=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573575]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000540465] |
Chr5:230939 [GRCh38]
Chr5:231054 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562151]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000560589]|SDHA-related condition [RCV003409812]|not provided [RCV001755879] |
Chr5:251461 [GRCh38]
Chr5:251576 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.448G>A (p.Val150Met) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003471904]|Hereditary cancer-predisposing syndrome [RCV000562589]|Leigh syndrome [RCV000764601]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000695590]|Multiple endocrine neoplasia, type 2a [RCV003328100] |
Chr5:225554 [GRCh38]
Chr5:225669 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413603]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000531820] |
Chr5:235329 [GRCh38]
Chr5:235444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574670]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000549321]|not provided [RCV001572933]|not specified [RCV001528282] |
Chr5:236563 [GRCh38]
Chr5:236678 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.757_758del (p.Val253fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001381444]|Paragangliomas 5 [RCV000576361] |
Chr5:228319..228320 [GRCh38]
Chr5:228434..228435 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.-2A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564955]|Hereditary pheochromocytoma-paraganglioma [RCV001153197]|Leigh syndrome [RCV001153196]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001151934]|not provided [RCV003139877] |
Chr5:218354 [GRCh38]
Chr5:218469 [GRCh37]
Chr5:5p15.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358582]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000526540] |
Chr5:235293 [GRCh38]
Chr5:235408 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476303]|Hereditary cancer-predisposing syndrome [RCV000566587]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000555437]|SDHA-Related Disorders [RCV000779471]|SDHA-related condition [RCV003409811]|not provided [RCV001093472] |
Chr5:240396 [GRCh38]
Chr5:240511 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476306]|Hereditary cancer-predisposing syndrome [RCV000564411]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000544502]|Paragangliomas 5 [RCV002291665]|Primary dilated cardiomyopathy [RCV003451191]|not provided [RCV003319374] |
Chr5:235313 [GRCh38]
Chr5:235428 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.413C>T (p.Ala138Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000542175] |
Chr5:225519 [GRCh38]
Chr5:225634 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000525154] |
Chr5:236563 [GRCh38]
Chr5:236678 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.828C>T (p.Gly276=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000547755] |
Chr5:230933 [GRCh38]
Chr5:231048 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.999C>G (p.Val333=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019964]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000525741]|SDHA-related condition [RCV003952832] |
Chr5:233580 [GRCh38]
Chr5:233695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476308]|Hereditary cancer-predisposing syndrome [RCV001011154]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000548237] |
Chr5:236524 [GRCh38]
Chr5:236639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.336G>C (p.Gly112=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456217]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000548300] |
Chr5:225442 [GRCh38]
Chr5:225557 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) |
single nucleotide variant |
Diffuse midline glioma, H3 K27-altered [RCV003315222]|Dilated cardiomyopathy 1GG [RCV003473060]|Hereditary cancer-predisposing syndrome [RCV000573113]|Leigh syndrome [RCV000790927]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000009281]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000456631]|not provided [RCV001818148] |
Chr5:251100 [GRCh38]
Chr5:251215 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473061]|Hereditary cancer-predisposing syndrome [RCV002399314]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000009282]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649458]|not provided [RCV000520939] |
Chr5:251011 [GRCh38]
Chr5:251126 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415407]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000009283]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001233940]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV003234897]|Paragangliomas 5 [RCV003450622] |
Chr5:218356 [GRCh38]
Chr5:218471 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV000009286]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000009284]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001221088] |
Chr5:251338 [GRCh38]
Chr5:251453 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473121]|Gastrointestinal stromal tumor [RCV001799611]|Hereditary cancer-predisposing syndrome [RCV000564186]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000554026]|Paragangliomas 5 [RCV000023042]|not provided [RCV003162258] |
Chr5:251439 [GRCh38]
Chr5:251554 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000050295] |
Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563852]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000032785]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000232220]|not provided [RCV001719715]|not specified [RCV001818204] |
Chr5:240448 [GRCh38]
Chr5:240563 [GRCh37]
Chr5:5p15.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000032786]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000695865] |
Chr5:240451 [GRCh38]
Chr5:240566 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 |
copy number loss |
See cases [RCV000050885] |
Chr5:22149..3404244 [GRCh38]
Chr5:22149..3404358 [GRCh37]
Chr5:75149..3457358 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 |
copy number loss |
See cases [RCV000050655] |
Chr5:22149..1826256 [GRCh38]
Chr5:22149..1826370 [GRCh37]
Chr5:75149..1879370 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 |
copy number loss |
See cases [RCV000051100] |
Chr5:49978..4014647 [GRCh38]
Chr5:50093..4014761 [GRCh37]
Chr5:103093..4067761 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:138272-710438)x3 |
copy number gain |
See cases [RCV000051102] |
Chr5:138272..710438 [GRCh38]
Chr5:138387..710553 [GRCh37]
Chr5:191387..763553 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 |
copy number gain |
See cases [RCV000051811] |
Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 |
copy number gain |
See cases [RCV000051808] |
Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 |
copy number gain |
See cases [RCV000051809] |
Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 |
copy number gain |
See cases [RCV000051810] |
Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 |
copy number loss |
See cases [RCV000053397] |
Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 |
copy number loss |
See cases [RCV000053398] |
Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 |
copy number loss |
See cases [RCV000053399] |
Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 |
copy number loss |
See cases [RCV000053400] |
Chr5:22149..3556942 [GRCh38]
Chr5:22149..3557056 [GRCh37]
Chr5:75149..3610056 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] |
Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 |
copy number loss |
See cases [RCV000053416] |
Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] |
Chr5:22149..4580491 [GRCh38]
Chr5:22149..4580604 [GRCh37]
Chr5:75149..4633604 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] |
Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 |
copy number loss |
See cases [RCV000053419] |
Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 |
copy number loss |
See cases [RCV000053420] |
Chr5:37694..2746908 [GRCh38]
Chr5:37692..2747022 [GRCh37]
Chr5:90692..2800022 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 |
copy number loss |
See cases [RCV000053421] |
Chr5:37694..2913205 [GRCh38]
Chr5:37692..2913319 [GRCh37]
Chr5:90692..2966319 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 |
copy number loss |
See cases [RCV000053422] |
Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 |
copy number loss |
See cases [RCV000053423] |
Chr5:49778..4768868 [GRCh38]
Chr5:49893..4768981 [GRCh37]
Chr5:102893..4821981 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 |
copy number loss |
See cases [RCV000053424] |
Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 |
copy number loss |
See cases [RCV000053444] |
Chr5:54839..5603401 [GRCh38]
Chr5:54954..5603514 [GRCh37]
Chr5:107954..5656514 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| NM_004168.4(SDHA):c.1680G>A (p.Thr560=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162436]|Hereditary pheochromocytoma-paraganglioma [RCV000353507]|Leigh syndrome [RCV000298674]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000398522]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001513597]|Paragangliomas 5 [RCV003315678]|not provided [RCV001705857]|not specified [RCV000118314] |
Chr5:251354 [GRCh38]
Chr5:251469 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1038C>G (p.Ser346=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162943]|Hereditary pheochromocytoma-paraganglioma [RCV000319420]|Leigh syndrome [RCV000368680]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000274141]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001509671]|Paragangliomas 5 [RCV003315675]|not provided [RCV001711288]|not specified [RCV000118311] |
Chr5:233619 [GRCh38]
Chr5:233734 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1170C>T (p.Phe390=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000163257]|Hereditary pheochromocytoma-paraganglioma [RCV000285173]|Leigh syndrome [RCV000379943]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000321449]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000470511]|Paragangliomas 5 [RCV003315676]|not specified [RCV000118312] |
Chr5:235249 [GRCh38]
Chr5:235364 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1664-8G>A |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV000367152]|Leigh syndrome [RCV000312438]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000205034]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000396767]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002477296]|Paragangliomas 5 [RCV003315677]|SDHA-related condition [RCV003915169]|not provided [RCV003736577]|not specified [RCV000118313] |
Chr5:251330 [GRCh38]
Chr5:251445 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1752A>G (p.Ala584=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162485]|Hereditary pheochromocytoma-paraganglioma [RCV000359489]|Leigh syndrome [RCV000268103]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000323384]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001513598]|Paragangliomas 5 [RCV003315679]|not provided [RCV001705858]|not specified [RCV000118315] |
Chr5:251426 [GRCh38]
Chr5:251541 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1932G>A (p.Val644=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162483]|Hereditary pheochromocytoma-paraganglioma [RCV000303618]|Leigh syndrome [RCV000273207]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000358445]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001513599]|Paragangliomas 5 [RCV003315680]|SDHA-related condition [RCV003891627]|not provided [RCV001705859]|not specified [RCV000118316] |
Chr5:256357 [GRCh38]
Chr5:256472 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162484]|Hereditary pheochromocytoma-paraganglioma [RCV000363917]|Leigh syndrome [RCV000309260]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000269248]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001513600]|Paragangliomas 5 [RCV003315681]|SDHA-related condition [RCV003891628]|not provided [RCV001705860]|not specified [RCV000118317] |
Chr5:256394 [GRCh38]
Chr5:256509 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.309A>G (p.Ala103=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162942]|Hereditary pheochromocytoma-paraganglioma [RCV000319629]|Leigh syndrome [RCV000261547]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000385778]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001509667]|Paragangliomas 5 [RCV003315682]|not provided [RCV001705861]|not specified [RCV000118318] |
Chr5:224518 [GRCh38]
Chr5:224633 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.619A>C (p.Arg207=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162480]|Hereditary pheochromocytoma-paraganglioma [RCV000355926]|Leigh syndrome [RCV000298743]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000263653]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001509668]|Paragangliomas 5 [RCV003315683]|not provided [RCV001705862]|not specified [RCV000118319] |
Chr5:226045 [GRCh38]
Chr5:226160 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.684T>C (p.Asn228=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162481]|Hereditary pheochromocytoma-paraganglioma [RCV000276689]|Leigh syndrome [RCV000368927]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000311792]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001509669]|Paragangliomas 5 [RCV003315684]|not provided [RCV001705863]|not specified [RCV000118320] |
Chr5:228247 [GRCh38]
Chr5:228362 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.891T>C (p.Pro297=) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV001544164]|Hereditary cancer-predisposing syndrome [RCV000162482]|Hereditary pheochromocytoma-paraganglioma [RCV000308030]|Leigh syndrome [RCV000400279]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000347829]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001509670]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001544165]|Paragangliomas 5 [RCV003315685]|not provided [RCV001711387]|not specified [RCV000118321] |
Chr5:230996 [GRCh38]
Chr5:231111 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 |
copy number loss |
See cases [RCV001310287] |
Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_004168.4(SDHA):c.321C>G (p.Ile107Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322166]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001248524] |
Chr5:225427 [GRCh38]
Chr5:225542 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.338A>T (p.Asn113Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451617]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001248525] |
Chr5:225444 [GRCh38]
Chr5:225559 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.560A>G (p.His187Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001303050] |
Chr5:225986 [GRCh38]
Chr5:226101 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 |
copy number gain |
See cases [RCV000133788] |
Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 |
copy number loss |
See cases [RCV000133796] |
Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_004168.4(SDHA):c.63G>A (p.Ala21=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130309]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001304201] |
Chr5:218418 [GRCh38]
Chr5:218533 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130407]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000228248]|Paragangliomas 5 [RCV000410621]|SDHA-related condition [RCV003925278]|not provided [RCV001704054]|not specified [RCV001818312] |
Chr5:223564 [GRCh38]
Chr5:223679 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1776T>C (p.His592=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130494]|Hereditary pheochromocytoma-paraganglioma [RCV000264789]|Leigh syndrome [RCV000383884]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000205292]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000329216]|Paragangliomas 5 [RCV003315895]|not provided [RCV003736602]|not specified [RCV000243217] |
Chr5:251450 [GRCh38]
Chr5:251565 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.512G>A (p.Arg171His) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003474764]|Gastrointestinal stromal tumor [RCV001799623]|Hereditary cancer-predisposing syndrome [RCV000130572]|Hereditary pheochromocytoma-paraganglioma [RCV001153309]|Leigh syndrome [RCV001153308]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000466700]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153307]|not provided [RCV000512840] |
Chr5:225938 [GRCh38]
Chr5:226053 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.667del (p.Asp223fs) |
deletion |
Dilated cardiomyopathy 1GG [RCV003474765]|Hereditary cancer-predisposing syndrome [RCV000130573]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000527052]|not provided [RCV001008075] |
Chr5:228229 [GRCh38]
Chr5:228344 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) |
single nucleotide variant |
Carney triad [RCV000170328]|Dilated cardiomyopathy 1GG [RCV003474779]|Gastrointestinal stromal tumor [RCV001799624]|Hereditary cancer-predisposing syndrome [RCV000131808]|Leigh syndrome [RCV001089554]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000627791]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001762318]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002478402]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV003330507]|Paragangliomas 5 [RCV000148026]|Pilocytic astrocytoma [RCV000722034]|Rhabdomyosarcoma [RCV001257553]|SDHA-Related Disorders [RCV003335126]|not provided [RCV000413945] |
Chr5:223509 [GRCh38]
Chr5:223624 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.969C>T (p.Gly323=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129664]|Hereditary pheochromocytoma-paraganglioma [RCV000399972]|Leigh syndrome [RCV000362684]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000203785]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000314076]|Paragangliomas 5 [RCV003315880]|not provided [RCV001357190]|not specified [RCV000246464] |
Chr5:233550 [GRCh38]
Chr5:233665 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129906]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649428]|Paragangliomas 5 [RCV000409578]|not specified [RCV001818307] |
Chr5:230923 [GRCh38]
Chr5:231038 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129921]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000791490] |
Chr5:240466 [GRCh38]
Chr5:240581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33(chr5:220313-470506)x3 |
copy number gain |
See cases [RCV000133713] |
Chr5:220313..470506 [GRCh38]
Chr5:220428..470621 [GRCh37]
Chr5:273428..523621 [NCBI36]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003474794]|Hereditary cancer-predisposing syndrome [RCV000163558]|Leigh syndrome [RCV000765834]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000464783]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001824123]|Paragangliomas 5 [RCV000148027]|not provided [RCV000762143] |
Chr5:251427 [GRCh38]
Chr5:251542 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 |
copy number loss |
See cases [RCV000133768] |
Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-221160)x1 |
copy number loss |
See cases [RCV000134287] |
Chr5:22149..221160 [GRCh38]
Chr5:22149..221275 [GRCh37]
Chr5:75149..274275 [NCBI36]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33(chr5:234045-292564)x3 |
copy number gain |
See cases [RCV000134637] |
Chr5:234045..292564 [GRCh38]
Chr5:234160..292679 [GRCh37]
Chr5:287160..345679 [NCBI36]
Chr5:5p15.33 |
benign |
| GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 |
copy number gain |
See cases [RCV000135393] |
Chr5:22149..1278576 [GRCh38]
Chr5:22149..1278691 [GRCh37]
Chr5:75149..1331691 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 |
copy number loss |
See cases [RCV000134873] |
Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:151622-234045)x3 |
copy number gain |
See cases [RCV000135241] |
Chr5:151622..234045 [GRCh38]
Chr5:151737..234160 [GRCh37]
Chr5:204737..287160 [NCBI36]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 |
copy number loss |
See cases [RCV000135668] |
Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 |
copy number loss |
See cases [RCV000135878] |
Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 |
copy number gain |
See cases [RCV000135453] |
Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 |
copy number loss |
See cases [RCV000136556] |
Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 |
copy number loss |
See cases [RCV000136900] |
Chr5:22149..1429599 [GRCh38]
Chr5:22149..1429714 [GRCh37]
Chr5:75149..1482714 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 |
copy number loss |
See cases [RCV000137072] |
Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 |
copy number gain |
See cases [RCV000136943] |
Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 |
copy number gain |
See cases [RCV000137682] |
Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic|uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 |
copy number loss |
See cases [RCV000137165] |
Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 |
copy number loss |
See cases [RCV000138116] |
Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 |
copy number loss |
See cases [RCV000138215] |
Chr5:22149..6060102 [GRCh38]
Chr5:22149..6060215 [GRCh37]
Chr5:75149..6113215 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 |
copy number loss |
See cases [RCV000138099] |
Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-946680)x1 |
copy number loss |
See cases [RCV000138166] |
Chr5:22149..946680 [GRCh38]
Chr5:22149..946795 [GRCh37]
Chr5:75149..999795 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 |
copy number loss |
See cases [RCV000137942] |
Chr5:22149..4260151 [GRCh38]
Chr5:22149..4260264 [GRCh37]
Chr5:75149..4313264 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 |
copy number loss |
See cases [RCV000137884] |
Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 |
copy number loss |
See cases [RCV000137915] |
Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 |
copy number gain |
See cases [RCV000137806] |
Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 |
copy number loss |
See cases [RCV000138888] |
Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 |
copy number loss |
See cases [RCV000138553] |
Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 |
copy number loss |
See cases [RCV000138288] |
Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1 |
likely benign |
| GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 |
copy number gain |
See cases [RCV000139303] |
Chr5:22149..2323943 [GRCh38]
Chr5:22149..2324057 [GRCh37]
Chr5:75149..2377057 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-658446)x1 |
copy number loss |
See cases [RCV000140334] |
Chr5:22149..658446 [GRCh38]
Chr5:22149..658561 [GRCh37]
Chr5:75149..711561 [NCBI36]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33(chr5:22149-3619159) |
copy number gain |
See cases [RCV000139908] |
Chr5:22149..3619159 [GRCh38]
Chr5:22149..3619273 [GRCh37]
Chr5:75149..3672273 [NCBI36]
Chr5:5p15.33 |
uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 |
copy number loss |
See cases [RCV000141225] |
Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 |
copy number loss |
See cases [RCV000141244] |
Chr5:22149..4833626 [GRCh38]
Chr5:22149..4833739 [GRCh37]
Chr5:75149..4886739 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-356107)x1 |
copy number loss |
See cases [RCV000140962] |
Chr5:22149..356107 [GRCh38]
Chr5:22149..356222 [GRCh37]
Chr5:75149..409222 [NCBI36]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 |
copy number loss |
See cases [RCV000140964] |
Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 |
copy number loss |
See cases [RCV000141930] |
Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 |
copy number loss |
See cases [RCV000141844] |
Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 |
copy number loss |
See cases [RCV000141898] |
Chr5:113461..6243977 [GRCh38]
Chr5:113576..6244090 [GRCh37]
Chr5:166576..6297090 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 |
copy number loss |
See cases [RCV000142183] |
Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 |
copy number loss |
See cases [RCV000143022] |
Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 |
copy number loss |
See cases [RCV000143018] |
Chr5:22149..5059896 [GRCh38]
Chr5:22149..5060009 [GRCh37]
Chr5:75149..5113009 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 |
copy number loss |
See cases [RCV000142934] |
Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 |
copy number loss |
See cases [RCV000142697] |
Chr5:95128..5834551 [GRCh38]
Chr5:95243..5834664 [GRCh37]
Chr5:148243..5887664 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 |
copy number loss |
See cases [RCV000142645] |
Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 |
copy number gain |
See cases [RCV000142646] |
Chr5:22149..1659135 [GRCh38]
Chr5:22149..1659250 [GRCh37]
Chr5:75149..1712250 [NCBI36]
Chr5:5p15.33 |
pathogenic |
| GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 |
copy number loss |
See cases [RCV000143332] |
Chr5:22149..5102586 [GRCh38]
Chr5:22149..5102699 [GRCh37]
Chr5:75149..5155699 [NCBI36]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000148250] |
Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_004168.4(SDHA):c.295C>T (p.His99Tyr) |
single nucleotide variant |
Carney triad [RCV000170329] |
Chr5:224504 [GRCh38]
Chr5:224619 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| SDHA, ARG585TRP |
variation |
Paragangliomas 5 [RCV000191049] |
|
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 |
copy number loss |
See cases [RCV000515550] |
Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_004168.4(SDHA):c.1591G>A (p.Val531Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573905]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000226464]|Paragangliomas 5 [RCV000410380]|not provided [RCV001093473]|not specified [RCV000193391] |
Chr5:251031 [GRCh38]
Chr5:251146 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.994C>G (p.Pro332Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003474947]|Hereditary cancer-predisposing syndrome [RCV000563954]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000229794]|not provided [RCV001558313]|not specified [RCV000194437] |
Chr5:233575 [GRCh38]
Chr5:233690 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1274T>G (p.Val425Gly) |
single nucleotide variant |
Paragangliomas 5 [RCV000663178]|not specified [RCV000195027] |
Chr5:236441 [GRCh38]
Chr5:236556 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003474945]|Hereditary cancer-predisposing syndrome [RCV000575496]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000684793]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002492875]|Paragangliomas 5 [RCV000191050]|not provided [RCV000481058] |
Chr5:224432 [GRCh38]
Chr5:224547 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 |
copy number loss |
See cases [RCV000240157] |
Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3 |
likely pathogenic |
| NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575599]|Hereditary pheochromocytoma-paraganglioma [RCV000304507]|Leigh syndrome [RCV000390055]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000343277]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001080182]|Paragangliomas 5 [RCV003316148]|not provided [RCV000514856]|not specified [RCV000607544] |
Chr5:225976 [GRCh38]
Chr5:226091 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003474987]|Hereditary cancer-predisposing syndrome [RCV001013731]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000204436]|not provided [RCV003441788] |
Chr5:256376 [GRCh38]
Chr5:256491 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562815]|Leigh syndrome [RCV001197548]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000203953]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002478742]|Paragangliomas 5 [RCV000410184]|not provided [RCV001582713] |
Chr5:228267 [GRCh38]
Chr5:228382 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 |
copy number loss |
See cases [RCV000449075] |
Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_004168.4(SDHA):c.830C>T (p.Thr277Met) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003474989]|Hereditary cancer-predisposing syndrome [RCV000570331]|Hereditary pheochromocytoma-paraganglioma [RCV000342145]|Leigh syndrome [RCV000283732]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000228322]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000396726]|Paragangliomas 5 [RCV000411374]|Skeletal myopathy [RCV000208222]|not provided [RCV002510820] |
Chr5:230935 [GRCh38]
Chr5:231050 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1183G>T (p.Val395Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330948]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000524573] |
Chr5:235262 [GRCh38]
Chr5:235377 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.923C>T (p.Thr308Met) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799682]|Hereditary cancer-predisposing syndrome [RCV000563497]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000560478]|not provided [RCV003237920] |
Chr5:233504 [GRCh38]
Chr5:233619 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1915C>G (p.Leu639Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563708]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000552499]|not provided [RCV002509436] |
Chr5:256340 [GRCh38]
Chr5:256455 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.-4dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000564814] |
Chr5:218351..218352 [GRCh38]
Chr5:218466..218467 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1040T>C (p.Met347Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395442]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000546880] |
Chr5:233621 [GRCh38]
Chr5:233736 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.476C>T (p.Pro159Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475022]|Hereditary cancer-predisposing syndrome [RCV000219502]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649409] |
Chr5:225902 [GRCh38]
Chr5:226017 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799638]|Hereditary cancer-predisposing syndrome [RCV000221764]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000810033]|Paragangliomas 5 [RCV002254689]|not provided [RCV002307451] |
Chr5:235230 [GRCh38]
Chr5:235345 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000492773]|Hereditary pheochromocytoma-paraganglioma [RCV000325852]|Leigh syndrome [RCV000389777]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210491]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000270762]|Paragangliomas 5 [RCV003316164]|not provided [RCV001658006]|not specified [RCV000243534] |
Chr5:254484 [GRCh38]
Chr5:254599 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1911C>T (p.Val637=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564874]|Hereditary pheochromocytoma-paraganglioma [RCV000298002]|Leigh syndrome [RCV000343504]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210496]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000402055]|Paragangliomas 5 [RCV003316167]|SDHA-related condition [RCV003927893]|not provided [RCV001579978]|not specified [RCV000426571] |
Chr5:256336 [GRCh38]
Chr5:256451 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573807]|Hereditary pheochromocytoma-paraganglioma [RCV000282383]|Leigh syndrome [RCV000349064]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000374489]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001080211]|Paragangliomas 5 [RCV000411625]|not provided [RCV000224380]|not specified [RCV000216190] |
Chr5:218372 [GRCh38]
Chr5:218487 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572294]|Hereditary pheochromocytoma-paraganglioma [RCV000347454]|Hereditary renal cell carcinoma [RCV000678682]|Leigh syndrome [RCV000308179]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210508]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000401643]|Paragangliomas 5 [RCV000410936]|SDHA-related condition [RCV003927892]|not provided [RCV001355540]|not specified [RCV003330583] |
Chr5:223551 [GRCh38]
Chr5:223666 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.822C>T (p.Gly274=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570502]|Hereditary pheochromocytoma-paraganglioma [RCV000372488]|Leigh syndrome [RCV000287211]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210510]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000317795]|Paragangliomas 5 [RCV003316165]|not provided [RCV003736642]|not specified [RCV000426962] |
Chr5:230927 [GRCh38]
Chr5:231042 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1413C>T (p.Ile471=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562445]|Hereditary pheochromocytoma-paraganglioma [RCV001152356]|Leigh syndrome [RCV001152357]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210520]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001157834]|Paragangliomas 5 [RCV003316168]|SDHA-related condition [RCV003977580]|not provided [RCV001579483]|not specified [RCV000437200] |
Chr5:236580 [GRCh38]
Chr5:236695 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1368G>A (p.Ser456=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570838]|Hereditary pheochromocytoma-paraganglioma [RCV001157833]|Leigh syndrome [RCV001157831]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001080809]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001157832]|Paragangliomas 5 [RCV003316163]|not provided [RCV000210523]|not specified [RCV000247565] |
Chr5:236535 [GRCh38]
Chr5:236650 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569199]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210526]|Paragangliomas 5 [RCV000410409]|not provided [RCV001705183]|not specified [RCV000250106] |
Chr5:223554 [GRCh38]
Chr5:223669 [GRCh37]
Chr5:5p15.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1305G>T (p.Leu435=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565630]|Hereditary pheochromocytoma-paraganglioma [RCV000376037]|Leigh syndrome [RCV000291485]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210529]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000346462]|Paragangliomas 5 [RCV003316166]|not provided [RCV003114371]|not specified [RCV000242588] |
Chr5:236472 [GRCh38]
Chr5:236587 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.113A>T (p.Asp38Val) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV001262690]|Hereditary cancer-predisposing syndrome [RCV000567706]|Hereditary pheochromocytoma-paraganglioma [RCV000295347]|Leigh syndrome [RCV000352522]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000210535]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000387287]|Paragangliomas 5 [RCV003316169]|not provided [RCV000757746]|not specified [RCV000245657] |
Chr5:223531 [GRCh38]
Chr5:223646 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.407A>T (p.Gln136Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213542]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002519727] |
Chr5:225513 [GRCh38]
Chr5:225628 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217918]|Hereditary pheochromocytoma-paraganglioma [RCV000333745]|Leigh syndrome [RCV000388419]|Leigh syndrome [RCV000765836]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000275247]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649461]|not provided [RCV001775682]|not specified [RCV001818525] |
Chr5:256398 [GRCh38]
Chr5:256513 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1228A>G (p.Met410Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213886]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001312342] |
Chr5:235307 [GRCh38]
Chr5:235422 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 |
copy number gain |
not provided [RCV000234904] |
Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214185]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000459361]|not provided [RCV000514432] |
Chr5:235214 [GRCh38]
Chr5:235329 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.739A>G (p.Ile247Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214276]|Leigh syndrome [RCV000765826]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000230633]|Paragangliomas 5 [RCV000663181]|not provided [RCV003477750] |
Chr5:228302 [GRCh38]
Chr5:228417 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1533G>A (p.Leu511=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218407]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001411405] |
Chr5:240458 [GRCh38]
Chr5:240573 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.106A>G (p.Thr36Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475003]|Hereditary cancer-predisposing syndrome [RCV000218672]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000559108]|not provided [RCV002509312] |
Chr5:223524 [GRCh38]
Chr5:223639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221025]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000798190]|Paragangliomas 5 [RCV003316203] |
Chr5:226041 [GRCh38]
Chr5:226156 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.310_311dup (p.Gln104fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000216352]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002518274] |
Chr5:224516..224517 [GRCh38]
Chr5:224631..224632 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.935G>C (p.Arg312Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218749]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003765445] |
Chr5:233516 [GRCh38]
Chr5:233631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1794+3G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222853]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000230640]|SDHA-related condition [RCV003401134]|not provided [RCV001753651] |
Chr5:251471 [GRCh38]
Chr5:251586 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1663+1G>T |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475016]|Hereditary cancer-predisposing syndrome [RCV000218973]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000466792]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002500730]|not provided [RCV003229821] |
Chr5:251104 [GRCh38]
Chr5:251219 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.64-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216659]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000533456] |
Chr5:223479 [GRCh38]
Chr5:223594 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1794+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215067]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001071130] |
Chr5:251469 [GRCh38]
Chr5:251584 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216966]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001041220] |
Chr5:235278 [GRCh38]
Chr5:235393 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1653G>A (p.Thr551=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565314]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000229586] |
Chr5:251093 [GRCh38]
Chr5:251208 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.109G>A (p.Val37Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574162]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000229719]|Paragangliomas 5 [RCV000662820]|not provided [RCV003441813] |
Chr5:223527 [GRCh38]
Chr5:223642 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475067]|Hereditary cancer-predisposing syndrome [RCV001011310]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000227745] |
Chr5:236560 [GRCh38]
Chr5:236675 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.724G>A (p.Gly242Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475077]|Hereditary cancer-predisposing syndrome [RCV001026197]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000227862]|not provided [RCV003477823] |
Chr5:228287 [GRCh38]
Chr5:228402 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.534C>T (p.Leu178=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002347888]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000229841]|not provided [RCV003477822] |
Chr5:225960 [GRCh38]
Chr5:226075 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+6G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255137]|Inborn genetic diseases [RCV002518337]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000230222]|Paragangliomas 5 [RCV000662807]|SDHA-related condition [RCV003955334]|not provided [RCV000998344] |
Chr5:225568 [GRCh38]
Chr5:225683 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475076]|Hereditary cancer-predisposing syndrome [RCV000572868]|Hereditary pheochromocytoma-paraganglioma [RCV000345164]|Leigh syndrome [RCV000287726]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000228365]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000383376]|not provided [RCV003477820] |
Chr5:225548 [GRCh38]
Chr5:225663 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_004168.4(SDHA):c.1432_1432+1del |
deletion |
Dilated cardiomyopathy 1GG [RCV003475069]|Hereditary cancer-predisposing syndrome [RCV000567345]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000228421]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002500781]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV003492005]|Pheochromocytoma [RCV001253762]|not provided [RCV002508205] |
Chr5:236599..236600 [GRCh38]
Chr5:236714..236715 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1432+1G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000230417]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001329182] |
Chr5:236600 [GRCh38]
Chr5:236715 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1398A>G (p.Ala466=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392697]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001458162] |
Chr5:236565 [GRCh38]
Chr5:236680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475071]|Hereditary cancer-predisposing syndrome [RCV002399826]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000228640]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002487068]|not provided [RCV003477819]|not specified [RCV000502879] |
Chr5:240460 [GRCh38]
Chr5:240575 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.622-5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569503]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000229170] |
Chr5:228180 [GRCh38]
Chr5:228295 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1273G>A (p.Val425Met) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475066]|Hereditary cancer-predisposing syndrome [RCV000569607]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000231334]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002503907]|Paragangliomas 5 [RCV000663187]|not provided [RCV001753700] |
Chr5:236440 [GRCh38]
Chr5:236555 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000231483]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002259327] |
Chr5:240474 [GRCh38]
Chr5:240589 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000230255] |
Chr5:251424 [GRCh38]
Chr5:251539 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567727]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000230468]|Paragangliomas 5 [RCV000656497]|not provided [RCV000579224] |
Chr5:218356 [GRCh38]
Chr5:218471 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475073]|Hereditary cancer-predisposing syndrome [RCV000564512]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000232844]|not provided [RCV000419445] |
Chr5:251425 [GRCh38]
Chr5:251540 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025834]|Leigh syndrome [RCV000764603]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000231015]|not provided [RCV003329265] |
Chr5:228257 [GRCh38]
Chr5:228372 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1064+4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575680]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000225995]|not provided [RCV001722238] |
Chr5:233649 [GRCh38]
Chr5:233764 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565244]|Hereditary pheochromocytoma-paraganglioma [RCV001153644]|Leigh syndrome [RCV001153646]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000226282]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153645]|Paragangliomas 5 [RCV000663186]|SDHA-related condition [RCV003967638]|not provided [RCV002253311]|not specified [RCV002267990] |
Chr5:251101 [GRCh38]
Chr5:251216 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.453C>T (p.Val151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022667]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000226323]|not provided [RCV003477821]|not specified [RCV000603740] |
Chr5:225559 [GRCh38]
Chr5:225674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1299C>T (p.Pro433=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566607]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000233072]|SDHA-related condition [RCV003897544]|not provided [RCV003477818] |
Chr5:236466 [GRCh38]
Chr5:236581 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) |
single nucleotide variant |
B-lymphoblastic leukemia/lymphoma with hypodiploidy [RCV000761150]|Hereditary cancer-predisposing syndrome [RCV000569754]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000231817]|Paragangliomas 5 [RCV000663057]|not provided [RCV000786220] |
Chr5:224496 [GRCh38]
Chr5:224611 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.457-2_457del |
deletion |
Gastrointestinal stromal tumor [RCV001799643]|Hereditary cancer-predisposing syndrome [RCV002338730]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000231881] |
Chr5:225880..225882 [GRCh38]
Chr5:225995..225997 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.622-8T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000233358]|Paragangliomas 5 [RCV000411772]|not provided [RCV000427201] |
Chr5:228177 [GRCh38]
Chr5:228292 [GRCh37]
Chr5:5p15.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411041]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000233512]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002500782]|not provided [RCV002510828] |
Chr5:254396 [GRCh38]
Chr5:254511 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475065]|Hereditary cancer-predisposing syndrome [RCV000570013]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000233529] |
Chr5:235313 [GRCh38]
Chr5:235428 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.441C>T (p.Pro147=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564203]|Hereditary pheochromocytoma-paraganglioma [RCV000274933]|Leigh syndrome [RCV000332396]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000233726]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000389166] |
Chr5:225547 [GRCh38]
Chr5:225662 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567631]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000232152]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001329180]|Paragangliomas 5 [RCV003316268] |
Chr5:233635 [GRCh38]
Chr5:233750 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.451G>A (p.Val151Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338729]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000232272]|SDHA-related condition [RCV003417819] |
Chr5:225557 [GRCh38]
Chr5:225672 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.899T>C (p.Ile300Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018599]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000232508] |
Chr5:233480 [GRCh38]
Chr5:233595 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.513T>C (p.Arg171=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023603]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000226781]|Paragangliomas 5 [RCV000412315]|not specified [RCV000441092] |
Chr5:225939 [GRCh38]
Chr5:226054 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.63+8C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000227123]|not provided [RCV003437021] |
Chr5:218426 [GRCh38]
Chr5:218541 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.698G>T (p.Gly233Val) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799644]|Hereditary cancer-predisposing syndrome [RCV002372275]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000233811]|not provided [RCV003480563] |
Chr5:228261 [GRCh38]
Chr5:228376 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.914G>T (p.Cys305Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000234148] |
Chr5:233495 [GRCh38]
Chr5:233610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1182C>T (p.Asp394=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338728]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000232577]|Paragangliomas 5 [RCV003316269] |
Chr5:235261 [GRCh38]
Chr5:235376 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.596C>T (p.Ser199Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002354654]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000232616] |
Chr5:226022 [GRCh38]
Chr5:226137 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.621+8C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000227518] |
Chr5:226055 [GRCh38]
Chr5:226170 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|likely benign |
| NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563763]|Hereditary pheochromocytoma-paraganglioma [RCV001158019]|Leigh syndrome [RCV001158017]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000227636]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001158018]|Paragangliomas 5 [RCV000409751]|SDHA-related condition [RCV003401176]|not provided [RCV000998351] |
Chr5:256404 [GRCh38]
Chr5:256519 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475074]|Gastrointestinal stromal tumor [RCV001799642]|Hereditary cancer-predisposing syndrome [RCV001013022]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000227812]|Paragangliomas 5 [RCV000410930] |
Chr5:251428 [GRCh38]
Chr5:251543 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475070]|Hereditary cancer-predisposing syndrome [RCV000571145]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000225792]|SDHA-related condition [RCV003417817]|not provided [RCV000484270] |
Chr5:240457 [GRCh38]
Chr5:240572 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475078]|Hereditary cancer-predisposing syndrome [RCV000571153]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000225880]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002478861]|Paragangliomas 5 [RCV000410721]|SDHA-related condition [RCV003929963]|not provided [RCV001589187] |
Chr5:223510 [GRCh38]
Chr5:223625 [GRCh37]
Chr5:5p15.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475072]|Hereditary cancer-predisposing syndrome [RCV001012585]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000233573]|not provided [RCV001762530] |
Chr5:251097 [GRCh38]
Chr5:251212 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.3(SDHA):c.-115-?_*280+?dup2390 |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000228185] |
|
uncertain significance |
| NM_004168.4(SDHA):c.219C>G (p.Gly73=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014761]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000228306] |
Chr5:224428 [GRCh38]
Chr5:224543 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010179]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000226409]|Paragangliomas 5 [RCV000663203] |
Chr5:235275 [GRCh38]
Chr5:235390 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+7G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000234401]|Paragangliomas 5 [RCV000662744]|not provided [RCV001800594] |
Chr5:236606 [GRCh38]
Chr5:236721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.205G>A (p.Ala69Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418011]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000234463]|SDHA-related condition [RCV003417818]|not provided [RCV003137848]|not specified [RCV003987466] |
Chr5:224414 [GRCh38]
Chr5:224529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.777C>T (p.Tyr259=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567901]|Hereditary pheochromocytoma-paraganglioma [RCV001153421]|Leigh syndrome [RCV001153420]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000234552]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153422]|SDHA-related condition [RCV003955335]|not provided [RCV003430784] |
Chr5:230882 [GRCh38]
Chr5:230997 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475068]|Hereditary cancer-predisposing syndrome [RCV002392698]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000234575]|Paragangliomas 5 [RCV000663132] |
Chr5:236590 [GRCh38]
Chr5:236705 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.423C>T (p.Tyr141=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567577]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000234606] |
Chr5:225529 [GRCh38]
Chr5:225644 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.23C>G (p.Ser8Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475075]|Hereditary cancer-predisposing syndrome [RCV002444900]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000228753]|not provided [RCV001762532] |
Chr5:218378 [GRCh38]
Chr5:218493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.919A>G (p.Ile307Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018991]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000229059]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002503908] |
Chr5:233500 [GRCh38]
Chr5:233615 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1215C>T (p.Thr405=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010329]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000229253]|SDHA-related condition [RCV003947773] |
Chr5:235294 [GRCh38]
Chr5:235409 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1242C>T (p.Pro414=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010504]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000227375]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000987495]|not provided [RCV003437020] |
Chr5:235321 [GRCh38]
Chr5:235436 [GRCh37]
Chr5:5p15.33 |
likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 |
copy number gain |
See cases [RCV000240016] |
Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| NM_004168.4(SDHA):c.352A>C (p.Asn118His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562687] |
Chr5:225458 [GRCh38]
Chr5:225573 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1974G>A (p.Pro658=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565278]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001080610]|not provided [RCV000827097] |
Chr5:256399 [GRCh38]
Chr5:256514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575726]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000535887] |
Chr5:236513 [GRCh38]
Chr5:236628 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1894G>T (p.Val632Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575685]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000539102]|not provided [RCV003313101] |
Chr5:254492 [GRCh38]
Chr5:254607 [GRCh37]
Chr5:5p15.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1378C>T (p.Leu460=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573583]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000541221]|SDHA-related condition [RCV003962566]|not provided [RCV002476187] |
Chr5:236545 [GRCh38]
Chr5:236660 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564552]|Leigh syndrome [RCV000765831]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000549735]|not provided [RCV002263789] |
Chr5:233575 [GRCh38]
Chr5:233690 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574591]|Leigh syndrome [RCV000765835]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239361]|Paragangliomas 5 [RCV000663177]|not provided [RCV000836807] |
Chr5:256344 [GRCh38]
Chr5:256459 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1623G>A (p.Lys541=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569690]|Hereditary pheochromocytoma-paraganglioma [RCV001153641]|Leigh syndrome [RCV001153642]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001081440]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153643]|Paragangliomas 5 [RCV003316319]|not provided [RCV000239362]|not specified [RCV000242066] |
Chr5:251063 [GRCh38]
Chr5:251178 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.918C>G (p.Leu306=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568221]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239363]|SDHA-related condition [RCV003967682]|not specified [RCV002479953] |
Chr5:233499 [GRCh38]
Chr5:233614 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1002G>A (p.Ala334=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570639]|Hereditary pheochromocytoma-paraganglioma [RCV001152243]|Leigh syndrome [RCV001152241]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239366]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001152242]|Paragangliomas 5 [RCV003316318]|SDHA-related condition [RCV003939915]|not provided [RCV001705321]|not specified [RCV001820792] |
Chr5:233583 [GRCh38]
Chr5:233698 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.549C>T (p.Gly183=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571465]|Hereditary pheochromocytoma-paraganglioma [RCV000339713]|Leigh syndrome [RCV000291747]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239367]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000394814]|Paragangliomas 5 [RCV003316320]|not provided [RCV001800618]|not specified [RCV000418051] |
Chr5:225975 [GRCh38]
Chr5:226090 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) |
single nucleotide variant |
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003313064]|Dilated cardiomyopathy 1GG [RCV003475849]|Hereditary cancer-predisposing syndrome [RCV000565564]|Leigh syndrome [RCV000764599]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239368]|not provided [RCV003137852]|not specified [RCV001820793] |
Chr5:224364 [GRCh38]
Chr5:224479 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567963]|Leigh syndrome [RCV000765830]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239369]|not provided [RCV002291613] |
Chr5:233572 [GRCh38]
Chr5:233687 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1974G>C (p.Pro658=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568815]|Hereditary pheochromocytoma-paraganglioma [RCV001156340]|Leigh syndrome [RCV001156342]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239372]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001156341]|not provided [RCV001722281]|not specified [RCV000427231] |
Chr5:256399 [GRCh38]
Chr5:256514 [GRCh37]
Chr5:5p15.33 |
pathogenic|benign|likely benign |
| NM_004168.4(SDHA):c.600A>G (p.Leu200=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572465]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000239373]|SDHA-related condition [RCV003939916]|not specified [RCV002479952] |
Chr5:226026 [GRCh38]
Chr5:226141 [GRCh37]
Chr5:5p15.33 |
pathogenic|benign|likely benign |
| NM_004168.4(SDHA):c.57C>G (p.Ala19=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024546]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001084132]|not provided [RCV000842001] |
Chr5:218412 [GRCh38]
Chr5:218527 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely benign |
| NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476313]|Hereditary cancer-predisposing syndrome [RCV001022683]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000526392]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002509437]|not provided [RCV003231529] |
Chr5:225560 [GRCh38]
Chr5:225675 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1552-15T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002066523]|not specified [RCV000601012] |
Chr5:250977 [GRCh38]
Chr5:251092 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.3(SDHA):c.-115-?_1432+?dup1547 |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000240136] |
|
uncertain significance |
| NM_004168.4(SDHA):c.-1C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013984]|Hereditary pheochromocytoma-paraganglioma [RCV000380480]|Leigh syndrome [RCV000279041]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000317717]|not provided [RCV003137969] |
Chr5:218355 [GRCh38]
Chr5:218470 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.*133G>C |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV000334630]|Leigh syndrome [RCV000285270]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000379866] |
Chr5:256553 [GRCh38]
Chr5:256668 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000547611] |
Chr5:235209 [GRCh38]
Chr5:235324 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572973]|Hereditary pheochromocytoma-paraganglioma [RCV000358590]|Leigh syndrome [RCV000266213]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000323529]|not specified [RCV000251091] |
Chr5:218352 [GRCh38]
Chr5:218467 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475856]|Gastrointestinal stromal tumor [RCV001799648]|Hereditary cancer-predisposing syndrome [RCV000568295]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001245529]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003447520]|SDHA-related condition [RCV003891922]|not provided [RCV001528683] |
Chr5:254397 [GRCh38]
Chr5:254512 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.456+20G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002338802]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001516477]|Paragangliomas 5 [RCV003316405]|not provided [RCV001528624]|not specified [RCV000253864] |
Chr5:225582 [GRCh38]
Chr5:225697 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.829A>G (p.Thr277Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566367]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001859970] |
Chr5:230934 [GRCh38]
Chr5:231049 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+15C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411119]|Hereditary pheochromocytoma-paraganglioma [RCV000349503]|Leigh syndrome [RCV000385355]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000294605]|Paragangliomas 5 [RCV003316404]|not provided [RCV001812726]|not specified [RCV000249299] |
Chr5:254521 [GRCh38]
Chr5:254636 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.896-20A>G |
single nucleotide variant |
Paragangliomas 5 [RCV003316407]|not provided [RCV001711814]|not specified [RCV000242256] |
Chr5:233457 [GRCh38]
Chr5:233572 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.464A>G (p.Asn155Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476314]|Hereditary cancer-predisposing syndrome [RCV001022840]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000530738]|not provided [RCV002293455] |
Chr5:225890 [GRCh38]
Chr5:226005 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.723C>T (p.Asp241=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562470]|Hereditary pheochromocytoma-paraganglioma [RCV000275715]|Leigh syndrome [RCV000381733]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000334152]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000457962]|not provided [RCV001529253]|not specified [RCV001821078] |
Chr5:228286 [GRCh38]
Chr5:228401 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.771-11A>G |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV001544159]|Hereditary cancer-predisposing syndrome [RCV000492269]|Hereditary pheochromocytoma-paraganglioma [RCV000330761]|Leigh syndrome [RCV000281527]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000375985]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001544160]|Paragangliomas 5 [RCV003316406]|not provided [RCV001594904]|not specified [RCV000245369] |
Chr5:230865 [GRCh38]
Chr5:230980 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1037C>T (p.Ser346Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565739] |
Chr5:233618 [GRCh38]
Chr5:233733 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 |
copy number loss |
See cases [RCV000240389] |
Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_004168.4(SDHA):c.622-13del |
deletion |
not provided [RCV001675727]|not specified [RCV000250828] |
Chr5:228164 [GRCh38]
Chr5:228279 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.954C>T (p.Leu318=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566045]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000869875]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002497217] |
Chr5:233535 [GRCh38]
Chr5:233650 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.163T>C (p.Tyr55His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570704]|Hereditary pheochromocytoma-paraganglioma [RCV000303103]|Leigh syndrome [RCV000360177]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000399750]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000464569]|Paragangliomas 5 [RCV003316500]|not provided [RCV003333981]|not specified [RCV000606498] |
Chr5:224372 [GRCh38]
Chr5:224487 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1580G>A (p.Arg527His) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475935]|Hereditary cancer-predisposing syndrome [RCV001012256]|Hereditary pheochromocytoma-paraganglioma [RCV000352061]|Leigh syndrome [RCV000396802]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000287976]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000461471] |
Chr5:251020 [GRCh38]
Chr5:251135 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_004168.3(SDHA):c.-84dup |
duplication |
Leigh syndrome [RCV000307350]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000399941]|Pheochromocytoma [RCV000370159] |
Chr5:218266..218267 [GRCh38]
Chr5:218381..218382 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.*189C>T |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV000396725]|Leigh syndrome [RCV000340216]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000309761] |
Chr5:256609 [GRCh38]
Chr5:256724 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.3(SDHA):c.-115T>C |
single nucleotide variant |
Leigh syndrome [RCV000338764]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000313041]|Pheochromocytoma [RCV000400671] |
Chr5:218241 [GRCh38]
Chr5:218356 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.206C>T (p.Ala69Val) |
single nucleotide variant |
not provided [RCV000336498] |
Chr5:224415 [GRCh38]
Chr5:224530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-12_1909-11del |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000492532]|Leigh syndrome [RCV000337728]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000281629]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002061279]|Pheochromocytoma [RCV000394391]|SDHA-related condition [RCV003972483]|not provided [RCV001354980]|not specified [RCV000483037] |
Chr5:256320..256321 [GRCh38]
Chr5:256435..256436 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1092C>T (p.Val364=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002446606]|Hereditary pheochromocytoma-paraganglioma [RCV000355512]|Leigh syndrome [RCV000316002]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000260734] |
Chr5:235171 [GRCh38]
Chr5:235286 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.3(SDHA):c.-63G>A |
single nucleotide variant |
Leigh syndrome [RCV000329506]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000272151]|Pheochromocytoma [RCV000364389] |
Chr5:218293 [GRCh38]
Chr5:218408 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003298335]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003765582]|Paragangliomas 5 [RCV003325197]|not provided [RCV000318650] |
Chr5:233571 [GRCh38]
Chr5:233686 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.269T>C (p.Val90Ala) |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV000354574]|Leigh syndrome [RCV000267910]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000297336]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003766033] |
Chr5:224478 [GRCh38]
Chr5:224593 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.*75A>G |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV000279520]|Leigh syndrome [RCV000375689]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000330444] |
Chr5:256495 [GRCh38]
Chr5:256610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1422A>G (p.Ser474=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000553507] |
Chr5:236589 [GRCh38]
Chr5:236704 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1896T>C (p.Val632=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409556]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002104278]|not provided [RCV002480982] |
Chr5:254494 [GRCh38]
Chr5:254609 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) |
copy number loss |
5p partial monosomy syndrome [RCV002280774] |
Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_004168.4(SDHA):c.844A>G (p.Arg282Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000553235] |
Chr5:230949 [GRCh38]
Chr5:231064 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1017T>C (p.Ser339=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568481]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001401268] |
Chr5:233598 [GRCh38]
Chr5:233713 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter) |
single nucleotide variant |
Paragangliomas 5 [RCV003316921] |
Chr5:230882 [GRCh38]
Chr5:230997 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.218G>T (p.Gly73Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565207]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001222332] |
Chr5:224427 [GRCh38]
Chr5:224542 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570222]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000558917] |
Chr5:224493 [GRCh38]
Chr5:224608 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1772C>T (p.Ala591Val) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476309]|Hereditary cancer-predisposing syndrome [RCV001013062]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000555083]|See cases [RCV002252166] |
Chr5:251446 [GRCh38]
Chr5:251561 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565006]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000692849] |
Chr5:256332 [GRCh38]
Chr5:256447 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1863C>G (p.His621Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476310]|Hereditary cancer-predisposing syndrome [RCV002413607]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000548911] |
Chr5:254461 [GRCh38]
Chr5:254576 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1del (p.Met1fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001046092]|not provided [RCV000490141] |
Chr5:218356 [GRCh38]
Chr5:218471 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.823G>A (p.Asp275Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413611]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000527085]|not provided [RCV003478181] |
Chr5:230928 [GRCh38]
Chr5:231043 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1353C>G (p.Arg451=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566165]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649481] |
Chr5:236520 [GRCh38]
Chr5:236635 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1955C>T (p.Ala652Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566977]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000688050] |
Chr5:256380 [GRCh38]
Chr5:256495 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1696C>G (p.Leu566Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413604]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000552092] |
Chr5:251370 [GRCh38]
Chr5:251485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017082]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000530018] |
Chr5:233615 [GRCh38]
Chr5:233730 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.447C>T (p.Ala149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567589]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649485] |
Chr5:225553 [GRCh38]
Chr5:225668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-10T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001064929] |
Chr5:250982 [GRCh38]
Chr5:251097 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1450A>G (p.Ile484Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395444]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000554522] |
Chr5:240375 [GRCh38]
Chr5:240490 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1177G>T (p.Val393Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258966]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000548710]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001329181]|not provided [RCV003139851] |
Chr5:235256 [GRCh38]
Chr5:235371 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.969C>A (p.Gly323=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377149]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000548814] |
Chr5:233550 [GRCh38]
Chr5:233665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1155G>A (p.Glu385=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565438]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000867238] |
Chr5:235234 [GRCh38]
Chr5:235349 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1645C>G (p.Leu549Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565480]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003767229] |
Chr5:251085 [GRCh38]
Chr5:251200 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012127]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649455] |
Chr5:250989 [GRCh38]
Chr5:251104 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+6T>C |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476312]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000527847] |
Chr5:254512 [GRCh38]
Chr5:254627 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.831G>A (p.Thr277=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431684]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000528017] |
Chr5:230936 [GRCh38]
Chr5:231051 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150C>T (p.Ser50=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011952]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000531485]|SDHA-related condition [RCV003952829]|not provided [RCV003431099] |
Chr5:223568 [GRCh38]
Chr5:223683 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799673]|Hereditary cancer-predisposing syndrome [RCV002384004]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001063769]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003152716]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001363197]|not provided [RCV000521022] |
Chr5:236518 [GRCh38]
Chr5:236633 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.255del (p.Phe85fs) |
deletion |
not provided [RCV000627514] |
Chr5:224462 [GRCh38]
Chr5:224577 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.852C>G (p.Gly284=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003343916]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000529223] |
Chr5:230957 [GRCh38]
Chr5:231072 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1935C>T (p.Ile645=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013766]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000532848] |
Chr5:256360 [GRCh38]
Chr5:256475 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.888C>T (p.His296=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001475500] |
Chr5:230993 [GRCh38]
Chr5:231108 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1206C>T (p.Val402=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350353]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000555221] |
Chr5:235285 [GRCh38]
Chr5:235400 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.713G>T (p.Cys238Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000534290] |
Chr5:228276 [GRCh38]
Chr5:228391 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.753C>G (p.Asn251Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026538]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000559467] |
Chr5:228316 [GRCh38]
Chr5:228431 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256224]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003766137]|Paragangliomas 5 [RCV000409884] |
Chr5:236527 [GRCh38]
Chr5:236642 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) |
indel |
Hereditary cancer-predisposing syndrome [RCV002379266]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649427]|Paragangliomas 5 [RCV000410220] |
Chr5:233577..233579 [GRCh38]
Chr5:233692..233694 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+6A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000557246] |
Chr5:240482 [GRCh38]
Chr5:240597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.9G>T (p.Gly3=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570635]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000873441] |
Chr5:218364 [GRCh38]
Chr5:218479 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000570645]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001858148] |
Chr5:236474..236475 [GRCh38]
Chr5:236589..236590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.990C>T (p.Tyr330=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384225]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000537496] |
Chr5:233571 [GRCh38]
Chr5:233686 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1758G>T (p.Lys586Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574840] |
Chr5:251432 [GRCh38]
Chr5:251547 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1090G>C (p.Val364Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000535289] |
Chr5:235169 [GRCh38]
Chr5:235284 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1740C>T (p.Tyr580=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574909]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649487] |
Chr5:251414 [GRCh38]
Chr5:251529 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568179]|Paragangliomas 5 [RCV000409434]|not provided [RCV003328582] |
Chr5:218351 [GRCh38]
Chr5:218466 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+16A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002058840]|Paragangliomas 5 [RCV000409517] |
Chr5:236615 [GRCh38]
Chr5:236730 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569994]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000806481]|Paragangliomas 5 [RCV000409873] |
Chr5:236581 [GRCh38]
Chr5:236696 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1664-24del |
deletion |
Paragangliomas 5 [RCV000409940] |
Chr5:251314 [GRCh38]
Chr5:251429 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418229]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001041479]|Paragangliomas 5 [RCV000410820]|not provided [RCV003237835] |
Chr5:218356 [GRCh38]
Chr5:218471 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475994]|Hereditary cancer-predisposing syndrome [RCV000566844]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000684799]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002502437]|Opsoclonus-myoclonus syndrome [RCV002285327]|Paragangliomas 5 [RCV000411416]|not provided [RCV000578965] |
Chr5:240459 [GRCh38]
Chr5:240574 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475997]|Hereditary cancer-predisposing syndrome [RCV000563279]|Hereditary pheochromocytoma-paraganglioma [RCV001153526]|Leigh syndrome [RCV000765832]|Leigh syndrome [RCV001153527]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463749]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153528]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003483608]|Paragangliomas 5 [RCV000411606]|not provided [RCV000498298] |
Chr5:233636 [GRCh38]
Chr5:233751 [GRCh37]
Chr5:5p15.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004168.4(SDHA):c.313-19G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003168597]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002058842]|Paragangliomas 5 [RCV000411801]|not provided [RCV001528662]|not specified [RCV000443248] |
Chr5:225400 [GRCh38]
Chr5:225515 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1064+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561515]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000466048]|Paragangliomas 5 [RCV000411854]|not provided [RCV001584106] |
Chr5:233650 [GRCh38]
Chr5:233765 [GRCh37]
Chr5:5p15.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.-7A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255377]|Hereditary pheochromocytoma-paraganglioma [RCV001151932]|Leigh syndrome [RCV001151933]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649475]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001151931]|Paragangliomas 5 [RCV000411889]|not provided [RCV000756629]|not specified [RCV000425129] |
Chr5:218349 [GRCh38]
Chr5:218464 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.770+12A>G |
single nucleotide variant |
Paragangliomas 5 [RCV000412179]|not specified [RCV000601664] |
Chr5:228345 [GRCh38]
Chr5:228460 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.770+19_770+23del |
deletion |
Paragangliomas 5 [RCV000411656] |
Chr5:228350..228354 [GRCh38]
Chr5:228465..228469 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1968C>T (p.Thr656=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256389]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000557985]|not provided [RCV003431100] |
Chr5:256393 [GRCh38]
Chr5:256508 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1715T>G (p.Met572Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000540559] |
Chr5:251389 [GRCh38]
Chr5:251504 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.858T>A (p.Pro286=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574929]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000871585] |
Chr5:230963 [GRCh38]
Chr5:231078 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570997]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001221392]|not provided [RCV000658024] |
Chr5:235275 [GRCh38]
Chr5:235390 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395443]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000541924]|not provided [RCV003319375] |
Chr5:236595 [GRCh38]
Chr5:236710 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+10G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000541963]|not specified [RCV002476188] |
Chr5:225572 [GRCh38]
Chr5:225687 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000536076] |
Chr5:235250 [GRCh38]
Chr5:235365 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.477G>A (p.Pro159=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341428]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000538620]|SDHA-related condition [RCV003900218] |
Chr5:225903 [GRCh38]
Chr5:226018 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350351]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000533503] |
Chr5:233581 [GRCh38]
Chr5:233696 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1857G>A (p.Glu619=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413606]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000536406]|SDHA-related condition [RCV003952830] |
Chr5:254455 [GRCh38]
Chr5:254570 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395448]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000538676] |
Chr5:251056 [GRCh38]
Chr5:251171 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1323C>T (p.Ala441=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574438]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000878525]|Paragangliomas 5 [RCV003316747]|SDHA-related condition [RCV003980059] |
Chr5:236490 [GRCh38]
Chr5:236605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1026G>A (p.Val342=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384219]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000553862] |
Chr5:233607 [GRCh38]
Chr5:233722 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 |
copy number loss |
See cases [RCV000449097] |
Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_004168.4(SDHA):c.894A>G (p.Thr298=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377146]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000531297] |
Chr5:230999 [GRCh38]
Chr5:231114 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 |
copy number gain |
See cases [RCV000446077] |
Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 |
copy number loss |
See cases [RCV000447672] |
Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 |
copy number loss |
See cases [RCV000447679] |
Chr5:22149..6112711 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 |
copy number loss |
See cases [RCV000446974] |
Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 |
copy number loss |
See cases [RCV000447483] |
Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 |
copy number loss |
See cases [RCV000446677] |
Chr5:22149..4641409 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 |
copy number loss |
See cases [RCV000446645] |
Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 |
copy number loss |
See cases [RCV000446523] |
Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 |
copy number loss |
See cases [RCV000446054] |
Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 |
copy number gain |
See cases [RCV000447632] |
Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:151638-235584)x3 |
copy number gain |
See cases [RCV000446764] |
Chr5:151638..235584 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 |
copy number loss |
See cases [RCV000446665] |
Chr5:22149..2965987 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 |
copy number loss |
See cases [RCV000447462] |
Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_004168.4(SDHA):c.1664-13T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002525496]|not specified [RCV000423740] |
Chr5:251325 [GRCh38]
Chr5:251440 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1569T>C (p.Ala523=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566664]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000458596]|SDHA-related condition [RCV003959952]|not provided [RCV003883498]|not specified [RCV000445091] |
Chr5:251009 [GRCh38]
Chr5:251124 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.833C>T (p.Ala278Val) |
single nucleotide variant |
not provided [RCV000417920] |
Chr5:230938 [GRCh38]
Chr5:231053 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013331]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000696172]|SDHA-related condition [RCV003409604]|not provided [RCV000424508] |
Chr5:254433 [GRCh38]
Chr5:254548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.150+1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476016]|Hereditary cancer-predisposing syndrome [RCV000568947]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000471142]|not provided [RCV000438780] |
Chr5:223569 [GRCh38]
Chr5:223684 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1551+16C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001511158]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002502505]|not provided [RCV001528986]|not specified [RCV000435576] |
Chr5:240492 [GRCh38]
Chr5:240607 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1403C>A (p.Ala468Asp) |
single nucleotide variant |
not provided [RCV000432662] |
Chr5:236570 [GRCh38]
Chr5:236685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1773G>A (p.Ala591=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013065]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000530893]|not provided [RCV003478180] |
Chr5:251447 [GRCh38]
Chr5:251562 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+9C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000458063]|Paragangliomas 5 [RCV000662487]|not specified [RCV000436401] |
Chr5:225571 [GRCh38]
Chr5:225686 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.*15G>A |
single nucleotide variant |
not specified [RCV000437154] |
Chr5:256435 [GRCh38]
Chr5:256550 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.895+13G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256236]|Hereditary pheochromocytoma-paraganglioma [RCV001157731]|Leigh syndrome [RCV001157730]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001157732]|Paragangliomas 5 [RCV000662985]|not specified [RCV000440704] |
Chr5:231013 [GRCh38]
Chr5:231128 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1356C>T (p.Leu452=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567112]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000464405]|not provided [RCV003477925]|not specified [RCV000420514] |
Chr5:236523 [GRCh38]
Chr5:236638 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1089C>T (p.His363=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009877]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473235]|not specified [RCV000423532] |
Chr5:235168 [GRCh38]
Chr5:235283 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 |
copy number loss |
See cases [RCV000448019] |
Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 |
copy number loss |
See cases [RCV000448521] |
Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 |
copy number loss |
See cases [RCV000448543] |
Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 |
copy number loss |
See cases [RCV000447780] |
Chr5:22149..4163847 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 |
copy number loss |
See cases [RCV000448408] |
Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 |
copy number loss |
See cases [RCV000447737] |
Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 |
copy number gain |
See cases [RCV000447969] |
Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_004168.4(SDHA):c.45C>T (p.Arg15=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341121]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001478123] |
Chr5:218400 [GRCh38]
Chr5:218515 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.319A>G (p.Ile107Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566699]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000462764] |
Chr5:225425 [GRCh38]
Chr5:225540 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476127]|Hereditary cancer-predisposing syndrome [RCV000565889]|Leigh syndrome [RCV000765829]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000462816]|not provided [RCV002272249]|not specified [RCV001821296] |
Chr5:233536 [GRCh38]
Chr5:233651 [GRCh37]
Chr5:5p15.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1257G>A (p.Gly419=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010368]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000474023] |
Chr5:235336 [GRCh38]
Chr5:235451 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001851236]|not provided [RCV000483463] |
Chr5:236509 [GRCh38]
Chr5:236624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 |
copy number loss |
See cases [RCV000512066] |
Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418426]|Leigh syndrome [RCV000765827]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463083]|not provided [RCV001775822] |
Chr5:230917 [GRCh38]
Chr5:231032 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1332C>G (p.Ala444=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011097]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000466826]|SDHA-related condition [RCV003960119] |
Chr5:236499 [GRCh38]
Chr5:236614 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.757G>A (p.Val253Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000470372] |
Chr5:228320 [GRCh38]
Chr5:228435 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.621+9G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000470380] |
Chr5:226056 [GRCh38]
Chr5:226171 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.44G>C (p.Arg15Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255398]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000470530] |
Chr5:218399 [GRCh38]
Chr5:218514 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1197G>A (p.Pro399=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341120]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000474220] |
Chr5:235276 [GRCh38]
Chr5:235391 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+8T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000460313] |
Chr5:251476 [GRCh38]
Chr5:251591 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476124]|Hereditary cancer-predisposing syndrome [RCV001026811]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000460623]|not provided [RCV001775823] |
Chr5:230883 [GRCh38]
Chr5:230998 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.749A>G (p.Lys250Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393167]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463173]|not provided [RCV003324754] |
Chr5:228312 [GRCh38]
Chr5:228427 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.873G>A (p.Glu291=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018260]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463231] |
Chr5:230978 [GRCh38]
Chr5:231093 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000463371] |
Chr5:236444 [GRCh38]
Chr5:236559 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.496G>A (p.Gly166Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000470736] |
Chr5:225922 [GRCh38]
Chr5:226037 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1827C>A (p.Pro609=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255414]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000474438] |
Chr5:254425 [GRCh38]
Chr5:254540 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411519]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000465027] |
Chr5:254498 [GRCh38]
Chr5:254613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1419G>A (p.Glu473=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575876]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000465651] |
Chr5:236586 [GRCh38]
Chr5:236701 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349988]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000468036] |
Chr5:225477 [GRCh38]
Chr5:225592 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.24G>C (p.Ser8=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573332]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001429572] |
Chr5:218379 [GRCh38]
Chr5:218494 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003168871]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000459590]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002475894] |
Chr5:256353 [GRCh38]
Chr5:256468 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1629T>C (p.Tyr543=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569829]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000459700]|SDHA-related condition [RCV003902718] |
Chr5:251069 [GRCh38]
Chr5:251184 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1773G>C (p.Ala591=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402371]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463453] |
Chr5:251447 [GRCh38]
Chr5:251562 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.666G>T (p.Leu222Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000463550]|not provided [RCV002293444] |
Chr5:228229 [GRCh38]
Chr5:228344 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1644C>T (p.His548=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395139]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463554] |
Chr5:251084 [GRCh38]
Chr5:251199 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.169G>T (p.Val57Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012788]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000467197]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002481483] |
Chr5:224378 [GRCh38]
Chr5:224493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476125]|Hereditary cancer-predisposing syndrome [RCV002341056]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000467274]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000853253]|Paragangliomas 5 [RCV000662662] |
Chr5:225906 [GRCh38]
Chr5:226021 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1797G>A (p.Val599=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001506605] |
Chr5:254395 [GRCh38]
Chr5:254510 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1064+10A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000470996] |
Chr5:233655 [GRCh38]
Chr5:233770 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+10C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000456309] |
Chr5:251478 [GRCh38]
Chr5:251593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.313-5T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000459906] |
Chr5:225414 [GRCh38]
Chr5:225529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1971C>T (p.Val657=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573225]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463658]|not specified [RCV000615882] |
Chr5:256396 [GRCh38]
Chr5:256511 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476121]|Gastrointestinal stromal tumor [RCV001799664]|Hereditary cancer-predisposing syndrome [RCV002402299]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000467377] |
Chr5:251440 [GRCh38]
Chr5:251555 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.428C>T (p.Thr143Met) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476129]|Hereditary cancer-predisposing syndrome [RCV001022221]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000471253]|not specified [RCV001821297] |
Chr5:225534 [GRCh38]
Chr5:225649 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.733C>G (p.His245Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000456392] |
Chr5:228296 [GRCh38]
Chr5:228411 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429555]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000456569] |
Chr5:235343 [GRCh38]
Chr5:235458 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570413]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000460218] |
Chr5:256367 [GRCh38]
Chr5:256482 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1090G>A (p.Val364Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561241]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000463908] |
Chr5:235169 [GRCh38]
Chr5:235284 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565700]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000471485] |
Chr5:233650 [GRCh38]
Chr5:233765 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393170]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000475110]|not provided [RCV003477997] |
Chr5:240447 [GRCh38]
Chr5:240562 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1026G>T (p.Val342=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383906]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000475138] |
Chr5:233607 [GRCh38]
Chr5:233722 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.453C>A (p.Val151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022664]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000475275]|Paragangliomas 5 [RCV003230266] |
Chr5:225559 [GRCh38]
Chr5:225674 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1014G>A (p.Ala338=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563364]|Hereditary pheochromocytoma-paraganglioma [RCV001152244]|Leigh syndrome [RCV001152246]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000456689]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001152245]|SDHA-related condition [RCV003900007]|not provided [RCV001310840] |
Chr5:233595 [GRCh38]
Chr5:233710 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1344T>C (p.Gly448=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571567]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000467921] |
Chr5:236511 [GRCh38]
Chr5:236626 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.613T>C (p.Tyr205His) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476119]|Hereditary cancer-predisposing syndrome [RCV000575607]|Leigh syndrome [RCV000764602]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000471598]|not provided [RCV001848822] |
Chr5:226039 [GRCh38]
Chr5:226154 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.598C>T (p.Leu200=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568755]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000475350] |
Chr5:226024 [GRCh38]
Chr5:226139 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1930G>A (p.Val644Met) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476126]|Hereditary cancer-predisposing syndrome [RCV002411517]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000475448]|Paragangliomas 5 [RCV000662992]|SDHA-related condition [RCV003401494]|not provided [RCV002251478] |
Chr5:256355 [GRCh38]
Chr5:256470 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) |
indel |
Dilated cardiomyopathy 1GG [RCV003476157]|Hereditary cancer-predisposing syndrome [RCV000575106]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000800769]|SDHA-related condition [RCV003401517]|not provided [RCV000483714] |
Chr5:240451..240452 [GRCh38]
Chr5:240566..240567 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.762_770+17del |
deletion |
Dilated cardiomyopathy 1GG [RCV003476122]|Hereditary cancer-predisposing syndrome [RCV002393168]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000456955]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002506134]|Paragangliomas 5 [RCV003316574] |
Chr5:228324..228349 [GRCh38]
Chr5:228439..228464 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.419A>G (p.His140Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000457011] |
Chr5:225525 [GRCh38]
Chr5:225640 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.372C>T (p.Tyr124=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020988]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000460760]|not provided [RCV003431041] |
Chr5:225478 [GRCh38]
Chr5:225593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575963]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000468097]|Paragangliomas 5 [RCV000662791]|not provided [RCV003313078] |
Chr5:233495 [GRCh38]
Chr5:233610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+9G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000468116] |
Chr5:235348 [GRCh38]
Chr5:235463 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011494]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000468284]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002481479]|not provided [RCV003237875] |
Chr5:236596 [GRCh38]
Chr5:236711 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1737C>T (p.Ile579=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012952]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001082233]|Paragangliomas 5 [RCV003316633]|SDHA-related condition [RCV003942581]|not provided [RCV000475760] |
Chr5:251411 [GRCh38]
Chr5:251526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476132]|Hereditary cancer-predisposing syndrome [RCV000572994]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000467983]|Paragangliomas 5 [RCV000663257]|not provided [RCV000487393]|not specified [RCV002268094] |
Chr5:251398 [GRCh38]
Chr5:251513 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476130]|Hereditary cancer-predisposing syndrome [RCV001013059]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000460826]|not provided [RCV003441889] |
Chr5:251445 [GRCh38]
Chr5:251560 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.835A>G (p.Met279Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436467]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000468486]|not provided [RCV003480648] |
Chr5:230940 [GRCh38]
Chr5:231055 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.12C>T (p.Val4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383905]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000468506] |
Chr5:218367 [GRCh38]
Chr5:218482 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.437C>T (p.Ala146Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003362797]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000472132] |
Chr5:225543 [GRCh38]
Chr5:225658 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.334G>A (p.Gly112Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000472280] |
Chr5:225440 [GRCh38]
Chr5:225555 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.570C>T (p.Cys190=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350047]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001394415] |
Chr5:225996 [GRCh38]
Chr5:226111 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.801G>A (p.Thr267=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027072]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000457309]|not provided [RCV001696814] |
Chr5:230906 [GRCh38]
Chr5:231021 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.424A>G (p.Met142Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329086]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000457452]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002481481]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003987544]|not provided [RCV001755708] |
Chr5:225530 [GRCh38]
Chr5:225645 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.516A>G (p.Ala172=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572674]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000464972] |
Chr5:225942 [GRCh38]
Chr5:226057 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1108C>A (p.His370Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003168870]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000464973]|SDHA-related condition [RCV003983082] |
Chr5:235187 [GRCh38]
Chr5:235302 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476133]|Hereditary cancer-predisposing syndrome [RCV000562914]|Leigh syndrome [RCV000714730]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000468600]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000714731]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002481484] |
Chr5:240387 [GRCh38]
Chr5:240502 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1615dup (p.Ile539fs) |
duplication |
Dilated cardiomyopathy 1GG [RCV003476128]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000457642]|Paragangliomas 5 [RCV003456080] |
Chr5:251051..251052 [GRCh38]
Chr5:251166..251167 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1590C>T (p.Ser530=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012331]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000457655] |
Chr5:251030 [GRCh38]
Chr5:251145 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383838]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000461342] |
Chr5:236459 [GRCh38]
Chr5:236574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1134G>A (p.Thr378=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009968]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000461455] |
Chr5:235213 [GRCh38]
Chr5:235328 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1233C>T (p.Gly411=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569519]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000468789]|not specified [RCV001821384] |
Chr5:235312 [GRCh38]
Chr5:235427 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000472549] |
Chr5:251098 [GRCh38]
Chr5:251213 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.638C>A (p.Thr213Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000472577] |
Chr5:228201 [GRCh38]
Chr5:228316 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002438178]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649438]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002506172]|Rhabdomyosarcoma [RCV001257552]|not provided [RCV000478025] |
Chr5:218357 [GRCh38]
Chr5:218472 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1611G>A (p.Gly537=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402372]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000457724] |
Chr5:251051 [GRCh38]
Chr5:251166 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.313-7T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002323758]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000465323]|SDHA-related condition [RCV003912813] |
Chr5:225412 [GRCh38]
Chr5:225527 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1335G>T (p.Ser445=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010829]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000465382]|SDHA-related condition [RCV003970368]|not provided [RCV003437226] |
Chr5:236502 [GRCh38]
Chr5:236617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393169]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469012] |
Chr5:233623 [GRCh38]
Chr5:233738 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476131]|Hereditary cancer-predisposing syndrome [RCV001012355]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469150]|not provided [RCV002298608] |
Chr5:251037 [GRCh38]
Chr5:251152 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.378C>T (p.Thr126=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367621]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469212] |
Chr5:225484 [GRCh38]
Chr5:225599 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002429556]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000472703]|Paragangliomas 5 [RCV000663336] |
Chr5:230931 [GRCh38]
Chr5:231046 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.715A>G (p.Ile239Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561650]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000461851] |
Chr5:228278 [GRCh38]
Chr5:228393 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.300T>C (p.Thr100=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018051]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000461867] |
Chr5:224509 [GRCh38]
Chr5:224624 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1176C>T (p.Gly392=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561058]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000461984]|not provided [RCV002475895] |
Chr5:235255 [GRCh38]
Chr5:235370 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.597G>A (p.Ser199=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569336]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469362]|not provided [RCV003478053] |
Chr5:226023 [GRCh38]
Chr5:226138 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1950C>T (p.Asn650=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013725]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473028] |
Chr5:256375 [GRCh38]
Chr5:256490 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.379G>A (p.Val127Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569237]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473055] |
Chr5:225485 [GRCh38]
Chr5:225600 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329085]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473140]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002496791]|not provided [RCV002244940] |
Chr5:225892 [GRCh38]
Chr5:226007 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.627G>A (p.Leu209=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002367620]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000458176] |
Chr5:228190 [GRCh38]
Chr5:228305 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002365668]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000458180]|not provided [RCV002469160] |
Chr5:228270 [GRCh38]
Chr5:228385 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569746]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000458208]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002475896]|Paragangliomas 5 [RCV000662939] |
Chr5:251092 [GRCh38]
Chr5:251207 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.607A>G (p.Thr203Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476123]|Hereditary cancer-predisposing syndrome [RCV000575357]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000458356]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002481480]|not provided [RCV003128946] |
Chr5:226033 [GRCh38]
Chr5:226148 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019810]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000462116] |
Chr5:233566 [GRCh38]
Chr5:233681 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256273]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000462164] |
Chr5:240381 [GRCh38]
Chr5:240496 [GRCh37]
Chr5:5p15.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393171]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000465966] |
Chr5:240439 [GRCh38]
Chr5:240554 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.997G>C (p.Val333Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383836]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469550]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002489089] |
Chr5:233578 [GRCh38]
Chr5:233693 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.323A>G (p.Asn108Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019353]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469628] |
Chr5:225429 [GRCh38]
Chr5:225544 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.13C>T (p.Arg5Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011369]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473159]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002506135]|not provided [RCV003226934] |
Chr5:218368 [GRCh38]
Chr5:218483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569083]|Hereditary pheochromocytoma-paraganglioma [RCV001153200]|Leigh syndrome [RCV001153199]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473246]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153198]|not provided [RCV003225073] |
Chr5:218360 [GRCh38]
Chr5:218475 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.695G>A (p.Arg232His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025841]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473347] |
Chr5:228258 [GRCh38]
Chr5:228373 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.901T>C (p.Tyr301His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374817]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000477068] |
Chr5:233482 [GRCh38]
Chr5:233597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.150+6T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000477184] |
Chr5:223574 [GRCh38]
Chr5:223689 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1272C>G (p.His424Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010677]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000477192]|not provided [RCV000521376] |
Chr5:236439 [GRCh38]
Chr5:236554 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574185]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000477211] |
Chr5:256413 [GRCh38]
Chr5:256528 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476120]|Hereditary cancer-predisposing syndrome [RCV001012294]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000466069] |
Chr5:251025 [GRCh38]
Chr5:251140 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1789T>C (p.Tyr597His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411518]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469710] |
Chr5:251463 [GRCh38]
Chr5:251578 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.446C>T (p.Ala149Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000473445] |
Chr5:225552 [GRCh38]
Chr5:225667 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.996_997inv (p.Val333Ile) |
inversion |
Hereditary cancer-predisposing syndrome [RCV002383837]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473544] |
Chr5:233577..233578 [GRCh38]
Chr5:233692..233693 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1140G>A (p.Leu380=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455906]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473616]|not provided [RCV000831510] |
Chr5:235219 [GRCh38]
Chr5:235334 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012271]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000477361]|not provided [RCV001764450] |
Chr5:251019 [GRCh38]
Chr5:251134 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.800C>T (p.Thr267Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027056]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000477464] |
Chr5:230905 [GRCh38]
Chr5:231020 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1136G>A (p.Arg379His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009945]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000477473]|Paragangliomas 5 [RCV002254698] |
Chr5:235215 [GRCh38]
Chr5:235330 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.313-8G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000458845] |
Chr5:225411 [GRCh38]
Chr5:225526 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017951]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000462474]|Paragangliomas 5 [RCV000662887] |
Chr5:218357 [GRCh38]
Chr5:218472 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1461C>T (p.Asn487=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568309]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000462565]|not provided [RCV003431042] |
Chr5:240386 [GRCh38]
Chr5:240501 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1725G>A (p.Ala575=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561801]|Hereditary pheochromocytoma-paraganglioma [RCV001156241]|Leigh syndrome [RCV001156240]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000466412]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001156242]|not provided [RCV003478052] |
Chr5:251399 [GRCh38]
Chr5:251514 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.408G>A (p.Gln136=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567403]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000469927] |
Chr5:225514 [GRCh38]
Chr5:225629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1734C>G (p.Thr578=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012943]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001417433]|SDHA-related condition [RCV003970367] |
Chr5:251408 [GRCh38]
Chr5:251523 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1527G>A (p.Ser509=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573305]|Hereditary pheochromocytoma-paraganglioma [RCV001152360]|Leigh syndrome [RCV001152359]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000473824]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001152358]|not provided [RCV003478054] |
Chr5:240452 [GRCh38]
Chr5:240567 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575145]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000477582]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002481482]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV003147470]|not provided [RCV001775824] |
Chr5:235194 [GRCh38]
Chr5:235309 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569661]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000793091]|not provided [RCV000479013] |
Chr5:236521 [GRCh38]
Chr5:236636 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 |
copy number loss |
See cases [RCV000510193] |
Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_004168.4(SDHA):c.924G>A (p.Thr308=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377147]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000531991] |
Chr5:233505 [GRCh38]
Chr5:233620 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) |
single nucleotide variant |
Leigh syndrome [RCV000509324] |
Chr5:228248 [GRCh38]
Chr5:228363 [GRCh37]
Chr5:5p15.33 |
uncertain significance|not provided |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 |
copy number loss |
See cases [RCV000511494] |
Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 |
copy number loss |
See cases [RCV000511513] |
Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 |
copy number loss |
See cases [RCV000511088] |
Chr5:113576..5380741 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| NM_004168.4(SDHA):c.995_996del (p.Pro332fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002386222]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000697696]|Paragangliomas 5 [RCV003148832]|not provided [RCV003313134] |
Chr5:233576..233577 [GRCh38]
Chr5:233691..233692 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 |
copy number loss |
See cases [RCV000510912] |
Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 |
copy number loss |
See cases [RCV000510921] |
Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 |
copy number loss |
See cases [RCV000510786] |
Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_004168.4(SDHA):c.1551+7G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001397090] |
Chr5:240483 [GRCh38]
Chr5:240598 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003471905]|Hereditary cancer-predisposing syndrome [RCV000575068]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001235731]|not provided [RCV000998345] |
Chr5:233614 [GRCh38]
Chr5:233729 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.18C>A (p.Gly6=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413608]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000556103] |
Chr5:218373 [GRCh38]
Chr5:218488 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1305G>C (p.Leu435=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384221]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000533635] |
Chr5:236472 [GRCh38]
Chr5:236587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.391G>A (p.Asp131Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575285]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000691087]|not provided [RCV001800774] |
Chr5:225497 [GRCh38]
Chr5:225612 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012124]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649432]|not specified [RCV000606754] |
Chr5:240480 [GRCh38]
Chr5:240595 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.61G>A (p.Ala21Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000556549] |
Chr5:218416 [GRCh38]
Chr5:218531 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476302]|Hereditary cancer-predisposing syndrome [RCV002256388]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000538564]|Paragangliomas 5 [RCV001523818]|not provided [RCV003317276] |
Chr5:240393 [GRCh38]
Chr5:240508 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1582G>A (p.Val528Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575335]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003767228] |
Chr5:251022 [GRCh38]
Chr5:251137 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1599A>G (p.Gln533=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404526]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000534189] |
Chr5:251039 [GRCh38]
Chr5:251154 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1281C>T (p.Gly427=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570135]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000792107] |
Chr5:236448 [GRCh38]
Chr5:236563 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476321]|Hereditary cancer-predisposing syndrome [RCV000575535]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000702668]|not provided [RCV003159959] |
Chr5:225979 [GRCh38]
Chr5:226094 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.728C>T (p.Ser243Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384223]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000551321] |
Chr5:228291 [GRCh38]
Chr5:228406 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1225A>C (p.Asn409His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010422]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000539132] |
Chr5:235304 [GRCh38]
Chr5:235419 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384222]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000528914] |
Chr5:236528 [GRCh38]
Chr5:236643 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1470A>G (p.Glu490=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300905] |
Chr5:240395 [GRCh38]
Chr5:240510 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.444C>T (p.Ala148=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570539]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649472] |
Chr5:225550 [GRCh38]
Chr5:225665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1038C>T (p.Ser346=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000576001]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000932394]|SDHA-related condition [RCV003952922]|not specified [RCV000599963] |
Chr5:233619 [GRCh38]
Chr5:233734 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.424_443del (p.Met142fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003278324] |
Chr5:225529..225548 [GRCh38]
Chr5:225644..225663 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1994G>A (p.Ter665=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278327] |
Chr5:256419 [GRCh38]
Chr5:256534 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.204C>A (p.Gly68=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278328] |
Chr5:224413 [GRCh38]
Chr5:224528 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1831C>G (p.Gln611Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278331] |
Chr5:254429 [GRCh38]
Chr5:254544 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278333]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777245] |
Chr5:236534 [GRCh38]
Chr5:236649 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-2612A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278334] |
Chr5:248380 [GRCh38]
Chr5:248495 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065-4C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278335] |
Chr5:235140 [GRCh38]
Chr5:235255 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1071T>C (p.Cys357=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000535339] |
Chr5:235150 [GRCh38]
Chr5:235265 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.461A>G (p.Glu154Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570801]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000691114] |
Chr5:225887 [GRCh38]
Chr5:226002 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.792C>G (p.Phe264Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420505]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000535514]|not specified [RCV001821587] |
Chr5:230897 [GRCh38]
Chr5:231012 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+9G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000540014]|SDHA-related condition [RCV003900217] |
Chr5:254515 [GRCh38]
Chr5:254630 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573837]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000804322] |
Chr5:233623 [GRCh38]
Chr5:233738 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.641G>A (p.Ser214Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571276]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001044490] |
Chr5:228204 [GRCh38]
Chr5:228319 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.706G>A (p.Ala236Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476315]|Hereditary cancer-predisposing syndrome [RCV002367928]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000558609] |
Chr5:228269 [GRCh38]
Chr5:228384 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1656C>T (p.Phe552=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573955]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000864334] |
Chr5:251096 [GRCh38]
Chr5:251211 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+13G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002066547]|not specified [RCV000605596] |
Chr5:235352 [GRCh38]
Chr5:235467 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1794G>A (p.Lys598=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000536643] |
Chr5:251468 [GRCh38]
Chr5:251583 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064+4C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000559435] |
Chr5:233649 [GRCh38]
Chr5:233764 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574361]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001203781] |
Chr5:256333 [GRCh38]
Chr5:256448 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) |
duplication |
Dilated cardiomyopathy 1GG [RCV003476311]|Hereditary cancer-predisposing syndrome [RCV001013539]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000537063]|Paragangliomas 5 [RCV003451192]|not provided [RCV001555544] |
Chr5:254482..254483 [GRCh38]
Chr5:254597..254598 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.390C>T (p.Ser130=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571960]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649489] |
Chr5:225496 [GRCh38]
Chr5:225611 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003476307]|Hereditary cancer-predisposing syndrome [RCV001011108]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000559654]|not provided [RCV003237919] |
Chr5:236501 [GRCh38]
Chr5:236616 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.150+9A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000559846] |
Chr5:223577 [GRCh38]
Chr5:223692 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.-3G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572197] |
Chr5:218353 [GRCh38]
Chr5:218468 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003352923]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000560099] |
Chr5:254447 [GRCh38]
Chr5:254562 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1188G>A (p.Thr396=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010227]|Hereditary pheochromocytoma-paraganglioma [RCV001156144]|Leigh syndrome [RCV001157830]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000541698]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001156143] |
Chr5:235267 [GRCh38]
Chr5:235382 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570081]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001342949] |
Chr5:225527 [GRCh38]
Chr5:225642 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1786G>C (p.Asp596His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570123]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000805593] |
Chr5:251460 [GRCh38]
Chr5:251575 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.123G>A (p.Lys41=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010515]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000552529]|not provided [RCV003478178] |
Chr5:223541 [GRCh38]
Chr5:223656 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+19C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002063079]|not specified [RCV000601436] |
Chr5:218437 [GRCh38]
Chr5:218552 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1879C>A (p.Leu627Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300901] |
Chr5:254477 [GRCh38]
Chr5:254592 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.786del (p.Tyr263fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002413782]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001855336]|Paragangliomas 5 [RCV003316778]|not provided [RCV000627471] |
Chr5:230890 [GRCh38]
Chr5:231005 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571754]|Leigh syndrome [RCV000764600]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000702947] |
Chr5:225551 [GRCh38]
Chr5:225666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.389C>G (p.Ser130Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358583]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000537028] |
Chr5:225495 [GRCh38]
Chr5:225610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.830C>A (p.Thr277Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472048]|Hereditary cancer-predisposing syndrome [RCV002424510]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649456] |
Chr5:230935 [GRCh38]
Chr5:231050 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472049]|Hereditary cancer-predisposing syndrome [RCV002369740]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649457]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002493038]|Paragangliomas 5 [RCV000662695] |
Chr5:233551 [GRCh38]
Chr5:233666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.25C>G (p.Arg9Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303065]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649459] |
Chr5:218380 [GRCh38]
Chr5:218495 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.967G>A (p.Gly323Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649460] |
Chr5:233548 [GRCh38]
Chr5:233663 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.290G>C (p.Arg97Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440350]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649462]|SDHA-related condition [RCV003420138]|not provided [RCV003478378] |
Chr5:224499 [GRCh38]
Chr5:224614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.162G>A (p.Gln54=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397292]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649463] |
Chr5:224371 [GRCh38]
Chr5:224486 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1989C>T (p.Ser663=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649464] |
Chr5:256414 [GRCh38]
Chr5:256529 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1782G>A (p.Arg594=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397293]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649465] |
Chr5:251456 [GRCh38]
Chr5:251571 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1443C>A (p.Val481=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303066]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649466] |
Chr5:240368 [GRCh38]
Chr5:240483 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386098]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649467]|not provided [RCV001354634] |
Chr5:236534 [GRCh38]
Chr5:236649 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_004168.4(SDHA):c.789C>T (p.Tyr263=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422382]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649468] |
Chr5:230894 [GRCh38]
Chr5:231009 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1812C>T (p.Tyr604=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406451]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649469]|SDHA-related condition [RCV003937956]|not provided [RCV002477442] |
Chr5:254410 [GRCh38]
Chr5:254525 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-10G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649470] |
Chr5:223472 [GRCh38]
Chr5:223587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+8T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649471] |
Chr5:251476 [GRCh38]
Chr5:251591 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440351]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649473] |
Chr5:236425 [GRCh38]
Chr5:236540 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1260+8T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649474] |
Chr5:235347 [GRCh38]
Chr5:235462 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.477G>T (p.Pro159=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023031]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649476] |
Chr5:225903 [GRCh38]
Chr5:226018 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-5C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649479] |
Chr5:236423 [GRCh38]
Chr5:236538 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1893C>T (p.Asp631=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406452]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649482] |
Chr5:254491 [GRCh38]
Chr5:254606 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.558C>T (p.Ala186=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343344]|Hereditary pheochromocytoma-paraganglioma [RCV001155907]|Leigh syndrome [RCV001155909]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649483]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001155908] |
Chr5:225984 [GRCh38]
Chr5:226099 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1203T>C (p.Pro401=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343345]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649484] |
Chr5:235282 [GRCh38]
Chr5:235397 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.453C>G (p.Val151=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022666]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649486] |
Chr5:225559 [GRCh38]
Chr5:225674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.546G>A (p.Lys182=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343346]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649488] |
Chr5:225972 [GRCh38]
Chr5:226087 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.52C>G (p.Leu18Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572314]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001204645] |
Chr5:218407 [GRCh38]
Chr5:218522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1229T>C (p.Met410Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000556000] |
Chr5:235308 [GRCh38]
Chr5:235423 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.775del (p.Tyr259fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000572546]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000810235]|SDHA-Related Disorders [RCV000778763] |
Chr5:230880 [GRCh38]
Chr5:230995 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.621+16T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002063187]|not specified [RCV000613395] |
Chr5:226063 [GRCh38]
Chr5:226178 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.985C>G (p.Arg329Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384224]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000556956] |
Chr5:233566 [GRCh38]
Chr5:233681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.955A>G (p.Ile319Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019482]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000557149]|Paragangliomas 5 [RCV000662946] |
Chr5:233536 [GRCh38]
Chr5:233651 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.705C>T (p.Ile235=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570641]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649478]|not specified [RCV000604923] |
Chr5:228268 [GRCh38]
Chr5:228383 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010859]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000557736]|SDHA-related condition [RCV003983121]|not provided [RCV003327419] |
Chr5:236467 [GRCh38]
Chr5:236582 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.191C>T (p.Ala64Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570877]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001048664] |
Chr5:224400 [GRCh38]
Chr5:224515 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) |
deletion |
Dilated cardiomyopathy 1GG [RCV003476304]|Hereditary cancer-predisposing syndrome [RCV001021144]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000539370]|SDHA-related condition [RCV003419981]|not provided [RCV003151099] |
Chr5:225483 [GRCh38]
Chr5:225598 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1666A>G (p.Met556Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395449]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000539477] |
Chr5:251340 [GRCh38]
Chr5:251455 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1187C>T (p.Thr396Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571028]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000706201] |
Chr5:235266 [GRCh38]
Chr5:235381 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1573G>A (p.Val525Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012216]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000558310]|not provided [RCV003238773] |
Chr5:251013 [GRCh38]
Chr5:251128 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1593G>C (p.Val531=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278323] |
Chr5:251033 [GRCh38]
Chr5:251148 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.322A>G (p.Asn108Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278329]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777243] |
Chr5:225428 [GRCh38]
Chr5:225543 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.94G>A (p.Gly32Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003278330] |
Chr5:223512 [GRCh38]
Chr5:223627 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.3:g.(?_218403)_(256583_?)del |
deletion |
Familial cancer of breast [RCV003239287] |
|
pathogenic |
| NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311074]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777242] |
Chr5:235274 [GRCh38]
Chr5:235389 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.712_713del (p.Cys238fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV003311076] |
Chr5:228273..228274 [GRCh38]
Chr5:228388..228389 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1263C>G (p.Val421=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311080] |
Chr5:236430 [GRCh38]
Chr5:236545 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.825C>T (p.Asp275=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255457]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000539832] |
Chr5:230930 [GRCh38]
Chr5:231045 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.957T>C (p.Ile319=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019510]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000536309] |
Chr5:233538 [GRCh38]
Chr5:233653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1798C>G (p.Arg600Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311069] |
Chr5:254396 [GRCh38]
Chr5:254511 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1222_1225dup (p.Asn409delinsIleTer) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV003311075] |
Chr5:235300..235301 [GRCh38]
Chr5:235415..235416 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.134C>T (p.Ala45Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571515]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000807154] |
Chr5:223552 [GRCh38]
Chr5:223667 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.457C>A (p.Leu153Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311071] |
Chr5:225883 [GRCh38]
Chr5:225998 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1375G>T (p.Asp459Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311077] |
Chr5:236542 [GRCh38]
Chr5:236657 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1293T>C (p.Ile431=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385923]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003767660]|not specified [RCV000603285] |
Chr5:236460 [GRCh38]
Chr5:236575 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1087C>G (p.His363Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649392] |
Chr5:235166 [GRCh38]
Chr5:235281 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649393] |
Chr5:251007 [GRCh38]
Chr5:251122 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.112G>C (p.Asp38His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649394] |
Chr5:223530 [GRCh38]
Chr5:223645 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649395] |
Chr5:251433 [GRCh38]
Chr5:251548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472039]|Hereditary cancer-predisposing syndrome [RCV002334184]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649396]|Paragangliomas 5 [RCV001788309] |
Chr5:235262 [GRCh38]
Chr5:235377 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386094]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649397] |
Chr5:236480 [GRCh38]
Chr5:236595 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649398] |
Chr5:233597 [GRCh38]
Chr5:233712 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388130]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649399] |
Chr5:236603 [GRCh38]
Chr5:236718 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472040]|Hereditary cancer-predisposing syndrome [RCV001012616]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649400]|not provided [RCV003313127] |
Chr5:251353 [GRCh38]
Chr5:251468 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406446]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649401] |
Chr5:254411 [GRCh38]
Chr5:254526 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162970]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649402] |
Chr5:256385 [GRCh38]
Chr5:256500 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.340A>G (p.Met114Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458123]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649403]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002485460] |
Chr5:225446 [GRCh38]
Chr5:225561 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388131]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649404] |
Chr5:240397 [GRCh38]
Chr5:240512 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303064]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649405]|not provided [RCV003432690] |
Chr5:236591 [GRCh38]
Chr5:236706 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1133C>T (p.Thr378Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009958]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649406] |
Chr5:235212 [GRCh38]
Chr5:235327 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1547dup (p.Lys517fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649407] |
Chr5:240471..240472 [GRCh38]
Chr5:240586..240587 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV001535631]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649408] |
Chr5:251069 [GRCh38]
Chr5:251184 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649410] |
Chr5:235235 [GRCh38]
Chr5:235350 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1913del (p.Thr638fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649411] |
Chr5:256338 [GRCh38]
Chr5:256453 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1828A>G (p.Ile610Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406447]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649412] |
Chr5:254426 [GRCh38]
Chr5:254541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649413]|not provided [RCV003478377] |
Chr5:240418 [GRCh38]
Chr5:240533 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472041]|Hereditary cancer-predisposing syndrome [RCV002331241]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649414] |
Chr5:235250 [GRCh38]
Chr5:235365 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386095]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649415] |
Chr5:236465 [GRCh38]
Chr5:236580 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.622-1G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649416] |
Chr5:228184 [GRCh38]
Chr5:228299 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472042]|Hereditary cancer-predisposing syndrome [RCV002422379]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649417]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002499109] |
Chr5:235157 [GRCh38]
Chr5:235272 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386096]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649418] |
Chr5:236476 [GRCh38]
Chr5:236591 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1430C>A (p.Pro477His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649419] |
Chr5:236597 [GRCh38]
Chr5:236712 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.204C>T (p.Gly68=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422380]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649420]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002485461] |
Chr5:224413 [GRCh38]
Chr5:224528 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1382T>C (p.Val461Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386097]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649421] |
Chr5:236549 [GRCh38]
Chr5:236664 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1340A>G (p.His447Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472043]|Hereditary cancer-predisposing syndrome [RCV000770776]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649422]|not provided [RCV001552485] |
Chr5:236507 [GRCh38]
Chr5:236622 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1738T>C (p.Tyr580His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397290]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649423] |
Chr5:251412 [GRCh38]
Chr5:251527 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162971]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649424] |
Chr5:235236 [GRCh38]
Chr5:235351 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1107C>A (p.His369Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002458124]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649425] |
Chr5:235186 [GRCh38]
Chr5:235301 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649426] |
Chr5:254484 [GRCh38]
Chr5:254599 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013863]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649429] |
Chr5:256386 [GRCh38]
Chr5:256501 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472044]|Gastrointestinal stromal tumor [RCV001799694]|Hereditary cancer-predisposing syndrome [RCV001025088]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649430] |
Chr5:228191 [GRCh38]
Chr5:228306 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.722_726del (p.Asp241fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649431]|Paragangliomas 5 [RCV003456112] |
Chr5:228283..228287 [GRCh38]
Chr5:228398..228402 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422381]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649433] |
Chr5:256403 [GRCh38]
Chr5:256518 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-5delinsGAAA |
indel |
Hereditary cancer-predisposing syndrome [RCV001010602]|not provided [RCV002461960] |
Chr5:236423 [GRCh38]
Chr5:236538 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.503T>C (p.Ile168Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649435] |
Chr5:225929 [GRCh38]
Chr5:226044 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011018]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649436]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002507115] |
Chr5:236491 [GRCh38]
Chr5:236606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1794+3G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406448]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649437] |
Chr5:251471 [GRCh38]
Chr5:251586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369738]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649440] |
Chr5:233521 [GRCh38]
Chr5:233636 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.530G>C (p.Ser177Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343343]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649441] |
Chr5:225956 [GRCh38]
Chr5:226071 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1813G>C (p.Asp605His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406449]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649442] |
Chr5:254411 [GRCh38]
Chr5:254526 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.260C>T (p.Thr87Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472045]|Hereditary cancer-predisposing syndrome [RCV002440349]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649443]|not provided [RCV003324782] |
Chr5:224469 [GRCh38]
Chr5:224584 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.471C>T (p.Gly157=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022948]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649444] |
Chr5:225897 [GRCh38]
Chr5:226012 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.125G>A (p.Arg42Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424509]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649445] |
Chr5:223543 [GRCh38]
Chr5:223658 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.853C>T (p.Leu285Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017973]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649446] |
Chr5:230958 [GRCh38]
Chr5:231073 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.781C>T (p.Arg261Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406450]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649447] |
Chr5:230886 [GRCh38]
Chr5:231001 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.505T>C (p.Tyr169His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334185]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649448] |
Chr5:225931 [GRCh38]
Chr5:226046 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.688G>C (p.Glu230Gln) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472046]|Hereditary cancer-predisposing syndrome [RCV002369739]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649449] |
Chr5:228251 [GRCh38]
Chr5:228366 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.154T>A (p.Ser52Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472047]|Hereditary cancer-predisposing syndrome [RCV002397291]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649450]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002499110] |
Chr5:224363 [GRCh38]
Chr5:224478 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003162972]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649451] |
Chr5:235223 [GRCh38]
Chr5:235338 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-9T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649452] |
Chr5:236419 [GRCh38]
Chr5:236534 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.965A>C (p.Gln322Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649453] |
Chr5:233546 [GRCh38]
Chr5:233661 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000649454] |
Chr5:240447 [GRCh38]
Chr5:240562 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.84A>G (p.Thr28=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002448860]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001494315]|not specified [RCV000603424] |
Chr5:223502 [GRCh38]
Chr5:223617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1311C>T (p.Ala437=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563511]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000649480]|SDHA-related condition [RCV003952921] |
Chr5:236478 [GRCh38]
Chr5:236593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.307G>A (p.Ala103Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565950]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003767117] |
Chr5:224516 [GRCh38]
Chr5:224631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 |
copy number loss |
See cases [RCV000512452] |
Chr5:113576..4175855 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 |
copy number gain |
See cases [RCV000512567] |
Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro) |
single nucleotide variant |
Paragangliomas 5 [RCV002060178]|not provided [RCV000513180] |
Chr5:233596 [GRCh38]
Chr5:233711 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1481T>C (p.Met494Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003338732]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000686308] |
Chr5:240406 [GRCh38]
Chr5:240521 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406623]|Hereditary pheochromocytoma-paraganglioma [RCV001157918]|Leigh syndrome [RCV001157917]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000700734]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001156243] |
Chr5:251401 [GRCh38]
Chr5:251516 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000698951] |
Chr5:224461..224462 [GRCh38]
Chr5:224576..224577 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472060]|Hereditary cancer-predisposing syndrome [RCV002442385]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000818760]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002493076]|Paragangliomas 5 [RCV000662906]|SDHA-related condition [RCV003420161] |
Chr5:230946 [GRCh38]
Chr5:231061 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+20G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002060801]|Paragangliomas 5 [RCV000663191] |
Chr5:236619 [GRCh38]
Chr5:236734 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.171dup (p.Val58fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001069584]|not provided [RCV000657509] |
Chr5:224379..224380 [GRCh38]
Chr5:224494..224495 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1346C>T (p.Ala449Val) |
single nucleotide variant |
Paragangliomas 5 [RCV000663179]|Pulmonary artery atresia [RCV002512120]|not provided [RCV001358067] |
Chr5:236513 [GRCh38]
Chr5:236628 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.*13T>C |
single nucleotide variant |
Paragangliomas 5 [RCV000663180]|not provided [RCV001354935] |
Chr5:256433 [GRCh38]
Chr5:256548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422447]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000793459]|Paragangliomas 5 [RCV000662705] |
Chr5:256376 [GRCh38]
Chr5:256491 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016968]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000707079]|Paragangliomas 5 [RCV000662766] |
Chr5:233587 [GRCh38]
Chr5:233702 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.210dup (p.Gly71fs) |
duplication |
Paragangliomas 5 [RCV000662833] |
Chr5:224418..224419 [GRCh38]
Chr5:224533..224534 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1663+3G>C |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799703]|Hereditary cancer-predisposing syndrome [RCV002397443]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000700223] |
Chr5:251106 [GRCh38]
Chr5:251221 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 |
copy number loss |
not provided [RCV000682510] |
Chr5:113576..1816055 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 |
copy number loss |
not provided [RCV000682511] |
Chr5:113576..5884399 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 |
copy number loss |
not provided [RCV000682512] |
Chr5:113576..6125331 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| NM_004168.4(SDHA):c.460G>A (p.Glu154Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000699059] |
Chr5:225886 [GRCh38]
Chr5:226001 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1794+105dup |
duplication |
Leigh syndrome [RCV000714539] |
Chr5:251569..251570 [GRCh38]
Chr5:251684..251685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-348598)x1 |
copy number loss |
not provided [RCV000682508] |
Chr5:113576..348598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 |
copy number loss |
not provided [RCV000682513] |
Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 |
copy number loss |
not provided [RCV000682514] |
Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472184]|Hereditary cancer-predisposing syndrome [RCV002406529]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000685210]|not provided [RCV003478399] |
Chr5:256359 [GRCh38]
Chr5:256474 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 |
copy number loss |
not provided [RCV000682515] |
Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 |
copy number gain |
not provided [RCV000682516] |
Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| NM_004168.4(SDHA):c.1776T>G (p.His592Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000699883] |
Chr5:251450 [GRCh38]
Chr5:251565 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:137017-362735)x3 |
copy number gain |
not provided [RCV000682517] |
Chr5:137017..362735 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1041G>A (p.Met347Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009777]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000701089] |
Chr5:233622 [GRCh38]
Chr5:233737 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 |
copy number loss |
not provided [RCV000682509] |
Chr5:113576..1708530 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.678G>A (p.Met226Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000687038] |
Chr5:228241 [GRCh38]
Chr5:228356 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.106A>T (p.Thr36Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472191]|Hereditary cancer-predisposing syndrome [RCV001017190]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000688361] |
Chr5:223524 [GRCh38]
Chr5:223639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.89C>T (p.Thr30Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472232]|Hereditary cancer-predisposing syndrome [RCV002369914]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000699826] |
Chr5:223507 [GRCh38]
Chr5:223622 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.587C>T (p.Thr196Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000698681] |
Chr5:226013 [GRCh38]
Chr5:226128 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000704274] |
Chr5:251382 [GRCh38]
Chr5:251497 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.150+5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165904]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000704406] |
Chr5:223573 [GRCh38]
Chr5:223688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799698]|Hereditary cancer-predisposing syndrome [RCV001012918]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000693056] |
Chr5:251415 [GRCh38]
Chr5:251530 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000687479] |
Chr5:236464 [GRCh38]
Chr5:236579 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018684]|Leigh syndrome [RCV000765828]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000701878]|not provided [RCV003478435] |
Chr5:233483 [GRCh38]
Chr5:233598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002422592]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000704504] |
Chr5:235149 [GRCh38]
Chr5:235264 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.752A>C (p.Asn251Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163169]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000693374] |
Chr5:228315 [GRCh38]
Chr5:228430 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1935C>G (p.Ile645Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406585]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000693481] |
Chr5:256360 [GRCh38]
Chr5:256475 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472238]|Hereditary cancer-predisposing syndrome [RCV002397461]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000702338]|Paragangliomas 5 [RCV003153817] |
Chr5:251391 [GRCh38]
Chr5:251506 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1352G>A (p.Arg451His) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV001594402]|Hereditary cancer-predisposing syndrome [RCV002256488]|Inborn genetic diseases [RCV002536395]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000705227] |
Chr5:236519 [GRCh38]
Chr5:236634 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.188A>G (p.Asp63Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406634]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000702942] |
Chr5:224397 [GRCh38]
Chr5:224512 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.148T>G (p.Ser50Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000688888] |
Chr5:223566 [GRCh38]
Chr5:223681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.720_722del (p.Glu240del) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000688908] |
Chr5:228281..228283 [GRCh38]
Chr5:228396..228398 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388325]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000703345] |
Chr5:240427 [GRCh38]
Chr5:240542 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1889T>C (p.Val630Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406647]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000705910]|SDHA-related condition [RCV003918140] |
Chr5:254487 [GRCh38]
Chr5:254602 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1773_1774dup (p.His592fs) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000691877] |
Chr5:251442..251443 [GRCh38]
Chr5:251557..251558 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440542]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000706101]|Paragangliomas 5 [RCV003148837] |
Chr5:218357 [GRCh38]
Chr5:218472 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp) |
inversion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000689287] |
Chr5:251426..251427 [GRCh38]
Chr5:251541..251542 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.589G>C (p.Gly197Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000692173] |
Chr5:226015 [GRCh38]
Chr5:226130 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1335G>A (p.Ser445=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010827]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000703828]|not provided [RCV003478439] |
Chr5:236502 [GRCh38]
Chr5:236617 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406538]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000686417]|not provided [RCV002254942] |
Chr5:256361 [GRCh38]
Chr5:256476 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397470]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000703879] |
Chr5:251103 [GRCh38]
Chr5:251218 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1951del (p.Glu651fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000698069] |
Chr5:256376 [GRCh38]
Chr5:256491 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.935G>A (p.Arg312His) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472207]|Hereditary cancer-predisposing syndrome [RCV001019215]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000692412] |
Chr5:233516 [GRCh38]
Chr5:233631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.150+2dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000689582] |
Chr5:223569..223570 [GRCh38]
Chr5:223684..223685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000697520] |
Chr5:251088 [GRCh38]
Chr5:251203 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.18C>T (p.Gly6=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013607]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000701813] |
Chr5:218373 [GRCh38]
Chr5:218488 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1013C>T (p.Ala338Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165926]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000706884] |
Chr5:233594 [GRCh38]
Chr5:233709 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442539]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000706931]|Paragangliomas 5 [RCV003316801] |
Chr5:230985 [GRCh38]
Chr5:231100 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.640A>G (p.Ser214Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360833]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000706981] |
Chr5:228203 [GRCh38]
Chr5:228318 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.629G>A (p.Arg210Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025100]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000687867]|not specified [RCV003489807] |
Chr5:228192 [GRCh38]
Chr5:228307 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.644_645del (p.Tyr215fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000690156] |
Chr5:228206..228207 [GRCh38]
Chr5:228321..228322 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.986G>A (p.Arg329Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019831]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000690290]|not provided [RCV001771947] |
Chr5:233567 [GRCh38]
Chr5:233682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.499A>C (p.Lys167Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002334396]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000707259] |
Chr5:225925 [GRCh38]
Chr5:226040 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000704760] |
Chr5:236527 [GRCh38]
Chr5:236642 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472210]|Hereditary cancer-predisposing syndrome [RCV003338734]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000693477] |
Chr5:251080 [GRCh38]
Chr5:251195 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000696009]|not provided [RCV003128647] |
Chr5:218395..218396 [GRCh38]
Chr5:218510..218511 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.837G>T (p.Met279Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440522]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000703041]|not provided [RCV003238191] |
Chr5:230942 [GRCh38]
Chr5:231057 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397477]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000705255] |
Chr5:251348 [GRCh38]
Chr5:251463 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000705288] |
Chr5:251397 [GRCh38]
Chr5:251512 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.14G>A (p.Arg5Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388232]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000691271]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002499232] |
Chr5:218369 [GRCh38]
Chr5:218484 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388266]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000696212]|not provided [RCV000998346] |
Chr5:236597 [GRCh38]
Chr5:236712 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000691589] |
Chr5:240471 [GRCh38]
Chr5:240586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000696711] |
Chr5:233585 [GRCh38]
Chr5:233700 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003352990]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000698751] |
Chr5:236585 [GRCh38]
Chr5:236700 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.861C>G (p.Cys287Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369962]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000705741] |
Chr5:230966 [GRCh38]
Chr5:231081 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.26G>A (p.Arg9Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000691725] |
Chr5:218381 [GRCh38]
Chr5:218496 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp) |
inversion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000694354] |
Chr5:233618..233619 [GRCh38]
Chr5:233733..233734 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.55G>A (p.Ala19Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343493]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000696776] |
Chr5:218410 [GRCh38]
Chr5:218525 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.766A>G (p.Thr256Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388256]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000694488] |
Chr5:228329 [GRCh38]
Chr5:228444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.8G>C (p.Gly3Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369948]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000703530] |
Chr5:218363 [GRCh38]
Chr5:218478 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1518A>G (p.Ile506Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388235]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000691931]|not provided [RCV003478417] |
Chr5:240443 [GRCh38]
Chr5:240558 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+91G>C |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV001544161]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001544162]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001544163] |
Chr5:225653 [GRCh38]
Chr5:225768 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.897_1260+1del |
deletion |
Paragangliomas 5 [RCV000722176] |
Chr5:233473..235335 [GRCh38]
Chr5:233588..235450 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.456+32G>A |
single nucleotide variant |
not specified [RCV001000524] |
Chr5:225594 [GRCh38]
Chr5:225709 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001907865] |
Chr5:250993 [GRCh38]
Chr5:251108 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000806707] |
Chr5:251437 [GRCh38]
Chr5:251552 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:25328-279369)x1 |
copy number loss |
not provided [RCV000744319] |
Chr5:25328..279369 [GRCh37]
Chr5:5p15.33 |
benign |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 |
copy number loss |
not provided [RCV000744320] |
Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 |
copy number gain |
not provided [RCV000744321] |
Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 |
copy number loss |
not provided [RCV000744322] |
Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:136501-237633)x3 |
copy number gain |
not provided [RCV000744328] |
Chr5:136501..237633 [GRCh37]
Chr5:5p15.33 |
benign |
| GRCh37/hg19 5p15.33(chr5:231111-262294)x1 |
copy number loss |
not provided [RCV000744331] |
Chr5:231111..262294 [GRCh37]
Chr5:5p15.33 |
benign |
| GRCh37/hg19 5p15.33(chr5:236695-262294)x1 |
copy number loss |
not provided [RCV000744332] |
Chr5:236695..262294 [GRCh37]
Chr5:5p15.33 |
benign |
| GRCh37/hg19 5p15.33(chr5:246152-262294)x1 |
copy number loss |
not provided [RCV000744333] |
Chr5:246152..262294 [GRCh37]
Chr5:5p15.33 |
benign |
| GRCh37/hg19 5p15.33(chr5:246152-264296)x1 |
copy number loss |
not provided [RCV000744334] |
Chr5:246152..264296 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1009C>G (p.Leu337Val) |
single nucleotide variant |
not provided [RCV001532512] |
Chr5:233590 [GRCh38]
Chr5:233705 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1795-66C>T |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV001544166]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001544167]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001544302] |
Chr5:254327 [GRCh38]
Chr5:254442 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.930A>C (p.Gly310=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001504224] |
Chr5:233511 [GRCh38]
Chr5:233626 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.486A>G (p.Arg162=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337021]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000978609] |
Chr5:225912 [GRCh38]
Chr5:226027 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.895+8A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000869860]|SDHA-related condition [RCV003983228] |
Chr5:231008 [GRCh38]
Chr5:231123 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 |
copy number loss |
not provided [RCV000762763] |
Chr5:52186..4163906 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.145G>C (p.Asp49His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001043194]|not provided [RCV003236859] |
Chr5:223563 [GRCh38]
Chr5:223678 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_218349)_(1297373_?)dup |
duplication |
Interstitial lung disease 2 [RCV001031280] |
Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411598]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001067730] |
Chr5:256329 [GRCh38]
Chr5:256444 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.619A>T (p.Arg207Trp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001046070] |
Chr5:226045 [GRCh38]
Chr5:226160 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.770+7A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001455596] |
Chr5:228340 [GRCh38]
Chr5:228455 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-5A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000922838] |
Chr5:235139 [GRCh38]
Chr5:235254 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.585G>C (p.Arg195=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024612]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000868956]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002501285] |
Chr5:226011 [GRCh38]
Chr5:226126 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1974G>T (p.Pro658=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002416227]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001489218] |
Chr5:256399 [GRCh38]
Chr5:256514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.918C>T (p.Leu306=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018968]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000877742] |
Chr5:233499 [GRCh38]
Chr5:233614 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.895+9G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001441334] |
Chr5:231009 [GRCh38]
Chr5:231124 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1686G>C (p.Leu562=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400036]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001417522] |
Chr5:251360 [GRCh38]
Chr5:251475 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.19C>T (p.Leu7=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013999]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000943379] |
Chr5:218374 [GRCh38]
Chr5:218489 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.414C>T (p.Ala138=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001455176] |
Chr5:225520 [GRCh38]
Chr5:225635 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-9T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001419853] |
Chr5:240349 [GRCh38]
Chr5:240464 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1878C>T (p.Thr626=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001472426] |
Chr5:254476 [GRCh38]
Chr5:254591 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.622-4T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363325]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000884513] |
Chr5:228181 [GRCh38]
Chr5:228296 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.999C>T (p.Val333=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019965]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000867551] |
Chr5:233580 [GRCh38]
Chr5:233695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-7G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001488057] |
Chr5:250985 [GRCh38]
Chr5:251100 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1140G>C (p.Leu380=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332820]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000871043] |
Chr5:235219 [GRCh38]
Chr5:235334 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1392T>G (p.Gly464=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001417559] |
Chr5:236559 [GRCh38]
Chr5:236674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-4C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399933]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000871165] |
Chr5:251334 [GRCh38]
Chr5:251449 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.313-4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320062]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000881226] |
Chr5:225415 [GRCh38]
Chr5:225530 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.960C>T (p.Asn320=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372589]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001434569] |
Chr5:233541 [GRCh38]
Chr5:233656 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.51G>A (p.Ala17=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023712]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001082535]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002501254] |
Chr5:218406 [GRCh38]
Chr5:218521 [GRCh37]
Chr5:5p15.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004168.4(SDHA):c.1433-10T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000945795] |
Chr5:240348 [GRCh38]
Chr5:240463 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001064925] |
Chr5:254498 [GRCh38]
Chr5:254613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.36C>A (p.Ser12Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001036917] |
Chr5:218391 [GRCh38]
Chr5:218506 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.578C>G (p.Ala193Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001040886] |
Chr5:226004 [GRCh38]
Chr5:226119 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 |
copy number loss |
not provided [RCV001005646] |
Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| NM_004168.4(SDHA):c.737G>A (p.Arg246His) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473657]|Hereditary cancer-predisposing syndrome [RCV002379566]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001055444] |
Chr5:228300 [GRCh38]
Chr5:228415 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1564_1566del (p.His522del) |
deletion |
Dilated cardiomyopathy 1GG [RCV003473682]|Hereditary cancer-predisposing syndrome [RCV002402440]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001062225] |
Chr5:251002..251004 [GRCh38]
Chr5:251117..251119 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799730]|Hereditary cancer-predisposing syndrome [RCV002451264]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001062355]|Paragangliomas 5 [RCV003455281]|not provided [RCV003235460] |
Chr5:225462 [GRCh38]
Chr5:225577 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.895+6G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001061641] |
Chr5:231006 [GRCh38]
Chr5:231121 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.17G>T (p.Gly6Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409443]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001053064] |
Chr5:218372 [GRCh38]
Chr5:218487 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1656del (p.Phe552fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001041854] |
Chr5:251096 [GRCh38]
Chr5:251211 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.256A>G (p.Asn86Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001069653] |
Chr5:224465 [GRCh38]
Chr5:224580 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.718G>A (p.Glu240Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001049666] |
Chr5:228281 [GRCh38]
Chr5:228396 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.649G>C (p.Val217Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001039092] |
Chr5:228212 [GRCh38]
Chr5:228327 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.79C>G (p.Gln27Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001039324] |
Chr5:223497 [GRCh38]
Chr5:223612 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002379570]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001056738] |
Chr5:233612 [GRCh38]
Chr5:233727 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.869T>C (p.Leu290Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473645]|Hereditary cancer-predisposing syndrome [RCV002374907]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001051573] |
Chr5:230974 [GRCh38]
Chr5:231089 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1375G>C (p.Asp459His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256652]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001042958] |
Chr5:236542 [GRCh38]
Chr5:236657 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.83dup (p.Gly29fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001037616] |
Chr5:223500..223501 [GRCh38]
Chr5:223615..223616 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1687G>T (p.Val563Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307861]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001051934] |
Chr5:251361 [GRCh38]
Chr5:251476 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+1G>A |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473649]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001052460] |
Chr5:235340 [GRCh38]
Chr5:235455 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393339]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001070472] |
Chr5:236595 [GRCh38]
Chr5:236710 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+3G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001052520] |
Chr5:225565 [GRCh38]
Chr5:225680 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) |
copy number loss |
5p partial monosomy syndrome [RCV000767709] |
Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_004168.4(SDHA):c.1374G>A (p.Leu458=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001060517] |
Chr5:236541 [GRCh38]
Chr5:236656 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001060536] |
Chr5:251091 [GRCh38]
Chr5:251206 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.64-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363550]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001036409]|not provided [RCV001528244] |
Chr5:223480 [GRCh38]
Chr5:223595 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.621+1G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001050872] |
Chr5:226048 [GRCh38]
Chr5:226163 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu) |
indel |
Hereditary cancer-predisposing syndrome [RCV002393299]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001060966] |
Chr5:233618..233619 [GRCh38]
Chr5:233733..233734 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) |
copy number loss |
5p partial monosomy syndrome [RCV000767710] |
Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000792416]|Paragangliomas 5 [RCV003453639] |
Chr5:235337 [GRCh38]
Chr5:235452 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.673C>T (p.Leu225=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372570]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000924942] |
Chr5:228236 [GRCh38]
Chr5:228351 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1083A>G (p.Lys361=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427312]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001418893] |
Chr5:235162 [GRCh38]
Chr5:235277 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.846G>A (p.Arg282=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445136]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000981454] |
Chr5:230951 [GRCh38]
Chr5:231066 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1560A>G (p.Gln520=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001415360] |
Chr5:251000 [GRCh38]
Chr5:251115 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1173T>C (p.Ala391=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000918088] |
Chr5:235252 [GRCh38]
Chr5:235367 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.447C>G (p.Ala149=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001484797] |
Chr5:225553 [GRCh38]
Chr5:225668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.354C>T (p.Asn118=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337016]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000973738] |
Chr5:225460 [GRCh38]
Chr5:225575 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-6T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001402307] |
Chr5:235138 [GRCh38]
Chr5:235253 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-7G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000983788] |
Chr5:250985 [GRCh38]
Chr5:251100 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.993C>T (p.Ala331=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382153]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001500175] |
Chr5:233574 [GRCh38]
Chr5:233689 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.573T>C (p.Cys191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024470]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000940696] |
Chr5:225999 [GRCh38]
Chr5:226114 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.46C>T (p.Leu16=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000921727] |
Chr5:218401 [GRCh38]
Chr5:218516 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.687G>A (p.Gly229=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372419]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000865278] |
Chr5:228250 [GRCh38]
Chr5:228365 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1119A>G (p.Pro373=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434092]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000866761]|SDHA-related condition [RCV003892817] |
Chr5:235198 [GRCh38]
Chr5:235313 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.675G>C (p.Leu225=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372572]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000925912] |
Chr5:228238 [GRCh38]
Chr5:228353 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011316]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000865554]|not provided [RCV001547986] |
Chr5:236561 [GRCh38]
Chr5:236676 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_004168.4(SDHA):c.795C>T (p.Ser265=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002416088]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000877990] |
Chr5:230900 [GRCh38]
Chr5:231015 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1197G>T (p.Pro399=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336858]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000877457] |
Chr5:235276 [GRCh38]
Chr5:235391 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.918C>A (p.Leu306=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001452109] |
Chr5:233499 [GRCh38]
Chr5:233614 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1110C>T (p.His370=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427162]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001486585] |
Chr5:235189 [GRCh38]
Chr5:235304 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1663+7A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000978101]|not provided [RCV003438642] |
Chr5:251110 [GRCh38]
Chr5:251225 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1596G>A (p.Leu532=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400029]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000926023]|not provided [RCV003478582] |
Chr5:251036 [GRCh38]
Chr5:251151 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311072]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777241] |
Chr5:236599 [GRCh38]
Chr5:236714 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311078]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777244] |
Chr5:236456 [GRCh38]
Chr5:236571 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.944dup (p.Gly316fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001019364]|Paragangliomas 5 [RCV001537861] |
Chr5:233522..233523 [GRCh38]
Chr5:233637..233638 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 |
copy number loss |
not provided [RCV001005640] |
Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 |
copy number loss |
not provided [RCV001005641] |
Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1885T>C (p.Tyr629His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311073] |
Chr5:254483 [GRCh38]
Chr5:254598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1841A>C (p.Gln614Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003311079] |
Chr5:254439 [GRCh38]
Chr5:254554 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 |
copy number loss |
not provided [RCV001005644] |
Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_004168.4(SDHA):c.730A>G (p.Ile244Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002381853]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000818938] |
Chr5:228293 [GRCh38]
Chr5:228408 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-10C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001408277] |
Chr5:236418 [GRCh38]
Chr5:236533 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000813707] |
Chr5:233523..233526 [GRCh38]
Chr5:233638..233641 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.316G>C (p.Gly106Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000797368] |
Chr5:225422 [GRCh38]
Chr5:225537 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.898A>C (p.Ile300Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000812836] |
Chr5:233479 [GRCh38]
Chr5:233594 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1830C>G (p.Ile610Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406780]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000802672] |
Chr5:254428 [GRCh38]
Chr5:254543 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.485G>C (p.Arg162Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000819046] |
Chr5:225911 [GRCh38]
Chr5:226026 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.510G>C (p.Gln170His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257988]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000820842] |
Chr5:225936 [GRCh38]
Chr5:226051 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1092C>G (p.Val364=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000977019] |
Chr5:235171 [GRCh38]
Chr5:235286 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.498G>T (p.Gly166=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000813838] |
Chr5:225924 [GRCh38]
Chr5:226039 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.676A>T (p.Met226Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000796563] |
Chr5:228239 [GRCh38]
Chr5:228354 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.796T>C (p.Cys266Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000799284] |
Chr5:230901 [GRCh38]
Chr5:231016 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1575G>A (p.Val525=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001400092] |
Chr5:251015 [GRCh38]
Chr5:251130 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.249A>G (p.Ala83=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427407]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000976609] |
Chr5:224458 [GRCh38]
Chr5:224573 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003225735]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000797716] |
Chr5:251371 [GRCh38]
Chr5:251486 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000813142]|Paragangliomas 5 [RCV001523817]|not provided [RCV002462179] |
Chr5:254464 [GRCh38]
Chr5:254579 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.293C>T (p.Ser98Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166199]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000801045]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001329183] |
Chr5:224502 [GRCh38]
Chr5:224617 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011765]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000793864] |
Chr5:240397 [GRCh38]
Chr5:240512 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.992C>G (p.Ala331Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000799683] |
Chr5:233573 [GRCh38]
Chr5:233688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000799695] |
Chr5:233588 [GRCh38]
Chr5:233703 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.70A>G (p.Thr24Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166352]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000816218] |
Chr5:223488 [GRCh38]
Chr5:223603 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.897C>T (p.Gly299=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370095]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000797742] |
Chr5:233478 [GRCh38]
Chr5:233593 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1895T>C (p.Val632Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408982]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000821481] |
Chr5:254493 [GRCh38]
Chr5:254608 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166259]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000806830] |
Chr5:235178 [GRCh38]
Chr5:235293 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000818060] |
Chr5:226045..226046 [GRCh38]
Chr5:226160..226161 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1774C>A (p.His592Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397618]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000801678] |
Chr5:251448 [GRCh38]
Chr5:251563 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255522]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000795043] |
Chr5:251467 [GRCh38]
Chr5:251582 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.872A>T (p.Glu291Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370081]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000795093] |
Chr5:230977 [GRCh38]
Chr5:231092 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.313-10G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000798776] |
Chr5:225409 [GRCh38]
Chr5:225524 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.805G>A (p.Ala269Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000798224] |
Chr5:230910 [GRCh38]
Chr5:231025 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000819886] |
Chr5:254483 [GRCh38]
Chr5:254598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017412]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000821732]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003447567]|not provided [RCV001551721] |
Chr5:235206 [GRCh38]
Chr5:235321 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.871G>A (p.Glu291Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370178]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000810928] |
Chr5:230976 [GRCh38]
Chr5:231091 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.559C>T (p.His187Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000801803]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002507389] |
Chr5:225985 [GRCh38]
Chr5:226100 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1774C>T (p.His592Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000820093] |
Chr5:251448 [GRCh38]
Chr5:251563 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011430]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000812060] |
Chr5:236576 [GRCh38]
Chr5:236691 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.350A>G (p.Asp117Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000818402] |
Chr5:225456 [GRCh38]
Chr5:225571 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.6G>A (p.Ser2=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363492]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000976847] |
Chr5:218361 [GRCh38]
Chr5:218476 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1064+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406799]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000807030] |
Chr5:233646 [GRCh38]
Chr5:233761 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.296A>G (p.His99Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000798855] |
Chr5:224505 [GRCh38]
Chr5:224620 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.365A>G (p.His122Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307530]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000816860]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002495158] |
Chr5:225471 [GRCh38]
Chr5:225586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397721]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000822013]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002495177] |
Chr5:251368 [GRCh38]
Chr5:251483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909G>A (p.Val637Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166093]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000792459] |
Chr5:256334 [GRCh38]
Chr5:256449 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.595T>A (p.Ser199Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472363]|Hereditary cancer-predisposing syndrome [RCV001024725]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000800619] |
Chr5:226021 [GRCh38]
Chr5:226136 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.552G>A (p.Gly184=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346006]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000871614]|SDHA-related condition [RCV003948172] |
Chr5:225978 [GRCh38]
Chr5:226093 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002360914]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000793019] |
Chr5:228195 [GRCh38]
Chr5:228310 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1480A>G (p.Met494Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000797162] |
Chr5:240405 [GRCh38]
Chr5:240520 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406818]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000809667]|not provided [RCV003320757] |
Chr5:230881 [GRCh38]
Chr5:230996 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256503]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000793250]|not provided [RCV003148864] |
Chr5:240472 [GRCh38]
Chr5:240587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000815995] |
Chr5:240450 [GRCh38]
Chr5:240565 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473505]|Hereditary cancer-predisposing syndrome [RCV002381857]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000819929] |
Chr5:236516 [GRCh38]
Chr5:236631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391064]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001053500]|not provided [RCV000998347] |
Chr5:240451 [GRCh38]
Chr5:240566 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.944G>A (p.Gly315Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000816441] |
Chr5:233525 [GRCh38]
Chr5:233640 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406866]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000817037] |
Chr5:256352 [GRCh38]
Chr5:256467 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003338812]|Leigh syndrome [RCV001089548]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000803949] |
Chr5:251455 [GRCh38]
Chr5:251570 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388445]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000796925] |
Chr5:240416 [GRCh38]
Chr5:240531 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.590G>A (p.Gly197Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000797002] |
Chr5:226016 [GRCh38]
Chr5:226131 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000804084] |
Chr5:251410 [GRCh38]
Chr5:251525 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442752]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000820717] |
Chr5:235211 [GRCh38]
Chr5:235326 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1477G>T (p.Val493Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000801188] |
Chr5:240402 [GRCh38]
Chr5:240517 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003338804]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000797915] |
Chr5:240435 [GRCh38]
Chr5:240550 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.523G>A (p.Gly175Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336612]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000801943] |
Chr5:225949 [GRCh38]
Chr5:226064 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1516A>G (p.Ile506Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000821609] |
Chr5:240441 [GRCh38]
Chr5:240556 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1684C>A (p.Leu562Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397577]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000794345] |
Chr5:251358 [GRCh38]
Chr5:251473 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1579del (p.Arg527fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002390625]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000809642]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002501099]|Paragangliomas 5 [RCV003316813] |
Chr5:251018 [GRCh38]
Chr5:251133 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 5p15.33(chr5:230777-437815)x3 |
copy number gain |
not provided [RCV000848013] |
Chr5:230777..437815 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433982]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000815226]|not provided [RCV001569248] |
Chr5:235201 [GRCh38]
Chr5:235316 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.785C>T (p.Thr262Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472426]|Hereditary cancer-predisposing syndrome [RCV001026883]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000815298] |
Chr5:230890 [GRCh38]
Chr5:231005 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.11T>G (p.Val4Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010277]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003769427] |
Chr5:218366 [GRCh38]
Chr5:218481 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 |
copy number loss |
not provided [RCV001005643] |
Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_004168.4(SDHA):c.369C>G (p.Phe123Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020912]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001373562] |
Chr5:225475 [GRCh38]
Chr5:225590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000811773] |
Chr5:233603 [GRCh38]
Chr5:233718 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.421T>C (p.Tyr141His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000810217]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV002290977] |
Chr5:225527 [GRCh38]
Chr5:225642 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000795749] |
Chr5:228230 [GRCh38]
Chr5:228345 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000793933] |
Chr5:236525 [GRCh38]
Chr5:236640 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013675]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000812350] |
Chr5:256338 [GRCh38]
Chr5:256453 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1880dup (p.Ser628fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000801184] |
Chr5:254477..254478 [GRCh38]
Chr5:254592..254593 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+2del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003166289]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000810130] |
Chr5:218420 [GRCh38]
Chr5:218535 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.28del (p.Leu10fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000810724] |
Chr5:218383 [GRCh38]
Chr5:218498 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1103_1105del (p.Leu368del) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001044195] |
Chr5:235180..235182 [GRCh38]
Chr5:235295..235297 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000807121] |
Chr5:233600 [GRCh38]
Chr5:233715 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.852C>A (p.Gly284=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002444941]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000872455] |
Chr5:230957 [GRCh38]
Chr5:231072 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1212C>A (p.Pro404=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002354729]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001462181] |
Chr5:235291 [GRCh38]
Chr5:235406 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307557]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000822495]|Paragangliomas 5 [RCV003453730] |
Chr5:236426 [GRCh38]
Chr5:236541 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1291A>G (p.Ile431Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307439]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000796031] |
Chr5:236458 [GRCh38]
Chr5:236573 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1662G>T (p.Arg554=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000821769] |
Chr5:251102 [GRCh38]
Chr5:251217 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000821834] |
Chr5:251086 [GRCh38]
Chr5:251201 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002406734]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000794100]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002487656] |
Chr5:256374 [GRCh38]
Chr5:256489 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000794154] |
Chr5:254469 [GRCh38]
Chr5:254584 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472347]|Hereditary cancer-predisposing syndrome [RCV001010533]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000796276] |
Chr5:235325 [GRCh38]
Chr5:235440 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1398A>C (p.Ala466=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001465001] |
Chr5:236565 [GRCh38]
Chr5:236680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.440C>A (p.Pro147His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000811030] |
Chr5:225546 [GRCh38]
Chr5:225661 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1861C>G (p.His621Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000799620] |
Chr5:254459 [GRCh38]
Chr5:254574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.812C>T (p.Thr271Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415913]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000816383] |
Chr5:230917 [GRCh38]
Chr5:231032 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.127G>A (p.Ala43Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010719]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000800127] |
Chr5:223545 [GRCh38]
Chr5:223660 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1979C>T (p.Ala660Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000813379] |
Chr5:256404 [GRCh38]
Chr5:256519 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363084]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000808922] |
Chr5:228207 [GRCh38]
Chr5:228322 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000823267] |
Chr5:225934 [GRCh38]
Chr5:226049 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002336693]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000817414]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001843554] |
Chr5:235270 [GRCh38]
Chr5:235385 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1989C>G (p.Ser663=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000979776] |
Chr5:256414 [GRCh38]
Chr5:256529 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.5C>A (p.Ser2Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000797937] |
Chr5:218360 [GRCh38]
Chr5:218475 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.856C>T (p.Pro286Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018011]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000801027] |
Chr5:230961 [GRCh38]
Chr5:231076 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1146C>A (p.Gly382=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454016]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000872236] |
Chr5:235225 [GRCh38]
Chr5:235340 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-7T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001476978] |
Chr5:223475 [GRCh38]
Chr5:223590 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001045602] |
Chr5:251366 [GRCh38]
Chr5:251481 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.(?_218346)_(1295046_?)del |
deletion |
Interstitial lung disease 2 [RCV001031825] |
Chr5:218461..1295161 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1663+5G>C |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473632]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001046874] |
Chr5:251108 [GRCh38]
Chr5:251223 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 |
copy number loss |
not provided [RCV001005642] |
Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 |
copy number loss |
not provided [RCV001005645] |
Chr5:113576..5657333 [GRCh37]
Chr5:5p15.33-15.32 |
pathogenic |
| NM_004168.4(SDHA):c.1795-5C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001415584]|not provided [RCV000998349] |
Chr5:254388 [GRCh38]
Chr5:254503 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.504T>G (p.Ile168Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023477] |
Chr5:225930 [GRCh38]
Chr5:226045 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1162A>G (p.Met388Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010055] |
Chr5:235241 [GRCh38]
Chr5:235356 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1220A>G (p.His407Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010388]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001862768] |
Chr5:235299 [GRCh38]
Chr5:235414 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.276G>C (p.Lys92Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436661]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001065659] |
Chr5:224485 [GRCh38]
Chr5:224600 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022699]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003769564] |
Chr5:225563 [GRCh38]
Chr5:225678 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.-3G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021631] |
Chr5:218353 [GRCh38]
Chr5:218468 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.7G>C (p.Gly3Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418534]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001064968] |
Chr5:218362 [GRCh38]
Chr5:218477 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001201712] |
Chr5:236482 [GRCh38]
Chr5:236597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer) |
insertion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001205713] |
Chr5:235162..235163 [GRCh38]
Chr5:235277..235278 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.699del (p.Val234fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001240188] |
Chr5:228262 [GRCh38]
Chr5:228377 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1531C>G (p.Leu511Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402589]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001204913] |
Chr5:240456 [GRCh38]
Chr5:240571 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.494A>G (p.Asp165Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003163694]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001219829] |
Chr5:225920 [GRCh38]
Chr5:226035 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.620G>A (p.Arg207Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163526]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001202794] |
Chr5:226046 [GRCh38]
Chr5:226161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.320T>G (p.Ile107Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001238881] |
Chr5:225426 [GRCh38]
Chr5:225541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-8_1909-4del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001238891] |
Chr5:256323..256327 [GRCh38]
Chr5:256438..256442 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.99_108del (p.Phe33fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001223903] |
Chr5:223516..223525 [GRCh38]
Chr5:223631..223640 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001227291] |
Chr5:235249 [GRCh38]
Chr5:235364 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799748]|Inborn genetic diseases [RCV002563895]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001237617] |
Chr5:225937 [GRCh38]
Chr5:226052 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001224422] |
Chr5:223549 [GRCh38]
Chr5:223664 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1654T>G (p.Phe552Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402770]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001242634] |
Chr5:251094 [GRCh38]
Chr5:251209 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1445C>A (p.Pro482His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001220887] |
Chr5:240370 [GRCh38]
Chr5:240485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.119A>G (p.Asn40Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001222957] |
Chr5:223537 [GRCh38]
Chr5:223652 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411815]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001220657] |
Chr5:254417 [GRCh38]
Chr5:254532 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1005G>A (p.Lys335=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001237573] |
Chr5:233586 [GRCh38]
Chr5:233701 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val) |
inversion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001239330] |
Chr5:251425..251426 [GRCh38]
Chr5:251540..251541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001224646] |
Chr5:240396 [GRCh38]
Chr5:240511 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001203540] |
Chr5:251101 [GRCh38]
Chr5:251216 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.514G>A (p.Ala172Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001214432] |
Chr5:225940 [GRCh38]
Chr5:226055 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001223393] |
Chr5:233558 [GRCh38]
Chr5:233673 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001220797] |
Chr5:251452 [GRCh38]
Chr5:251567 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001238075] |
Chr5:224513..224514 [GRCh38]
Chr5:224628..224629 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.763G>A (p.Ala255Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001239987] |
Chr5:228326 [GRCh38]
Chr5:228441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV003166504]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001241320] |
Chr5:251038..251040 [GRCh38]
Chr5:251153..251155 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1958A>T (p.Asp653Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001227009] |
Chr5:256383 [GRCh38]
Chr5:256498 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.25C>T (p.Arg9Trp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001225154] |
Chr5:218380 [GRCh38]
Chr5:218495 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473815]|Gastrointestinal stromal tumor [RCV001799749]|Hereditary cancer-predisposing syndrome [RCV002411878]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001237926] |
Chr5:235334 [GRCh38]
Chr5:235449 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:136735-238729)x3 |
copy number gain |
not provided [RCV000845803] |
Chr5:136735..238729 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.40C>T (p.Arg14Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322073]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001221686]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002484205] |
Chr5:218395 [GRCh38]
Chr5:218510 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.13C>G (p.Arg5Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393625]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001241674] |
Chr5:218368 [GRCh38]
Chr5:218483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436856]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001221573] |
Chr5:235194 [GRCh38]
Chr5:235309 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.568T>C (p.Cys190Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258097]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001043245] |
Chr5:225994 [GRCh38]
Chr5:226109 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380898]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001221891] |
Chr5:225515 [GRCh38]
Chr5:225630 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-6T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001225521] |
Chr5:224354 [GRCh38]
Chr5:224469 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) |
copy number loss |
5p partial monosomy syndrome [RCV001195139] |
Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001246366] |
Chr5:256377 [GRCh38]
Chr5:256492 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.396G>T (p.Trp132Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473794]|Hereditary cancer-predisposing syndrome [RCV003284086]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001228234] |
Chr5:225502 [GRCh38]
Chr5:225617 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663+6C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001225632] |
Chr5:251109 [GRCh38]
Chr5:251224 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.121A>C (p.Lys41Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002365956]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001212961] |
Chr5:223539 [GRCh38]
Chr5:223654 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001229481] |
Chr5:235148 [GRCh38]
Chr5:235263 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1795-1G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013115]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000853252]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001379066] |
Chr5:254392 [GRCh38]
Chr5:254507 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.870dup (p.Glu291fs) |
duplication |
Paragangliomas 5 [RCV003317010] |
Chr5:230974..230975 [GRCh38]
Chr5:231089..231090 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1609G>C (p.Gly537Arg) |
single nucleotide variant |
not provided [RCV003313538] |
Chr5:251049 [GRCh38]
Chr5:251164 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022698]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001204959]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002497343]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV002271609] |
Chr5:225563 [GRCh38]
Chr5:225678 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.373G>C (p.Asp125His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021015]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001205740] |
Chr5:225479 [GRCh38]
Chr5:225594 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402720]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001229903]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002480754]|Paragangliomas 5 [RCV003336351] |
Chr5:251104 [GRCh38]
Chr5:251219 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NC_000005.10:g.(?_218349)_(1297373_?)del |
deletion |
Interstitial lung disease 2 [RCV001032442] |
Chr5:218464..1297488 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.817A>G (p.Thr273Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001230323] |
Chr5:230922 [GRCh38]
Chr5:231037 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.17G>C (p.Gly6Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411605]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001068961] |
Chr5:218372 [GRCh38]
Chr5:218487 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs) |
deletion |
Leigh syndrome [RCV001197787]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003339530]|not provided [RCV001528748] |
Chr5:256369..256370 [GRCh38]
Chr5:256484..256485 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411846]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001229948] |
Chr5:256352 [GRCh38]
Chr5:256467 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.263C>G (p.Ala88Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001228307]|not provided [RCV001751443] |
Chr5:224472 [GRCh38]
Chr5:224587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.716T>G (p.Ile239Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475525]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003106870]|SDHA-related condition [RCV003420549] |
Chr5:228279 [GRCh38]
Chr5:228394 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_218337)_(235455_236542)del |
deletion |
Neurodegeneration with ataxia and late-onset optic atrophy [RCV003317852] |
Chr5:218337..235455 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NC_000005.9:g.(?_218337)_(257198_?)dup |
duplication |
not specified [RCV003317853] |
Chr5:218337..257198 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.622-8del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000908417] |
Chr5:228175 [GRCh38]
Chr5:228290 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.783C>T (p.Arg261=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000930451] |
Chr5:230888 [GRCh38]
Chr5:231003 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.537G>A (p.Lys179=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346131]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000938432] |
Chr5:225963 [GRCh38]
Chr5:226078 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1692G>A (p.Glu564=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400109]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000952374] |
Chr5:251366 [GRCh38]
Chr5:251481 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1908+10G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001432294] |
Chr5:254516 [GRCh38]
Chr5:254631 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1638A>C (p.Leu546=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399932]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001484156] |
Chr5:251078 [GRCh38]
Chr5:251193 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1977A>G (p.Pro659=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013815]|Hereditary pheochromocytoma-paraganglioma [RCV001158014]|Leigh syndrome [RCV001158015]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000887554]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001158016] |
Chr5:256402 [GRCh38]
Chr5:256517 [GRCh37]
Chr5:5p15.33 |
benign|likely benign|uncertain significance |
| NM_004168.4(SDHA):c.663C>T (p.Ala221=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307727]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001418916] |
Chr5:228226 [GRCh38]
Chr5:228341 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1572C>T (p.Ala524=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400113]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000954797] |
Chr5:251012 [GRCh38]
Chr5:251127 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.351C>T (p.Asp117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454148]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001406492] |
Chr5:225457 [GRCh38]
Chr5:225572 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1119A>C (p.Pro373=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434125]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000871881] |
Chr5:235198 [GRCh38]
Chr5:235313 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-7G>T |
single nucleotide variant |
not provided [RCV000948691] |
Chr5:240351 [GRCh38]
Chr5:240466 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.622-7C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000951952]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000987494]|not provided [RCV003736943] |
Chr5:228178 [GRCh38]
Chr5:228293 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1377C>T (p.Asp459=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003307696]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000924630] |
Chr5:236544 [GRCh38]
Chr5:236659 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1126C>T (p.Leu376=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445036]|Mitochondrial complex II deficiency, nuclear type 1 [RCV000926983]|not provided [RCV003478584] |
Chr5:235205 [GRCh38]
Chr5:235320 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.939A>C (p.Gly313=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001405606] |
Chr5:233520 [GRCh38]
Chr5:233635 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.480T>C (p.Phe160=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003163775]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001228166] |
Chr5:225906 [GRCh38]
Chr5:226021 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402603]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001207335] |
Chr5:251352 [GRCh38]
Chr5:251467 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.653A>T (p.Glu218Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001218571] |
Chr5:228216 [GRCh38]
Chr5:228331 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.245_252del (p.Glu82fs) |
deletion |
Gastrointestinal stromal tumor [RCV003483794]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001218717] |
Chr5:224453..224460 [GRCh38]
Chr5:224568..224575 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_004168.4(SDHA):c.*249T>C |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV001153828]|Leigh syndrome [RCV001153830]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153829] |
Chr5:256669 [GRCh38]
Chr5:256784 [GRCh37]
Chr5:5p15.33 |
benign|uncertain significance |
| NM_004168.4(SDHA):c.1778C>T (p.Ala593Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001239207] |
Chr5:251452 [GRCh38]
Chr5:251567 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.835A>T (p.Met279Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293991]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001201690]|not provided [RCV003478728] |
Chr5:230940 [GRCh38]
Chr5:231055 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.620G>C (p.Arg207Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001242941] |
Chr5:226046 [GRCh38]
Chr5:226161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002379936]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001244671]|SDHA-Related Disorders [RCV001265565] |
Chr5:236518 [GRCh38]
Chr5:236633 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001242993] |
Chr5:251047 [GRCh38]
Chr5:251162 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.252G>T (p.Gly84=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430032]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001243121] |
Chr5:224461 [GRCh38]
Chr5:224576 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001208094] |
Chr5:233611 [GRCh38]
Chr5:233726 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1662G>C (p.Arg554=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001236409] |
Chr5:251102 [GRCh38]
Chr5:251217 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415972]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001078147]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001224277]|not provided [RCV001759641] |
Chr5:256409 [GRCh38]
Chr5:256524 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355125]|Hereditary pheochromocytoma-paraganglioma [RCV001152036]|Leigh syndrome [RCV001152038]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001152037]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001206474] |
Chr5:225509 [GRCh38]
Chr5:225624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1795-6C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001036595] |
Chr5:254387 [GRCh38]
Chr5:254502 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402614]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001208709]|not provided [RCV003478733] |
Chr5:251036 [GRCh38]
Chr5:251151 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.20T>C (p.Leu7Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002418744]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001216867] |
Chr5:218375 [GRCh38]
Chr5:218490 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.916C>G (p.Leu306Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001227668] |
Chr5:233497 [GRCh38]
Chr5:233612 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.926A>G (p.Glu309Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473791]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001227669] |
Chr5:233507 [GRCh38]
Chr5:233622 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.10G>A (p.Val4Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473824]|Hereditary cancer-predisposing syndrome [RCV002430036]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001243739] |
Chr5:218365 [GRCh38]
Chr5:218480 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.*179G>A |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV001153827]|Leigh syndrome [RCV001153826]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001152542]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002480550] |
Chr5:256599 [GRCh38]
Chr5:256714 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.120C>A (p.Asn40Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001234262] |
Chr5:223538 [GRCh38]
Chr5:223653 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-1G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001205972] |
Chr5:236427 [GRCh38]
Chr5:236542 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.211G>A (p.Gly71Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001240524] |
Chr5:224420 [GRCh38]
Chr5:224535 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001224144] |
Chr5:251359 [GRCh38]
Chr5:251474 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001237755] |
Chr5:235154 [GRCh38]
Chr5:235269 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001234597] |
Chr5:251439 [GRCh38]
Chr5:251554 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.728C>G (p.Ser243Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001224708] |
Chr5:228291 [GRCh38]
Chr5:228406 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366013]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001224819] |
Chr5:228195 [GRCh38]
Chr5:228310 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1302C>T (p.Gly434=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001211773] |
Chr5:236469 [GRCh38]
Chr5:236584 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1306T>C (p.Tyr436His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002379782]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001206499] |
Chr5:236473 [GRCh38]
Chr5:236588 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003380908]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001224984] |
Chr5:236483 [GRCh38]
Chr5:236598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001241335] |
Chr5:240466 [GRCh38]
Chr5:240581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.98T>C (p.Phe33Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001218025] |
Chr5:223516 [GRCh38]
Chr5:223631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV003294077]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001225383] |
Chr5:240471..240472 [GRCh38]
Chr5:240586..240587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.214dup (p.Ala72fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001228059] |
Chr5:224419..224420 [GRCh38]
Chr5:224534..224535 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.345G>C (p.Glu115Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451534]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001228080] |
Chr5:225451 [GRCh38]
Chr5:225566 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.313-6T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001479131] |
Chr5:225413 [GRCh38]
Chr5:225528 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.594C>T (p.His198=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258054]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001409537] |
Chr5:226020 [GRCh38]
Chr5:226135 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+7G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000933687] |
Chr5:240483 [GRCh38]
Chr5:240598 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1795-3C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013116]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001056823]|not provided [RCV000998350] |
Chr5:254390 [GRCh38]
Chr5:254505 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.770+10T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001506721] |
Chr5:228343 [GRCh38]
Chr5:228458 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.745G>A (p.Ala249Thr) |
single nucleotide variant |
Paragangliomas 5 [RCV003234834] |
Chr5:228308 [GRCh38]
Chr5:228423 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+85G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000987496] |
Chr5:254591 [GRCh38]
Chr5:254706 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1908+90A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV000987497] |
Chr5:254596 [GRCh38]
Chr5:254711 [GRCh37]
Chr5:5p15.33 |
benign |
| GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 |
copy number loss |
not provided [RCV002472712] |
Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:113577-380112)x1 |
copy number loss |
not provided [RCV002473811] |
Chr5:113577..380112 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.933T>C (p.Cys311=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019190]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002549500] |
Chr5:233514 [GRCh38]
Chr5:233629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.712T>G (p.Cys238Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026073]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001222388] |
Chr5:228275 [GRCh38]
Chr5:228390 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012930]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001234032] |
Chr5:251413 [GRCh38]
Chr5:251528 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473563]|Hereditary cancer-predisposing syndrome [RCV001009814]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002549304] |
Chr5:233641 [GRCh38]
Chr5:233756 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1765C>A (p.Arg589=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013029]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001459383] |
Chr5:251439 [GRCh38]
Chr5:251554 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1846A>C (p.Lys616Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013393] |
Chr5:254444 [GRCh38]
Chr5:254559 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1890G>C (p.Val630=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013473]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001410466] |
Chr5:254488 [GRCh38]
Chr5:254603 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1875C>T (p.His625=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013495]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001451921] |
Chr5:254473 [GRCh38]
Chr5:254588 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1881G>A (p.Leu627=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013506] |
Chr5:254479 [GRCh38]
Chr5:254594 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1953G>A (p.Glu651=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013825]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002068877] |
Chr5:256378 [GRCh38]
Chr5:256493 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1960T>C (p.Cys654Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013860] |
Chr5:256385 [GRCh38]
Chr5:256500 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.810C>T (p.His270=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027185]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001428715] |
Chr5:230915 [GRCh38]
Chr5:231030 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.221T>C (p.Leu74Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001049640] |
Chr5:224430 [GRCh38]
Chr5:224545 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1664-34C>T |
single nucleotide variant |
not provided [RCV001811607] |
Chr5:251304 [GRCh38]
Chr5:251419 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.531C>T (p.Ser177=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023919]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003769588] |
Chr5:225957 [GRCh38]
Chr5:226072 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1028T>A (p.Val343Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473694]|Hereditary cancer-predisposing syndrome [RCV002379612]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001068605] |
Chr5:233609 [GRCh38]
Chr5:233724 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1215C>A (p.Thr405=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002355087]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001066932] |
Chr5:235294 [GRCh38]
Chr5:235409 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1338del (p.His447fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001211082]|Paragangliomas 5 [RCV003336306]|not provided [RCV001093471] |
Chr5:236505 [GRCh38]
Chr5:236620 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.553C>G (p.Gln185Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473597]|Hereditary cancer-predisposing syndrome [RCV001024247]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001070085] |
Chr5:225979 [GRCh38]
Chr5:226094 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1302C>A (p.Gly434=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010865] |
Chr5:236469 [GRCh38]
Chr5:236584 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1305G>A (p.Leu435=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010877]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001410811] |
Chr5:236472 [GRCh38]
Chr5:236587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.267T>A (p.Cys89Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016312]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001221035] |
Chr5:224476 [GRCh38]
Chr5:224591 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.279G>A (p.Leu93=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016372]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003769487] |
Chr5:224488 [GRCh38]
Chr5:224603 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-7T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001047440] |
Chr5:236421 [GRCh38]
Chr5:236536 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1036T>G (p.Ser346Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017096] |
Chr5:233617 [GRCh38]
Chr5:233732 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011482]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001235217] |
Chr5:236591 [GRCh38]
Chr5:236706 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1073G>T (p.Gly358Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017216] |
Chr5:235152 [GRCh38]
Chr5:235267 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.626T>C (p.Leu209Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025064]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001369092] |
Chr5:228189 [GRCh38]
Chr5:228304 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV001156339]|Leigh syndrome [RCV001156338]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001153726] |
Chr5:256394 [GRCh38]
Chr5:256509 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu) |
indel |
Hereditary cancer-predisposing syndrome [RCV001018484]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001240518] |
Chr5:230995..230996 [GRCh38]
Chr5:231110..231111 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.236G>A (p.Gly79Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451194]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001048302] |
Chr5:224445 [GRCh38]
Chr5:224560 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.675G>A (p.Leu225=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025621]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001395754] |
Chr5:228238 [GRCh38]
Chr5:228353 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.68C>T (p.Pro23Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025780] |
Chr5:223486 [GRCh38]
Chr5:223601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.691dup (p.Cys231fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001025803] |
Chr5:228253..228254 [GRCh38]
Chr5:228368..228369 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.896-32G>A |
single nucleotide variant |
not specified [RCV001000525] |
Chr5:233445 [GRCh38]
Chr5:233560 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1177G>A (p.Val393Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010145]|Hereditary pheochromocytoma-paraganglioma [RCV001156141]|Leigh syndrome [RCV001156142]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001156140]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001238661]|SDHA-related condition [RCV003432990]|not provided [RCV003478607] |
Chr5:235256 [GRCh38]
Chr5:235371 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.120C>G (p.Asn40Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010348]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001862766] |
Chr5:223538 [GRCh38]
Chr5:223653 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.551G>C (p.Gly184Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024215]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001369871] |
Chr5:225977 [GRCh38]
Chr5:226092 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.578C>T (p.Ala193Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001036295] |
Chr5:226004 [GRCh38]
Chr5:226119 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473570]|Hereditary cancer-predisposing syndrome [RCV001013540]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001052870]|not provided [RCV003159171] |
Chr5:254484 [GRCh38]
Chr5:254599 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.131C>T (p.Ser44Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001212267] |
Chr5:223549 [GRCh38]
Chr5:223664 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1177G>C (p.Val393Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001038411] |
Chr5:235256 [GRCh38]
Chr5:235371 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001235732] |
Chr5:254423 [GRCh38]
Chr5:254538 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1433-3T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001208443] |
Chr5:240355 [GRCh38]
Chr5:240470 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160278]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001041775] |
Chr5:240477 [GRCh38]
Chr5:240592 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.101A>G (p.His34Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009716]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001226605] |
Chr5:223519 [GRCh38]
Chr5:223634 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473672]|Hereditary pheochromocytoma-paraganglioma [RCV001155910]|Leigh syndrome [RCV001157611]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001060414]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001157610]|not provided [RCV003480940] |
Chr5:226009 [GRCh38]
Chr5:226124 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1411A>G (p.Ile471Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001230166] |
Chr5:236578 [GRCh38]
Chr5:236693 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.16G>A (p.Gly6Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001220326] |
Chr5:218371 [GRCh38]
Chr5:218486 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.962G>T (p.Ser321Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002374916]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001052866] |
Chr5:233543 [GRCh38]
Chr5:233658 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.210A>T (p.Gly70=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014459] |
Chr5:224419 [GRCh38]
Chr5:224534 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.952C>T (p.Leu318Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001212408] |
Chr5:233533 [GRCh38]
Chr5:233648 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.*102G>A |
single nucleotide variant |
Hereditary pheochromocytoma-paraganglioma [RCV001152539]|Leigh syndrome [RCV001152541]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001152540] |
Chr5:256522 [GRCh38]
Chr5:256637 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.424A>C (p.Met142Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001052974] |
Chr5:225530 [GRCh38]
Chr5:225645 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1397dup (p.Cys467fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001061275] |
Chr5:236563..236564 [GRCh38]
Chr5:236678..236679 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.523G>C (p.Gly175Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023787]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001337582] |
Chr5:225949 [GRCh38]
Chr5:226064 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.34A>G (p.Ser12Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002451462]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001213050] |
Chr5:218389 [GRCh38]
Chr5:218504 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.836T>C (p.Met279Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434447]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001039066] |
Chr5:230941 [GRCh38]
Chr5:231056 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1271A>G (p.His424Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010658]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001860645] |
Chr5:236438 [GRCh38]
Chr5:236553 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393462]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001205294] |
Chr5:240387 [GRCh38]
Chr5:240502 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001202665] |
Chr5:251464 [GRCh38]
Chr5:251579 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.19C>G (p.Leu7Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001039293] |
Chr5:218374 [GRCh38]
Chr5:218489 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.469G>A (p.Gly157Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001053677] |
Chr5:225895 [GRCh38]
Chr5:226010 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.638C>T (p.Thr213Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001236994] |
Chr5:228201 [GRCh38]
Chr5:228316 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010873]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002549330] |
Chr5:236471 [GRCh38]
Chr5:236586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001236035] |
Chr5:236486 [GRCh38]
Chr5:236601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1591G>T (p.Val531Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402664]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001220419]|not provided [RCV002484197] |
Chr5:251031 [GRCh38]
Chr5:251146 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1393C>A (p.Arg465=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001220483] |
Chr5:236560 [GRCh38]
Chr5:236675 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.734A>T (p.His245Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001054031] |
Chr5:228297 [GRCh38]
Chr5:228412 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.889C>T (p.Pro297Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001054039] |
Chr5:230994 [GRCh38]
Chr5:231109 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+3_456+4delinsCT |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001058233] |
Chr5:225565..225566 [GRCh38]
Chr5:225680..225681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.602T>C (p.Leu201Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001058277] |
Chr5:226028 [GRCh38]
Chr5:226143 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1315G>C (p.Gly439Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010931] |
Chr5:236482 [GRCh38]
Chr5:236597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.564G>A (p.Arg188=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024366]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001493597] |
Chr5:225990 [GRCh38]
Chr5:226105 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1353C>T (p.Arg451=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011093]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003769439] |
Chr5:236520 [GRCh38]
Chr5:236635 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1370T>A (p.Leu457His) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473566]|Hereditary cancer-predisposing syndrome [RCV001011188]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002298821] |
Chr5:236537 [GRCh38]
Chr5:236652 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001234164] |
Chr5:251008 [GRCh38]
Chr5:251123 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.548G>A (p.Gly183Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001219211] |
Chr5:225974 [GRCh38]
Chr5:226089 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.181G>T (p.Glu61Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001037508] |
Chr5:224390 [GRCh38]
Chr5:224505 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1381G>T (p.Val461Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011289]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001223002] |
Chr5:236548 [GRCh38]
Chr5:236663 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+1_1432+2delinsAG |
indel |
Dilated cardiomyopathy 1GG [RCV003473567]|Hereditary cancer-predisposing syndrome [RCV001011550] |
Chr5:236600..236601 [GRCh38]
Chr5:236715..236716 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.338A>G (p.Asn113Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001215082] |
Chr5:225444 [GRCh38]
Chr5:225559 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402577]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001202435] |
Chr5:240479 [GRCh38]
Chr5:240594 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393508]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001216224] |
Chr5:235326 [GRCh38]
Chr5:235441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011574]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001247825] |
Chr5:240363 [GRCh38]
Chr5:240478 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011619]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001860674] |
Chr5:240370 [GRCh38]
Chr5:240485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011674]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001860678] |
Chr5:240382 [GRCh38]
Chr5:240497 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011909]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001050816] |
Chr5:223567 [GRCh38]
Chr5:223682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.149C>T (p.Ser50Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011911]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001234880] |
Chr5:223567 [GRCh38]
Chr5:223682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63G>T (p.Ala21=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025228]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001350507] |
Chr5:218418 [GRCh38]
Chr5:218533 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.635A>G (p.Asp212Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001217329] |
Chr5:228198 [GRCh38]
Chr5:228313 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001217978] |
Chr5:225420..225421 [GRCh38]
Chr5:225535..225536 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.484del (p.Arg162fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001218027]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002497742] |
Chr5:225910 [GRCh38]
Chr5:226025 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.160C>T (p.Gln54Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001236314]|not provided [RCV001565032] |
Chr5:224369 [GRCh38]
Chr5:224484 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.608C>T (p.Thr203Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473769]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001218178] |
Chr5:226034 [GRCh38]
Chr5:226149 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001218244] |
Chr5:251061 [GRCh38]
Chr5:251176 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.832G>A (p.Ala278Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436923]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001236446] |
Chr5:230937 [GRCh38]
Chr5:231052 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1884C>G (p.Ser628=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411786]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001213221] |
Chr5:254482 [GRCh38]
Chr5:254597 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1667T>C (p.Met556Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012629]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001319900]|not specified [RCV003396598] |
Chr5:251341 [GRCh38]
Chr5:251456 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.896-11G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256692]|Hereditary pheochromocytoma-paraganglioma [RCV001157734]|Leigh syndrome [RCV001157733]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001157735] |
Chr5:233466 [GRCh38]
Chr5:233581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473800]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001232735] |
Chr5:251044 [GRCh38]
Chr5:251159 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+2T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001055477]|not provided [RCV003238290] |
Chr5:235341 [GRCh38]
Chr5:235456 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.6G>C (p.Ser2=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025905]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001446069] |
Chr5:218361 [GRCh38]
Chr5:218476 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001236554] |
Chr5:254439..254441 [GRCh38]
Chr5:254554..254556 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.26G>T (p.Arg9Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001041332] |
Chr5:218381 [GRCh38]
Chr5:218496 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1463C>T (p.Ala488Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001059668] |
Chr5:240388 [GRCh38]
Chr5:240503 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1687G>A (p.Val563Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409477]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001059823] |
Chr5:251361 [GRCh38]
Chr5:251476 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.454G>C (p.Glu152Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001214350] |
Chr5:225560 [GRCh38]
Chr5:225675 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1830C>T (p.Ile610=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013343] |
Chr5:254428 [GRCh38]
Chr5:254543 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.734A>G (p.His245Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026306]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001862365] |
Chr5:228297 [GRCh38]
Chr5:228412 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.736C>T (p.Arg246Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026333]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001034942]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV002468615] |
Chr5:228299 [GRCh38]
Chr5:228414 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1413C>G (p.Ile471Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001039572] |
Chr5:236580 [GRCh38]
Chr5:236695 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.484A>T (p.Arg162Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023147] |
Chr5:225910 [GRCh38]
Chr5:226025 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.761T>G (p.Val254Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026631] |
Chr5:228324 [GRCh38]
Chr5:228439 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1883C>A (p.Ser628Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013516] |
Chr5:254481 [GRCh38]
Chr5:254596 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001054131]|not specified [RCV002282442] |
Chr5:251386 [GRCh38]
Chr5:251501 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.32T>A (p.Leu11Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001054132] |
Chr5:218387 [GRCh38]
Chr5:218502 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.959A>G (p.Asn320Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019521]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001247226] |
Chr5:233540 [GRCh38]
Chr5:233655 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456G>A (p.Glu152=) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473758]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001212300]|not provided [RCV003442772] |
Chr5:225562 [GRCh38]
Chr5:225677 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.305C>T (p.Ala102Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160529]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001064465] |
Chr5:224514 [GRCh38]
Chr5:224629 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.382A>G (p.Lys128Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021242] |
Chr5:225488 [GRCh38]
Chr5:225603 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001040638] |
Chr5:256379 [GRCh38]
Chr5:256494 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.40C>G (p.Arg14Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322164]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001248215] |
Chr5:218395 [GRCh38]
Chr5:218510 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.224G>A (p.Arg75Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014928]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001362073]|not provided [RCV003478622] |
Chr5:224433 [GRCh38]
Chr5:224548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.646T>C (p.Phe216Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001212719] |
Chr5:228209 [GRCh38]
Chr5:228324 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.120C>T (p.Asn40=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010349]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001492667] |
Chr5:223538 [GRCh38]
Chr5:223653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.274A>C (p.Lys92Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001037040] |
Chr5:224483 [GRCh38]
Chr5:224598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001245717] |
Chr5:254489 [GRCh38]
Chr5:254604 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001213612] |
Chr5:251451 [GRCh38]
Chr5:251566 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001204999] |
Chr5:251070 [GRCh38]
Chr5:251185 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.895+28T>C |
single nucleotide variant |
not provided [RCV001811605] |
Chr5:231028 [GRCh38]
Chr5:231143 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1432+39C>T |
single nucleotide variant |
not provided [RCV001811606] |
Chr5:236638 [GRCh38]
Chr5:236753 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1038C>A (p.Ser346=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017100]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003769496]|not provided [RCV003456466] |
Chr5:233619 [GRCh38]
Chr5:233734 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.10G>T (p.Val4Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017300]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001873289] |
Chr5:218365 [GRCh38]
Chr5:218480 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001051757] |
Chr5:254444 [GRCh38]
Chr5:254559 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.809A>T (p.His270Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160275]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001041664]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002479266] |
Chr5:230914 [GRCh38]
Chr5:231029 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.22T>C (p.Ser8Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001041680] |
Chr5:218377 [GRCh38]
Chr5:218492 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1365C>T (p.Asn455=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011058]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002068835] |
Chr5:236532 [GRCh38]
Chr5:236647 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001056476] |
Chr5:251038 [GRCh38]
Chr5:251153 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.630A>G (p.Arg210=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025116]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001045034] |
Chr5:228193 [GRCh38]
Chr5:228308 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.151A>G (p.Ile51Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011960] |
Chr5:224360 [GRCh38]
Chr5:224475 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.886C>T (p.His296Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018428]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001049537] |
Chr5:230991 [GRCh38]
Chr5:231106 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001232477] |
Chr5:256365 [GRCh38]
Chr5:256480 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.667G>C (p.Asp223His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025527]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001341508] |
Chr5:228230 [GRCh38]
Chr5:228345 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1636C>A (p.Leu546Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012393] |
Chr5:251076 [GRCh38]
Chr5:251191 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.310C>T (p.Gln104Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018677]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001383484] |
Chr5:224519 [GRCh38]
Chr5:224634 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.313-4C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018765]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001426122] |
Chr5:225415 [GRCh38]
Chr5:225530 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001215822] |
Chr5:254409 [GRCh38]
Chr5:254524 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001063216] |
Chr5:225894 [GRCh38]
Chr5:226009 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1280G>T (p.Gly427Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001203852] |
Chr5:236447 [GRCh38]
Chr5:236562 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.6G>T (p.Ser2=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025906]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002069027] |
Chr5:218361 [GRCh38]
Chr5:218476 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.320T>A (p.Ile107Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001042880] |
Chr5:225426 [GRCh38]
Chr5:225541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436649]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001063568] |
Chr5:235202 [GRCh38]
Chr5:235317 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.720G>A (p.Glu240=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026161]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002552407] |
Chr5:228283 [GRCh38]
Chr5:228398 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1111C>T (p.Leu371=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001462106] |
Chr5:235190 [GRCh38]
Chr5:235305 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 |
copy number loss |
not provided [RCV001258846] |
Chr5:113576..4305172 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:113576-1286005)x1 |
copy number loss |
not provided [RCV001258849] |
Chr5:113576..1286005 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 |
copy number loss |
See cases [RCV002285039] |
Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:26141-2537457)x3 |
copy number gain |
Global developmental delay [RCV002284255] |
Chr5:26141..2537457 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001303025] |
Chr5:251430 [GRCh38]
Chr5:251545 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001350259] |
Chr5:240411 [GRCh38]
Chr5:240526 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.619A>G (p.Arg207Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001301154] |
Chr5:226045 [GRCh38]
Chr5:226160 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.900A>G (p.Ile300Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001314057] |
Chr5:233481 [GRCh38]
Chr5:233596 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.896-3C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001341902] |
Chr5:233474 [GRCh38]
Chr5:233589 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.935G>T (p.Arg312Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166644]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001295581] |
Chr5:233516 [GRCh38]
Chr5:233631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.58A>G (p.Lys20Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002357093]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001298669] |
Chr5:218413 [GRCh38]
Chr5:218528 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1667T>A (p.Met556Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001301625] |
Chr5:251341 [GRCh38]
Chr5:251456 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001342503] |
Chr5:251038 [GRCh38]
Chr5:251153 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001327910] |
Chr5:236497..236498 [GRCh38]
Chr5:236612..236613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001307448] |
Chr5:233612 [GRCh38]
Chr5:233727 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169607]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001339874] |
Chr5:225998 [GRCh38]
Chr5:226113 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001308861] |
Chr5:251073 [GRCh38]
Chr5:251188 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001317338] |
Chr5:251442 [GRCh38]
Chr5:251557 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404833]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001351177] |
Chr5:251418 [GRCh38]
Chr5:251533 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.677T>C (p.Met226Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001299483] |
Chr5:228240 [GRCh38]
Chr5:228355 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1087C>T (p.His363Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001298787] |
Chr5:235166 [GRCh38]
Chr5:235281 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002411958]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001301495] |
Chr5:233638 [GRCh38]
Chr5:233753 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001309196] |
Chr5:235208 [GRCh38]
Chr5:235323 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1130C>T (p.Ala377Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322230]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001317575] |
Chr5:235209 [GRCh38]
Chr5:235324 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.941A>G (p.Glu314Gly) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473851]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001299900] |
Chr5:233522 [GRCh38]
Chr5:233637 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1089C>A (p.His363Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001349753] |
Chr5:235168 [GRCh38]
Chr5:235283 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-173_1585dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001325808] |
Chr5:250818..250819 [GRCh38]
Chr5:250933..250934 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+4A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001303372] |
Chr5:240480 [GRCh38]
Chr5:240595 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412048]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001326893] |
Chr5:254506 [GRCh38]
Chr5:254621 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1543A>G (p.Met515Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402832]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001299585] |
Chr5:240468 [GRCh38]
Chr5:240583 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.530G>A (p.Ser177Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350524]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001296741] |
Chr5:225956 [GRCh38]
Chr5:226071 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.662C>G (p.Ala221Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001340648] |
Chr5:228225 [GRCh38]
Chr5:228340 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350606]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001326356] |
Chr5:233597 [GRCh38]
Chr5:233712 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.488C>T (p.Thr163Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341676]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001326412]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003152761] |
Chr5:225914 [GRCh38]
Chr5:226029 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1340A>C (p.His447Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001350157] |
Chr5:236507 [GRCh38]
Chr5:236622 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1605T>C (p.Gly535=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001422966] |
Chr5:251045 [GRCh38]
Chr5:251160 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+3del |
deletion |
Dilated cardiomyopathy 1GG [RCV003473853]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001306930] |
Chr5:218421 [GRCh38]
Chr5:218536 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1295T>C (p.Val432Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384540]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001372668] |
Chr5:236462 [GRCh38]
Chr5:236577 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1158A>C (p.Thr386=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001396966] |
Chr5:235237 [GRCh38]
Chr5:235352 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169884]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001368729] |
Chr5:233618 [GRCh38]
Chr5:233733 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV001336640]|Hereditary cancer-predisposing syndrome [RCV002402923]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001865854] |
Chr5:251065 [GRCh38]
Chr5:251180 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1715T>C (p.Met572Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169902]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001370334] |
Chr5:251389 [GRCh38]
Chr5:251504 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.355T>C (p.Trp119Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001349827] |
Chr5:225461 [GRCh38]
Chr5:225576 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.308_309inv (p.Ala103Val) |
inversion |
Hereditary cancer-predisposing syndrome [RCV002319698]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001312570] |
Chr5:224517..224518 [GRCh38]
Chr5:224632..224633 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1650G>A (p.Lys550=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003284315]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001422453] |
Chr5:251090 [GRCh38]
Chr5:251205 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.328G>C (p.Ala110Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001351460] |
Chr5:225434 [GRCh38]
Chr5:225549 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1012del (p.Ala338fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002357289]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001383279]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002508961] |
Chr5:233592 [GRCh38]
Chr5:233707 [GRCh37]
Chr5:5p15.33 |
pathogenic|not provided |
| NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001295152] |
Chr5:236575 [GRCh38]
Chr5:236690 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1294G>A (p.Val432Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001362125] |
Chr5:236461 [GRCh38]
Chr5:236576 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.149C>G (p.Ser50Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001373831] |
Chr5:223567 [GRCh38]
Chr5:223682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.150+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166740]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001306330] |
Chr5:223572 [GRCh38]
Chr5:223687 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+2T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001306427] |
Chr5:254508 [GRCh38]
Chr5:254623 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001344676] |
Chr5:236512 [GRCh38]
Chr5:236627 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1910T>C (p.Val637Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412089]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001346382] |
Chr5:256335 [GRCh38]
Chr5:256450 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.572G>C (p.Cys191Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473889]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001373494] |
Chr5:225998 [GRCh38]
Chr5:226113 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1403C>T (p.Ala468Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001364058] |
Chr5:236570 [GRCh38]
Chr5:236685 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404866]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001364671] |
Chr5:251466 [GRCh38]
Chr5:251581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1220A>T (p.His407Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001318441] |
Chr5:235299 [GRCh38]
Chr5:235414 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001325325] |
Chr5:251373 [GRCh38]
Chr5:251488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.190G>A (p.Ala64Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001296934] |
Chr5:224399 [GRCh38]
Chr5:224514 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.94G>C (p.Gly32Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001318592] |
Chr5:223512 [GRCh38]
Chr5:223627 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1735A>G (p.Ile579Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001301482] |
Chr5:251409 [GRCh38]
Chr5:251524 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166697]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001301498] |
Chr5:235280 [GRCh38]
Chr5:235395 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412074]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001342075] |
Chr5:235338 [GRCh38]
Chr5:235453 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1545G>T (p.Met515Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001323905] |
Chr5:240470 [GRCh38]
Chr5:240585 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001371441] |
Chr5:250992 [GRCh38]
Chr5:251107 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294348]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001342100] |
Chr5:235269 [GRCh38]
Chr5:235384 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1138C>A (p.Leu380Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001301577] |
Chr5:235217 [GRCh38]
Chr5:235332 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.997G>A (p.Val333Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384359]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001301605] |
Chr5:233578 [GRCh38]
Chr5:233693 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.895+4G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001343753] |
Chr5:231004 [GRCh38]
Chr5:231119 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-7T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001359103] |
Chr5:236421 [GRCh38]
Chr5:236536 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001343849] |
Chr5:254448 [GRCh38]
Chr5:254563 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001321882] |
Chr5:236522 [GRCh38]
Chr5:236637 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473872]|Hereditary cancer-predisposing syndrome [RCV002395760]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001345903] |
Chr5:251049 [GRCh38]
Chr5:251164 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001359503] |
Chr5:254424 [GRCh38]
Chr5:254539 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473885]|Hereditary cancer-predisposing syndrome [RCV002438848]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001365305] |
Chr5:224475 [GRCh38]
Chr5:224590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.715A>C (p.Ile239Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366202]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001325600] |
Chr5:228278 [GRCh38]
Chr5:228393 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.748A>G (p.Lys250Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294325]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001338000] |
Chr5:228311 [GRCh38]
Chr5:228426 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001327512] |
Chr5:254432 [GRCh38]
Chr5:254547 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339595]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001318903] |
Chr5:251368 [GRCh38]
Chr5:251483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404817]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001346982]|not provided [RCV003154005] |
Chr5:251008 [GRCh38]
Chr5:251123 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001294635] |
Chr5:235220 [GRCh38]
Chr5:235335 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395765]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001347124] |
Chr5:240378 [GRCh38]
Chr5:240493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001302113] |
Chr5:233641 [GRCh38]
Chr5:233756 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001347354] |
Chr5:254406 [GRCh38]
Chr5:254521 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.905G>A (p.Gly302Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377407]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001323316]|not provided [RCV001586126] |
Chr5:233486 [GRCh38]
Chr5:233601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001324403] |
Chr5:233645 [GRCh38]
Chr5:233760 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395768]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001347501] |
Chr5:240433 [GRCh38]
Chr5:240548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1230G>C (p.Met410Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001325014] |
Chr5:235309 [GRCh38]
Chr5:235424 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.992C>T (p.Ala331Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003355389]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001322315]|not provided [RCV002546094] |
Chr5:233573 [GRCh38]
Chr5:233688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001344327] |
Chr5:230989 [GRCh38]
Chr5:231104 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001344337] |
Chr5:254501 [GRCh38]
Chr5:254616 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.845G>C (p.Arg282Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003373108]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001300894] |
Chr5:230950 [GRCh38]
Chr5:231065 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.64-7T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001298651] |
Chr5:223475 [GRCh38]
Chr5:223590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1319A>T (p.Glu440Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001321130] |
Chr5:236486 [GRCh38]
Chr5:236601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001363743] |
Chr5:230914..230919 [GRCh38]
Chr5:231029..231034 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.551G>A (p.Gly184Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294234]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001305199]|not provided [RCV003135944] |
Chr5:225977 [GRCh38]
Chr5:226092 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1945T>G (p.Leu649Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413833]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001351552] |
Chr5:256370 [GRCh38]
Chr5:256485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.450G>A (p.Val150=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001298738] |
Chr5:225556 [GRCh38]
Chr5:225671 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001364342] |
Chr5:236543 [GRCh38]
Chr5:236658 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.528G>C (p.Gln176His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001364421] |
Chr5:225954 [GRCh38]
Chr5:226069 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003365348]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001343344] |
Chr5:254478 [GRCh38]
Chr5:254593 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001366085] |
Chr5:256383 [GRCh38]
Chr5:256498 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003284274]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001366168] |
Chr5:256371 [GRCh38]
Chr5:256486 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-9C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001339871] |
Chr5:224351 [GRCh38]
Chr5:224466 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.502A>G (p.Ile168Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341675]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001325409] |
Chr5:225928 [GRCh38]
Chr5:226043 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.770G>A (p.Gly257Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001358988] |
Chr5:228333 [GRCh38]
Chr5:228448 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1039A>G (p.Met347Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002395791]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001359006] |
Chr5:233620 [GRCh38]
Chr5:233735 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.565T>C (p.Cys189Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001309048] |
Chr5:225991 [GRCh38]
Chr5:226106 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413875]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001366404] |
Chr5:254495 [GRCh38]
Chr5:254610 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1761G>A (p.Glu587=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413937]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001396044] |
Chr5:251435 [GRCh38]
Chr5:251550 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.7G>T (p.Gly3Trp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001350608] |
Chr5:218362 [GRCh38]
Chr5:218477 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001299758] |
Chr5:235289 [GRCh38]
Chr5:235404 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+3G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001371369] |
Chr5:235342 [GRCh38]
Chr5:235457 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002379989]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001295683] |
Chr5:236480 [GRCh38]
Chr5:236595 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1165A>G (p.Ile389Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322268]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001337806] |
Chr5:235244 [GRCh38]
Chr5:235359 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003166745]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001306645] |
Chr5:254402 [GRCh38]
Chr5:254517 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.891T>G (p.Pro297=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298712]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001421869]|SDHA-related condition [RCV003953775] |
Chr5:230996 [GRCh38]
Chr5:231111 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002402942]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001340709] |
Chr5:240467 [GRCh38]
Chr5:240582 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.585G>A (p.Arg195=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001414234] |
Chr5:226011 [GRCh38]
Chr5:226126 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1862A>G (p.His621Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003346472]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001326946] |
Chr5:254460 [GRCh38]
Chr5:254575 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001297559] |
Chr5:254491 [GRCh38]
Chr5:254606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.791T>G (p.Phe264Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001368599] |
Chr5:230896 [GRCh38]
Chr5:231011 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001360847] |
Chr5:235163 [GRCh38]
Chr5:235278 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001348869] |
Chr5:254430 [GRCh38]
Chr5:254545 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1389T>C (p.Phe463=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001395196] |
Chr5:236556 [GRCh38]
Chr5:236671 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.170T>A (p.Val57Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001337890] |
Chr5:224379 [GRCh38]
Chr5:224494 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1200C>T (p.Ile400=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350797]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001413784] |
Chr5:235279 [GRCh38]
Chr5:235394 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1147A>G (p.Ile383Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001365720] |
Chr5:235226 [GRCh38]
Chr5:235341 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.782G>A (p.Arg261His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413873]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001365806] |
Chr5:230887 [GRCh38]
Chr5:231002 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1205T>G (p.Val402Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001359427] |
Chr5:235284 [GRCh38]
Chr5:235399 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.126G>A (p.Arg42=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169961]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001395474] |
Chr5:223544 [GRCh38]
Chr5:223659 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.493G>A (p.Asp165Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002341779]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001365965] |
Chr5:225919 [GRCh38]
Chr5:226034 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1818C>T (p.Tyr606=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414142]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001474951] |
Chr5:254416 [GRCh38]
Chr5:254531 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1064+7G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001494572] |
Chr5:233652 [GRCh38]
Chr5:233767 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+10C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001481386] |
Chr5:226057 [GRCh38]
Chr5:226172 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1185C>G (p.Val395=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001456990] |
Chr5:235264 [GRCh38]
Chr5:235379 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.13C>A (p.Arg5=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396097]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001464905] |
Chr5:218368 [GRCh38]
Chr5:218483 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1764A>G (p.Ser588=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001481633] |
Chr5:251438 [GRCh38]
Chr5:251553 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1986C>G (p.Arg662=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001492306] |
Chr5:256411 [GRCh38]
Chr5:256526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.306A>T (p.Ala102=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001484330] |
Chr5:224515 [GRCh38]
Chr5:224630 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1902T>G (p.Thr634=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001475201] |
Chr5:254500 [GRCh38]
Chr5:254615 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.9G>C (p.Gly3=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160874]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001462291] |
Chr5:218364 [GRCh38]
Chr5:218479 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-9T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001399597] |
Chr5:236419 [GRCh38]
Chr5:236534 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1323C>G (p.Ala441=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001464722] |
Chr5:236490 [GRCh38]
Chr5:236605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1602A>G (p.Glu534=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001487705] |
Chr5:251042 [GRCh38]
Chr5:251157 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.753C>T (p.Asn251=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396061]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001455157] |
Chr5:228316 [GRCh38]
Chr5:228431 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.39T>C (p.Ala13=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298700]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001417596] |
Chr5:218394 [GRCh38]
Chr5:218509 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1227C>T (p.Asn409=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002377768]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001457627] |
Chr5:235306 [GRCh38]
Chr5:235421 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.792C>T (p.Phe264=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001479819] |
Chr5:230897 [GRCh38]
Chr5:231012 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-7G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001436516] |
Chr5:250985 [GRCh38]
Chr5:251100 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.771-1G>C |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003473911]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001378546] |
Chr5:230875 [GRCh38]
Chr5:230990 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1908+8T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001457829]|SDHA-related condition [RCV003900576] |
Chr5:254514 [GRCh38]
Chr5:254629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1686G>T (p.Leu562=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001475399] |
Chr5:251360 [GRCh38]
Chr5:251475 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.108T>C (p.Thr36=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001399952] |
Chr5:223526 [GRCh38]
Chr5:223641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.540T>C (p.Phe180=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001499962] |
Chr5:225966 [GRCh38]
Chr5:226081 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.729C>T (p.Ser243=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258287]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001492789] |
Chr5:228292 [GRCh38]
Chr5:228407 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.975G>A (p.Arg325=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384787]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001482943] |
Chr5:233556 [GRCh38]
Chr5:233671 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.90C>G (p.Thr30=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001489023] |
Chr5:223508 [GRCh38]
Chr5:223623 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1671C>A (p.Val557=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001472004] |
Chr5:251345 [GRCh38]
Chr5:251460 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432+7G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001475830] |
Chr5:236606 [GRCh38]
Chr5:236721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.303T>G (p.Val101=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298782]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001456082] |
Chr5:224512 [GRCh38]
Chr5:224627 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.770+9C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001506042] |
Chr5:228342 [GRCh38]
Chr5:228457 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.360G>A (p.Arg120=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456824]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001474605] |
Chr5:225466 [GRCh38]
Chr5:225581 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+9G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001487956] |
Chr5:218427 [GRCh38]
Chr5:218542 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1827C>T (p.Pro609=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001398250] |
Chr5:254425 [GRCh38]
Chr5:254540 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.228T>G (p.Ala76=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456692]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001423915] |
Chr5:224437 [GRCh38]
Chr5:224552 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.603G>A (p.Leu201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359087]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001483727] |
Chr5:226029 [GRCh38]
Chr5:226144 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.189T>C (p.Asp63=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414187]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001489795] |
Chr5:224398 [GRCh38]
Chr5:224513 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1341T>C (p.His447=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384814]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001493357] |
Chr5:236508 [GRCh38]
Chr5:236623 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.828C>A (p.Gly276=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001468959] |
Chr5:230933 [GRCh38]
Chr5:231048 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.345G>A (p.Glu115=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460161]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001469188] |
Chr5:225451 [GRCh38]
Chr5:225566 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1086T>C (p.Asp362=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001409209] |
Chr5:235165 [GRCh38]
Chr5:235280 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-10G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001411778] |
Chr5:223472 [GRCh38]
Chr5:223587 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+9C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001400748] |
Chr5:225571 [GRCh38]
Chr5:225686 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001381070] |
Chr5:233611..233612 [GRCh38]
Chr5:233726..233727 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.273C>A (p.Thr91=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001439489] |
Chr5:224482 [GRCh38]
Chr5:224597 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.252G>A (p.Gly84=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456728]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001439510] |
Chr5:224461 [GRCh38]
Chr5:224576 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.124_125dup (p.Ala43fs) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001389282] |
Chr5:223539..223540 [GRCh38]
Chr5:223654..223655 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1909-9C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001443345] |
Chr5:256325 [GRCh38]
Chr5:256440 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-2A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001379214] |
Chr5:225881 [GRCh38]
Chr5:225996 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1320G>A (p.Glu440=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384689]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001446278] |
Chr5:236487 [GRCh38]
Chr5:236602 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.709C>T (p.Leu237=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368256]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001399848] |
Chr5:228272 [GRCh38]
Chr5:228387 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1920A>G (p.Glu640=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413965]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001407237] |
Chr5:256345 [GRCh38]
Chr5:256460 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1860G>A (p.Glu620=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413973]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001409858] |
Chr5:254458 [GRCh38]
Chr5:254573 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.562C>A (p.Arg188=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001437405] |
Chr5:225988 [GRCh38]
Chr5:226103 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1074C>T (p.Gly358=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421015]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001449395]|not provided [RCV001528612] |
Chr5:235153 [GRCh38]
Chr5:235268 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.768A>C (p.Thr256=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001405323] |
Chr5:228331 [GRCh38]
Chr5:228446 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169937]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001378129] |
Chr5:223569 [GRCh38]
Chr5:223684 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.672C>T (p.Leu224=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001426749] |
Chr5:228235 [GRCh38]
Chr5:228350 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.868C>T (p.Leu290=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001430654] |
Chr5:230973 [GRCh38]
Chr5:231088 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1695C>G (p.Thr565=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414062]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001444944] |
Chr5:251369 [GRCh38]
Chr5:251484 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.72A>C (p.Thr24=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001440236] |
Chr5:223490 [GRCh38]
Chr5:223605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.72A>G (p.Thr24=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001445168] |
Chr5:223490 [GRCh38]
Chr5:223605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.454G>T (p.Glu152Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329405]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001383931] |
Chr5:225560 [GRCh38]
Chr5:225675 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.63+8C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001416091] |
Chr5:218426 [GRCh38]
Chr5:218541 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) |
insertion |
Hereditary cancer-predisposing syndrome [RCV002456598]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001381899]|Paragangliomas 5 [RCV003148988]|not provided [RCV003478808] |
Chr5:224451..224452 [GRCh38]
Chr5:224566..224567 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.554dup (p.Ala186fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002350731]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001384161]|not provided [RCV003132489] |
Chr5:225979..225980 [GRCh38]
Chr5:226094..226095 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.150_150+1delinsTA |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001379923] |
Chr5:223568..223569 [GRCh38]
Chr5:223683..223684 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1626C>T (p.Leu542=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405000]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001428428] |
Chr5:251066 [GRCh38]
Chr5:251181 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1842G>A (p.Gln614=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001398650] |
Chr5:254440 [GRCh38]
Chr5:254555 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.597G>T (p.Ser199=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001432038] |
Chr5:226023 [GRCh38]
Chr5:226138 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.168A>G (p.Pro56=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003284327]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001438317] |
Chr5:224377 [GRCh38]
Chr5:224492 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1326C>T (p.Ala442=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384665]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001438344] |
Chr5:236493 [GRCh38]
Chr5:236608 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+7T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001404311] |
Chr5:223575 [GRCh38]
Chr5:223690 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33(chr5:13200-4012072)x1 |
copy number loss |
not provided [RCV001537929] |
Chr5:13200..4012072 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1261-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439151]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001481591] |
Chr5:236424 [GRCh38]
Chr5:236539 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.687G>C (p.Gly229=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001495131] |
Chr5:228250 [GRCh38]
Chr5:228365 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1446T>G (p.Pro482=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388523]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001493756] |
Chr5:240371 [GRCh38]
Chr5:240486 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.771-4C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001479132] |
Chr5:230872 [GRCh38]
Chr5:230987 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1329T>C (p.Cys443=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002384720]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001457888] |
Chr5:236496 [GRCh38]
Chr5:236611 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.276G>A (p.Lys92=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439066]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001451721] |
Chr5:224485 [GRCh38]
Chr5:224600 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.141T>C (p.Val47=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001499538] |
Chr5:223559 [GRCh38]
Chr5:223674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1758G>A (p.Lys586=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001459358] |
Chr5:251432 [GRCh38]
Chr5:251547 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.28C>T (p.Leu10=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001452779] |
Chr5:218383 [GRCh38]
Chr5:218498 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-9dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001470440] |
Chr5:251328..251329 [GRCh38]
Chr5:251443..251444 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.252G>C (p.Gly84=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001463522] |
Chr5:224461 [GRCh38]
Chr5:224576 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.622-7_622-4del |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001456681] |
Chr5:228174..228177 [GRCh38]
Chr5:228289..228292 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1879C>T (p.Leu627=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001460711] |
Chr5:254477 [GRCh38]
Chr5:254592 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.588T>C (p.Thr196=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359034]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001463741]|not provided [RCV003478849] |
Chr5:226014 [GRCh38]
Chr5:226129 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1113A>G (p.Leu371=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001464124] |
Chr5:235192 [GRCh38]
Chr5:235307 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1096C>T (p.Leu366=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001505608] |
Chr5:235175 [GRCh38]
Chr5:235290 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1593G>A (p.Val531=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001489340] |
Chr5:251033 [GRCh38]
Chr5:251148 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.216A>G (p.Ala72=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424934]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001502854] |
Chr5:224425 [GRCh38]
Chr5:224540 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.525A>G (p.Gly175=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001469556] |
Chr5:225951 [GRCh38]
Chr5:226066 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1684C>T (p.Leu562=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001501575] |
Chr5:251358 [GRCh38]
Chr5:251473 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-3del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001518617] |
Chr5:240352 [GRCh38]
Chr5:240467 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.312+7G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001399704] |
Chr5:224528 [GRCh38]
Chr5:224643 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.483C>T (p.Ser161=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001490486] |
Chr5:225909 [GRCh38]
Chr5:226024 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1098G>C (p.Leu366=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170024]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001405764] |
Chr5:235177 [GRCh38]
Chr5:235292 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.768A>T (p.Thr256=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001484481] |
Chr5:228331 [GRCh38]
Chr5:228446 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-6C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001506571] |
Chr5:250986 [GRCh38]
Chr5:251101 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1458A>G (p.Pro486=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001498115] |
Chr5:240383 [GRCh38]
Chr5:240498 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.468T>C (p.Tyr156=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001501940] |
Chr5:225894 [GRCh38]
Chr5:226009 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1914T>C (p.Thr638=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414151]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001476197] |
Chr5:256339 [GRCh38]
Chr5:256454 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1728G>A (p.Leu576=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405090]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001464556] |
Chr5:251402 [GRCh38]
Chr5:251517 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1056A>C (p.Arg352=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003298851]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001482294] |
Chr5:233637 [GRCh38]
Chr5:233752 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-9G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001452964] |
Chr5:250983 [GRCh38]
Chr5:251098 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1371C>A (p.Leu457=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258297]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001512875]|SDHA-related condition [RCV003966078] |
Chr5:236538 [GRCh38]
Chr5:236653 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.1152A>T (p.Ser384=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002350841]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001429506] |
Chr5:235231 [GRCh38]
Chr5:235346 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1755G>A (p.Arg585=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001460934]|SDHA-related condition [RCV003965912] |
Chr5:251429 [GRCh38]
Chr5:251544 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1498A>C (p.Arg500=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003160878]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001462997] |
Chr5:240423 [GRCh38]
Chr5:240538 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1143T>C (p.Pro381=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456774]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001457382] |
Chr5:235222 [GRCh38]
Chr5:235337 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002404895]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001379935] |
Chr5:251336 [GRCh38]
Chr5:251451 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1935C>A (p.Ile645=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414111]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001461792] |
Chr5:256360 [GRCh38]
Chr5:256475 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1104G>A (p.Leu368=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002456674]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001417912] |
Chr5:235183 [GRCh38]
Chr5:235298 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1578C>T (p.Phe526=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001400009] |
Chr5:251018 [GRCh38]
Chr5:251133 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.79C>T (p.Gln27Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002420861]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001385763] |
Chr5:223497 [GRCh38]
Chr5:223612 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1845G>A (p.Lys615=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003355456]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001399841] |
Chr5:254443 [GRCh38]
Chr5:254558 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.147T>C (p.Asp49=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001425772] |
Chr5:223565 [GRCh38]
Chr5:223680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.441C>A (p.Pro147=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001480701] |
Chr5:225547 [GRCh38]
Chr5:225662 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-4T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001418129] |
Chr5:240354 [GRCh38]
Chr5:240469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.630A>T (p.Arg210=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002368310]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001418168] |
Chr5:228193 [GRCh38]
Chr5:228308 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.774C>T (p.Gly258=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001480757] |
Chr5:230879 [GRCh38]
Chr5:230994 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.429G>T (p.Thr143=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001503986] |
Chr5:225535 [GRCh38]
Chr5:225650 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1014G>T (p.Ala338=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161005]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001499559] |
Chr5:233595 [GRCh38]
Chr5:233710 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1506T>C (p.Ala502=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388562]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001505748] |
Chr5:240431 [GRCh38]
Chr5:240546 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.778G>C (p.Gly260Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413906]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001377775]|Neurodegeneration with ataxia and late-onset optic atrophy [RCV001836652] |
Chr5:230883 [GRCh38]
Chr5:230998 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.397C>G (p.Leu133Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259255]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003094257] |
Chr5:225503 [GRCh38]
Chr5:225618 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1985G>A (p.Arg662His) |
single nucleotide variant |
not provided [RCV001755350] |
Chr5:256410 [GRCh38]
Chr5:256525 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1337T>C (p.Val446Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258625]|Pulmonary artery atresia [RCV002512178] |
Chr5:236504 [GRCh38]
Chr5:236619 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1075_1078del (p.Pro359fs) |
deletion |
not provided [RCV001784951] |
Chr5:235154..235157 [GRCh38]
Chr5:235269..235272 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.770G>C (p.Gly257Ala) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799815]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001885198] |
Chr5:228333 [GRCh38]
Chr5:228448 [GRCh37]
Chr5:5p15.33 |
pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1842G>C (p.Gln614His) |
single nucleotide variant |
not provided [RCV001768014] |
Chr5:254440 [GRCh38]
Chr5:254555 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329741]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003772086]|not provided [RCV001767998] |
Chr5:235250 [GRCh38]
Chr5:235365 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.934C>T (p.Arg312Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370309]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001885098]|not provided [RCV001768271] |
Chr5:233515 [GRCh38]
Chr5:233630 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+3G>C |
single nucleotide variant |
not provided [RCV001757414] |
Chr5:218421 [GRCh38]
Chr5:218536 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312+20C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002077205]|not provided [RCV003238458] |
Chr5:224541 [GRCh38]
Chr5:224656 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.526C>T (p.Gln176Ter) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799813]|Hereditary cancer-predisposing syndrome [RCV002343850] |
Chr5:225952 [GRCh38]
Chr5:226067 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1690G>A (p.Glu564Lys) |
single nucleotide variant |
Gastrointestinal stromal tumor [RCV001799814] |
Chr5:251364 [GRCh38]
Chr5:251479 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+6G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001982649] |
Chr5:235345 [GRCh38]
Chr5:235460 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001963848] |
Chr5:235274 [GRCh38]
Chr5:235389 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.112G>A (p.Asp38Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001929371] |
Chr5:223530 [GRCh38]
Chr5:223645 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.133G>C (p.Ala45Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386843]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001971036] |
Chr5:223551 [GRCh38]
Chr5:223666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.488C>A (p.Thr163Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001970693] |
Chr5:225914 [GRCh38]
Chr5:226029 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.16G>C (p.Gly6Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397867]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001893473] |
Chr5:218371 [GRCh38]
Chr5:218486 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002024752]|Paragangliomas 5 [RCV002291797] |
Chr5:225512 [GRCh38]
Chr5:225627 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.439C>T (p.Pro147Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002025413] |
Chr5:225545 [GRCh38]
Chr5:225660 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.896-5T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001915553] |
Chr5:233472 [GRCh38]
Chr5:233587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.397C>T (p.Leu133=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001914418] |
Chr5:225503 [GRCh38]
Chr5:225618 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.509A>T (p.Gln170Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002008912] |
Chr5:225935 [GRCh38]
Chr5:226050 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001988310] |
Chr5:251081 [GRCh38]
Chr5:251196 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001969975] |
Chr5:240393..240394 [GRCh38]
Chr5:240508..240509 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1664-20G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001970882] |
Chr5:251318 [GRCh38]
Chr5:251433 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1433-5T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002004228] |
Chr5:240353 [GRCh38]
Chr5:240468 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001915420]|SDHA-related condition [RCV003407918] |
Chr5:233636 [GRCh38]
Chr5:233751 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001864447] |
Chr5:251026 [GRCh38]
Chr5:251141 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001971299] |
Chr5:236491 [GRCh38]
Chr5:236606 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.484A>G (p.Arg162Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001986425] |
Chr5:225910 [GRCh38]
Chr5:226025 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002002449] |
Chr5:251416..251417 [GRCh38]
Chr5:251531..251532 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001983803] |
Chr5:251395 [GRCh38]
Chr5:251510 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1339C>T (p.His447Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001914544] |
Chr5:236506 [GRCh38]
Chr5:236621 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001969208] |
Chr5:251407 [GRCh38]
Chr5:251522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1204G>C (p.Val402Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344046]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001914109] |
Chr5:235283 [GRCh38]
Chr5:235398 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_218471)_(1895829_?)del |
deletion |
Parkinsonism-dystonia, infantile [RCV003120784] |
Chr5:218471..1895829 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.275A>G (p.Lys92Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002024507] |
Chr5:224484 [GRCh38]
Chr5:224599 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113577-2276310)x1 |
copy number loss |
not provided [RCV001834250] |
Chr5:113577..2276310 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+5G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001987657] |
Chr5:254511 [GRCh38]
Chr5:254626 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-9_151-7del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001929708] |
Chr5:224349..224351 [GRCh38]
Chr5:224464..224466 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.62C>A (p.Ala21Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002005224] |
Chr5:218417 [GRCh38]
Chr5:218532 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001968186] |
Chr5:251103 [GRCh38]
Chr5:251218 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.227C>T (p.Ala76Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001984674] |
Chr5:224436 [GRCh38]
Chr5:224551 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1108C>T (p.His370Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002021688] |
Chr5:235187 [GRCh38]
Chr5:235302 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.48G>A (p.Leu16=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002040196] |
Chr5:218403 [GRCh38]
Chr5:218518 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.974G>T (p.Arg325Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386896]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002006610] |
Chr5:233555 [GRCh38]
Chr5:233670 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1459A>C (p.Asn487His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002388998]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001983493] |
Chr5:240384 [GRCh38]
Chr5:240499 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.*12GTG[1] |
microsatellite |
not provided [RCV001847395] |
Chr5:256432..256434 [GRCh38]
Chr5:256547..256549 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1245dup (p.Asn416fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001893983] |
Chr5:235322..235323 [GRCh38]
Chr5:235437..235438 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.683A>G (p.Asn228Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256852]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001894346] |
Chr5:228246 [GRCh38]
Chr5:228361 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.741A>G (p.Ile247Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164197]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001870866] |
Chr5:228304 [GRCh38]
Chr5:228419 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.88A>G (p.Thr30Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002040499] |
Chr5:223506 [GRCh38]
Chr5:223621 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.65G>A (p.Trp22Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001946937] |
Chr5:223483 [GRCh38]
Chr5:223598 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002022191] |
Chr5:235221..235222 [GRCh38]
Chr5:235336..235337 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1105C>T (p.His369Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002425349]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002002578] |
Chr5:235184 [GRCh38]
Chr5:235299 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.598C>A (p.Leu200Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475179]|Hereditary cancer-predisposing syndrome [RCV003167297]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001945888] |
Chr5:226024 [GRCh38]
Chr5:226139 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397928]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001945900] |
Chr5:251071 [GRCh38]
Chr5:251186 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001908935] |
Chr5:228245 [GRCh38]
Chr5:228360 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002042621] |
Chr5:256338 [GRCh38]
Chr5:256453 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-5T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002042725] |
Chr5:256329 [GRCh38]
Chr5:256444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln) |
indel |
Hereditary cancer-predisposing syndrome [RCV002359349]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001890610] |
Chr5:226045..226046 [GRCh38]
Chr5:226160..226161 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.74T>C (p.Val25Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001965794] |
Chr5:223492 [GRCh38]
Chr5:223607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.568T>A (p.Cys190Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002023582] |
Chr5:225994 [GRCh38]
Chr5:226109 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+17T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001965963] |
Chr5:225579 [GRCh38]
Chr5:225694 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1163T>C (p.Met388Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001983131] |
Chr5:235242 [GRCh38]
Chr5:235357 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475115]|Hereditary cancer-predisposing syndrome [RCV002397778]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002042300] |
Chr5:251018 [GRCh38]
Chr5:251133 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001895333] |
Chr5:236471 [GRCh38]
Chr5:236586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.715A>T (p.Ile239Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001872132] |
Chr5:228278 [GRCh38]
Chr5:228393 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.23C>T (p.Ser8Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339859]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001970237] |
Chr5:218378 [GRCh38]
Chr5:218493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1890G>A (p.Val630=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002004245] |
Chr5:254488 [GRCh38]
Chr5:254603 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:150264-362735)x3 |
copy number gain |
not provided [RCV001834485] |
Chr5:150264..362735 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 |
copy number loss |
not provided [RCV001827855] |
Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_004168.4(SDHA):c.169G>A (p.Val57Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002044372] |
Chr5:224378 [GRCh38]
Chr5:224493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065A>G (p.Arg355=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002004361] |
Chr5:235144 [GRCh38]
Chr5:235259 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.859T>A (p.Cys287Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001908455] |
Chr5:230964 [GRCh38]
Chr5:231079 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001945858]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002491952] |
Chr5:240408 [GRCh38]
Chr5:240523 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.950T>C (p.Ile317Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002005616] |
Chr5:233531 [GRCh38]
Chr5:233646 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.442G>T (p.Ala148Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001895502] |
Chr5:225548 [GRCh38]
Chr5:225663 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.508C>A (p.Gln170Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002023950] |
Chr5:225934 [GRCh38]
Chr5:226049 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.268G>A (p.Val90Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001873104] |
Chr5:224477 [GRCh38]
Chr5:224592 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:194236-306683)x1 |
copy number loss |
not provided [RCV001834527] |
Chr5:194236..306683 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001984856] |
Chr5:251073 [GRCh38]
Chr5:251188 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001890957] |
Chr5:240373 [GRCh38]
Chr5:240488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002005698] |
Chr5:224373 [GRCh38]
Chr5:224488 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398121]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002043820] |
Chr5:251407 [GRCh38]
Chr5:251522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+5G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001912401] |
Chr5:240481 [GRCh38]
Chr5:240596 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.589G>A (p.Gly197Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001909660] |
Chr5:226015 [GRCh38]
Chr5:226130 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-3_1552-2del |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002005047] |
Chr5:250987..250988 [GRCh38]
Chr5:251102..251103 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001965962] |
Chr5:256385..256386 [GRCh38]
Chr5:256500..256501 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.420C>G (p.His140Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001965053] |
Chr5:225526 [GRCh38]
Chr5:225641 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.472A>G (p.Met158Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382693]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001891357] |
Chr5:225898 [GRCh38]
Chr5:226013 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064+1G>A |
single nucleotide variant |
not provided [RCV002051596] |
Chr5:233646 [GRCh38]
Chr5:233761 [GRCh37]
Chr5:5p15.33 |
not provided |
| NM_004168.4(SDHA):c.456+18C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001890819] |
Chr5:225580 [GRCh38]
Chr5:225695 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1551G>A (p.Lys517=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398097]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001999666] |
Chr5:240476 [GRCh38]
Chr5:240591 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001924318] |
Chr5:250998 [GRCh38]
Chr5:251113 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.934_936del (p.Arg312del) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001999182] |
Chr5:233513..233515 [GRCh38]
Chr5:233628..233630 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.250G>A (p.Gly84Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001982263] |
Chr5:224459 [GRCh38]
Chr5:224574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001963325] |
Chr5:235224 [GRCh38]
Chr5:235339 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.313G>A (p.Gly105Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001980030] |
Chr5:225419 [GRCh38]
Chr5:225534 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.3G>C (p.Met1Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001962939] |
Chr5:218358 [GRCh38]
Chr5:218473 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1432+1G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002037154] |
Chr5:236600 [GRCh38]
Chr5:236715 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.166C>A (p.Pro56Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475261]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001963393] |
Chr5:224375 [GRCh38]
Chr5:224490 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.4T>G (p.Ser2Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001902064] |
Chr5:218359 [GRCh38]
Chr5:218474 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.62C>T (p.Ala21Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001884830] |
Chr5:218417 [GRCh38]
Chr5:218532 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.313-11G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001888701] |
Chr5:225408 [GRCh38]
Chr5:225523 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002010926] |
Chr5:240370 [GRCh38]
Chr5:240485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.766A>T (p.Thr256Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002047351] |
Chr5:228329 [GRCh38]
Chr5:228444 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.392A>G (p.Asp131Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001902435] |
Chr5:225498 [GRCh38]
Chr5:225613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.737G>T (p.Arg246Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002000580] |
Chr5:228300 [GRCh38]
Chr5:228415 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1111C>G (p.Leu371Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001963487] |
Chr5:235190 [GRCh38]
Chr5:235305 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002035714] |
Chr5:235319 [GRCh38]
Chr5:235434 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.353A>G (p.Asn118Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167192]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001935816] |
Chr5:225459 [GRCh38]
Chr5:225574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002361297]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002037896] |
Chr5:228196 [GRCh38]
Chr5:228311 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.973A>T (p.Arg325Trp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001991877] |
Chr5:233554 [GRCh38]
Chr5:233669 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.621G>A (p.Arg207=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001906920] |
Chr5:226047 [GRCh38]
Chr5:226162 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.896-10T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001877059] |
Chr5:233467 [GRCh38]
Chr5:233582 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.793A>T (p.Ser265Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002027846] |
Chr5:230898 [GRCh38]
Chr5:231013 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1284G>C (p.Gln428His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001961029] |
Chr5:236451 [GRCh38]
Chr5:236566 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002046505] |
Chr5:235182 [GRCh38]
Chr5:235297 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001963665]|not provided [RCV002224126] |
Chr5:233593 [GRCh38]
Chr5:233708 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386828]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001956896] |
Chr5:236485 [GRCh38]
Chr5:236600 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001978486] |
Chr5:236587 [GRCh38]
Chr5:236702 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.482G>A (p.Ser161Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001992127] |
Chr5:225908 [GRCh38]
Chr5:226023 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002010167] |
Chr5:233586 [GRCh38]
Chr5:233701 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001897788] |
Chr5:235310 [GRCh38]
Chr5:235425 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.370T>C (p.Tyr124His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001936982] |
Chr5:225476 [GRCh38]
Chr5:225591 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.29T>C (p.Leu10Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001901686] |
Chr5:218384 [GRCh38]
Chr5:218499 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001956414] |
Chr5:251096..251099 [GRCh38]
Chr5:251211..251214 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001899234] |
Chr5:240390 [GRCh38]
Chr5:240505 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.83C>T (p.Thr28Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001935291] |
Chr5:223501 [GRCh38]
Chr5:223616 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001921863] |
Chr5:225531..225532 [GRCh38]
Chr5:225646..225647 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170518]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002013131] |
Chr5:233642 [GRCh38]
Chr5:233757 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.4T>C (p.Ser2Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001954520] |
Chr5:218359 [GRCh38]
Chr5:218474 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.697G>A (p.Gly233Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170418]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001976993] |
Chr5:228260 [GRCh38]
Chr5:228375 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.612A>G (p.Leu204=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001864725] |
Chr5:226038 [GRCh38]
Chr5:226153 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002009555] |
Chr5:251443 [GRCh38]
Chr5:251558 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-9C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001952261] |
Chr5:224351 [GRCh38]
Chr5:224466 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001900975] |
Chr5:236584 [GRCh38]
Chr5:236699 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.840C>G (p.Ile280Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001899746] |
Chr5:230945 [GRCh38]
Chr5:231060 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.257A>G (p.Asn86Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001866664] |
Chr5:224466 [GRCh38]
Chr5:224581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001878075] |
Chr5:236467 [GRCh38]
Chr5:236582 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_218471)_(1816030_?)del |
deletion |
not provided [RCV001915899] |
Chr5:218471..1816030 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397912]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001935549] |
Chr5:251460 [GRCh38]
Chr5:251575 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.698G>A (p.Gly233Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001991733] |
Chr5:228261 [GRCh38]
Chr5:228376 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.541G>C (p.Gly181Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170333]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002009805] |
Chr5:225967 [GRCh38]
Chr5:226082 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.386G>A (p.Gly129Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001899967] |
Chr5:225492 [GRCh38]
Chr5:225607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.713G>C (p.Cys238Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002030218] |
Chr5:228276 [GRCh38]
Chr5:228391 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423281]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002027753] |
Chr5:256378 [GRCh38]
Chr5:256493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1764dup (p.Arg589fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001917391] |
Chr5:251437..251438 [GRCh38]
Chr5:251552..251553 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001930654] |
Chr5:230893 [GRCh38]
Chr5:231008 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.64T>C (p.Trp22Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002033210] |
Chr5:223482 [GRCh38]
Chr5:223597 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.176A>G (p.Asp59Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397910]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001921055] |
Chr5:224385 [GRCh38]
Chr5:224500 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.674T>C (p.Leu225Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001995465] |
Chr5:228237 [GRCh38]
Chr5:228352 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001990756] |
Chr5:236494 [GRCh38]
Chr5:236609 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1276A>C (p.Asn426His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001901493] |
Chr5:236443 [GRCh38]
Chr5:236558 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001996416] |
Chr5:254414 [GRCh38]
Chr5:254529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397920]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001926240] |
Chr5:251464 [GRCh38]
Chr5:251579 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.349G>A (p.Asp117Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002028208] |
Chr5:225455 [GRCh38]
Chr5:225570 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001899180] |
Chr5:251428..251432 [GRCh38]
Chr5:251543..251547 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.767C>T (p.Thr256Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001976578] |
Chr5:228330 [GRCh38]
Chr5:228445 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.263C>T (p.Ala88Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001997624] |
Chr5:224472 [GRCh38]
Chr5:224587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312+5G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001991159] |
Chr5:224526 [GRCh38]
Chr5:224641 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.895+1del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001995700]|Paragangliomas 5 [RCV003453916] |
Chr5:231000 [GRCh38]
Chr5:231115 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.337A>G (p.Asn113Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303527]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001972890] |
Chr5:225443 [GRCh38]
Chr5:225558 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.433C>G (p.Gln145Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331590]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002028300] |
Chr5:225539 [GRCh38]
Chr5:225654 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001992540] |
Chr5:225893 [GRCh38]
Chr5:226008 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.991G>T (p.Ala331Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001936106] |
Chr5:233572 [GRCh38]
Chr5:233687 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.982G>C (p.Glu328Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001956772] |
Chr5:233563 [GRCh38]
Chr5:233678 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001989991] |
Chr5:225448..225450 [GRCh38]
Chr5:225563..225565 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1555A>G (p.Met519Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398040]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001974203] |
Chr5:250995 [GRCh38]
Chr5:251110 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312+15C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002013200] |
Chr5:224536 [GRCh38]
Chr5:224651 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.411T>G (p.Asp137Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475267]|Hereditary cancer-predisposing syndrome [RCV002324437]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001993997] |
Chr5:225517 [GRCh38]
Chr5:225632 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.716T>C (p.Ile239Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001982370]|not provided [RCV003434368] |
Chr5:228279 [GRCh38]
Chr5:228394 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003289124]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001866324] |
Chr5:236452 [GRCh38]
Chr5:236567 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002048420] |
Chr5:235215 [GRCh38]
Chr5:235330 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.298_299del (p.Thr100fs) |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV002256871]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001958646] |
Chr5:224502..224503 [GRCh38]
Chr5:224617..224618 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303421]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001921775] |
Chr5:251365 [GRCh38]
Chr5:251480 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001917056] |
Chr5:235322 [GRCh38]
Chr5:235437 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.322_323del (p.Asn108fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002259153]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001931700] |
Chr5:225428..225429 [GRCh38]
Chr5:225543..225544 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1711C>G (p.Leu571Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397908]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001932947] |
Chr5:251385 [GRCh38]
Chr5:251500 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064+2T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002048798] |
Chr5:233647 [GRCh38]
Chr5:233762 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001897289] |
Chr5:240442 [GRCh38]
Chr5:240557 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.56C>G (p.Ala19Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002030327] |
Chr5:218411 [GRCh38]
Chr5:218526 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397988]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001981564] |
Chr5:251068 [GRCh38]
Chr5:251183 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.215C>T (p.Ala72Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001885549] |
Chr5:224424 [GRCh38]
Chr5:224539 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001976281] |
Chr5:235320..235322 [GRCh38]
Chr5:235435..235437 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1794+5G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001979288] |
Chr5:251473 [GRCh38]
Chr5:251588 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.980T>C (p.Met327Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001884283] |
Chr5:233561 [GRCh38]
Chr5:233676 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.173T>G (p.Val58Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397842]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001905645] |
Chr5:224382 [GRCh38]
Chr5:224497 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1027G>C (p.Val343Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001923192] |
Chr5:233608 [GRCh38]
Chr5:233723 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001932270] |
Chr5:236594 [GRCh38]
Chr5:236709 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001931110] |
Chr5:235238 [GRCh38]
Chr5:235353 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.700G>A (p.Val234Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001952662] |
Chr5:228263 [GRCh38]
Chr5:228378 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001975339] |
Chr5:256397 [GRCh38]
Chr5:256512 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-16A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001921073] |
Chr5:250976 [GRCh38]
Chr5:251091 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+1G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002018663] |
Chr5:224522 [GRCh38]
Chr5:224637 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.917T>C (p.Leu306Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001981723] |
Chr5:233498 [GRCh38]
Chr5:233613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.583C>G (p.Arg195Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002018269] |
Chr5:226009 [GRCh38]
Chr5:226124 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.557C>T (p.Ala186Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346254]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001981081] |
Chr5:225983 [GRCh38]
Chr5:226098 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002019630] |
Chr5:233639 [GRCh38]
Chr5:233754 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1943del (p.Thr648fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001961342] |
Chr5:256368 [GRCh38]
Chr5:256483 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1684C>G (p.Leu562Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407197]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001997685] |
Chr5:251358 [GRCh38]
Chr5:251473 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312G>A (p.Gln104=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382703]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001939725] |
Chr5:224521 [GRCh38]
Chr5:224636 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.941A>C (p.Glu314Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370556]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001959898] |
Chr5:233522 [GRCh38]
Chr5:233637 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.9:g.(?_218471)_(1816030_?)dup |
duplication |
Parkinsonism-dystonia, infantile [RCV001939977]|not provided [RCV001939976] |
Chr5:218471..1816030 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1162A>T (p.Met388Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339852]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001981606] |
Chr5:235241 [GRCh38]
Chr5:235356 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.209G>C (p.Gly70Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002036381] |
Chr5:224418 [GRCh38]
Chr5:224533 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1664-5C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001905768] |
Chr5:251333 [GRCh38]
Chr5:251448 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1442T>G (p.Val481Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001959617] |
Chr5:240367 [GRCh38]
Chr5:240482 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.467dup (p.Tyr156Ter) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001877276] |
Chr5:225892..225893 [GRCh38]
Chr5:226007..226008 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.251G>A (p.Gly84Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001877331] |
Chr5:224460 [GRCh38]
Chr5:224575 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.515C>T (p.Ala172Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001933975] |
Chr5:225941 [GRCh38]
Chr5:226056 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001864744] |
Chr5:233605..233607 [GRCh38]
Chr5:233720..233722 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.571T>C (p.Cys191Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001972911] |
Chr5:225997 [GRCh38]
Chr5:226112 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.839T>A (p.Ile280Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441074]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001974588] |
Chr5:230944 [GRCh38]
Chr5:231059 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1024G>C (p.Val342Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001864880] |
Chr5:233605 [GRCh38]
Chr5:233720 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.875T>G (p.Phe292Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002029830] |
Chr5:230980 [GRCh38]
Chr5:231095 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.278T>C (p.Leu93Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001904024] |
Chr5:224487 [GRCh38]
Chr5:224602 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167128]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001930243] |
Chr5:218358 [GRCh38]
Chr5:218473 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001902838] |
Chr5:230970 [GRCh38]
Chr5:231085 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386771]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001957990] |
Chr5:236471 [GRCh38]
Chr5:236586 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003382786]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002012421] |
Chr5:240432 [GRCh38]
Chr5:240547 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.979A>G (p.Met327Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372823]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002031597] |
Chr5:233560 [GRCh38]
Chr5:233675 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.447del (p.Val150fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001956560] |
Chr5:225552 [GRCh38]
Chr5:225667 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.64-11T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001994610] |
Chr5:223471 [GRCh38]
Chr5:223586 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1035del (p.Ser346fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001935112] |
Chr5:233615 [GRCh38]
Chr5:233730 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.608C>G (p.Thr203Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001879242] |
Chr5:226034 [GRCh38]
Chr5:226149 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.907G>T (p.Ala303Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370603]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001993004] |
Chr5:233488 [GRCh38]
Chr5:233603 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.338A>C (p.Asn113Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001876644] |
Chr5:225444 [GRCh38]
Chr5:225559 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386906]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002017046] |
Chr5:235319 [GRCh38]
Chr5:235434 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.262G>A (p.Ala88Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002046360] |
Chr5:224471 [GRCh38]
Chr5:224586 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.392_396dup (p.Leu133fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001866474] |
Chr5:225496..225497 [GRCh38]
Chr5:225611..225612 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.668A>C (p.Asp223Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164013]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002030099] |
Chr5:228231 [GRCh38]
Chr5:228346 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.478T>C (p.Phe160Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001921634] |
Chr5:225904 [GRCh38]
Chr5:226019 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.23C>A (p.Ser8Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303493]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001993135] |
Chr5:218378 [GRCh38]
Chr5:218493 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001993894] |
Chr5:236557 [GRCh38]
Chr5:236672 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1568C>T (p.Ala523Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002397907]|Mitochondrial complex II deficiency, nuclear type 1 [RCV001920893] |
Chr5:251008 [GRCh38]
Chr5:251123 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1668G>A (p.Met556Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001979645] |
Chr5:251342 [GRCh38]
Chr5:251457 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.882G>T (p.Gln294His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV001935495] |
Chr5:230987 [GRCh38]
Chr5:231102 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.359G>A (p.Arg120Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002033777] |
Chr5:225465 [GRCh38]
Chr5:225580 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1794+20C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002165965] |
Chr5:251488 [GRCh38]
Chr5:251603 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+17C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002166528] |
Chr5:235356 [GRCh38]
Chr5:235471 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.96T>C (p.Gly32=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002372846]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002167795] |
Chr5:223514 [GRCh38]
Chr5:223629 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1116T>G (p.Pro372=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434474]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002088573] |
Chr5:235195 [GRCh38]
Chr5:235310 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.663C>G (p.Ala221=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002207092] |
Chr5:228226 [GRCh38]
Chr5:228341 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.936T>G (p.Arg312=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002207096] |
Chr5:233517 [GRCh38]
Chr5:233632 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1064+5GT[3] |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002205860] |
Chr5:233649..233650 [GRCh38]
Chr5:233764..233765 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1617C>T (p.Ile539=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003303731]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002208831] |
Chr5:251057 [GRCh38]
Chr5:251172 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-12T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002147170] |
Chr5:250980 [GRCh38]
Chr5:251095 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-17G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002084808] |
Chr5:235127 [GRCh38]
Chr5:235242 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1663+17C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002165500] |
Chr5:251120 [GRCh38]
Chr5:251235 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.444C>G (p.Ala148=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002331674]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002170235] |
Chr5:225550 [GRCh38]
Chr5:225665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.559del (p.His187fs) |
deletion |
not provided [RCV002224741] |
Chr5:225983 [GRCh38]
Chr5:226098 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.621+19A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002167508] |
Chr5:226066 [GRCh38]
Chr5:226181 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+10C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002167539] |
Chr5:235349 [GRCh38]
Chr5:235464 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+16C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002106459] |
Chr5:225578 [GRCh38]
Chr5:225693 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258395]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003101271]|not provided [RCV002223477] |
Chr5:225528 [GRCh38]
Chr5:225643 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1433-8T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002207740] |
Chr5:240350 [GRCh38]
Chr5:240465 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.81A>G (p.Gln27=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002427696]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002129162] |
Chr5:223499 [GRCh38]
Chr5:223614 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+7G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002071416] |
Chr5:224528 [GRCh38]
Chr5:224643 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1881G>C (p.Leu627=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407392]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002075064] |
Chr5:254479 [GRCh38]
Chr5:254594 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-19G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002108542] |
Chr5:223463 [GRCh38]
Chr5:223578 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1053C>A (p.Ile351=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398153]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002170126] |
Chr5:233634 [GRCh38]
Chr5:233749 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.633T>C (p.Tyr211=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002361434]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002167974] |
Chr5:228196 [GRCh38]
Chr5:228311 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1194G>A (p.Glu398=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339921]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002086013] |
Chr5:235273 [GRCh38]
Chr5:235388 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.237C>T (p.Gly79=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002185961] |
Chr5:224446 [GRCh38]
Chr5:224561 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-14T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002185104] |
Chr5:240344 [GRCh38]
Chr5:240459 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432+12C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002165760] |
Chr5:236611 [GRCh38]
Chr5:236726 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1725G>T (p.Ala575=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398186]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002205101] |
Chr5:251399 [GRCh38]
Chr5:251514 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+15T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002169045] |
Chr5:223583 [GRCh38]
Chr5:223698 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1531C>T (p.Leu511=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003161582]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002109158] |
Chr5:240456 [GRCh38]
Chr5:240571 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-14T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002145985] |
Chr5:240344 [GRCh38]
Chr5:240459 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+14C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002129016] |
Chr5:251482 [GRCh38]
Chr5:251597 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.963T>C (p.Ser321=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002089432]|not provided [RCV003434384] |
Chr5:233544 [GRCh38]
Chr5:233659 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.240T>C (p.Leu80=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454568]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002190922] |
Chr5:224449 [GRCh38]
Chr5:224564 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+17G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002086990] |
Chr5:240493 [GRCh38]
Chr5:240608 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+14G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002088131] |
Chr5:218432 [GRCh38]
Chr5:218547 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-11C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002168540] |
Chr5:236417 [GRCh38]
Chr5:236532 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1909-15A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002187315] |
Chr5:256319 [GRCh38]
Chr5:256434 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+18C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002074489] |
Chr5:226065 [GRCh38]
Chr5:226180 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-16T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002091923] |
Chr5:225867 [GRCh38]
Chr5:225982 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1663+20T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002145150] |
Chr5:251123 [GRCh38]
Chr5:251238 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+12C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002167536] |
Chr5:223580 [GRCh38]
Chr5:223695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.774C>A (p.Gly258=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002208173] |
Chr5:230879 [GRCh38]
Chr5:230994 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+17C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002145321] |
Chr5:224538 [GRCh38]
Chr5:224653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.198G>A (p.Val66=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423319]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002190412] |
Chr5:224407 [GRCh38]
Chr5:224522 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.896-5del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002132498] |
Chr5:233467 [GRCh38]
Chr5:233582 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.64-12C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002215344] |
Chr5:223470 [GRCh38]
Chr5:223585 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-20A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002117217] |
Chr5:250972 [GRCh38]
Chr5:251087 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1770C>G (p.Gly590=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002216389] |
Chr5:251444 [GRCh38]
Chr5:251559 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-11del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002127371] |
Chr5:251323 [GRCh38]
Chr5:251438 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1278T>C (p.Asn426=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002089352] |
Chr5:236445 [GRCh38]
Chr5:236560 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1509T>C (p.Asp503=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002134949] |
Chr5:240434 [GRCh38]
Chr5:240549 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-18_457-3dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002092961] |
Chr5:225864..225865 [GRCh38]
Chr5:225979..225980 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1264C>T (p.Leu422=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443235]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002131104] |
Chr5:236431 [GRCh38]
Chr5:236546 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-13T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002195305] |
Chr5:223469 [GRCh38]
Chr5:223584 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1884C>T (p.Ser628=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002133046] |
Chr5:254482 [GRCh38]
Chr5:254597 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+19C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002112501] |
Chr5:235358 [GRCh38]
Chr5:235473 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-10G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002165832] |
Chr5:251328 [GRCh38]
Chr5:251443 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+17C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002116772] |
Chr5:235356 [GRCh38]
Chr5:235471 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.313-18A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002170413] |
Chr5:225401 [GRCh38]
Chr5:225516 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.771-4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398234]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002113214] |
Chr5:230872 [GRCh38]
Chr5:230987 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.261A>G (p.Thr87=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002107921] |
Chr5:224470 [GRCh38]
Chr5:224585 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+18A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002213285] |
Chr5:218436 [GRCh38]
Chr5:218551 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+15G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002194891] |
Chr5:225577 [GRCh38]
Chr5:225692 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+20C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002171169] |
Chr5:235359 [GRCh38]
Chr5:235474 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432+9_1432+11del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002116679] |
Chr5:236607..236609 [GRCh38]
Chr5:236722..236724 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.15G>A (p.Arg5=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002190206] |
Chr5:218370 [GRCh38]
Chr5:218485 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.33G>T (p.Leu11=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454347]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002169794] |
Chr5:218388 [GRCh38]
Chr5:218503 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+17C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002195398] |
Chr5:226064 [GRCh38]
Chr5:226179 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1263C>T (p.Val421=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002443236]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002131230] |
Chr5:236430 [GRCh38]
Chr5:236545 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.708A>G (p.Ala236=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002171005] |
Chr5:228271 [GRCh38]
Chr5:228386 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1689G>A (p.Val563=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407328]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002077620] |
Chr5:251363 [GRCh38]
Chr5:251478 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-19G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002114007] |
Chr5:251319 [GRCh38]
Chr5:251434 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.702C>T (p.Val234=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002097689] |
Chr5:228265 [GRCh38]
Chr5:228380 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-19T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002105310] |
Chr5:235125 [GRCh38]
Chr5:235240 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432+18G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002170141] |
Chr5:236617 [GRCh38]
Chr5:236732 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1257G>T (p.Gly419=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423351]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002095586] |
Chr5:235336 [GRCh38]
Chr5:235451 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1221T>C (p.His407=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002175136] |
Chr5:235300 [GRCh38]
Chr5:235415 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432+7G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002135293] |
Chr5:236606 [GRCh38]
Chr5:236721 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+16G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002170220] |
Chr5:218434 [GRCh38]
Chr5:218549 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.151-20G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002095591] |
Chr5:224340 [GRCh38]
Chr5:224455 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-13T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002081115] |
Chr5:250979 [GRCh38]
Chr5:251094 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-10G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002145621] |
Chr5:235134 [GRCh38]
Chr5:235249 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-16T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002089356] |
Chr5:235128 [GRCh38]
Chr5:235243 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+16C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002168426] |
Chr5:235355 [GRCh38]
Chr5:235470 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+18C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002080673] |
Chr5:240494 [GRCh38]
Chr5:240609 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-18T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002093037] |
Chr5:250974 [GRCh38]
Chr5:251089 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+12C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002095492] |
Chr5:223580 [GRCh38]
Chr5:223695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.420C>T (p.His140=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002072839] |
Chr5:225526 [GRCh38]
Chr5:225641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-11T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002172332] |
Chr5:240347 [GRCh38]
Chr5:240462 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.770+7A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002126413] |
Chr5:228340 [GRCh38]
Chr5:228455 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1663+19C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002092873] |
Chr5:251122 [GRCh38]
Chr5:251237 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1909-16_1909-13del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002076539] |
Chr5:256315..256318 [GRCh38]
Chr5:256430..256433 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+15G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002196836] |
Chr5:226062 [GRCh38]
Chr5:226177 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+17dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002124620] |
Chr5:223580..223581 [GRCh38]
Chr5:223695..223696 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.27G>A (p.Arg9=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434494]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002112961] |
Chr5:218382 [GRCh38]
Chr5:218497 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+20C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002095679] |
Chr5:224541 [GRCh38]
Chr5:224656 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1548G>A (p.Gln516=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002149706] |
Chr5:240473 [GRCh38]
Chr5:240588 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-16A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002149782] |
Chr5:236412 [GRCh38]
Chr5:236527 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-19T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002213576] |
Chr5:240339 [GRCh38]
Chr5:240454 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.195G>A (p.Val65=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002097082] |
Chr5:224404 [GRCh38]
Chr5:224519 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-20A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002172712] |
Chr5:250972 [GRCh38]
Chr5:251087 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-7T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002075869] |
Chr5:235137 [GRCh38]
Chr5:235252 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.738C>T (p.Arg246=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002386947]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002092454] |
Chr5:228301 [GRCh38]
Chr5:228416 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.151-20G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002218006] |
Chr5:224340 [GRCh38]
Chr5:224455 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+9C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002136967] |
Chr5:240485 [GRCh38]
Chr5:240600 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1479C>T (p.Val493=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391333]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002155982] |
Chr5:240404 [GRCh38]
Chr5:240519 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432+15C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002201621] |
Chr5:236614 [GRCh38]
Chr5:236729 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1909-11T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002177144] |
Chr5:256323 [GRCh38]
Chr5:256438 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+11G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002157950] |
Chr5:224532 [GRCh38]
Chr5:224647 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-12del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002156198] |
Chr5:225867 [GRCh38]
Chr5:225982 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.75G>A (p.Val25=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391170]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002178106] |
Chr5:223493 [GRCh38]
Chr5:223608 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1791C>T (p.Tyr597=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002103020] |
Chr5:251465 [GRCh38]
Chr5:251580 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+18G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002182070] |
Chr5:251486 [GRCh38]
Chr5:251601 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1371C>G (p.Leu457=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002142112] |
Chr5:236538 [GRCh38]
Chr5:236653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.786C>T (p.Thr262=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409534]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002155622] |
Chr5:230891 [GRCh38]
Chr5:231006 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1134G>C (p.Thr378=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002324549]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002216505] |
Chr5:235213 [GRCh38]
Chr5:235328 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+19T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002099882] |
Chr5:225581 [GRCh38]
Chr5:225696 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+20C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002199683] |
Chr5:218438 [GRCh38]
Chr5:218553 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1909-18C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002182871] |
Chr5:256316 [GRCh38]
Chr5:256431 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+13C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002156100] |
Chr5:226060 [GRCh38]
Chr5:226175 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1167C>T (p.Ile389=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339914]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002220838] |
Chr5:235246 [GRCh38]
Chr5:235361 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-16C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002198230] |
Chr5:251322 [GRCh38]
Chr5:251437 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1296G>T (p.Val432=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002198178] |
Chr5:236463 [GRCh38]
Chr5:236578 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-10C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002198179] |
Chr5:236418 [GRCh38]
Chr5:236533 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1663+11A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002162145] |
Chr5:251114 [GRCh38]
Chr5:251229 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+14C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002139995] |
Chr5:226061 [GRCh38]
Chr5:226176 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+11C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002176189] |
Chr5:226058 [GRCh38]
Chr5:226173 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1909-20C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002176336] |
Chr5:256314 [GRCh38]
Chr5:256429 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1677C>T (p.Asn559=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002200848] |
Chr5:251351 [GRCh38]
Chr5:251466 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1176C>A (p.Gly392=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002164334] |
Chr5:235255 [GRCh38]
Chr5:235370 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+17C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002082675] |
Chr5:251485 [GRCh38]
Chr5:251600 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1660C>A (p.Arg554=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398197]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002217905] |
Chr5:251100 [GRCh38]
Chr5:251215 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-15C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002217907] |
Chr5:223467 [GRCh38]
Chr5:223582 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432+9T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002082719] |
Chr5:236608 [GRCh38]
Chr5:236723 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+16C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002155618] |
Chr5:224537 [GRCh38]
Chr5:224652 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-8dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002136909]|SDHA-related condition [RCV003958767] |
Chr5:240342..240343 [GRCh38]
Chr5:240457..240458 [GRCh37]
Chr5:5p15.33 |
benign|likely benign |
| NM_004168.4(SDHA):c.141T>G (p.Val47=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002159256] |
Chr5:223559 [GRCh38]
Chr5:223674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-11A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002220201] |
Chr5:225872 [GRCh38]
Chr5:225987 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1770C>A (p.Gly590=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002155760] |
Chr5:251444 [GRCh38]
Chr5:251559 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.984G>A (p.Glu328=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382287]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002175371] |
Chr5:233565 [GRCh38]
Chr5:233680 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.285T>C (p.Pro95=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434567]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002140638] |
Chr5:224494 [GRCh38]
Chr5:224609 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1443C>T (p.Val481=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002182582] |
Chr5:240368 [GRCh38]
Chr5:240483 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.726G>A (p.Gly242=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382437]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002144391] |
Chr5:228289 [GRCh38]
Chr5:228404 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-14T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002175598] |
Chr5:240344 [GRCh38]
Chr5:240459 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1131C>T (p.Ala377=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002325690]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002175720] |
Chr5:235210 [GRCh38]
Chr5:235325 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+19A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002139657] |
Chr5:226066 [GRCh38]
Chr5:226181 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-14A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002098693] |
Chr5:250978 [GRCh38]
Chr5:251093 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1245C>G (p.Thr415=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002203900] |
Chr5:235324 [GRCh38]
Chr5:235439 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-9C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002157454] |
Chr5:225874 [GRCh38]
Chr5:225989 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.348G>A (p.Glu116=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454348]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002177199] |
Chr5:225454 [GRCh38]
Chr5:225569 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1209C>A (p.Leu403=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002346384]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002197842] |
Chr5:235288 [GRCh38]
Chr5:235403 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1020A>G (p.Arg340=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002119564] |
Chr5:233601 [GRCh38]
Chr5:233716 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.102C>T (p.His34=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382369]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002117682] |
Chr5:223520 [GRCh38]
Chr5:223635 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+8G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002139773]|not provided [RCV003478945] |
Chr5:225570 [GRCh38]
Chr5:225685 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.1794+19C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002098359] |
Chr5:251487 [GRCh38]
Chr5:251602 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1680G>T (p.Thr560=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002156655] |
Chr5:251354 [GRCh38]
Chr5:251469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-13_64-5del |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002179809] |
Chr5:223460..223468 [GRCh38]
Chr5:223575..223583 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+10T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002122156] |
Chr5:218428 [GRCh38]
Chr5:218543 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+14C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002200675] |
Chr5:235353 [GRCh38]
Chr5:235468 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1581T>C (p.Arg527=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398249]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002155140] |
Chr5:251021 [GRCh38]
Chr5:251136 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.48G>C (p.Leu16=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337357]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002139955] |
Chr5:218403 [GRCh38]
Chr5:218518 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.615T>C (p.Tyr205=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002202864] |
Chr5:226041 [GRCh38]
Chr5:226156 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.459A>G (p.Leu153=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002101700] |
Chr5:225885 [GRCh38]
Chr5:226000 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-17G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002202627] |
Chr5:235127 [GRCh38]
Chr5:235242 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+15T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002176777] |
Chr5:235354 [GRCh38]
Chr5:235469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+18G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002220289] |
Chr5:223586 [GRCh38]
Chr5:223701 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+12C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003110248] |
Chr5:226059 [GRCh38]
Chr5:226174 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.151-3C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003121616] |
Chr5:224357 [GRCh38]
Chr5:224472 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.637dup (p.Thr213fs) |
duplication |
Paragangliomas 5 [RCV003149094] |
Chr5:228199..228200 [GRCh38]
Chr5:228314..228315 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1065-2A>G |
single nucleotide variant |
Paragangliomas 5 [RCV003149095] |
Chr5:235142 [GRCh38]
Chr5:235257 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.771-17_771-11del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002255980] |
Chr5:230859..230865 [GRCh38]
Chr5:230974..230980 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1399T>A (p.Cys467Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258626] |
Chr5:236566 [GRCh38]
Chr5:236681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1357_1363del (p.Gly453fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003278321] |
Chr5:236524..236530 [GRCh38]
Chr5:236639..236645 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1001_1064+5dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003278322] |
Chr5:233579..233580 [GRCh38]
Chr5:233694..233695 [GRCh37]
Chr5:5p15.33 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1 |
copy number loss |
See cases [RCV002286352] |
Chr5:113576..8007018 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_004168.4(SDHA):c.1152A>G (p.Ser384=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349115] |
Chr5:235231 [GRCh38]
Chr5:235346 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-43G>A |
single nucleotide variant |
not specified [RCV002268763] |
Chr5:235101 [GRCh38]
Chr5:235216 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349287]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775721] |
Chr5:233593 [GRCh38]
Chr5:233708 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.622-2A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366535] |
Chr5:228183 [GRCh38]
Chr5:228298 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.299C>T (p.Thr100Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435583] |
Chr5:224508 [GRCh38]
Chr5:224623 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1158A>G (p.Thr386=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366299] |
Chr5:235237 [GRCh38]
Chr5:235352 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456G>C (p.Glu152Asp) |
single nucleotide variant |
not specified [RCV002268762] |
Chr5:225562 [GRCh38]
Chr5:225677 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.808C>T (p.His270Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419423] |
Chr5:230913 [GRCh38]
Chr5:231028 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.33G>A (p.Leu11=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452047] |
Chr5:218388 [GRCh38]
Chr5:218503 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.387C>T (p.Gly129=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366295]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775757] |
Chr5:225493 [GRCh38]
Chr5:225608 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.283C>T (p.Pro95Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435229] |
Chr5:224492 [GRCh38]
Chr5:224607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.621G>C (p.Arg207Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366521] |
Chr5:226047 [GRCh38]
Chr5:226162 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.7G>A (p.Gly3Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419173]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776470] |
Chr5:218362 [GRCh38]
Chr5:218477 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435617] |
Chr5:218354 [GRCh38]
Chr5:218469 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-2027194)x1 |
copy number loss |
See cases [RCV002293403] |
Chr5:113576..2027194 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.807C>A (p.Ala269=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419387]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003120969] |
Chr5:230912 [GRCh38]
Chr5:231027 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.509A>G (p.Gln170Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351476]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776033] |
Chr5:225935 [GRCh38]
Chr5:226050 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.988T>G (p.Tyr330Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387414] |
Chr5:233569 [GRCh38]
Chr5:233684 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1076C>G (p.Pro359Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002419944] |
Chr5:235155 [GRCh38]
Chr5:235270 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) |
copy number gain |
5p partial monosomy syndrome [RCV002280773] |
Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_004168.4(SDHA):c.1325C>T (p.Ala442Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385777]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774266] |
Chr5:236492 [GRCh38]
Chr5:236607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1203T>G (p.Pro401=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351946]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003096789] |
Chr5:235282 [GRCh38]
Chr5:235397 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1328G>T (p.Cys443Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002385845] |
Chr5:236495 [GRCh38]
Chr5:236610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.32T>G (p.Leu11Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002454691]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775581] |
Chr5:218387 [GRCh38]
Chr5:218502 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.545A>C (p.Lys182Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002349699] |
Chr5:225971 [GRCh38]
Chr5:226086 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.114T>C (p.Asp38=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002452677]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003094291] |
Chr5:223532 [GRCh38]
Chr5:223647 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1959C>T (p.Asp653=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421678]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003097389] |
Chr5:256384 [GRCh38]
Chr5:256499 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1088A>G (p.His363Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002297769] |
Chr5:235167 [GRCh38]
Chr5:235282 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002421741]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003097391] |
Chr5:256385 [GRCh38]
Chr5:256500 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.635A>C (p.Asp212Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369006] |
Chr5:228198 [GRCh38]
Chr5:228313 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.495T>C (p.Asp165=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002351334] |
Chr5:225921 [GRCh38]
Chr5:226036 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.301G>T (p.Val101Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002435877]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775445] |
Chr5:224510 [GRCh38]
Chr5:224625 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.664T>C (p.Leu222=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002366853] |
Chr5:228227 [GRCh38]
Chr5:228342 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.978T>C (p.Phe326=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387200]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774211] |
Chr5:233559 [GRCh38]
Chr5:233674 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.670C>T (p.Leu224Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475354]|Hereditary cancer-predisposing syndrome [RCV002367197]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003103323] |
Chr5:228233 [GRCh38]
Chr5:228348 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.636T>C (p.Asp212=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369086] |
Chr5:228199 [GRCh38]
Chr5:228314 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.986G>T (p.Arg329Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387360] |
Chr5:233567 [GRCh38]
Chr5:233682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs) |
deletion |
Dilated cardiomyopathy 1GG [RCV003475330]|Hereditary cancer-predisposing syndrome [RCV003340474]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003097776]|Paragangliomas 5 [RCV002289321] |
Chr5:236447..236462 [GRCh38]
Chr5:236562..236577 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.932G>A (p.Cys311Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300904] |
Chr5:233513 [GRCh38]
Chr5:233628 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.324dup (p.Ala109fs) |
duplication |
Paragangliomas 5 [RCV003149097] |
Chr5:225429..225430 [GRCh38]
Chr5:225544..225545 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1691A>T (p.Glu564Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414640] |
Chr5:251365 [GRCh38]
Chr5:251480 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1930_1932delinsATA (p.Val644Ile) |
indel |
not provided [RCV002469594] |
Chr5:256355..256357 [GRCh38]
Chr5:256470..256472 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1879del (p.Leu627fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002415257] |
Chr5:254475 [GRCh38]
Chr5:254590 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| GRCh37/hg19 5p15.33(chr5:150265-668842)x3 |
copy number gain |
not provided [RCV002474773] |
Chr5:150265..668842 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 |
copy number loss |
not provided [RCV002473919] |
Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002332241]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003094655] |
Chr5:235251 [GRCh38]
Chr5:235366 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417113]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003097419] |
Chr5:235152 [GRCh38]
Chr5:235267 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.-1C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417124] |
Chr5:218355 [GRCh38]
Chr5:218470 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.-1del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002417140] |
Chr5:218355 [GRCh38]
Chr5:218470 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113577-424937)x3 |
copy number gain |
not provided [RCV002473446] |
Chr5:113577..424937 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.416T>C (p.Ile139Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333394] |
Chr5:225522 [GRCh38]
Chr5:225637 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002302872] |
Chr5:236486 [GRCh38]
Chr5:236601 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.798C>T (p.Cys266=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412399]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776466]|not provided [RCV003434479] |
Chr5:230903 [GRCh38]
Chr5:231018 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.527A>G (p.Gln176Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344434] |
Chr5:225953 [GRCh38]
Chr5:226068 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260G>A (p.Gln420=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412599]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003099922] |
Chr5:235339 [GRCh38]
Chr5:235454 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1845G>T (p.Lys615Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412921] |
Chr5:254443 [GRCh38]
Chr5:254558 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113577-316451)x3 |
copy number gain |
not provided [RCV002473617] |
Chr5:113577..316451 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.842C>A (p.Thr281Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414350]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776504] |
Chr5:230947 [GRCh38]
Chr5:231062 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002363753]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002303643] |
Chr5:233581 [GRCh38]
Chr5:233696 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1101G>A (p.Gln367=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002433073]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003101920] |
Chr5:235180 [GRCh38]
Chr5:235295 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1054del (p.Arg352fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002406155]|not provided [RCV003156384] |
Chr5:233634 [GRCh38]
Chr5:233749 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.436G>C (p.Ala146Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002303954] |
Chr5:225542 [GRCh38]
Chr5:225657 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.175G>A (p.Asp59Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002303964] |
Chr5:224384 [GRCh38]
Chr5:224499 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.719A>T (p.Glu240Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370810] |
Chr5:228282 [GRCh38]
Chr5:228397 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.213G>A (p.Gly71=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430524] |
Chr5:224422 [GRCh38]
Chr5:224537 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002296840] |
Chr5:236576 [GRCh38]
Chr5:236691 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1645C>T (p.Leu549=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403609]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774432] |
Chr5:251085 [GRCh38]
Chr5:251200 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.618A>T (p.Gly206=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353803] |
Chr5:226044 [GRCh38]
Chr5:226159 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.-3G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375650] |
Chr5:218353 [GRCh38]
Chr5:218468 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1659C>A (p.Asp553Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403771] |
Chr5:251099 [GRCh38]
Chr5:251214 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1500A>G (p.Arg500=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389921]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003095249] |
Chr5:240425 [GRCh38]
Chr5:240540 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.895G>A (p.Gly299Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376226]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774144] |
Chr5:231000 [GRCh38]
Chr5:231115 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.223C>G (p.Arg75Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428345] |
Chr5:224432 [GRCh38]
Chr5:224547 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.898A>G (p.Ile300Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376276]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003100074] |
Chr5:233479 [GRCh38]
Chr5:233594 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.230C>T (p.Ala77Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428500] |
Chr5:224439 [GRCh38]
Chr5:224554 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1795G>A (p.Val599Met) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475331]|not provided [RCV002301012] |
Chr5:254393 [GRCh38]
Chr5:254508 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1883C>T (p.Ser628Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415346] |
Chr5:254481 [GRCh38]
Chr5:254596 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.967G>T (p.Gly323Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376563] |
Chr5:233548 [GRCh38]
Chr5:233663 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002300012] |
Chr5:240445 [GRCh38]
Chr5:240560 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1285G>C (p.Asp429His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383173] |
Chr5:236452 [GRCh38]
Chr5:236567 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1001C>G (p.Ala334Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383202] |
Chr5:233582 [GRCh38]
Chr5:233697 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1767G>A (p.Arg589=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401757] |
Chr5:251441 [GRCh38]
Chr5:251556 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1635C>G (p.Asp545Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401358] |
Chr5:251075 [GRCh38]
Chr5:251190 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1894G>C (p.Val632Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408079] |
Chr5:254492 [GRCh38]
Chr5:254607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391669]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003095123] |
Chr5:236581 [GRCh38]
Chr5:236696 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.199G>A (p.Val67Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002417077]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774596] |
Chr5:224408 [GRCh38]
Chr5:224523 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.44G>T (p.Arg15Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002305344] |
Chr5:218399 [GRCh38]
Chr5:218514 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1647G>A (p.Leu549=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394995] |
Chr5:251087 [GRCh38]
Chr5:251202 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1907A>G (p.Lys636Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408366] |
Chr5:254505 [GRCh38]
Chr5:254620 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.872A>C (p.Glu291Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373489]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003100010] |
Chr5:230977 [GRCh38]
Chr5:231092 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.422A>T (p.Tyr141Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328092] |
Chr5:225528 [GRCh38]
Chr5:225643 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.729C>G (p.Ser243=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382720]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776373]|not provided [RCV003476977] |
Chr5:228292 [GRCh38]
Chr5:228407 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.465T>G (p.Asn155Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330488]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775944] |
Chr5:225891 [GRCh38]
Chr5:226006 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376864] |
Chr5:233563 [GRCh38]
Chr5:233678 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.57C>T (p.Ala19=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359855]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776159] |
Chr5:218412 [GRCh38]
Chr5:218527 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1180G>A (p.Asp394Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335068] |
Chr5:235259 [GRCh38]
Chr5:235374 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.867C>G (p.Asp289Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449681]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003100000] |
Chr5:230972 [GRCh38]
Chr5:231087 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1569T>G (p.Ala523=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405610] |
Chr5:251009 [GRCh38]
Chr5:251124 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+4A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320489]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003099215] |
Chr5:224525 [GRCh38]
Chr5:224640 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.217G>C (p.Gly73Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002432884] |
Chr5:224426 [GRCh38]
Chr5:224541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.832G>T (p.Ala278Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002434643] |
Chr5:230937 [GRCh38]
Chr5:231052 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.862C>T (p.Gln288Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002371170] |
Chr5:230967 [GRCh38]
Chr5:231082 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.258T>C (p.Asn86=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002426142] |
Chr5:224467 [GRCh38]
Chr5:224582 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.313-2A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320611] |
Chr5:225417 [GRCh38]
Chr5:225532 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1971C>A (p.Val657=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423497] |
Chr5:256396 [GRCh38]
Chr5:256511 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1669G>T (p.Val557Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403960] |
Chr5:251343 [GRCh38]
Chr5:251458 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.769G>A (p.Gly257Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400561]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776427] |
Chr5:228332 [GRCh38]
Chr5:228447 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.771-21_771-13del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003164527]|not provided [RCV002306023] |
Chr5:230853..230861 [GRCh38]
Chr5:230968..230976 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.137A>T (p.Lys46Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002381126] |
Chr5:223555 [GRCh38]
Chr5:223670 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.172G>A (p.Val58Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399172]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774479] |
Chr5:224381 [GRCh38]
Chr5:224496 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.999C>A (p.Val333=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383062]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003103626] |
Chr5:233580 [GRCh38]
Chr5:233695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1733C>G (p.Thr578Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002399213] |
Chr5:251407 [GRCh38]
Chr5:251522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.9G>A (p.Gly3=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383152]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003094918] |
Chr5:218364 [GRCh38]
Chr5:218479 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.167C>T (p.Pro56Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002300329] |
Chr5:224376 [GRCh38]
Chr5:224491 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403033]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774374] |
Chr5:240460 [GRCh38]
Chr5:240575 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1307A>G (p.Tyr436Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380981] |
Chr5:236474 [GRCh38]
Chr5:236589 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.124A>T (p.Arg42Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400695] |
Chr5:223542 [GRCh38]
Chr5:223657 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1284G>A (p.Gln428=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382904] |
Chr5:236451 [GRCh38]
Chr5:236566 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.318A>T (p.Gly106=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322831]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775067] |
Chr5:225424 [GRCh38]
Chr5:225539 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1386C>T (p.Val462=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396541] |
Chr5:236553 [GRCh38]
Chr5:236668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.775T>C (p.Tyr259His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002409715] |
Chr5:230880 [GRCh38]
Chr5:230995 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002302051] |
Chr5:236488 [GRCh38]
Chr5:236603 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1511G>A (p.Gly504Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392221] |
Chr5:240436 [GRCh38]
Chr5:240551 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.892A>G (p.Thr298Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376147]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774139] |
Chr5:230997 [GRCh38]
Chr5:231112 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.773G>A (p.Gly258Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400772] |
Chr5:230878 [GRCh38]
Chr5:230993 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.996T>C (p.Pro332=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002382991] |
Chr5:233577 [GRCh38]
Chr5:233692 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.43C>T (p.Arg15Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333730] |
Chr5:218398 [GRCh38]
Chr5:218513 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.969C>G (p.Gly323=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002376607]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003094856] |
Chr5:233550 [GRCh38]
Chr5:233665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002353869] |
Chr5:226051 [GRCh38]
Chr5:226166 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1629T>A (p.Tyr543Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401223] |
Chr5:251069 [GRCh38]
Chr5:251184 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002389756]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003095236] |
Chr5:240418..240440 [GRCh38]
Chr5:240533..240555 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1499G>A (p.Arg500Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389859] |
Chr5:240424 [GRCh38]
Chr5:240539 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1589del (p.Ser530fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002398383] |
Chr5:251029 [GRCh38]
Chr5:251144 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1452T>C (p.Ile484=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394648]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003095185] |
Chr5:240377 [GRCh38]
Chr5:240492 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407780]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003097247] |
Chr5:251473 [GRCh38]
Chr5:251588 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389721]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003095233] |
Chr5:240417 [GRCh38]
Chr5:240532 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1045C>T (p.Leu349=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405424]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774386] |
Chr5:233626 [GRCh38]
Chr5:233741 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1344dup (p.Ala449fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002387775] |
Chr5:236510..236511 [GRCh38]
Chr5:236625..236626 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387815]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003095007] |
Chr5:236512 [GRCh38]
Chr5:236627 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396873]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774347] |
Chr5:240393 [GRCh38]
Chr5:240508 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1904G>C (p.Gly635Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408317] |
Chr5:254502 [GRCh38]
Chr5:254617 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.655T>C (p.Tyr219His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364411] |
Chr5:228218 [GRCh38]
Chr5:228333 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1800G>A (p.Arg600=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407909] |
Chr5:254398 [GRCh38]
Chr5:254513 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002295255] |
Chr5:235293 [GRCh38]
Chr5:235408 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.5dup (p.Val4fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002357983]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003098098] |
Chr5:218359..218360 [GRCh38]
Chr5:218474..218475 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1566T>C (p.His522=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405544] |
Chr5:251006 [GRCh38]
Chr5:251121 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1235G>A (p.Gly412Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002364850] |
Chr5:235314 [GRCh38]
Chr5:235429 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+5G>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408376]|SDHA-related condition [RCV003403818] |
Chr5:254511 [GRCh38]
Chr5:254626 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1008C>T (p.Asp336=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460032]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775251] |
Chr5:233589 [GRCh38]
Chr5:233704 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.264A>G (p.Ala88=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002428679]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775325] |
Chr5:224473 [GRCh38]
Chr5:224588 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394829]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774412] |
Chr5:251050 [GRCh38]
Chr5:251165 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.331C>G (p.Leu111Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002326366] |
Chr5:225437 [GRCh38]
Chr5:225552 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475333]|Hereditary cancer-predisposing syndrome [RCV002409646]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002303880] |
Chr5:235331 [GRCh38]
Chr5:235446 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1223A>G (p.Tyr408Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002361818] |
Chr5:235302 [GRCh38]
Chr5:235417 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.428C>G (p.Thr143Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330184] |
Chr5:225534 [GRCh38]
Chr5:225649 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1112T>C (p.Leu371Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439312] |
Chr5:235191 [GRCh38]
Chr5:235306 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1209C>T (p.Leu403=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002359621]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003103229] |
Chr5:235288 [GRCh38]
Chr5:235403 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.840C>T (p.Ile280=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002445859] |
Chr5:230945 [GRCh38]
Chr5:231060 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.12C>G (p.Val4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002380782] |
Chr5:218367 [GRCh38]
Chr5:218482 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400430]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002304817] |
Chr5:251413 [GRCh38]
Chr5:251528 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.403G>T (p.Asp135Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002321198] |
Chr5:225509 [GRCh38]
Chr5:225624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002295188] |
Chr5:236563 [GRCh38]
Chr5:236678 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1578C>G (p.Phe526Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405738] |
Chr5:251018 [GRCh38]
Chr5:251133 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.291G>A (p.Arg97=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002439942]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003102879] |
Chr5:224500 [GRCh38]
Chr5:224615 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1664-4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403872]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003097082] |
Chr5:251334 [GRCh38]
Chr5:251449 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423392]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774583] |
Chr5:256391 [GRCh38]
Chr5:256506 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002335825]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003096600] |
Chr5:225932 [GRCh38]
Chr5:226047 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1718T>C (p.Leu573Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414761] |
Chr5:251392 [GRCh38]
Chr5:251507 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.654G>T (p.Glu218Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002301576] |
Chr5:228217 [GRCh38]
Chr5:228332 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.606C>T (p.His202=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358363]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776213] |
Chr5:226032 [GRCh38]
Chr5:226147 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.750G>A (p.Lys250=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002393759]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776404] |
Chr5:228313 [GRCh38]
Chr5:228428 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.601T>C (p.Leu201=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002358116] |
Chr5:226027 [GRCh38]
Chr5:226142 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.186T>C (p.Phe62=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415089] |
Chr5:224395 [GRCh38]
Chr5:224510 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.24G>T (p.Ser8=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431093] |
Chr5:218379 [GRCh38]
Chr5:218494 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1731G>A (p.Gln577=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407431] |
Chr5:251405 [GRCh38]
Chr5:251520 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.885C>T (p.Phe295=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002375948] |
Chr5:230990 [GRCh38]
Chr5:231105 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.24G>A (p.Ser8=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431087] |
Chr5:218379 [GRCh38]
Chr5:218494 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.645T>C (p.Tyr215=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002361895]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003098256] |
Chr5:228208 [GRCh38]
Chr5:228323 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1869G>A (p.Arg623=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415043] |
Chr5:254467 [GRCh38]
Chr5:254582 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.271A>G (p.Thr91Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002431251] |
Chr5:224480 [GRCh38]
Chr5:224595 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423950]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003775093] |
Chr5:235158 [GRCh38]
Chr5:235273 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1072G>A (p.Gly358Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002423794] |
Chr5:235151 [GRCh38]
Chr5:235266 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.512G>C (p.Arg171Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002344218]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003096626] |
Chr5:225938 [GRCh38]
Chr5:226053 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.438C>A (p.Ala146=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002333615] |
Chr5:225544 [GRCh38]
Chr5:225659 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.318A>G (p.Gly106=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002322826] |
Chr5:225424 [GRCh38]
Chr5:225539 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1773G>T (p.Ala591=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407674]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003108090] |
Chr5:251447 [GRCh38]
Chr5:251562 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1741G>C (p.Gly581Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401413] |
Chr5:251415 [GRCh38]
Chr5:251530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.425T>A (p.Met142Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002329939] |
Chr5:225531 [GRCh38]
Chr5:225646 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408375] |
Chr5:254511 [GRCh38]
Chr5:254626 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1068C>T (p.Gly356=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410527] |
Chr5:235147 [GRCh38]
Chr5:235262 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1912A>G (p.Thr638Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410555] |
Chr5:256337 [GRCh38]
Chr5:256452 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1716dup (p.Leu573fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV002414754]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003097158] |
Chr5:251389..251390 [GRCh38]
Chr5:251504..251505 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1861C>T (p.His621Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002414928] |
Chr5:254459 [GRCh38]
Chr5:254574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1449A>C (p.Pro483=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394505] |
Chr5:240374 [GRCh38]
Chr5:240489 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002401394] |
Chr5:251414 [GRCh38]
Chr5:251529 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.186del (p.Phe62fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002415074] |
Chr5:224393 [GRCh38]
Chr5:224508 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.747A>G (p.Ala249=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391496]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776395] |
Chr5:228310 [GRCh38]
Chr5:228425 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1638A>T (p.Leu546=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394911] |
Chr5:251078 [GRCh38]
Chr5:251193 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1584G>A (p.Val528=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398291]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774395] |
Chr5:251024 [GRCh38]
Chr5:251139 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1832A>T (p.Gln611Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412666] |
Chr5:254430 [GRCh38]
Chr5:254545 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1750_1752delinsACG (p.Ala584Thr) |
indel |
Hereditary cancer-predisposing syndrome [RCV002401570] |
Chr5:251424..251426 [GRCh38]
Chr5:251539..251541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1565A>G (p.His522Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002405500]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003100725] |
Chr5:251005 [GRCh38]
Chr5:251120 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002408408]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003100928]|not provided [RCV003476996] |
Chr5:256331 [GRCh38]
Chr5:256446 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1641G>A (p.Lys547=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002394937]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774429] |
Chr5:251081 [GRCh38]
Chr5:251196 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.11T>C (p.Val4Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002347167] |
Chr5:218366 [GRCh38]
Chr5:218481 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.297C>T (p.His99=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002442194]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003102941] |
Chr5:224506 [GRCh38]
Chr5:224621 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.194T>C (p.Val65Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002300119] |
Chr5:224403 [GRCh38]
Chr5:224518 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.426G>C (p.Met142Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002330022] |
Chr5:225532 [GRCh38]
Chr5:225647 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1848del (p.Lys616fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002412962] |
Chr5:254446 [GRCh38]
Chr5:254561 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1839A>G (p.Gln613=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002412779] |
Chr5:254437 [GRCh38]
Chr5:254552 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1711C>T (p.Leu571=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002398910] |
Chr5:251385 [GRCh38]
Chr5:251500 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.882G>A (p.Gln294=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002373772]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003100037] |
Chr5:230987 [GRCh38]
Chr5:231102 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1185C>T (p.Val395=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002337906] |
Chr5:235264 [GRCh38]
Chr5:235379 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.596C>G (p.Ser199Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002356079]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776190] |
Chr5:226022 [GRCh38]
Chr5:226137 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1293del (p.Ile431fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002380601] |
Chr5:236459 [GRCh38]
Chr5:236574 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1929C>G (p.Pro643=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002410847] |
Chr5:256354 [GRCh38]
Chr5:256469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1877C>T (p.Thr626Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002415217] |
Chr5:254475 [GRCh38]
Chr5:254590 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1035G>A (p.Arg345=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002391982] |
Chr5:233616 [GRCh38]
Chr5:233731 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.768A>G (p.Thr256=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002400512] |
Chr5:228331 [GRCh38]
Chr5:228446 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.67C>G (p.Pro23Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002369472] |
Chr5:223485 [GRCh38]
Chr5:223600 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.360G>T (p.Arg120Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455332] |
Chr5:225466 [GRCh38]
Chr5:225581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.313-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002320605] |
Chr5:225418 [GRCh38]
Chr5:225533 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1534C>A (p.Arg512=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403017] |
Chr5:240459 [GRCh38]
Chr5:240574 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1432G>A (p.Gly478Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002392096] |
Chr5:236599 [GRCh38]
Chr5:236714 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002301629] |
Chr5:251047 [GRCh38]
Chr5:251162 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.498G>A (p.Gly166=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342942]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003096554] |
Chr5:225924 [GRCh38]
Chr5:226039 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.-4A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343027] |
Chr5:218352 [GRCh38]
Chr5:218467 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065A>C (p.Arg355Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002413113] |
Chr5:235144 [GRCh38]
Chr5:235259 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1029G>A (p.Val343=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002387863]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774277] |
Chr5:233610 [GRCh38]
Chr5:233725 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.44G>A (p.Arg15His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002328688]|not provided [RCV003443035] |
Chr5:218399 [GRCh38]
Chr5:218514 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.-4A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002343035] |
Chr5:218352 [GRCh38]
Chr5:218467 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1017T>G (p.Ser339=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002345208] |
Chr5:233598 [GRCh38]
Chr5:233713 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457C>T (p.Leu153=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002342190]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003094767] |
Chr5:225883 [GRCh38]
Chr5:225998 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.243T>C (p.Ser81=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460027]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003101821] |
Chr5:224452 [GRCh38]
Chr5:224567 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002403379] |
Chr5:240481 [GRCh38]
Chr5:240596 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1737C>A (p.Ile579=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002407459]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003774481] |
Chr5:251411 [GRCh38]
Chr5:251526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.719A>C (p.Glu240Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002370806]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003776364] |
Chr5:228282 [GRCh38]
Chr5:228397 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.515C>A (p.Ala172Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002299585] |
Chr5:225941 [GRCh38]
Chr5:226056 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1395G>A (p.Arg465=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002389102] |
Chr5:236562 [GRCh38]
Chr5:236677 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.998T>C (p.Val333Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002383043] |
Chr5:233579 [GRCh38]
Chr5:233694 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1467G>A (p.Gly489=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002396856] |
Chr5:240392 [GRCh38]
Chr5:240507 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.893C>T (p.Thr298Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002449879] |
Chr5:230998 [GRCh38]
Chr5:231113 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+14G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002994619] |
Chr5:225576 [GRCh38]
Chr5:225691 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.531C>G (p.Ser177Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002615281] |
Chr5:225957 [GRCh38]
Chr5:226072 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1028T>C (p.Val343Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002842203] |
Chr5:233609 [GRCh38]
Chr5:233724 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1816T>C (p.Tyr606His) |
single nucleotide variant |
not provided [RCV002488673] |
Chr5:254414 [GRCh38]
Chr5:254529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1859A>T (p.Glu620Val) |
single nucleotide variant |
not provided [RCV002488674] |
Chr5:254457 [GRCh38]
Chr5:254572 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1433-18A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002904201] |
Chr5:240340 [GRCh38]
Chr5:240455 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+18G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003032689] |
Chr5:251486 [GRCh38]
Chr5:251601 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.466T>C (p.Tyr156His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002615062] |
Chr5:225892 [GRCh38]
Chr5:226007 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.17_18insA (p.Leu7fs) |
insertion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002881583] |
Chr5:218372..218373 [GRCh38]
Chr5:218487..218488 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.625C>G (p.Leu209Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002838706] |
Chr5:228188 [GRCh38]
Chr5:228303 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003015540] |
Chr5:251048 [GRCh38]
Chr5:251163 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.313-13T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002838155] |
Chr5:225406 [GRCh38]
Chr5:225521 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-15A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003074284] |
Chr5:224345 [GRCh38]
Chr5:224460 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.434A>G (p.Gln145Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002880440] |
Chr5:225540 [GRCh38]
Chr5:225655 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs) |
insertion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003035160] |
Chr5:240361..240362 [GRCh38]
Chr5:240476..240477 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.3:c.1_1995dup |
duplication |
not provided [RCV002481119] |
|
uncertain significance |
| NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002843615] |
Chr5:236554 [GRCh38]
Chr5:236669 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.138A>G (p.Lys46=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003035175] |
Chr5:223556 [GRCh38]
Chr5:223671 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002843230] |
Chr5:233572..233573 [GRCh38]
Chr5:233687..233688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.494A>T (p.Asp165Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002908062] |
Chr5:225920 [GRCh38]
Chr5:226035 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002991673] |
Chr5:251040 [GRCh38]
Chr5:251155 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.665T>C (p.Leu222Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002997031] |
Chr5:228228 [GRCh38]
Chr5:228343 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+10T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002863823] |
Chr5:236609 [GRCh38]
Chr5:236724 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002838852] |
Chr5:236557 [GRCh38]
Chr5:236672 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+18T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002863476] |
Chr5:235357 [GRCh38]
Chr5:235472 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002815280] |
Chr5:235326 [GRCh38]
Chr5:235441 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.848C>T (p.Ala283Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002815762] |
Chr5:230953 [GRCh38]
Chr5:231068 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1236C>T (p.Gly412=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002863274] |
Chr5:235315 [GRCh38]
Chr5:235430 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.837G>C (p.Met279Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002614584] |
Chr5:230942 [GRCh38]
Chr5:231057 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.677T>A (p.Met226Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002993816] |
Chr5:228240 [GRCh38]
Chr5:228355 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+12G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002615462] |
Chr5:225574 [GRCh38]
Chr5:225689 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1296G>A (p.Val432=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003095824] |
Chr5:236463 [GRCh38]
Chr5:236578 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-4A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002815178] |
Chr5:225879 [GRCh38]
Chr5:225994 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.132T>A (p.Ser44=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002755073] |
Chr5:223550 [GRCh38]
Chr5:223665 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.53T>A (p.Leu18Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002615182] |
Chr5:218408 [GRCh38]
Chr5:218523 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.556G>T (p.Ala186Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003274043]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002815599] |
Chr5:225982 [GRCh38]
Chr5:226097 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1564C>T (p.His522Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003034962] |
Chr5:251004 [GRCh38]
Chr5:251119 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.865G>A (p.Asp289Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002685566] |
Chr5:230970 [GRCh38]
Chr5:231085 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+4A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002881498] |
Chr5:225566 [GRCh38]
Chr5:225681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 |
copy number loss |
not provided [RCV002475666] |
Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_004168.4(SDHA):c.54G>T (p.Leu18=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003098967] |
Chr5:218409 [GRCh38]
Chr5:218524 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1064+3G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002685823] |
Chr5:233648 [GRCh38]
Chr5:233763 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1659C>T (p.Asp553=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002819191] |
Chr5:251099 [GRCh38]
Chr5:251214 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1719G>A (p.Leu573=) |
single nucleotide variant |
not provided [RCV002481092] |
Chr5:251393 [GRCh38]
Chr5:251508 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.867C>T (p.Asp289=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002686012] |
Chr5:230972 [GRCh38]
Chr5:231087 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 |
copy number loss |
not provided [RCV002475573] |
Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_004168.4(SDHA):c.222G>C (p.Leu74Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002776502] |
Chr5:224431 [GRCh38]
Chr5:224546 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.696T>G (p.Arg232=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002848397] |
Chr5:228259 [GRCh38]
Chr5:228374 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.591C>G (p.Gly197=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002889464] |
Chr5:226017 [GRCh38]
Chr5:226132 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+6C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002825362] |
Chr5:251474 [GRCh38]
Chr5:251589 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+11T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002740344] |
Chr5:251479 [GRCh38]
Chr5:251594 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.377C>A (p.Thr126Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002708048] |
Chr5:225483 [GRCh38]
Chr5:225598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312+18C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003077835] |
Chr5:224539 [GRCh38]
Chr5:224654 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.60G>A (p.Lys20=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002953545] |
Chr5:218415 [GRCh38]
Chr5:218530 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002999382] |
Chr5:251457 [GRCh38]
Chr5:251572 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663+10C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003053612] |
Chr5:251113 [GRCh38]
Chr5:251228 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.220T>C (p.Leu74=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003020674] |
Chr5:224429 [GRCh38]
Chr5:224544 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-20A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002847468] |
Chr5:235124 [GRCh38]
Chr5:235239 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.144A>G (p.Ser48=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003018461] |
Chr5:223562 [GRCh38]
Chr5:223677 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1133dup (p.Arg379fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003054135] |
Chr5:235211..235212 [GRCh38]
Chr5:235326..235327 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1674G>C (p.Trp558Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002798139] |
Chr5:251348 [GRCh38]
Chr5:251463 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.921T>C (p.Ile307=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002867652] |
Chr5:233502 [GRCh38]
Chr5:233617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.751A>G (p.Asn251Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003035700] |
Chr5:228314 [GRCh38]
Chr5:228429 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1664-1G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002796547] |
Chr5:251337 [GRCh38]
Chr5:251452 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.205G>T (p.Ala69Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003021160] |
Chr5:224414 [GRCh38]
Chr5:224529 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.621+9G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002780364] |
Chr5:226056 [GRCh38]
Chr5:226171 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+11C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002953299] |
Chr5:226058 [GRCh38]
Chr5:226173 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1260+12G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002592955] |
Chr5:235351 [GRCh38]
Chr5:235466 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.436G>A (p.Ala146Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002909370] |
Chr5:225542 [GRCh38]
Chr5:225657 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002592748] |
Chr5:218404 [GRCh38]
Chr5:218519 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1620C>T (p.Ser540=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002886269] |
Chr5:251060 [GRCh38]
Chr5:251175 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-7G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003080398] |
Chr5:240351 [GRCh38]
Chr5:240466 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.842C>G (p.Thr281Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003080221] |
Chr5:230947 [GRCh38]
Chr5:231062 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663+1G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002885195] |
Chr5:251104 [GRCh38]
Chr5:251219 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1260+18T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003053226] |
Chr5:235357 [GRCh38]
Chr5:235472 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1064+4C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002781314] |
Chr5:233649 [GRCh38]
Chr5:233764 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.131C>G (p.Ser44Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003021309] |
Chr5:223549 [GRCh38]
Chr5:223664 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003077360] |
Chr5:233644 [GRCh38]
Chr5:233759 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.513T>A (p.Arg171=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002889357] |
Chr5:225939 [GRCh38]
Chr5:226054 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002846176] |
Chr5:236454 [GRCh38]
Chr5:236569 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1336G>A (p.Val446Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002705297] |
Chr5:236503 [GRCh38]
Chr5:236618 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1433-15T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003054675] |
Chr5:240343 [GRCh38]
Chr5:240458 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002706300] |
Chr5:235286 [GRCh38]
Chr5:235401 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002913898] |
Chr5:256388 [GRCh38]
Chr5:256503 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1931T>G (p.Val644Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002706539] |
Chr5:256356 [GRCh38]
Chr5:256471 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-19G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003038635] |
Chr5:236409 [GRCh38]
Chr5:236524 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+15G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002870948] |
Chr5:225577 [GRCh38]
Chr5:225692 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.861C>T (p.Cys287=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003340602]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003052924] |
Chr5:230966 [GRCh38]
Chr5:231081 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.622T>C (p.Ser208Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003079058] |
Chr5:228185 [GRCh38]
Chr5:228300 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1545G>A (p.Met515Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003167805]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002797179] |
Chr5:240470 [GRCh38]
Chr5:240585 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.261A>C (p.Thr87=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003170918]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003059178] |
Chr5:224470 [GRCh38]
Chr5:224585 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+18C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003007590] |
Chr5:240494 [GRCh38]
Chr5:240609 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1021G>A (p.Asp341Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002767517] |
Chr5:233602 [GRCh38]
Chr5:233717 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003022957] |
Chr5:240409 [GRCh38]
Chr5:240524 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.757G>C (p.Val253Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002644206] |
Chr5:228320 [GRCh38]
Chr5:228435 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003042586] |
Chr5:235261 [GRCh38]
Chr5:235376 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.545A>G (p.Lys182Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002644218] |
Chr5:225971 [GRCh38]
Chr5:226086 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-15A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003085917] |
Chr5:256319 [GRCh38]
Chr5:256434 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003085506]|not provided [RCV003477044] |
Chr5:251079 [GRCh38]
Chr5:251194 [GRCh37]
Chr5:5p15.33 |
likely benign|uncertain significance |
| NM_004168.4(SDHA):c.714C>T (p.Cys238=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002917959] |
Chr5:228277 [GRCh38]
Chr5:228392 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1138del (p.Leu380fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002791318] |
Chr5:235216 [GRCh38]
Chr5:235331 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002624452] |
Chr5:240386 [GRCh38]
Chr5:240501 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003005569] |
Chr5:233603 [GRCh38]
Chr5:233718 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.339C>T (p.Asn113=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002666720] |
Chr5:225445 [GRCh38]
Chr5:225560 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+10T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002710981] |
Chr5:218428 [GRCh38]
Chr5:218543 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.880C>A (p.Gln294Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003006201] |
Chr5:230985 [GRCh38]
Chr5:231100 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-17G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002800988] |
Chr5:224343 [GRCh38]
Chr5:224458 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.693C>T (p.Cys231=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003082552] |
Chr5:228256 [GRCh38]
Chr5:228371 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1138C>T (p.Leu380=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002801739] |
Chr5:235217 [GRCh38]
Chr5:235332 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.772G>T (p.Gly258Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002802206] |
Chr5:230877 [GRCh38]
Chr5:230992 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003040638] |
Chr5:218356..218357 [GRCh38]
Chr5:218471..218472 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.492A>G (p.Glu164=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003349042]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002595811] |
Chr5:225918 [GRCh38]
Chr5:226033 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+17T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002825659] |
Chr5:225579 [GRCh38]
Chr5:225694 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.286A>G (p.Thr96Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002932538] |
Chr5:224495 [GRCh38]
Chr5:224610 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1433-16C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002894775] |
Chr5:240342 [GRCh38]
Chr5:240457 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-8del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003082251] |
Chr5:240343 [GRCh38]
Chr5:240458 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.364C>A (p.His122Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003004949] |
Chr5:225470 [GRCh38]
Chr5:225585 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003042606] |
Chr5:235218 [GRCh38]
Chr5:235333 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308310]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002872079] |
Chr5:224526 [GRCh38]
Chr5:224641 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.717A>T (p.Ile239=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003082869] |
Chr5:228280 [GRCh38]
Chr5:228395 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1615A>G (p.Ile539Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003040695] |
Chr5:251055 [GRCh38]
Chr5:251170 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.272C>T (p.Thr91Ile) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475517]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002644380] |
Chr5:224481 [GRCh38]
Chr5:224596 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.329C>T (p.Ala110Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003042705] |
Chr5:225435 [GRCh38]
Chr5:225550 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002765474] |
Chr5:235304 [GRCh38]
Chr5:235419 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1161C>T (p.Ala387=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003084128] |
Chr5:235240 [GRCh38]
Chr5:235355 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.303T>C (p.Val101=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003025582] |
Chr5:224512 [GRCh38]
Chr5:224627 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+15G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002894395] |
Chr5:226062 [GRCh38]
Chr5:226177 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.582T>C (p.Asp194=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002917946] |
Chr5:226008 [GRCh38]
Chr5:226123 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1781G>T (p.Arg594Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002829535] |
Chr5:251455 [GRCh38]
Chr5:251570 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.474G>A (p.Met158Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003023292] |
Chr5:225900 [GRCh38]
Chr5:226015 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065-17_1065-15dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002891116] |
Chr5:235124..235125 [GRCh38]
Chr5:235239..235240 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.928G>A (p.Gly310Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002663467] |
Chr5:233509 [GRCh38]
Chr5:233624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.770+3A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002876035] |
Chr5:228336 [GRCh38]
Chr5:228451 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002667585] |
Chr5:250992 [GRCh38]
Chr5:251107 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+6G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002872168] |
Chr5:225568 [GRCh38]
Chr5:225683 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1433-2A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002851247] |
Chr5:240356 [GRCh38]
Chr5:240471 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.456+20G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002834306] |
Chr5:225582 [GRCh38]
Chr5:225697 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-1G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002651872]|Paragangliomas 5 [RCV003336806] |
Chr5:225882 [GRCh38]
Chr5:225997 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002647631] |
Chr5:240378 [GRCh38]
Chr5:240493 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.159T>C (p.Ala53=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003065281] |
Chr5:224368 [GRCh38]
Chr5:224483 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1719G>T (p.Leu573=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003090804] |
Chr5:251393 [GRCh38]
Chr5:251508 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.709C>G (p.Leu237Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003274168]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003048559] |
Chr5:228272 [GRCh38]
Chr5:228387 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.447C>A (p.Ala149=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003294401]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003047880] |
Chr5:225553 [GRCh38]
Chr5:225668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1062A>T (p.Gly354=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003048786] |
Chr5:233643 [GRCh38]
Chr5:233758 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.64-17G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003047990] |
Chr5:223465 [GRCh38]
Chr5:223580 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+15C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003089613] |
Chr5:251483 [GRCh38]
Chr5:251598 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.233T>C (p.Phe78Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002922102] |
Chr5:224442 [GRCh38]
Chr5:224557 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1584G>C (p.Val528=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002898920] |
Chr5:251024 [GRCh38]
Chr5:251139 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.250G>C (p.Gly84Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002792033] |
Chr5:224459 [GRCh38]
Chr5:224574 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.896-2del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003046279] |
Chr5:233475 [GRCh38]
Chr5:233590 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.63+4A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002937422] |
Chr5:218422 [GRCh38]
Chr5:218537 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1466_1468del (p.Gly489del) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003046834] |
Chr5:240390..240392 [GRCh38]
Chr5:240505..240507 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-18T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003062782] |
Chr5:224342 [GRCh38]
Chr5:224457 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002877619] |
Chr5:254444 [GRCh38]
Chr5:254559 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.64-2A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002628429] |
Chr5:223480 [GRCh38]
Chr5:223595 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003043996] |
Chr5:236487 [GRCh38]
Chr5:236602 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.341T>A (p.Met114Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003026823] |
Chr5:225447 [GRCh38]
Chr5:225562 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.202G>A (p.Gly68Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003009564] |
Chr5:224411 [GRCh38]
Chr5:224526 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-2A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003086856]|Paragangliomas 5 [RCV003455712] |
Chr5:224358 [GRCh38]
Chr5:224473 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.412G>A (p.Ala138Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002581147] |
Chr5:225518 [GRCh38]
Chr5:225633 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-6T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002857334] |
Chr5:256328 [GRCh38]
Chr5:256443 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.456+4del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002898775] |
Chr5:225566 [GRCh38]
Chr5:225681 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002898874] |
Chr5:233645 [GRCh38]
Chr5:233760 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+23dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003031103] |
Chr5:235357..235358 [GRCh38]
Chr5:235472..235473 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.1584G>T (p.Val528=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002899383] |
Chr5:251024 [GRCh38]
Chr5:251139 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.401G>T (p.Gly134Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003060696] |
Chr5:225507 [GRCh38]
Chr5:225622 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+7C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002811695] |
Chr5:218425 [GRCh38]
Chr5:218540 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-16A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003061561] |
Chr5:224344 [GRCh38]
Chr5:224459 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.200T>C (p.Val67Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002933773] |
Chr5:224409 [GRCh38]
Chr5:224524 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-16G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002857604] |
Chr5:256318 [GRCh38]
Chr5:256433 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002834957] |
Chr5:251415 [GRCh38]
Chr5:251530 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.142T>A (p.Ser48Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003046386] |
Chr5:223560 [GRCh38]
Chr5:223675 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.586A>G (p.Thr196Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002717387] |
Chr5:226012 [GRCh38]
Chr5:226127 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1206C>G (p.Val402=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002598619] |
Chr5:235285 [GRCh38]
Chr5:235400 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002899145] |
Chr5:233569 [GRCh38]
Chr5:233684 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.457-17G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002966140] |
Chr5:225866 [GRCh38]
Chr5:225981 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.621+18C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002770699] |
Chr5:226065 [GRCh38]
Chr5:226180 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002671393] |
Chr5:236533 [GRCh38]
Chr5:236648 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.336G>A (p.Gly112=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003340541]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002857070] |
Chr5:225442 [GRCh38]
Chr5:225557 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1909-9_1909-7del |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002632732] |
Chr5:256321..256323 [GRCh38]
Chr5:256436..256438 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1380G>A (p.Leu460=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003046708] |
Chr5:236547 [GRCh38]
Chr5:236662 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+14T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002602588] |
Chr5:223582 [GRCh38]
Chr5:223697 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-15T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002651051] |
Chr5:225868 [GRCh38]
Chr5:225983 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002876913] |
Chr5:251010 [GRCh38]
Chr5:251125 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.769_770+77del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002966537] |
Chr5:228331..228409 [GRCh38]
Chr5:228446..228524 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.621+20C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002895260] |
Chr5:226067 [GRCh38]
Chr5:226182 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.688G>A (p.Glu230Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308357]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002942789] |
Chr5:228251 [GRCh38]
Chr5:228366 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003050212] |
Chr5:235162 [GRCh38]
Chr5:235277 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+8T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002604008] |
Chr5:235347 [GRCh38]
Chr5:235462 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-8C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002602968] |
Chr5:235136 [GRCh38]
Chr5:235251 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.283C>G (p.Pro95Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003050739] |
Chr5:224492 [GRCh38]
Chr5:224607 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1643A>G (p.His548Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002603351] |
Chr5:251083 [GRCh38]
Chr5:251198 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1909-9C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002584357] |
Chr5:256325 [GRCh38]
Chr5:256440 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.60G>T (p.Lys20Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003308370]|Mitochondrial complex II deficiency, nuclear type 1 [RCV002943742] |
Chr5:218415 [GRCh38]
Chr5:218530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.923C>A (p.Thr308Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003069140] |
Chr5:233504 [GRCh38]
Chr5:233619 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002635034] |
Chr5:251384 [GRCh38]
Chr5:251499 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.743G>C (p.Arg248Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002722133] |
Chr5:228306 [GRCh38]
Chr5:228421 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-17A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002583541] |
Chr5:236411 [GRCh38]
Chr5:236526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.71C>G (p.Thr24Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003049788] |
Chr5:223489 [GRCh38]
Chr5:223604 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065-12_1065-11del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002633507] |
Chr5:235131..235132 [GRCh38]
Chr5:235246..235247 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003092637] |
Chr5:256347 [GRCh38]
Chr5:256462 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1626C>G (p.Leu542=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003052454] |
Chr5:251066 [GRCh38]
Chr5:251181 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.497G>A (p.Gly166Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002609894] |
Chr5:225923 [GRCh38]
Chr5:226038 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+13C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003073033] |
Chr5:218431 [GRCh38]
Chr5:218546 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+16C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002610244] |
Chr5:224537 [GRCh38]
Chr5:224652 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.64-4C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002589961] |
Chr5:223478 [GRCh38]
Chr5:223593 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.872A>G (p.Glu291Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002658108] |
Chr5:230977 [GRCh38]
Chr5:231092 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1009C>T (p.Leu337=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002610974] |
Chr5:233590 [GRCh38]
Chr5:233705 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+12G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003051210] |
Chr5:240488 [GRCh38]
Chr5:240603 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.819T>G (p.Thr273=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002721920] |
Chr5:230924 [GRCh38]
Chr5:231039 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003051544] |
Chr5:240418 [GRCh38]
Chr5:240533 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.530G>T (p.Ser177Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002653811] |
Chr5:225956 [GRCh38]
Chr5:226071 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+11G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003066243] |
Chr5:240487 [GRCh38]
Chr5:240602 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.403del (p.Asp135fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003340601]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003070967]|Paragangliomas 5 [RCV003316881] |
Chr5:225505 [GRCh38]
Chr5:225620 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.415A>G (p.Ile139Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV002653993] |
Chr5:225521 [GRCh38]
Chr5:225636 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1257del (p.Gln420fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003278326] |
Chr5:235333 [GRCh38]
Chr5:235448 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.930A>T (p.Gly310=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177562] |
Chr5:233511 [GRCh38]
Chr5:233626 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.41G>C (p.Arg14Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177573]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779565] |
Chr5:218396 [GRCh38]
Chr5:218511 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.634G>C (p.Asp212His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177582] |
Chr5:228197 [GRCh38]
Chr5:228312 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.427A>C (p.Thr143Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177567] |
Chr5:225533 [GRCh38]
Chr5:225648 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-21_1261-3dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV003177569] |
Chr5:236403..236404 [GRCh38]
Chr5:236518..236519 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.987A>G (p.Arg329=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177571] |
Chr5:233568 [GRCh38]
Chr5:233683 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1940A>C (p.Lys647Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177577] |
Chr5:256365 [GRCh38]
Chr5:256480 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.466del (p.Tyr156fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003177580]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779566] |
Chr5:225891 [GRCh38]
Chr5:226006 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1694_1695insTC (p.Leu566fs) |
insertion |
Hereditary cancer-predisposing syndrome [RCV003177581] |
Chr5:251367..251368 [GRCh38]
Chr5:251482..251483 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1664-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177563] |
Chr5:251333 [GRCh38]
Chr5:251448 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1074C>G (p.Gly358=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177578] |
Chr5:235153 [GRCh38]
Chr5:235268 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.384G>C (p.Lys128Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165116] |
Chr5:225490 [GRCh38]
Chr5:225605 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1916T>C (p.Leu639Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177561] |
Chr5:256341 [GRCh38]
Chr5:256456 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1785delinsCTTCTGGCGCGCATGCCAGG (p.Glu595fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV003177566] |
Chr5:251459 [GRCh38]
Chr5:251574 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.135T>C (p.Ala45=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177570] |
Chr5:223553 [GRCh38]
Chr5:223668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.227C>G (p.Ala76Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177575] |
Chr5:224436 [GRCh38]
Chr5:224551 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.487A>G (p.Thr163Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177579] |
Chr5:225913 [GRCh38]
Chr5:226028 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1714A>G (p.Met572Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003219564] |
Chr5:251388 [GRCh38]
Chr5:251503 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1848G>A (p.Lys616=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003219544]|SDHA-related condition [RCV003946463] |
Chr5:254446 [GRCh38]
Chr5:254561 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.648T>C (p.Phe216=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177565] |
Chr5:228211 [GRCh38]
Chr5:228326 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1290G>C (p.Gln430His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003214730] |
Chr5:236457 [GRCh38]
Chr5:236572 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.30G>C (p.Leu10=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003210338] |
Chr5:218385 [GRCh38]
Chr5:218500 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.929G>A (p.Gly310Glu) |
single nucleotide variant |
not provided [RCV003136533] |
Chr5:233510 [GRCh38]
Chr5:233625 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1351C>G (p.Arg451Gly) |
single nucleotide variant |
not provided [RCV003136534] |
Chr5:236518 [GRCh38]
Chr5:236633 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.128C>T (p.Ala43Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177572]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779564] |
Chr5:223546 [GRCh38]
Chr5:223661 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1426A>G (p.Arg476Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177574] |
Chr5:236593 [GRCh38]
Chr5:236708 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663+3G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177576] |
Chr5:251106 [GRCh38]
Chr5:251221 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1007A>T (p.Asp336Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177560] |
Chr5:233588 [GRCh38]
Chr5:233703 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.622-4T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003177568]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779563] |
Chr5:228181 [GRCh38]
Chr5:228296 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.885C>G (p.Phe295Leu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003475544]|Hereditary cancer-predisposing syndrome [RCV003219587] |
Chr5:230990 [GRCh38]
Chr5:231105 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.326C>G (p.Ala109Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003165114] |
Chr5:225432 [GRCh38]
Chr5:225547 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.970G>T (p.Glu324Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003214791]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779714] |
Chr5:233551 [GRCh38]
Chr5:233666 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1985G>C (p.Arg662Pro) |
single nucleotide variant |
not provided [RCV003318763] |
Chr5:256410 [GRCh38]
Chr5:256525 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1452T>G (p.Ile484Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310435] |
Chr5:240377 [GRCh38]
Chr5:240492 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1901C>T (p.Thr634Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310437] |
Chr5:254499 [GRCh38]
Chr5:254614 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.841A>C (p.Thr281Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310438] |
Chr5:230946 [GRCh38]
Chr5:231061 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310439]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777136] |
Chr5:218358 [GRCh38]
Chr5:218473 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4:c.(1260_1261)_(1432_1433)del |
deletion |
Paragangliomas 5 [RCV003323316] |
|
likely pathogenic |
| NM_004168.4(SDHA):c.1556T>A (p.Met519Lys) |
single nucleotide variant |
not provided [RCV003329779] |
Chr5:250996 [GRCh38]
Chr5:251111 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.265T>C (p.Cys89Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339146] |
Chr5:224474 [GRCh38]
Chr5:224589 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339150]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777487] |
Chr5:235253 [GRCh38]
Chr5:235368 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339151] |
Chr5:218419 [GRCh38]
Chr5:218534 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1980C>G (p.Ala660=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339152] |
Chr5:256405 [GRCh38]
Chr5:256520 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.512G>T (p.Arg171Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339142] |
Chr5:225938 [GRCh38]
Chr5:226053 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.889_891delinsTCC (p.Pro297Ser) |
indel |
Hereditary cancer-predisposing syndrome [RCV003339148] |
Chr5:230994..230996 [GRCh38]
Chr5:231109..231111 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.665T>G (p.Leu222Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339149] |
Chr5:228228 [GRCh38]
Chr5:228343 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.256A>T (p.Asn86Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339138] |
Chr5:224465 [GRCh38]
Chr5:224580 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1126C>G (p.Leu376Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339139] |
Chr5:235205 [GRCh38]
Chr5:235320 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1117C>A (p.Pro373Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339140] |
Chr5:235196 [GRCh38]
Chr5:235311 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1544T>C (p.Met515Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339141] |
Chr5:240469 [GRCh38]
Chr5:240584 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.992_999dup (p.Ala334fs) |
duplication |
Gastrointestinal stromal tumor [RCV003329095] |
Chr5:233572..233573 [GRCh38]
Chr5:233687..233688 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.752A>G (p.Asn251Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339143]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777486] |
Chr5:228315 [GRCh38]
Chr5:228430 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.66G>A (p.Trp22Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339144] |
Chr5:223484 [GRCh38]
Chr5:223599 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1713G>A (p.Leu571=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339145] |
Chr5:251387 [GRCh38]
Chr5:251502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1047G>A (p.Leu349=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003339147] |
Chr5:233628 [GRCh38]
Chr5:233743 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 |
copy number loss |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] |
Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003777423]|Paragangliomas 5 [RCV003337177] |
Chr5:233571 [GRCh38]
Chr5:233686 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1122G>A (p.Glu374=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341995]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003777485] |
Chr5:235201 [GRCh38]
Chr5:235316 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1969del (p.Val657fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003341997] |
Chr5:256394 [GRCh38]
Chr5:256509 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1427G>T (p.Arg476Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003341996] |
Chr5:236594 [GRCh38]
Chr5:236709 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1556T>C (p.Met519Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003343510] |
Chr5:250996 [GRCh38]
Chr5:251111 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.518T>C (p.Phe173Ser) |
single nucleotide variant |
not provided [RCV003332639] |
Chr5:225944 [GRCh38]
Chr5:226059 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.868del (p.Asp289_Leu290insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003369177] |
Chr5:230972 [GRCh38]
Chr5:231087 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1904G>A (p.Gly635Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003352655] |
Chr5:254502 [GRCh38]
Chr5:254617 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+1G>C |
single nucleotide variant |
Paragangliomas 5 [RCV003456337] |
Chr5:218419 [GRCh38]
Chr5:218534 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.244G>T (p.Glu82Ter) |
single nucleotide variant |
Paragangliomas 5 [RCV003456339] |
Chr5:224453 [GRCh38]
Chr5:224568 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1432+2T>G |
single nucleotide variant |
Paragangliomas 5 [RCV003456340] |
Chr5:236601 [GRCh38]
Chr5:236716 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs) |
indel |
Paragangliomas 5 [RCV003456341] |
Chr5:251339..251344 [GRCh38]
Chr5:251454..251459 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1473del (p.Glu491fs) |
deletion |
Paragangliomas 5 [RCV003456345] |
Chr5:240397 [GRCh38]
Chr5:240512 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1664-16_1666del |
deletion |
Paragangliomas 5 [RCV003456344] |
Chr5:251318..251336 [GRCh38]
Chr5:251433..251451 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.723_730dup (p.Ile244fs) |
duplication |
Dilated cardiomyopathy 1GG [RCV003472607] |
Chr5:228284..228285 [GRCh38]
Chr5:228399..228400 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1274T>A (p.Val425Glu) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472621] |
Chr5:236441 [GRCh38]
Chr5:236556 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-219A>G |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472622] |
Chr5:250773 [GRCh38]
Chr5:250888 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer) |
deletion |
Dilated cardiomyopathy 1GG [RCV003472627]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779110]|not provided [RCV003738473] |
Chr5:224377 [GRCh38]
Chr5:224492 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 |
copy number loss |
not provided [RCV003485447] |
Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| NM_004168.4(SDHA):c.224G>C (p.Arg75Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003791116] |
Chr5:224433 [GRCh38]
Chr5:224548 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 |
copy number loss |
not provided [RCV003485448] |
Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 |
copy number loss |
not provided [RCV003485450] |
Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_004168.4(SDHA):c.150+18G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003781987] |
Chr5:223586 [GRCh38]
Chr5:223701 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1497G>C (p.Leu499Phe) |
single nucleotide variant |
not provided [RCV003477369] |
Chr5:240422 [GRCh38]
Chr5:240537 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1729C>T (p.Gln577Ter) |
single nucleotide variant |
not provided [RCV003477370] |
Chr5:251403 [GRCh38]
Chr5:251518 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.99dup (p.His34fs) |
duplication |
Paragangliomas 5 [RCV003452617] |
Chr5:223513..223514 [GRCh38]
Chr5:223628..223629 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 |
copy number loss |
not provided [RCV003485449] |
Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_004168.4(SDHA):c.63+16G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003781618] |
Chr5:218434 [GRCh38]
Chr5:218549 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472605]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779106] |
Chr5:240369 [GRCh38]
Chr5:240484 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.623C>T (p.Ser208Phe) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472618] |
Chr5:228186 [GRCh38]
Chr5:228301 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472623]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779109] |
Chr5:235178 [GRCh38]
Chr5:235293 [GRCh37]
Chr5:5p15.33 |
pathogenic|likely pathogenic |
| NM_004168.4(SDHA):c.1188_1195del (p.Lys397fs) |
deletion |
Dilated cardiomyopathy 1GG [RCV003472626] |
Chr5:235266..235273 [GRCh38]
Chr5:235381..235388 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1995A>G (p.Ter665Trp) |
single nucleotide variant |
not provided [RCV003477371] |
Chr5:256420 [GRCh38]
Chr5:256535 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1159_1162del (p.Thr386_Ala387insTer) |
deletion |
Dilated cardiomyopathy 1GG [RCV003472611] |
Chr5:235236..235239 [GRCh38]
Chr5:235351..235354 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472619]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779108] |
Chr5:256407 [GRCh38]
Chr5:256522 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.668dup (p.Asp223fs) |
duplication |
Dilated cardiomyopathy 1GG [RCV003472625] |
Chr5:228230..228231 [GRCh38]
Chr5:228345..228346 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 |
copy number gain |
not provided [RCV003484599] |
Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_004168.4(SDHA):c.1186A>C (p.Thr396Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472612] |
Chr5:235265 [GRCh38]
Chr5:235380 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.584G>C (p.Arg195Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472613] |
Chr5:226010 [GRCh38]
Chr5:226125 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.637A>G (p.Thr213Ala) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472614]|Mitochondrial complex II deficiency, nuclear type 1 [RCV003779107] |
Chr5:228200 [GRCh38]
Chr5:228315 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1232del (p.Gly411fs) |
deletion |
Dilated cardiomyopathy 1GG [RCV003472629] |
Chr5:235309 [GRCh38]
Chr5:235424 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1260+1G>T |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472624] |
Chr5:235340 [GRCh38]
Chr5:235455 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.407A>G (p.Gln136Arg) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472608] |
Chr5:225513 [GRCh38]
Chr5:225628 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1915_1916del (p.Leu639fs) |
microsatellite |
Dilated cardiomyopathy 1GG [RCV003472609] |
Chr5:256338..256339 [GRCh38]
Chr5:256453..256454 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.854T>C (p.Leu285Pro) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472610] |
Chr5:230959 [GRCh38]
Chr5:231074 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1331C>A (p.Ala444Asp) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472606] |
Chr5:236498 [GRCh38]
Chr5:236613 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1908+176A>T |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472615] |
Chr5:254682 [GRCh38]
Chr5:254797 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.49G>T (p.Ala17Ser) |
single nucleotide variant |
Dilated cardiomyopathy 1GG [RCV003472616] |
Chr5:218404 [GRCh38]
Chr5:218519 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs) |
indel |
Paragangliomas 5 [RCV003456346] |
Chr5:218410..218412 [GRCh38]
Chr5:218525..218527 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003778271]|SDHA-related condition [RCV003400263] |
Chr5:251456 [GRCh38]
Chr5:251571 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:225534-240591)x3 |
copy number gain |
not provided [RCV003430061] |
Chr5:225534..240591 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NC_000005.10:g.263387C>T |
single nucleotide variant |
not provided [RCV003435234] |
Chr5:263387 [GRCh38]
Chr5:263502 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.-28_-20dup |
duplication |
Paragangliomas 5 [RCV003450576] |
Chr5:218320..218321 [GRCh38]
Chr5:218435..218436 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.987A>T (p.Arg329=) |
single nucleotide variant |
not provided [RCV003436357] |
Chr5:233568 [GRCh38]
Chr5:233683 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.622-13T>C |
single nucleotide variant |
not provided [RCV003436356] |
Chr5:228172 [GRCh38]
Chr5:228287 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.10:g.263399G>A |
single nucleotide variant |
not provided [RCV003436358] |
Chr5:263399 [GRCh38]
Chr5:263514 [GRCh37]
Chr5:5p15.33 |
benign |
| NM_004168.4(SDHA):c.249A>C (p.Ala83=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797450] |
Chr5:224458 [GRCh38]
Chr5:224573 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys) |
inversion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003786769] |
Chr5:225477..225478 [GRCh38]
Chr5:225592..225593 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797605] |
Chr5:236583 [GRCh38]
Chr5:236698 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.115G>A (p.Gly39Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797762] |
Chr5:223533 [GRCh38]
Chr5:223648 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795205] |
Chr5:235304 [GRCh38]
Chr5:235419 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797726] |
Chr5:225932 [GRCh38]
Chr5:226047 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1664-3C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797846] |
Chr5:251335 [GRCh38]
Chr5:251450 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003793842] |
Chr5:235254 [GRCh38]
Chr5:235369 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1204G>A (p.Val402Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785985] |
Chr5:235283 [GRCh38]
Chr5:235398 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.263C>A (p.Ala88Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003807946] |
Chr5:224472 [GRCh38]
Chr5:224587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.988dup (p.Tyr330fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795062] |
Chr5:233568..233569 [GRCh38]
Chr5:233683..233684 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1368G>T (p.Ser456=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797495] |
Chr5:236535 [GRCh38]
Chr5:236650 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805624] |
Chr5:256383 [GRCh38]
Chr5:256498 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.539T>C (p.Phe180Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785370] |
Chr5:225965 [GRCh38]
Chr5:226080 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.621+3A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003786352] |
Chr5:226050 [GRCh38]
Chr5:226165 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1670T>C (p.Val557Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003807850] |
Chr5:251344 [GRCh38]
Chr5:251459 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-10del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805755] |
Chr5:236417 [GRCh38]
Chr5:236532 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1663+16G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003794489] |
Chr5:251119 [GRCh38]
Chr5:251234 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-13T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003791900] |
Chr5:240345 [GRCh38]
Chr5:240460 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.210A>G (p.Gly70=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785423] |
Chr5:224419 [GRCh38]
Chr5:224534 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.150+21_150+25del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003796807] |
Chr5:223587..223591 [GRCh38]
Chr5:223702..223706 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.377C>T (p.Thr126Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785517] |
Chr5:225483 [GRCh38]
Chr5:225598 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+17G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785716] |
Chr5:218435 [GRCh38]
Chr5:218550 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-19T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785835] |
Chr5:235125 [GRCh38]
Chr5:235240 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-14C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797432] |
Chr5:236414 [GRCh38]
Chr5:236529 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.727T>C (p.Ser243Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804465] |
Chr5:228290 [GRCh38]
Chr5:228405 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663+16G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805136] |
Chr5:251119 [GRCh38]
Chr5:251234 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-10T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003792121] |
Chr5:225873 [GRCh38]
Chr5:225988 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1908+16G>C |
single nucleotide variant |
not specified [RCV003494283] |
Chr5:254522 [GRCh38]
Chr5:254637 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805201] |
Chr5:235193 [GRCh38]
Chr5:235308 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003794445] |
Chr5:226040 [GRCh38]
Chr5:226155 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1386C>G (p.Val462=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805906] |
Chr5:236553 [GRCh38]
Chr5:236668 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.604C>G (p.His202Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003788309] |
Chr5:226030 [GRCh38]
Chr5:226145 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804772] |
Chr5:233618 [GRCh38]
Chr5:233733 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.771-5T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784279] |
Chr5:230871 [GRCh38]
Chr5:230986 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.928G>C (p.Gly310Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003791257] |
Chr5:233509 [GRCh38]
Chr5:233624 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.193G>T (p.Val65Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805466] |
Chr5:224402 [GRCh38]
Chr5:224517 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795255] |
Chr5:240364 [GRCh38]
Chr5:240479 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.368T>G (p.Phe123Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003806019] |
Chr5:225474 [GRCh38]
Chr5:225589 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.457-11A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784421] |
Chr5:225872 [GRCh38]
Chr5:225987 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.336del (p.Asn113fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003789791] |
Chr5:225439 [GRCh38]
Chr5:225554 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1477_1478del (p.Val493fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003792403] |
Chr5:240401..240402 [GRCh38]
Chr5:240516..240517 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.161A>G (p.Gln54Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003793184] |
Chr5:224370 [GRCh38]
Chr5:224485 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784526] |
Chr5:251064 [GRCh38]
Chr5:251179 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1105C>G (p.His369Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784991] |
Chr5:235184 [GRCh38]
Chr5:235299 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003789171] |
Chr5:251416 [GRCh38]
Chr5:251531 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-4A>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003806313] |
Chr5:250988 [GRCh38]
Chr5:251103 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1065-12C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785244] |
Chr5:235132 [GRCh38]
Chr5:235247 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.622-4T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787003] |
Chr5:228181 [GRCh38]
Chr5:228296 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.304G>C (p.Ala102Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003783019] |
Chr5:224513 [GRCh38]
Chr5:224628 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1270C>T (p.His424Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804795] |
Chr5:236437 [GRCh38]
Chr5:236552 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1344T>A (p.Gly448=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784290] |
Chr5:236511 [GRCh38]
Chr5:236626 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805781] |
Chr5:233614 [GRCh38]
Chr5:233729 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003791628] |
Chr5:235157 [GRCh38]
Chr5:235272 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1663+12G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003786396] |
Chr5:251115 [GRCh38]
Chr5:251230 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1669G>A (p.Val557Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003806385] |
Chr5:251343 [GRCh38]
Chr5:251458 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003786259] |
Chr5:256371 [GRCh38]
Chr5:256486 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312+19A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787884] |
Chr5:224540 [GRCh38]
Chr5:224655 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg) |
inversion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003780693] |
Chr5:228247..228248 [GRCh38]
Chr5:228362..228363 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1794+4G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003790601] |
Chr5:251472 [GRCh38]
Chr5:251587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1359G>A (p.Gly453=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787942] |
Chr5:236526 [GRCh38]
Chr5:236641 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1986C>T (p.Arg662=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784429] |
Chr5:256411 [GRCh38]
Chr5:256526 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.63+3G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003794764] |
Chr5:218421 [GRCh38]
Chr5:218536 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1938C>T (p.Asp646=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003782491] |
Chr5:256363 [GRCh38]
Chr5:256478 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.922A>G (p.Thr308Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805769] |
Chr5:233503 [GRCh38]
Chr5:233618 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1101G>C (p.Gln367His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784722] |
Chr5:235180 [GRCh38]
Chr5:235295 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785169] |
Chr5:225893 [GRCh38]
Chr5:226008 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-6T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795522] |
Chr5:224354 [GRCh38]
Chr5:224469 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.130T>A (p.Ser44Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003780028] |
Chr5:223548 [GRCh38]
Chr5:223663 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.312+12G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804828] |
Chr5:224533 [GRCh38]
Chr5:224648 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003806603] |
Chr5:236591 [GRCh38]
Chr5:236706 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.779G>A (p.Gly260Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003784803] |
Chr5:230884 [GRCh38]
Chr5:230999 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064+6T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785305] |
Chr5:233651 [GRCh38]
Chr5:233766 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003807033] |
Chr5:251461..251463 [GRCh38]
Chr5:251576..251578 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003793110] |
Chr5:251002 [GRCh38]
Chr5:251117 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.217G>A (p.Gly73Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003790155] |
Chr5:224426 [GRCh38]
Chr5:224541 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.780G>A (p.Gly260=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805867] |
Chr5:230885 [GRCh38]
Chr5:231000 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.536A>G (p.Lys179Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003807056] |
Chr5:225962 [GRCh38]
Chr5:226077 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.116G>T (p.Gly39Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003788828] |
Chr5:223534 [GRCh38]
Chr5:223649 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003794739] |
Chr5:251048 [GRCh38]
Chr5:251163 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.52C>T (p.Leu18=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795687] |
Chr5:218407 [GRCh38]
Chr5:218522 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785384] |
Chr5:235327 [GRCh38]
Chr5:235442 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.64-12C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805946] |
Chr5:223470 [GRCh38]
Chr5:223585 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-17A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787463] |
Chr5:250975 [GRCh38]
Chr5:251090 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003780392] |
Chr5:251412 [GRCh38]
Chr5:251527 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805076] |
Chr5:236497 [GRCh38]
Chr5:236612 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.313-12del |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003806399] |
Chr5:225406 [GRCh38]
Chr5:225521 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.758TTG[1] (p.Val254del) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003806416] |
Chr5:228319..228321 [GRCh38]
Chr5:228434..228436 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787171] |
Chr5:235199 [GRCh38]
Chr5:235314 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.412G>T (p.Ala138Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795805] |
Chr5:225518 [GRCh38]
Chr5:225633 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1569T>A (p.Ala523=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787529] |
Chr5:251009 [GRCh38]
Chr5:251124 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1909-19A>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003788364] |
Chr5:256315 [GRCh38]
Chr5:256430 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.111T>C (p.Val37=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805619] |
Chr5:223529 [GRCh38]
Chr5:223644 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.470G>T (p.Gly157Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805623] |
Chr5:225896 [GRCh38]
Chr5:226011 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+18C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003796923] |
Chr5:225580 [GRCh38]
Chr5:225695 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.920T>C (p.Ile307Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805170] |
Chr5:233501 [GRCh38]
Chr5:233616 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.895+4G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805640] |
Chr5:231004 [GRCh38]
Chr5:231119 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1933A>G (p.Ile645Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003792372] |
Chr5:256358 [GRCh38]
Chr5:256473 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1260+13G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003794492] |
Chr5:235352 [GRCh38]
Chr5:235467 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1794+6_1794+7dup |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804731] |
Chr5:251473..251474 [GRCh38]
Chr5:251588..251589 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.813C>A (p.Thr271=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795417] |
Chr5:230918 [GRCh38]
Chr5:231033 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.11T>A (p.Val4Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805691] |
Chr5:218366 [GRCh38]
Chr5:218481 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1707G>C (p.Gln569His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795896] |
Chr5:251381 [GRCh38]
Chr5:251496 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.15G>C (p.Arg5=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003796710] |
Chr5:218370 [GRCh38]
Chr5:218485 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.50C>A (p.Ala17Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003792472] |
Chr5:218405 [GRCh38]
Chr5:218520 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1433-11T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003780597] |
Chr5:240347 [GRCh38]
Chr5:240462 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1433-10T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003794516] |
Chr5:240348 [GRCh38]
Chr5:240463 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.158C>G (p.Ala53Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804752] |
Chr5:224367 [GRCh38]
Chr5:224482 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-18T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003805695] |
Chr5:250974 [GRCh38]
Chr5:251089 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.457-3C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003795907] |
Chr5:225880 [GRCh38]
Chr5:225995 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+3A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003785629] |
Chr5:236602 [GRCh38]
Chr5:236717 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.621+12C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003807195] |
Chr5:226059 [GRCh38]
Chr5:226174 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs) |
microsatellite |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003807196] |
Chr5:233624..233625 [GRCh38]
Chr5:233739..233740 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.456+11G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003793557] |
Chr5:225573 [GRCh38]
Chr5:225688 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.989dup (p.Tyr330Ter) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003781726] |
Chr5:233569..233570 [GRCh38]
Chr5:233684..233685 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003793161] |
Chr5:251380 [GRCh38]
Chr5:251495 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.418C>T (p.His140Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003788332] |
Chr5:225524 [GRCh38]
Chr5:225639 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003782470] |
Chr5:240391 [GRCh38]
Chr5:240506 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1671C>G (p.Val557=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804619] |
Chr5:251345 [GRCh38]
Chr5:251460 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-6_1261-5insGAA |
insertion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003781937] |
Chr5:236422..236423 [GRCh38]
Chr5:236537..236538 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003788876] |
Chr5:233594 [GRCh38]
Chr5:233709 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1794+7C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003781990] |
Chr5:251475 [GRCh38]
Chr5:251590 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1261-11C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003780829] |
Chr5:236417 [GRCh38]
Chr5:236532 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.308C>T (p.Ala103Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003792863] |
Chr5:224517 [GRCh38]
Chr5:224632 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1787A>T (p.Asp596Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003783044] |
Chr5:251461 [GRCh38]
Chr5:251576 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.711G>T (p.Leu237=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003792306] |
Chr5:228274 [GRCh38]
Chr5:228389 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1551+14C>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003780672] |
Chr5:240490 [GRCh38]
Chr5:240605 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003793370] |
Chr5:251101 [GRCh38]
Chr5:251216 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.64-16T>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003794134] |
Chr5:223466 [GRCh38]
Chr5:223581 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065-13T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003793384] |
Chr5:235131 [GRCh38]
Chr5:235246 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003780163] |
Chr5:228219 [GRCh38]
Chr5:228334 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+11T>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787883] |
Chr5:236610 [GRCh38]
Chr5:236725 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.312+19A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003792537] |
Chr5:224540 [GRCh38]
Chr5:224655 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.31C>T (p.Leu11=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003790557] |
Chr5:218386 [GRCh38]
Chr5:218501 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1552-1G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804395] |
Chr5:250991 [GRCh38]
Chr5:251106 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1059A>G (p.Glu353=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003787948] |
Chr5:233640 [GRCh38]
Chr5:233755 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.896-2A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003783221] |
Chr5:233475 [GRCh38]
Chr5:233590 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003804273] |
Chr5:235159 [GRCh38]
Chr5:235274 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065-11T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003788063] |
Chr5:235133 [GRCh38]
Chr5:235248 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.943G>T (p.Gly315Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003779416] |
Chr5:233524 [GRCh38]
Chr5:233639 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003813252] |
Chr5:251029 [GRCh38]
Chr5:251144 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812582] |
Chr5:251430 [GRCh38]
Chr5:251545 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.681G>T (p.Glu227Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809354] |
Chr5:228244 [GRCh38]
Chr5:228359 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1384G>A (p.Val462Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003808204] |
Chr5:236551 [GRCh38]
Chr5:236666 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1160C>T (p.Ala387Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003798141] |
Chr5:235239 [GRCh38]
Chr5:235354 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1990T>C (p.Tyr664His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800217] |
Chr5:256415 [GRCh38]
Chr5:256530 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.456+7G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003810518] |
Chr5:225569 [GRCh38]
Chr5:225684 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1027G>T (p.Val343Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003810528] |
Chr5:233608 [GRCh38]
Chr5:233723 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.63+15C>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003808470] |
Chr5:218433 [GRCh38]
Chr5:218548 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1354del (p.Leu452fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003810561] |
Chr5:236520 [GRCh38]
Chr5:236635 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1432+20G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809537] |
Chr5:236619 [GRCh38]
Chr5:236734 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800555] |
Chr5:240361 [GRCh38]
Chr5:240476 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.949A>G (p.Ile317Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812283] |
Chr5:233530 [GRCh38]
Chr5:233645 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.150+14T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003813090] |
Chr5:223582 [GRCh38]
Chr5:223697 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.611T>C (p.Leu204Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809882] |
Chr5:226037 [GRCh38]
Chr5:226152 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.192A>G (p.Ala64=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812474] |
Chr5:224401 [GRCh38]
Chr5:224516 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.514_517dup (p.Phe173fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812517] |
Chr5:225938..225939 [GRCh38]
Chr5:226053..226054 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1794+4G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800846] |
Chr5:251472 [GRCh38]
Chr5:251587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064+9G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809954] |
Chr5:233654 [GRCh38]
Chr5:233769 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.38C>A (p.Ala13Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003801877] |
Chr5:218393 [GRCh38]
Chr5:218508 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.450G>C (p.Val150=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003815208] |
Chr5:225556 [GRCh38]
Chr5:225671 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003815244] |
Chr5:228197..228199 [GRCh38]
Chr5:228312..228314 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1091T>C (p.Val364Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003797888] |
Chr5:235170 [GRCh38]
Chr5:235285 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003810260] |
Chr5:235290 [GRCh38]
Chr5:235405 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003801714] |
Chr5:235316 [GRCh38]
Chr5:235431 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1261-16A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003810285] |
Chr5:236412 [GRCh38]
Chr5:236527 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800071] |
Chr5:256343 [GRCh38]
Chr5:256458 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1190A>T (p.Lys397Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003808795] |
Chr5:235269 [GRCh38]
Chr5:235384 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.895+2T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003798053] |
Chr5:231002 [GRCh38]
Chr5:231117 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.431A>C (p.Glu144Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003801438] |
Chr5:225537 [GRCh38]
Chr5:225652 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1286A>T (p.Asp429Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003801746] |
Chr5:236453 [GRCh38]
Chr5:236568 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003798685] |
Chr5:251383 [GRCh38]
Chr5:251498 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1064+2T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003801944] |
Chr5:233647 [GRCh38]
Chr5:233762 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.622-7C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003799289] |
Chr5:228178 [GRCh38]
Chr5:228293 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.464del (p.Asn155fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003808947]|SDHA-related condition [RCV003966681] |
Chr5:225887 [GRCh38]
Chr5:226002 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800499] |
Chr5:251454 [GRCh38]
Chr5:251569 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.842C>T (p.Thr281Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003817951] |
Chr5:230947 [GRCh38]
Chr5:231062 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1229T>G (p.Met410Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003808236] |
Chr5:235308 [GRCh38]
Chr5:235423 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1552-10T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003808249] |
Chr5:250982 [GRCh38]
Chr5:251097 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003813170] |
Chr5:235273 [GRCh38]
Chr5:235388 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1436A>T (p.Asp479Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003817718] |
Chr5:240361 [GRCh38]
Chr5:240476 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003801534] |
Chr5:233624 [GRCh38]
Chr5:233739 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.845G>A (p.Arg282Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800672] |
Chr5:230950 [GRCh38]
Chr5:231065 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.580G>A (p.Asp194Asn) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812551] |
Chr5:226006 [GRCh38]
Chr5:226121 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.351del (p.Asp117fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800938] |
Chr5:225457 [GRCh38]
Chr5:225572 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1335G>C (p.Ser445=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003813300] |
Chr5:236502 [GRCh38]
Chr5:236617 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003813492] |
Chr5:240363 [GRCh38]
Chr5:240478 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1526del (p.Ser509fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800981] |
Chr5:240451 [GRCh38]
Chr5:240566 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1552-2591A>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812259] |
Chr5:248401 [GRCh38]
Chr5:248516 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.1956T>C (p.Ala652=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003815326] |
Chr5:256381 [GRCh38]
Chr5:256496 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.666G>A (p.Leu222=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003815364] |
Chr5:228229 [GRCh38]
Chr5:228344 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800054] |
Chr5:236480 [GRCh38]
Chr5:236595 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.37G>A (p.Ala13Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812454] |
Chr5:218392 [GRCh38]
Chr5:218507 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003798040] |
Chr5:240472 [GRCh38]
Chr5:240587 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.837G>A (p.Met279Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003799695] |
Chr5:230942 [GRCh38]
Chr5:231057 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812535] |
Chr5:251003 [GRCh38]
Chr5:251118 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.181G>C (p.Glu61Gln) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809930] |
Chr5:224390 [GRCh38]
Chr5:224505 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1396del (p.Ala466fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800937] |
Chr5:236561 [GRCh38]
Chr5:236676 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.726G>T (p.Gly242=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003812811] |
Chr5:228289 [GRCh38]
Chr5:228404 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003800322] |
Chr5:251010 [GRCh38]
Chr5:251125 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.64-8G>T |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003799955] |
Chr5:223474 [GRCh38]
Chr5:223589 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809182] |
Chr5:236449 [GRCh38]
Chr5:236564 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1964C>T (p.Ala655Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809227] |
Chr5:256389 [GRCh38]
Chr5:256504 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.946G>A (p.Gly316Ser) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003798549] |
Chr5:233527 [GRCh38]
Chr5:233642 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.957T>A (p.Ile319=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003808228] |
Chr5:233538 [GRCh38]
Chr5:233653 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.347A>G (p.Glu116Gly) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003813555] |
Chr5:225453 [GRCh38]
Chr5:225568 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1125G>T (p.Gln375His) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003809467] |
Chr5:235204 [GRCh38]
Chr5:235319 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.483C>G (p.Ser161Arg) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003815460] |
Chr5:225909 [GRCh38]
Chr5:226024 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1551+16C>G |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802413] |
Chr5:240492 [GRCh38]
Chr5:240607 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.1441G>A (p.Val481Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802222] |
Chr5:240366 [GRCh38]
Chr5:240481 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.54G>A (p.Leu18=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803440] |
Chr5:218409 [GRCh38]
Chr5:218524 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.954del (p.Ile319fs) |
deletion |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802524] |
Chr5:233535 [GRCh38]
Chr5:233650 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.97T>C (p.Phe33Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802654] |
Chr5:223515 [GRCh38]
Chr5:223630 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1106A>T (p.His369Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803213] |
Chr5:235185 [GRCh38]
Chr5:235300 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.976T>C (p.Phe326Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802332] |
Chr5:233557 [GRCh38]
Chr5:233672 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1557G>A (p.Met519Ile) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803255] |
Chr5:250997 [GRCh38]
Chr5:251112 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.151-8T>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803124] |
Chr5:224352 [GRCh38]
Chr5:224467 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.114T>G (p.Asp38Glu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803261] |
Chr5:223532 [GRCh38]
Chr5:223647 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802090] |
Chr5:256400 [GRCh38]
Chr5:256515 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 |
copy number loss |
not specified [RCV003986544] |
Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_004168.4(SDHA):c.1746A>T (p.Ala582=) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803951] |
Chr5:251420 [GRCh38]
Chr5:251535 [GRCh37]
Chr5:5p15.33 |
likely benign |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 |
copy number loss |
not specified [RCV003986560] |
Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 |
copy number loss |
not specified [RCV003986593] |
Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1 |
copy number loss |
not specified [RCV003986597] |
Chr5:113576..7436985 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_004168.4(SDHA):c.1024G>A (p.Val342Met) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802922] |
Chr5:233605 [GRCh38]
Chr5:233720 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33(chr5:113576-3612214)x1 |
copy number loss |
not specified [RCV003986564] |
Chr5:113576..3612214 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 |
copy number loss |
not specified [RCV003986589] |
Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33(chr5:113576-676873)x3 |
copy number gain |
not specified [RCV003986592] |
Chr5:113576..676873 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 |
copy number loss |
not specified [RCV003986599] |
Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met) |
indel |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802435] |
Chr5:235271..235272 [GRCh38]
Chr5:235386..235387 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.304dup (p.Ala102fs) |
duplication |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803353] |
Chr5:224512..224513 [GRCh38]
Chr5:224627..224628 [GRCh37]
Chr5:5p15.33 |
pathogenic |
| NM_004168.4(SDHA):c.410A>T (p.Asp137Val) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803194] |
Chr5:225516 [GRCh38]
Chr5:225631 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803300] |
Chr5:230896 [GRCh38]
Chr5:231011 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1039A>C (p.Met347Leu) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003803416] |
Chr5:233620 [GRCh38]
Chr5:233735 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1065-18G>C |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802329] |
Chr5:235126 [GRCh38]
Chr5:235241 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NM_004168.4(SDHA):c.986G>C (p.Arg329Pro) |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802299] |
Chr5:233567 [GRCh38]
Chr5:233682 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.1432+1G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802527] |
Chr5:236600 [GRCh38]
Chr5:236715 [GRCh37]
Chr5:5p15.33 |
likely pathogenic |
| NM_004168.4(SDHA):c.1064+7G>A |
single nucleotide variant |
Mitochondrial complex II deficiency, nuclear type 1 [RCV003802753] |
Chr5:233652 [GRCh38]
Chr5:233767 [GRCh37]
Chr5:5p15.33 |
likely benign |
| NC_000005.9:g.(?_218434)_(257198_?)dup |
duplication |
not specified [RCV003988370] |
Chr5:218434..257198 [GRCh37]
Chr5:5p15.33 |
uncertain significance |
| NM_004168.4(SDHA):c.*9G>C |
single nucleotide variant |
SDHA-related condition [RCV003959592] |
Chr5:256429 [GRCh38]
Chr5:256544 [GRCh37]
Chr5:5p15.33 |
likely benign |
