NM_003172.4(SURF1):c.879C>T (p.Phe293=) |
single nucleotide variant |
Leigh syndrome [RCV000549524]|SURF1-related disorder [RCV004554795]|not provided [RCV001566842] |
Chr9:133351937 [GRCh38] Chr9:136218792 [GRCh37] Chr9:9q34.2 |
likely benign |
SURF1, 765C-T |
single nucleotide variant |
Mitochondrial complex IV deficiency [RCV000013594] |
Chr9:9q34 |
pathogenic |
NM_003172.4(SURF1):c.323+2T>C |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013595] |
Chr9:133354657 [GRCh38] Chr9:136221512 [GRCh37] Chr9:9q34.2 |
pathogenic |
SURF1, 2-BP INS/10-BP DEL, NT326 |
indel |
Congenital myasthenic syndrome, acetazolamide-responsive [RCV000013596]|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000013596] |
Chr9:9q34 |
pathogenic |
SURF1, 2-BP DEL, 855CT |
deletion |
Cytochrome-c oxidase deficiency disease [RCV000013597] |
Chr9:9q34 |
pathogenic |
SURF1, 1-BP INS, 882T |
insertion |
Cytochrome-c oxidase deficiency disease [RCV000013598] |
Chr9:9q34 |
pathogenic |
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) |
single nucleotide variant |
Leigh syndrome [RCV000589222]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013599]|Mitochondrial disease [RCV003314553]|not provided [RCV000599426] |
Chr9:133352446 [GRCh38] Chr9:136219301 [GRCh37] Chr9:9q34.2 |
pathogenic |
SURF1, 1-BP INS, 868T |
insertion |
Cytochrome-c oxidase deficiency disease [RCV000013600] |
Chr9:9q34 |
pathogenic |
NM_003172.4(SURF1):c.515+2T>G |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013601] |
Chr9:133353747 [GRCh38] Chr9:136220602 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.550_551del (p.Arg184fs) |
deletion |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013602] |
Chr9:133352731..133352732 [GRCh38] Chr9:136219586..136219587 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.820T>G (p.Tyr274Asp) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013603]|not provided [RCV004799742] |
Chr9:133352074 [GRCh38] Chr9:136218929 [GRCh37] Chr9:9q34.2 |
pathogenic |
SURF1, 2-BP DEL, 790AG |
deletion |
Congenital myasthenic syndrome, acetazolamide-responsive [RCV000013604]|Cytochrome-c oxidase deficiency [RCV000013605]|Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency [RCV000013605]|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000013604] |
Chr9:9q34 |
pathogenic |
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) |
single nucleotide variant |
Leigh syndrome [RCV001851829]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013606] |
Chr9:133353893 [GRCh38] Chr9:136220748 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.574_575insCTCC (p.Arg192fs) |
insertion |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013607] |
Chr9:133352707..133352708 [GRCh38] Chr9:136219562..136219563 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) |
microsatellite |
Cerebellar ataxia [RCV000626844]|Inborn genetic diseases [RCV000624533]|Leigh syndrome [RCV000331329]|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000500935]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013608]|SURF1-related disorder [RCV004554601]|See cases [RCV002251902]|not provided [RCV000197896] |
Chr9:133351970..133351971 [GRCh38] Chr9:136218825..136218826 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) |
duplication |
Leigh syndrome [RCV000543189] |
Chr9:133356415..133356416 [GRCh38] Chr9:136223291..136223292 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.679T>C (p.Trp227Arg) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV000022780] |
Chr9:133352518 [GRCh38] Chr9:136219373 [GRCh37] Chr9:135209194 [NCBI36] Chr9:9q34.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 |
copy number gain |
See cases [RCV000051040] |
Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 |
copy number gain |
See cases [RCV000051009] |
Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 |
copy number gain |
See cases [RCV000053779] |
Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] |
Chr9:131406683..133852779 [GRCh38] Chr9:134282070..136717901 [GRCh37] Chr9:133271891..135707722 [NCBI36] Chr9:9q34.13-34.2 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] |
Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) |
duplication |
Charcot-Marie-Tooth disease type 4K [RCV000662036]|Leigh syndrome [RCV000662037]|not provided [RCV001090695] |
Chr9:133352079..133352080 [GRCh38] Chr9:136218934..136218935 [GRCh37] Chr9:9q34.2 |
pathogenic|uncertain significance |
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) |
single nucleotide variant |
Leigh syndrome [RCV001080443]|not provided [RCV000424363]|not specified [RCV001844045] |
Chr9:133354897 [GRCh38] Chr9:136221752 [GRCh37] Chr9:9q34.2 |
benign|likely benign |
NM_003172.4(SURF1):c.280T>C (p.Leu94=) |
single nucleotide variant |
Leigh syndrome [RCV000359434]|not provided [RCV000676734]|not specified [RCV000128340] |
Chr9:133354702 [GRCh38] Chr9:136221557 [GRCh37] Chr9:9q34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003172.4(SURF1):c.573C>G (p.Thr191=) |
single nucleotide variant |
Leigh syndrome [RCV000298807]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002492492]|not provided [RCV000676733]|not specified [RCV000128341] |
Chr9:133352709 [GRCh38] Chr9:136219564 [GRCh37] Chr9:9q34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003172.4(SURF1):c.604G>C (p.Asp202His) |
single nucleotide variant |
Leigh syndrome [RCV000394086]|not provided [RCV000999265]|not specified [RCV000128342] |
Chr9:133352593 [GRCh38] Chr9:136219448 [GRCh37] Chr9:9q34.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.751+6T>C |
single nucleotide variant |
Leigh syndrome [RCV001080444]|not provided [RCV000427963]|not specified [RCV000128343] |
Chr9:133352440 [GRCh38] Chr9:136219295 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.2(SURF1):c.-37C>T |
single nucleotide variant |
Leigh syndrome [RCV000286961]|not provided [RCV004718040]|not specified [RCV000128344] |
Chr9:133356490 [GRCh38] Chr9:136223366 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.54+9C>G |
single nucleotide variant |
Leigh syndrome [RCV000383935]|not specified [RCV000128345] |
Chr9:133356391 [GRCh38] Chr9:136223267 [GRCh37] Chr9:9q34.2 |
benign|uncertain significance |
NM_003172.4(SURF1):c.54+10G>A |
single nucleotide variant |
Leigh syndrome [RCV000329138]|not provided [RCV000676736]|not specified [RCV000128346] |
Chr9:133356390 [GRCh38] Chr9:136223266 [GRCh37] Chr9:9q34.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.584G>A (p.Gly195Asp) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110135] |
Chr9:133352698 [GRCh38] Chr9:136219553 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.833+1del |
deletion |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110137] |
Chr9:133352060 [GRCh38] Chr9:136218915 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.549_566del (p.Arg184_Pro189del) |
deletion |
Leigh syndrome [RCV001291661] |
Chr9:133352716..133352733 [GRCh38] Chr9:136219571..136219588 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 |
copy number gain |
See cases [RCV000133778] |
Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 |
copy number gain |
See cases [RCV000134916] |
Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 |
copy number gain |
See cases [RCV000134920] |
Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 |
copy number gain |
See cases [RCV000136790] |
Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 |
copy number gain |
See cases [RCV000142636] |
Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) |
microsatellite |
Charcot-Marie-Tooth disease type 4K [RCV000202439]|Leigh syndrome [RCV001804940]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003389322] |
Chr9:133352094..133352095 [GRCh38] Chr9:136218949..136218950 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.107-2A>G |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4K [RCV000202482]|not provided [RCV001090696] |
Chr9:133354959 [GRCh38] Chr9:136221814 [GRCh37] Chr9:9q34.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.752-1G>C |
single nucleotide variant |
Leigh syndrome [RCV000578241]|not provided [RCV004592782] |
Chr9:133352143 [GRCh38] Chr9:136218998 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.54+34_55-26del |
deletion |
not specified [RCV000200184] |
Chr9:133356346..133356366 [GRCh38] Chr9:136223201..136223221 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) |
single nucleotide variant |
Leigh syndrome [RCV001168010]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002485308]|not provided [RCV000200389] |
Chr9:133353855 [GRCh38] Chr9:136220710 [GRCh37] Chr9:9q34.2 |
likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.543C>T (p.Phe181=) |
single nucleotide variant |
Leigh syndrome [RCV000353708]|not provided [RCV000590784]|not specified [RCV000196556] |
Chr9:133352739 [GRCh38] Chr9:136219594 [GRCh37] Chr9:9q34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004020428]|Leigh syndrome [RCV001168781]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002478693]|not provided [RCV000196614] |
Chr9:133354660 [GRCh38] Chr9:136221515 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.589-1G>T |
single nucleotide variant |
not provided [RCV000200597] |
Chr9:133352609 [GRCh38] Chr9:136219464 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.17C>T (p.Ala6Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002517262]|Leigh syndrome [RCV001853201]|not provided [RCV003225039]|not specified [RCV000196753] |
Chr9:133356437 [GRCh38] Chr9:136223313 [GRCh37] Chr9:9q34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002517263]|Leigh syndrome [RCV001215689]|not provided [RCV000196814]|not specified [RCV002222439] |
Chr9:133352719 [GRCh38] Chr9:136219574 [GRCh37] Chr9:9q34.2 |
likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) |
indel |
Leigh syndrome [RCV000235063]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013596]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002478694]|SURF1-related disorder [RCV004554746]|not provided [RCV000197023] |
Chr9:133354661..133354670 [GRCh38] Chr9:136221516..136221525 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) |
single nucleotide variant |
Leigh syndrome [RCV000699472]|not provided [RCV001699229] |
Chr9:133352452 [GRCh38] Chr9:136219307 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.106+1G>C |
single nucleotide variant |
Leigh syndrome [RCV000196131] |
Chr9:133356268 [GRCh38] Chr9:136223123 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.3(SURF1):c.845_846delCT (p.Ser282Cysfs) |
deletion |
not provided [RCV000197896] |
Chr9:133351970..133351971 [GRCh38] Chr9:136218825..136218826 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.380_382delinsCCT (p.Asp127_His128delinsAlaTyr) |
indel |
not provided [RCV000198114] |
Chr9:133353882..133353884 [GRCh38] Chr9:136220737..136220739 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.324-11T>G |
single nucleotide variant |
Leigh syndrome [RCV003509513]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003152693]|not provided [RCV000198496] |
Chr9:133353951 [GRCh38] Chr9:136220806 [GRCh37] Chr9:9q34.2 |
pathogenic|conflicting interpretations of pathogenicity |
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004020427]|Leigh syndrome [RCV001853202]|not specified [RCV000198640] |
Chr9:133356414 [GRCh38] Chr9:136223290 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) |
microsatellite |
Charcot-Marie-Tooth disease type 4K [RCV001813769]|Inborn genetic diseases [RCV002517264]|Leigh syndrome [RCV000534608]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000013605]|not provided [RCV000198901] |
Chr9:133352101..133352102 [GRCh38] Chr9:136218956..136218957 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) |
deletion |
Leigh syndrome [RCV000258857]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002492908]|not provided [RCV000199102] |
Chr9:133356441..133356464 [GRCh38] Chr9:136223317..136223340 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4K [RCV000202523]|Leigh syndrome [RCV000631410]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002492907]|Mitochondrial disease [RCV003314575]|not provided [RCV000199387] |
Chr9:133352708 [GRCh38] Chr9:136219563 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.889A>C (p.Thr297Pro) |
single nucleotide variant |
Leigh syndrome [RCV002515441]|not specified [RCV000199642] |
Chr9:133351927 [GRCh38] Chr9:136218782 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) |
duplication |
Leigh syndrome [RCV000820421]|not provided [RCV000196024]|not specified [RCV001824677] |
Chr9:133352075..133352076 [GRCh38] Chr9:136218930..136218931 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) |
single nucleotide variant |
Leigh syndrome [RCV000235079]|SURF1-related disorder [RCV004554757]|not provided [RCV000578885] |
Chr9:133352696 [GRCh38] Chr9:136219551 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) |
single nucleotide variant |
Leigh syndrome [RCV000631403]|not provided [RCV000224641] |
Chr9:133353914 [GRCh38] Chr9:136220769 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) |
single nucleotide variant |
Leigh syndrome [RCV000631405]|not provided [RCV000321649] |
Chr9:133352509 [GRCh38] Chr9:136219364 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp) |
single nucleotide variant |
Leigh syndrome [RCV000323407] |
Chr9:133353912 [GRCh38] Chr9:136220767 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.754_755del |
microsatellite |
Leigh syndrome [RCV000312508]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003338577] |
Chr9:133352139..133352140 [GRCh38] Chr9:136218994..136218995 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003168574]|Leigh syndrome [RCV000264670]|not provided [RCV001354540]|not specified [RCV000507001] |
Chr9:133354853 [GRCh38] Chr9:136221708 [GRCh37] Chr9:9q34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) |
single nucleotide variant |
Leigh syndrome [RCV000367139]|not provided [RCV004696119] |
Chr9:133352554 [GRCh38] Chr9:136219409 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.366C>T (p.Val122=) |
single nucleotide variant |
Leigh syndrome [RCV000268062] |
Chr9:133353898 [GRCh38] Chr9:136220753 [GRCh37] Chr9:9q34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.32T>C (p.Leu11Pro) |
single nucleotide variant |
Leigh syndrome [RCV001368059] |
Chr9:133356422 [GRCh38] Chr9:136223298 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.751+4C>T |
single nucleotide variant |
Leigh syndrome [RCV001860017]|not provided [RCV000578903] |
Chr9:133352442 [GRCh38] Chr9:136219297 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) |
duplication |
Inborn genetic diseases [RCV000622343]|Leigh syndrome [RCV003155251]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002248820] |
Chr9:133351945..133351946 [GRCh38] Chr9:136218800..136218801 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.897del (p.Val300fs) |
deletion |
Leigh syndrome [RCV000801485]|not provided [RCV000588103] |
Chr9:133351919 [GRCh38] Chr9:136218774 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.36G>A (p.Arg12=) |
single nucleotide variant |
Leigh syndrome [RCV002061978]|not specified [RCV000588845] |
Chr9:133356418 [GRCh38] Chr9:136223294 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003258856]|Leigh syndrome [RCV000555174] |
Chr9:133354946 [GRCh38] Chr9:136221801 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.54+13TGCGGGG[5] |
microsatellite |
Leigh syndrome [RCV003619697]|not provided [RCV000589405] |
Chr9:133356366..133356367 [GRCh38] Chr9:136223221..136223222 [GRCh37] Chr9:9q34.2 |
benign|likely benign |
NM_003172.4(SURF1):c.240G>C (p.Gln80His) |
single nucleotide variant |
Inborn genetic diseases [RCV000623972] |
Chr9:133354824 [GRCh38] Chr9:136221679 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) |
deletion |
Charcot-Marie-Tooth disease type 4K [RCV003447527]|Leigh syndrome [RCV001290556]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV004584703]|not provided [RCV000414638] |
Chr9:133352747..133352750 [GRCh38] Chr9:136219602..136219605 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.751+5G>A |
single nucleotide variant |
Cerebellar ataxia [RCV000626843]|Leigh syndrome [RCV002523941]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002283477]|not provided [RCV000413105] |
Chr9:133352441 [GRCh38] Chr9:136219296 [GRCh37] Chr9:9q34.2 |
likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) |
microsatellite |
Leigh syndrome [RCV000586290]|Leigh syndrome [RCV002244861]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001849366]|not provided [RCV000413343] |
Chr9:133352135..133352136 [GRCh38] Chr9:136218990..136218991 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.809_810dup (p.His271fs) |
duplication |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003159265] |
Chr9:133352083..133352084 [GRCh38] Chr9:136218938..136218939 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
not specified [RCV003986800] |
Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 |
copy number gain |
See cases [RCV000447080] |
Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3 |
copy number gain |
See cases [RCV000447436] |
Chr9:135797171..136245956 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
NM_003172.4(SURF1):c.107-19G>A |
single nucleotide variant |
Leigh syndrome [RCV002060065]|not specified [RCV000438078] |
Chr9:133354976 [GRCh38] Chr9:136221831 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.834-13T>C |
single nucleotide variant |
Leigh syndrome [RCV002062317]|not provided [RCV001720048] |
Chr9:133351995 [GRCh38] Chr9:136218850 [GRCh37] Chr9:9q34.2 |
benign|likely benign |
NM_003172.4(SURF1):c.657G>A (p.Glu219=) |
single nucleotide variant |
Leigh syndrome [RCV001430493]|not specified [RCV000424891] |
Chr9:133352540 [GRCh38] Chr9:136219395 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+3G>A |
single nucleotide variant |
Leigh syndrome [RCV002522381]|not specified [RCV000428492] |
Chr9:133352058 [GRCh38] Chr9:136218913 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.240+1G>T |
single nucleotide variant |
Leigh syndrome [RCV001260417]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002502493]|not provided [RCV000422985] |
Chr9:133354823 [GRCh38] Chr9:136221678 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.833+13C>T |
single nucleotide variant |
Leigh syndrome [RCV002059896]|not provided [RCV001698183] |
Chr9:133352048 [GRCh38] Chr9:136218903 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) |
single nucleotide variant |
Leigh syndrome [RCV001084113]|SURF1-related disorder [RCV004554772]|not provided [RCV000586110]|not specified [RCV000439404] |
Chr9:133351933 [GRCh38] Chr9:136218788 [GRCh37] Chr9:9q34.2 |
benign|likely benign |
NM_003172.4(SURF1):c.516-8T>C |
single nucleotide variant |
Leigh syndrome [RCV002522551]|not specified [RCV000444166] |
Chr9:133352774 [GRCh38] Chr9:136219629 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.240+9C>T |
single nucleotide variant |
Leigh syndrome [RCV002061535]|not specified [RCV000444395] |
Chr9:133354815 [GRCh38] Chr9:136221670 [GRCh37] Chr9:9q34.2 |
benign|likely benign |
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004022345]|Leigh syndrome [RCV001379593]|not provided [RCV000437222] |
Chr9:133354713 [GRCh38] Chr9:136221568 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.241-7A>C |
single nucleotide variant |
Leigh syndrome [RCV002063430]|not specified [RCV000444496] |
Chr9:133354748 [GRCh38] Chr9:136221603 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.-25G>A |
single nucleotide variant |
not specified [RCV000430770] |
Chr9:133356478 [GRCh38] Chr9:136223354 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.447C>T (p.Gly149=) |
single nucleotide variant |
Leigh syndrome [RCV002063536]|not provided [RCV003422415]|not specified [RCV000444716] |
Chr9:133353817 [GRCh38] Chr9:136220672 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter) |
single nucleotide variant |
Leigh syndrome [RCV003619671]|not provided [RCV000440906] |
Chr9:133352516 [GRCh38] Chr9:136219371 [GRCh37] Chr9:9q34.2 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 |
copy number gain |
See cases [RCV000448784] |
Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
NM_003172.4(SURF1):c.54+9_54+22del |
deletion |
Leigh syndrome [RCV000531800]|not specified [RCV000483880] |
Chr9:133356378..133356391 [GRCh38] Chr9:136223254..136223267 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) |
duplication |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV002489153]|not provided [RCV000484632] |
Chr9:133352071..133352072 [GRCh38] Chr9:136218926..136218927 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) |
insertion |
Leigh syndrome [RCV001193160]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002272252]|not provided [RCV000478177] |
Chr9:133352707..133352708 [GRCh38] Chr9:136219562..136219563 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.303G>A (p.Glu101=) |
single nucleotide variant |
Leigh syndrome [RCV000554402] |
Chr9:133354679 [GRCh38] Chr9:136221534 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.534_535del (p.Asn178fs) |
deletion |
Leigh syndrome [RCV002469177]|not provided [RCV000498201] |
Chr9:133352747..133352748 [GRCh38] Chr9:136219602..136219603 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.771_773delinsG (p.Pro258fs) |
indel |
not provided [RCV000493316] |
Chr9:133352121..133352123 [GRCh38] Chr9:136218976..136218978 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.759dup (p.Val254fs) |
duplication |
Leigh syndrome [RCV000560693] |
Chr9:133352134..133352135 [GRCh38] Chr9:136218989..136218990 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.826G>A (p.Val276Met) |
single nucleotide variant |
Inborn genetic diseases [RCV000623467]|Leigh syndrome [RCV001248476]|not provided [RCV003488731] |
Chr9:133352068 [GRCh38] Chr9:136218923 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.736A>G (p.Ile246Val) |
single nucleotide variant |
Leigh syndrome [RCV000631408] |
Chr9:133352461 [GRCh38] Chr9:136219316 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.752-4dup |
duplication |
Leigh syndrome [RCV000631406] |
Chr9:133352145..133352146 [GRCh38] Chr9:136219000..136219001 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 |
copy number loss |
mTOR Inhibitor response [RCV000626442] |
Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
NM_003172.4(SURF1):c.687T>C (p.Tyr229=) |
single nucleotide variant |
Leigh syndrome [RCV000631413]|not provided [RCV003432659] |
Chr9:133352510 [GRCh38] Chr9:136219365 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.324-10_324-9insAGA |
insertion |
Leigh syndrome [RCV000631411] |
Chr9:133353949..133353950 [GRCh38] Chr9:136220804..136220805 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.796dup (p.Thr266fs) |
duplication |
not provided [RCV000627562] |
Chr9:133352097..133352098 [GRCh38] Chr9:136218952..136218953 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002528853]|Leigh syndrome [RCV000631407] |
Chr9:133351923 [GRCh38] Chr9:136218778 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002533180]|Leigh syndrome [RCV000631404]|not provided [RCV004791644] |
Chr9:133352086 [GRCh38] Chr9:136218941 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.900G>C (p.Val300=) |
single nucleotide variant |
Leigh syndrome [RCV000924099]|not specified [RCV000616919] |
Chr9:133351916 [GRCh38] Chr9:136218771 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-7A>G |
single nucleotide variant |
Leigh syndrome [RCV003619703]|not specified [RCV000614026] |
Chr9:133354748 [GRCh38] Chr9:136221603 [GRCh37] Chr9:9q34.2 |
likely benign |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) |
copy number gain |
Global developmental delay [RCV000626548] |
Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) |
insertion |
Charcot-Marie-Tooth disease type 4K [RCV002289700]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003147496]|See cases [RCV003128406]|not provided [RCV000512891] |
Chr9:133354670..133354671 [GRCh38] Chr9:136221525..136221526 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) |
deletion |
Leigh syndrome [RCV000587221] |
Chr9:133352565..133352566 [GRCh38] Chr9:136219420..136219421 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) |
deletion |
See cases [RCV003128413]|not provided [RCV000513441] |
Chr9:133354661..133354669 [GRCh38] Chr9:136221516..136221524 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.108G>A (p.Gly36=) |
single nucleotide variant |
Leigh syndrome [RCV002064337]|not provided [RCV001719062] |
Chr9:133354956 [GRCh38] Chr9:136221811 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.603G>A (p.Val201=) |
single nucleotide variant |
Leigh syndrome [RCV001412613] |
Chr9:133352594 [GRCh38] Chr9:136219449 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+1G>A |
single nucleotide variant |
Leigh syndrome [RCV000662348]|Leigh syndrome [RCV002530598] |
Chr9:133352693 [GRCh38] Chr9:136219548 [GRCh37] Chr9:9q34.2 |
pathogenic|not provided |
NM_003172.4(SURF1):c.54+30_54+31insCC |
insertion |
not provided [RCV000676735] |
Chr9:133356369..133356370 [GRCh38] Chr9:136223245..136223246 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.834-5C>T |
single nucleotide variant |
Leigh syndrome [RCV002060841]|not provided [RCV000676732] |
Chr9:133351987 [GRCh38] Chr9:136218842 [GRCh37] Chr9:9q34.2 |
likely benign |
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 |
copy number gain |
not provided [RCV000683160] |
Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg) |
single nucleotide variant |
Leigh syndrome [RCV000704099] |
Chr9:133354879 [GRCh38] Chr9:136221734 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) |
duplication |
Leigh syndrome [RCV000689337] |
Chr9:133352067..133352068 [GRCh38] Chr9:136218922..136218923 [GRCh37] Chr9:9q34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.833+1G>A |
single nucleotide variant |
Leigh syndrome [RCV000735985]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002272341]|not provided [RCV001784364]|not specified [RCV000781906] |
Chr9:133352060 [GRCh38] Chr9:136218915 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser) |
single nucleotide variant |
Leigh syndrome [RCV000754102] |
Chr9:133352122 [GRCh38] Chr9:136218977 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) |
single nucleotide variant |
Leigh syndrome [RCV000754103] |
Chr9:133352750 [GRCh38] Chr9:136219605 [GRCh37] Chr9:9q34.2 |
pathogenic|conflicting interpretations of pathogenicity |
NM_003172.4(SURF1):c.465_466del (p.Thr156fs) |
deletion |
Leigh syndrome [RCV000754104] |
Chr9:133353798..133353799 [GRCh38] Chr9:136220653..136220654 [GRCh37] Chr9:9q34.2 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.54+13TGCGGGG[4] |
microsatellite |
not provided [RCV001612500] |
Chr9:133356366..133356367 [GRCh38] Chr9:136223221..136223222 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.516-140G>A |
single nucleotide variant |
not provided [RCV001571870] |
Chr9:133352906 [GRCh38] Chr9:136219761 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.516-166G>C |
single nucleotide variant |
not provided [RCV001583628] |
Chr9:133352932 [GRCh38] Chr9:136219787 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.855A>G (p.Thr285=) |
single nucleotide variant |
Leigh syndrome [RCV000940036]|SURF1-related disorder [RCV004554838] |
Chr9:133351961 [GRCh38] Chr9:136218816 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs) |
duplication |
Leigh syndrome [RCV000988284] |
Chr9:133356426..133356427 [GRCh38] Chr9:136223302..136223303 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.555_556del (p.Lys186fs) |
deletion |
Leigh syndrome [RCV001051443]|not provided [RCV001580563] |
Chr9:133352726..133352727 [GRCh38] Chr9:136219581..136219582 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.591T>A (p.Ile197=) |
single nucleotide variant |
Leigh syndrome [RCV001061584] |
Chr9:133352606 [GRCh38] Chr9:136219461 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.*93C>T |
single nucleotide variant |
Leigh syndrome [RCV001165817] |
Chr9:133351820 [GRCh38] Chr9:136218675 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.801G>A (p.Leu267=) |
single nucleotide variant |
Leigh syndrome [RCV001165820]|not provided [RCV003433068] |
Chr9:133352093 [GRCh38] Chr9:136218948 [GRCh37] Chr9:9q34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.577C>G (p.Gln193Glu) |
single nucleotide variant |
not provided [RCV000999266] |
Chr9:133352705 [GRCh38] Chr9:136219560 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.720C>A (p.Gly240=) |
single nucleotide variant |
not provided [RCV000923029] |
Chr9:133352477 [GRCh38] Chr9:136219332 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.240+6G>A |
single nucleotide variant |
Leigh syndrome [RCV001521521] |
Chr9:133354818 [GRCh38] Chr9:136221673 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.525C>T (p.Ile175=) |
single nucleotide variant |
Leigh syndrome [RCV002547199] |
Chr9:133352757 [GRCh38] Chr9:136219612 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) |
single nucleotide variant |
Leigh syndrome [RCV000785948] |
Chr9:133353760 [GRCh38] Chr9:136220615 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.15T>G (p.Ala5=) |
single nucleotide variant |
not provided [RCV003424338]|not specified [RCV000781904] |
Chr9:133356439 [GRCh38] Chr9:136223315 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.17C>A (p.Ala6Glu) |
single nucleotide variant |
not specified [RCV000781905] |
Chr9:133356437 [GRCh38] Chr9:136223313 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.516-2A>G |
single nucleotide variant |
Leigh syndrome [RCV001242611]|not provided [RCV001726326]|not specified [RCV000780770] |
Chr9:133352768 [GRCh38] Chr9:136219623 [GRCh37] Chr9:9q34.2 |
pathogenic |
NC_000009.11:g.(?_134379574)_(138678377_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000807925] |
Chr9:134379574..138678377 [GRCh37] Chr9:9q34.13-34.3 |
uncertain significance |
NM_003172.4(SURF1):c.823A>C (p.Ile275Leu) |
single nucleotide variant |
Leigh syndrome [RCV000799005] |
Chr9:133352071 [GRCh38] Chr9:136218926 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 |
copy number gain |
not provided [RCV000845900] |
Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.323+229G>A |
single nucleotide variant |
not provided [RCV000833088] |
Chr9:133354430 [GRCh38] Chr9:136221285 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.*47G>A |
single nucleotide variant |
Leigh syndrome [RCV001165818]|not provided [RCV001562775] |
Chr9:133351866 [GRCh38] Chr9:136218721 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.437C>T (p.Ala146Val) |
single nucleotide variant |
Leigh syndrome [RCV001168009] |
Chr9:133353827 [GRCh38] Chr9:136220682 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.439C>T (p.Arg147Trp) |
single nucleotide variant |
Leigh syndrome [RCV001050771] |
Chr9:133353825 [GRCh38] Chr9:136220680 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.323+20C>A |
single nucleotide variant |
Leigh syndrome [RCV002067487]|not provided [RCV000828657] |
Chr9:133354639 [GRCh38] Chr9:136221494 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.281dup (p.Leu94fs) |
duplication |
Leigh syndrome [RCV000797278]|SURF1-related disorder [RCV004554825] |
Chr9:133354700..133354701 [GRCh38] Chr9:136221555..136221556 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) |
duplication |
Leigh syndrome [RCV000790941] |
Chr9:133352098..133352099 [GRCh38] Chr9:136218953..136218954 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.106+81G>C |
single nucleotide variant |
not provided [RCV000835858] |
Chr9:133356188 [GRCh38] Chr9:136223043 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile) |
single nucleotide variant |
Leigh syndrome [RCV001167393] |
Chr9:133352568 [GRCh38] Chr9:136219423 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 |
copy number gain |
not provided [RCV000847808] |
Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
NC_000009.11:g.(?_135771602)_(136769889_?)dup |
duplication |
Tuberous sclerosis 1 [RCV001033460] |
Chr9:135771602..136769889 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
NC_000009.11:g.(?_135771850)_(137038881_?)dup |
duplication |
Tuberous sclerosis 1 [RCV001033564] |
Chr9:135771850..137038881 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
NM_003172.4(SURF1):c.516-279C>A |
single nucleotide variant |
not provided [RCV001544583] |
Chr9:133353045 [GRCh38] Chr9:136219900 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) |
deletion |
Leigh syndrome [RCV001193158] |
Chr9:133354878..133354881 [GRCh38] Chr9:136221733..136221736 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.3(SURF1):c.-70_-69del |
deletion |
not specified [RCV001193159] |
Chr9:133356522..133356523 [GRCh38] Chr9:136223398..136223399 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.815_825dup (p.Val276fs) |
duplication |
Leigh syndrome [RCV001215424] |
Chr9:133352068..133352069 [GRCh38] Chr9:136218923..136218924 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.328A>G (p.Met110Val) |
single nucleotide variant |
Leigh syndrome [RCV001168780] |
Chr9:133353936 [GRCh38] Chr9:136220791 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.899_902del (p.Val300fs) |
microsatellite |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110138] |
Chr9:133351914..133351917 [GRCh38] Chr9:136218769..136218772 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.554dup (p.Lys186fs) |
duplication |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110159] |
Chr9:133352727..133352728 [GRCh38] Chr9:136219582..136219583 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.515+2T>C |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110170] |
Chr9:133353747 [GRCh38] Chr9:136220602 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.187C>T (p.Gln63Ter) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110171] |
Chr9:133354877 [GRCh38] Chr9:136221732 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.49G>T (p.Gly17Ter) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110167] |
Chr9:133356405 [GRCh38] Chr9:136223281 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.516-1G>A |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110136] |
Chr9:133352767 [GRCh38] Chr9:136219622 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.227T>A (p.Leu76Ter) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110169] |
Chr9:133354837 [GRCh38] Chr9:136221692 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.879C>G (p.Phe293Leu) |
single nucleotide variant |
Leigh syndrome [RCV003104638] |
Chr9:133351937 [GRCh38] Chr9:136218792 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.107-294C>T |
single nucleotide variant |
not provided [RCV001580788] |
Chr9:133355251 [GRCh38] Chr9:136222106 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.856T>C (p.Ser286Pro) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110134] |
Chr9:133351960 [GRCh38] Chr9:136218815 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.584G>T (p.Gly195Val) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110142]|not specified [RCV003331451] |
Chr9:133352698 [GRCh38] Chr9:136219553 [GRCh37] Chr9:9q34.2 |
likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.779G>A (p.Gly260Glu) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110151] |
Chr9:133352115 [GRCh38] Chr9:136218970 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.752-65A>T |
single nucleotide variant |
not provided [RCV001639081] |
Chr9:133352207 [GRCh38] Chr9:136219062 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.515+213A>G |
single nucleotide variant |
not provided [RCV001619688] |
Chr9:133353536 [GRCh38] Chr9:136220391 [GRCh37] Chr9:9q34.2 |
benign |
NC_000009.12:g.133356760GGGAGAG[2] |
microsatellite |
not provided [RCV001592312] |
Chr9:133356758..133356764 [GRCh38] Chr9:136223634..136223640 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.266_271del (p.Asn89_Leu90del) |
deletion |
Leigh syndrome [RCV001889122] |
Chr9:133354711..133354716 [GRCh38] Chr9:136221566..136221571 [GRCh37] Chr9:9q34.2 |
pathogenic|uncertain significance |
NM_003172.4(SURF1):c.106+250A>G |
single nucleotide variant |
not provided [RCV001656780] |
Chr9:133356019 [GRCh38] Chr9:136222874 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) |
single nucleotide variant |
Leigh syndrome [RCV002568909]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002488355]|not provided [RCV001532651] |
Chr9:133353756 [GRCh38] Chr9:136220611 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.321C>T (p.Ala107=) |
single nucleotide variant |
Leigh syndrome [RCV000874503]|not provided [RCV001593100] |
Chr9:133354661 [GRCh38] Chr9:136221516 [GRCh37] Chr9:9q34.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter) |
single nucleotide variant |
Leigh syndrome [RCV001193157] |
Chr9:133351982 [GRCh38] Chr9:136218837 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.84C>T (p.Val28=) |
single nucleotide variant |
Leigh syndrome [RCV001461752] |
Chr9:133356291 [GRCh38] Chr9:136223146 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.12:g.133356570G>C |
single nucleotide variant |
not provided [RCV001563173] |
Chr9:133356570 [GRCh38] Chr9:136223446 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter) |
single nucleotide variant |
Leigh syndrome [RCV000988283] |
Chr9:133354828 [GRCh38] Chr9:136221683 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.516-213G>C |
single nucleotide variant |
not provided [RCV001565452] |
Chr9:133352979 [GRCh38] Chr9:136219834 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+27C>T |
single nucleotide variant |
not provided [RCV001716713] |
Chr9:133352034 [GRCh38] Chr9:136218889 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.516-11C>T |
single nucleotide variant |
Leigh syndrome [RCV002072354]|not provided [RCV001590690] |
Chr9:133352777 [GRCh38] Chr9:136219632 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+36C>T |
single nucleotide variant |
not provided [RCV001638238] |
Chr9:133356364 [GRCh38] Chr9:136223219 [GRCh37] Chr9:9q34.2 |
benign |
NC_000009.12:g.133356715T>C |
single nucleotide variant |
not provided [RCV001594272] |
Chr9:133356715 [GRCh38] Chr9:136223591 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.226T>C (p.Leu76=) |
single nucleotide variant |
Leigh syndrome [RCV001168782] |
Chr9:133354838 [GRCh38] Chr9:136221693 [GRCh37] Chr9:9q34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.804G>C (p.Arg268Ser) |
single nucleotide variant |
Leigh syndrome [RCV001059308] |
Chr9:133352090 [GRCh38] Chr9:136218945 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro) |
single nucleotide variant |
Leigh syndrome [RCV001071486] |
Chr9:133354731 [GRCh38] Chr9:136221586 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NC_000009.12:g.133351735= |
single nucleotide variant |
not provided [RCV001652164] |
Chr9:133351735 [GRCh38] Chr9:136218590 [GRCh37] Chr9:9q34.2 |
benign |
NC_000009.12:g.133356661C>T |
single nucleotide variant |
not provided [RCV001584823] |
Chr9:133356661 [GRCh38] Chr9:136223537 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.491C>T (p.Thr164Ile) |
single nucleotide variant |
Leigh syndrome [RCV001866121]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003106238]|not provided [RCV001589557] |
Chr9:133353773 [GRCh38] Chr9:136220628 [GRCh37] Chr9:9q34.2 |
likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr) |
single nucleotide variant |
Leigh syndrome [RCV001167392] |
Chr9:133352491 [GRCh38] Chr9:136219346 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.243C>G (p.Val81=) |
single nucleotide variant |
not provided [RCV001200195] |
Chr9:133354739 [GRCh38] Chr9:136221594 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.106+15C>G |
single nucleotide variant |
Leigh syndrome [RCV001165890] |
Chr9:133356254 [GRCh38] Chr9:136223109 [GRCh37] Chr9:9q34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.412A>C (p.Thr138Pro) |
single nucleotide variant |
Leigh syndrome [RCV001229292] |
Chr9:133353852 [GRCh38] Chr9:136220707 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.507C>T (p.Thr169=) |
single nucleotide variant |
Leigh syndrome [RCV001168008]|SURF1-related disorder [RCV004554848] |
Chr9:133353757 [GRCh38] Chr9:136220612 [GRCh37] Chr9:9q34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003172.4(SURF1):c.*118T>C |
single nucleotide variant |
Leigh syndrome [RCV001165816]|not provided [RCV001712863] |
Chr9:133351795 [GRCh38] Chr9:136218650 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys) |
single nucleotide variant |
Leigh syndrome [RCV001165819] |
Chr9:133351980 [GRCh38] Chr9:136218835 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.342T>A (p.Asn114Lys) |
single nucleotide variant |
Leigh syndrome [RCV001350237] |
Chr9:133353922 [GRCh38] Chr9:136220777 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.898G>A (p.Val300Met) |
single nucleotide variant |
Inborn genetic diseases [RCV001265892]|Leigh syndrome [RCV002537681] |
Chr9:133351918 [GRCh38] Chr9:136218773 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.312T>G (p.Pro104=) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV004782216] |
Chr9:133354670 [GRCh38] Chr9:136221525 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.312_317del (p.Leu105_Pro106del) |
deletion |
not provided [RCV001268280] |
Chr9:133354665..133354670 [GRCh38] Chr9:136221520..136221525 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.320_321del (p.Ala107fs) |
deletion |
not provided [RCV001268278] |
Chr9:133354661..133354662 [GRCh38] Chr9:136221516..136221517 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.319G>T (p.Ala107Ser) |
single nucleotide variant |
not provided [RCV001268279] |
Chr9:133354663 [GRCh38] Chr9:136221518 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.808_812del (p.Glu270fs) |
deletion |
Leigh syndrome [RCV001261540]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001260238] |
Chr9:133352082..133352086 [GRCh38] Chr9:136218937..136218941 [GRCh37] Chr9:9q34.2 |
pathogenic|uncertain significance |
NM_003172.4(SURF1):c.750C>G (p.Phe250Leu) |
single nucleotide variant |
Leigh syndrome [RCV001298240] |
Chr9:133352447 [GRCh38] Chr9:136219302 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.596G>A (p.Gly199Glu) |
single nucleotide variant |
Leigh syndrome [RCV001338755] |
Chr9:133352601 [GRCh38] Chr9:136219456 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.378T>G (p.Phe126Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 4K [RCV001336023] |
Chr9:133353886 [GRCh38] Chr9:136220741 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.856T>G (p.Ser286Ala) |
single nucleotide variant |
Leigh syndrome [RCV001369526] |
Chr9:133351960 [GRCh38] Chr9:136218815 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.54+9_54+29del |
deletion |
Leigh syndrome [RCV001422880] |
Chr9:133356371..133356391 [GRCh38] Chr9:136223247..136223267 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.884G>T (p.Arg295Leu) |
single nucleotide variant |
Leigh syndrome [RCV001351957]|not provided [RCV003481090] |
Chr9:133351932 [GRCh38] Chr9:136218787 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.97C>G (p.Pro33Ala) |
single nucleotide variant |
Leigh syndrome [RCV001320225] |
Chr9:133356278 [GRCh38] Chr9:136223133 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.329T>C (p.Met110Thr) |
single nucleotide variant |
Leigh syndrome [RCV001350015] |
Chr9:133353935 [GRCh38] Chr9:136220790 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.500A>G (p.His167Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003365347]|Leigh syndrome [RCV001343258] |
Chr9:133353764 [GRCh38] Chr9:136220619 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.850G>A (p.Ala284Thr) |
single nucleotide variant |
Leigh syndrome [RCV001336545] |
Chr9:133351966 [GRCh38] Chr9:136218821 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.225C>T (p.Gly75=) |
single nucleotide variant |
Leigh syndrome [RCV001413198]|SURF1-related disorder [RCV004554865] |
Chr9:133354839 [GRCh38] Chr9:136221694 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.708C>A (p.Ala236=) |
single nucleotide variant |
Leigh syndrome [RCV001492794] |
Chr9:133352489 [GRCh38] Chr9:136219344 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.12:g.133351736= |
variation |
not provided [RCV001538271] |
Chr9:133351736 [GRCh38] Chr9:136218591 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.882A>G (p.Leu294=) |
single nucleotide variant |
Leigh syndrome [RCV001446816] |
Chr9:133351934 [GRCh38] Chr9:136218789 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.55-4G>C |
single nucleotide variant |
Inborn genetic diseases [RCV003264033]|Leigh syndrome [RCV001419301] |
Chr9:133356324 [GRCh38] Chr9:136223179 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.825C>T (p.Ile275=) |
single nucleotide variant |
Leigh syndrome [RCV001472355]|not provided [RCV001815560] |
Chr9:133352069 [GRCh38] Chr9:136218924 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) |
deletion |
Leigh syndrome [RCV001775175]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002501874]|not provided [RCV001539795] |
Chr9:133353896..133353897 [GRCh38] Chr9:136220751..136220752 [GRCh37] Chr9:9q34.2 |
pathogenic |
NC_000009.12:g.133356665C>T |
single nucleotide variant |
not provided [RCV001717121] |
Chr9:133356665 [GRCh38] Chr9:136223541 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.324-339A>C |
single nucleotide variant |
not provided [RCV001584617] |
Chr9:133354279 [GRCh38] Chr9:136221134 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+33= |
deletion |
not provided [RCV001716124] |
Chr9:133356367..133356390 [GRCh38] Chr9:136223243..136223266 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.6G>A (p.Ala2=) |
single nucleotide variant |
Leigh syndrome [RCV001477031] |
Chr9:133356448 [GRCh38] Chr9:136223324 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+276C>T |
single nucleotide variant |
not provided [RCV001687341] |
Chr9:133353473 [GRCh38] Chr9:136220328 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.211G>T (p.Val71Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002552716]|Leigh syndrome [RCV001399689]|not specified [RCV003120601] |
Chr9:133354853 [GRCh38] Chr9:136221708 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.510C>A (p.Asp170Glu) |
single nucleotide variant |
Leigh syndrome [RCV003108602] |
Chr9:133353754 [GRCh38] Chr9:136220609 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.833+1G>C |
single nucleotide variant |
Leigh syndrome [RCV002240096] |
Chr9:133352060 [GRCh38] Chr9:136218915 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.51_54+1dup |
duplication |
Leigh syndrome [RCV002240097] |
Chr9:133356398..133356399 [GRCh38] Chr9:136223274..136223275 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.106G>C (p.Gly36Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003163891]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002290751]|not provided [RCV001755300] |
Chr9:133356269 [GRCh38] Chr9:136223124 [GRCh37] Chr9:9q34.2 |
likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.65del (p.Ser22fs) |
deletion |
Leigh syndrome [RCV003619818]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003110168] |
Chr9:133356310 [GRCh38] Chr9:136223165 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.283del (p.Glu95fs) |
deletion |
Leigh syndrome [RCV001775414] |
Chr9:133354699 [GRCh38] Chr9:136221554 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.590T>C (p.Ile197Thr) |
single nucleotide variant |
not provided [RCV001767980] |
Chr9:133352607 [GRCh38] Chr9:136219462 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.595_598del (p.Gly199fs) |
deletion |
Leigh syndrome [RCV001775299] |
Chr9:133352599..133352602 [GRCh38] Chr9:136219454..136219457 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.842T>G (p.Leu281Arg) |
single nucleotide variant |
not provided [RCV001776340] |
Chr9:133351974 [GRCh38] Chr9:136218829 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.152dup (p.Ser52fs) |
duplication |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV001806262]|not provided [RCV001785036] |
Chr9:133354911..133354912 [GRCh38] Chr9:136221766..136221767 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.240+2T>C |
single nucleotide variant |
not provided [RCV001785034] |
Chr9:133354822 [GRCh38] Chr9:136221677 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) |
single nucleotide variant |
Leigh syndrome [RCV001797902]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002246514]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV002503285] |
Chr9:133352707 [GRCh38] Chr9:136219562 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter) |
single nucleotide variant |
Leigh syndrome [RCV001779460] |
Chr9:133351949 [GRCh38] Chr9:136218804 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.209C>G (p.Pro70Arg) |
single nucleotide variant |
not provided [RCV001757506] |
Chr9:133354855 [GRCh38] Chr9:136221710 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NC_000009.12:g.133356635C>T |
single nucleotide variant |
not provided [RCV001797491] |
Chr9:133356635 [GRCh38] Chr9:136223511 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.815_818dup (p.Gln273fs) |
duplication |
not provided [RCV001785035] |
Chr9:133352075..133352076 [GRCh38] Chr9:136218930..136218931 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.552del (p.Lys185fs) |
deletion |
Leigh syndrome [RCV001947811]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003136303]|not provided [RCV003222364] |
Chr9:133352730 [GRCh38] Chr9:136219585 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.461C>T (p.Ser154Phe) |
single nucleotide variant |
Leigh syndrome [RCV002008344] |
Chr9:133353803 [GRCh38] Chr9:136220658 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.788C>G (p.Thr263Ser) |
single nucleotide variant |
Leigh syndrome [RCV001908138] |
Chr9:133352106 [GRCh38] Chr9:136218961 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.16G>T (p.Ala6Ser) |
single nucleotide variant |
Leigh syndrome [RCV001950280] |
Chr9:133356438 [GRCh38] Chr9:136223314 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.703A>G (p.Met235Val) |
single nucleotide variant |
Leigh syndrome [RCV001986990]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003107937] |
Chr9:133352494 [GRCh38] Chr9:136219349 [GRCh37] Chr9:9q34.2 |
likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.228G>A (p.Leu76=) |
single nucleotide variant |
Leigh syndrome [RCV001929794] |
Chr9:133354836 [GRCh38] Chr9:136221691 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.512T>C (p.Leu171Pro) |
single nucleotide variant |
Leigh syndrome [RCV001929485] |
Chr9:133353752 [GRCh38] Chr9:136220607 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.547C>T (p.Pro183Ser) |
single nucleotide variant |
Leigh syndrome [RCV001895256] |
Chr9:133352735 [GRCh38] Chr9:136219590 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.240+5A>T |
single nucleotide variant |
Leigh syndrome [RCV001894487]|not provided [RCV003481148]|not specified [RCV004699506] |
Chr9:133354819 [GRCh38] Chr9:136221674 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.81C>A (p.Ser27Arg) |
single nucleotide variant |
Leigh syndrome [RCV001915300] |
Chr9:133356294 [GRCh38] Chr9:136223149 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.400A>T (p.Met134Leu) |
single nucleotide variant |
Leigh syndrome [RCV002025692] |
Chr9:133353864 [GRCh38] Chr9:136220719 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.589-9C>G |
single nucleotide variant |
Leigh syndrome [RCV001911366] |
Chr9:133352617 [GRCh38] Chr9:136219472 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.510C>G (p.Asp170Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002548103]|Leigh syndrome [RCV002004141] |
Chr9:133353754 [GRCh38] Chr9:136220609 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.836A>T (p.Tyr279Phe) |
single nucleotide variant |
Leigh syndrome [RCV001908561] |
Chr9:133351980 [GRCh38] Chr9:136218835 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.163A>G (p.Lys55Glu) |
single nucleotide variant |
Leigh syndrome [RCV002022241] |
Chr9:133354901 [GRCh38] Chr9:136221756 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.865T>G (p.Trp289Gly) |
single nucleotide variant |
Leigh syndrome [RCV001947769] |
Chr9:133351951 [GRCh38] Chr9:136218806 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) |
copy number gain |
not specified [RCV002053823] |
Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003172.4(SURF1):c.335T>C (p.Leu112Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002548102]|Leigh syndrome [RCV002004103] |
Chr9:133353929 [GRCh38] Chr9:136220784 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.19_35del (p.Leu7fs) |
deletion |
Leigh syndrome [RCV002002511] |
Chr9:133356419..133356435 [GRCh38] Chr9:136223295..136223311 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.747C>A (p.Asn249Lys) |
single nucleotide variant |
Leigh syndrome [RCV001928116] |
Chr9:133352450 [GRCh38] Chr9:136219305 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.161C>G (p.Thr54Arg) |
single nucleotide variant |
Leigh syndrome [RCV002022746] |
Chr9:133354903 [GRCh38] Chr9:136221758 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.485_486del (p.Val162fs) |
microsatellite |
Leigh syndrome [RCV002007158] |
Chr9:133353778..133353779 [GRCh38] Chr9:136220633..136220634 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.823A>T (p.Ile275Phe) |
single nucleotide variant |
Leigh syndrome [RCV001983234] |
Chr9:133352071 [GRCh38] Chr9:136218926 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.58_59dup (p.Ala21fs) |
duplication |
Leigh syndrome [RCV001891793] |
Chr9:133356315..133356316 [GRCh38] Chr9:136223170..136223171 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.324-3C>G |
single nucleotide variant |
Leigh syndrome [RCV001999686] |
Chr9:133353943 [GRCh38] Chr9:136220798 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.241-16T>A |
single nucleotide variant |
Leigh syndrome [RCV001901937] |
Chr9:133354757 [GRCh38] Chr9:136221612 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.1_9dup (p.Met1_Ala3dup) |
duplication |
Leigh syndrome [RCV001961037] |
Chr9:133356444..133356445 [GRCh38] Chr9:136223320..136223321 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.8C>T (p.Ala3Val) |
single nucleotide variant |
Leigh syndrome [RCV001886754] |
Chr9:133356446 [GRCh38] Chr9:136223322 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.437_445del (p.Ala146_Glu148del) |
deletion |
Leigh syndrome [RCV002030159] |
Chr9:133353819..133353827 [GRCh38] Chr9:136220674..136220682 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.106+15C>T |
single nucleotide variant |
Leigh syndrome [RCV001887933] |
Chr9:133356254 [GRCh38] Chr9:136223109 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.773_784del (p.Pro258_Gly261del) |
deletion |
Leigh syndrome [RCV001975167] |
Chr9:133352110..133352121 [GRCh38] Chr9:136218965..136218976 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.713T>C (p.Ile238Thr) |
single nucleotide variant |
Leigh syndrome [RCV001991184] |
Chr9:133352484 [GRCh38] Chr9:136219339 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.55G>C (p.Ala19Pro) |
single nucleotide variant |
Leigh syndrome [RCV001935844] |
Chr9:133356320 [GRCh38] Chr9:136223175 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.380A>C (p.Asp127Ala) |
single nucleotide variant |
Leigh syndrome [RCV002047038] |
Chr9:133353884 [GRCh38] Chr9:136220739 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.611T>G (p.Ile204Ser) |
single nucleotide variant |
Leigh syndrome [RCV002031018] |
Chr9:133352586 [GRCh38] Chr9:136219441 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.538G>C (p.Gly180Arg) |
single nucleotide variant |
Leigh syndrome [RCV002027283] |
Chr9:133352744 [GRCh38] Chr9:136219599 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC |
insertion |
Leigh syndrome [RCV002010885] |
Chr9:133352059..133352060 [GRCh38] Chr9:136218914..136218915 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.338A>G (p.Lys113Arg) |
single nucleotide variant |
Leigh syndrome [RCV001991778] |
Chr9:133353926 [GRCh38] Chr9:136220781 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.448G>A (p.Gly150Ser) |
single nucleotide variant |
Leigh syndrome [RCV001973378] |
Chr9:133353816 [GRCh38] Chr9:136220671 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.456CTC[2] (p.Ser155del) |
microsatellite |
Leigh syndrome [RCV001957969] |
Chr9:133353800..133353802 [GRCh38] Chr9:136220655..136220657 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.679T>A (p.Trp227Arg) |
single nucleotide variant |
Leigh syndrome [RCV001936146] |
Chr9:133352518 [GRCh38] Chr9:136219373 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.544G>A (p.Val182Ile) |
single nucleotide variant |
Leigh syndrome [RCV001901287] |
Chr9:133352738 [GRCh38] Chr9:136219593 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.649G>A (p.Val217Ile) |
single nucleotide variant |
Leigh syndrome [RCV002017730] |
Chr9:133352548 [GRCh38] Chr9:136219403 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.251G>A (p.Arg84Gln) |
single nucleotide variant |
Leigh syndrome [RCV002017752]|not provided [RCV004793700] |
Chr9:133354731 [GRCh38] Chr9:136221586 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.897T>C (p.Gly299=) |
single nucleotide variant |
Leigh syndrome [RCV001958635] |
Chr9:133351919 [GRCh38] Chr9:136218774 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.273del (p.Ile91fs) |
deletion |
Leigh syndrome [RCV001878042] |
Chr9:133354709 [GRCh38] Chr9:136221564 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.169G>A (p.Glu57Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004042082]|Leigh syndrome [RCV001960044] |
Chr9:133354895 [GRCh38] Chr9:136221750 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.632_642del (p.Glu211fs) |
deletion |
Leigh syndrome [RCV001926040] |
Chr9:133352555..133352565 [GRCh38] Chr9:136219410..136219420 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.248G>A (p.Arg83His) |
single nucleotide variant |
Inborn genetic diseases [RCV004671602]|Leigh syndrome [RCV001989373] |
Chr9:133354734 [GRCh38] Chr9:136221589 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.721G>A (p.Ala241Thr) |
single nucleotide variant |
Leigh syndrome [RCV001933399] |
Chr9:133352476 [GRCh38] Chr9:136219331 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.641_643del (p.Gln214del) |
deletion |
Leigh syndrome [RCV001924964] |
Chr9:133352554..133352556 [GRCh38] Chr9:136219409..136219411 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.863T>A (p.Leu288Gln) |
single nucleotide variant |
Leigh syndrome [RCV001930916] |
Chr9:133351953 [GRCh38] Chr9:136218808 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.32T>G (p.Leu11Arg) |
single nucleotide variant |
Leigh syndrome [RCV001884885] |
Chr9:133356422 [GRCh38] Chr9:136223298 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.542T>A (p.Phe181Tyr) |
single nucleotide variant |
Leigh syndrome [RCV001998621] |
Chr9:133352740 [GRCh38] Chr9:136219595 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.347A>G (p.Glu116Gly) |
single nucleotide variant |
Leigh syndrome [RCV002019408] |
Chr9:133353917 [GRCh38] Chr9:136220772 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.514G>A (p.Gly172Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002557790]|Leigh syndrome [RCV001940482] |
Chr9:133353750 [GRCh38] Chr9:136220605 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.56C>T (p.Ala19Val) |
single nucleotide variant |
Leigh syndrome [RCV002017991] |
Chr9:133356319 [GRCh38] Chr9:136223174 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.847G>A (p.Ala283Thr) |
single nucleotide variant |
Leigh syndrome [RCV001940216]|not provided [RCV003235617] |
Chr9:133351969 [GRCh38] Chr9:136218824 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.720C>T (p.Gly240=) |
single nucleotide variant |
Leigh syndrome [RCV001922778] |
Chr9:133352477 [GRCh38] Chr9:136219332 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.834-19G>A |
single nucleotide variant |
Leigh syndrome [RCV001950966] |
Chr9:133352001 [GRCh38] Chr9:136218856 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+7G>T |
single nucleotide variant |
Leigh syndrome [RCV001902776] |
Chr9:133356262 [GRCh38] Chr9:136223117 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.577C>T (p.Gln193Ter) |
single nucleotide variant |
Leigh syndrome [RCV001902056] |
Chr9:133352705 [GRCh38] Chr9:136219560 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.10G>A (p.Val4Met) |
single nucleotide variant |
Leigh syndrome [RCV002032069]|not specified [RCV004782867] |
Chr9:133356444 [GRCh38] Chr9:136223320 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) |
single nucleotide variant |
Leigh syndrome [RCV001951384]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV004785417]|not provided [RCV002275298] |
Chr9:133356301 [GRCh38] Chr9:136223156 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_003172.4(SURF1):c.309C>T (p.Val103=) |
single nucleotide variant |
Leigh syndrome [RCV002109265] |
Chr9:133354673 [GRCh38] Chr9:136221528 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-14T>G |
single nucleotide variant |
Leigh syndrome [RCV002207828] |
Chr9:133352156 [GRCh38] Chr9:136219011 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.751+9T>C |
single nucleotide variant |
Leigh syndrome [RCV002104657] |
Chr9:133352437 [GRCh38] Chr9:136219292 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-4A>G |
single nucleotide variant |
Leigh syndrome [RCV002107857] |
Chr9:133352612 [GRCh38] Chr9:136219467 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+11T>C |
single nucleotide variant |
Leigh syndrome [RCV002188455] |
Chr9:133352683 [GRCh38] Chr9:136219538 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.18G>T (p.Ala6=) |
single nucleotide variant |
Leigh syndrome [RCV002108723] |
Chr9:133356436 [GRCh38] Chr9:136223312 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.516-11C>G |
single nucleotide variant |
Leigh syndrome [RCV002192304] |
Chr9:133352777 [GRCh38] Chr9:136219632 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.240+10G>A |
single nucleotide variant |
Leigh syndrome [RCV002109939] |
Chr9:133354814 [GRCh38] Chr9:136221669 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+19G>T |
single nucleotide variant |
Leigh syndrome [RCV002152253] |
Chr9:133356381 [GRCh38] Chr9:136223257 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+19C>G |
single nucleotide variant |
Leigh syndrome [RCV002117037] |
Chr9:133354640 [GRCh38] Chr9:136221495 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.107-14G>A |
single nucleotide variant |
Leigh syndrome [RCV002096241] |
Chr9:133354971 [GRCh38] Chr9:136221826 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+11A>G |
single nucleotide variant |
Leigh syndrome [RCV002175044] |
Chr9:133352050 [GRCh38] Chr9:136218905 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.834-4C>T |
single nucleotide variant |
Leigh syndrome [RCV002196010] |
Chr9:133351986 [GRCh38] Chr9:136218841 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.78G>A (p.Arg26=) |
single nucleotide variant |
Leigh syndrome [RCV002081113] |
Chr9:133356297 [GRCh38] Chr9:136223152 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-15G>T |
single nucleotide variant |
Leigh syndrome [RCV002166824] |
Chr9:133354756 [GRCh38] Chr9:136221611 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.240+15_240+21del |
deletion |
Leigh syndrome [RCV002079533] |
Chr9:133354803..133354809 [GRCh38] Chr9:136221658..136221664 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+20C>G |
single nucleotide variant |
Leigh syndrome [RCV002187170] |
Chr9:133354639 [GRCh38] Chr9:136221494 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.93C>T (p.Val31=) |
single nucleotide variant |
Leigh syndrome [RCV002113072] |
Chr9:133356282 [GRCh38] Chr9:136223137 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.516-12del |
deletion |
Leigh syndrome [RCV002109748]|not provided [RCV004729082] |
Chr9:133352778 [GRCh38] Chr9:136219633 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.833+14G>A |
single nucleotide variant |
Leigh syndrome [RCV002146443] |
Chr9:133352047 [GRCh38] Chr9:136218902 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-20C>T |
single nucleotide variant |
Leigh syndrome [RCV002078722] |
Chr9:133354761 [GRCh38] Chr9:136221616 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+9_54+15del |
deletion |
Leigh syndrome [RCV002085392] |
Chr9:133356385..133356391 [GRCh38] Chr9:136223261..136223267 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.324-11T>C |
single nucleotide variant |
Leigh syndrome [RCV002123111]|not specified [RCV003323991] |
Chr9:133353951 [GRCh38] Chr9:136220806 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.594G>A (p.Glu198=) |
single nucleotide variant |
Leigh syndrome [RCV002081284] |
Chr9:133352603 [GRCh38] Chr9:136219458 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+12G>A |
single nucleotide variant |
Leigh syndrome [RCV002220466] |
Chr9:133356388 [GRCh38] Chr9:136223264 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.807C>T (p.Asn269=) |
single nucleotide variant |
Leigh syndrome [RCV002102618]|not provided [RCV002285531] |
Chr9:133352087 [GRCh38] Chr9:136218942 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-15_752-14del |
deletion |
Leigh syndrome [RCV002199499] |
Chr9:133352156..133352157 [GRCh38] Chr9:136219011..136219012 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.324-5T>C |
single nucleotide variant |
Leigh syndrome [RCV002117485] |
Chr9:133353945 [GRCh38] Chr9:136220800 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+15G>A |
single nucleotide variant |
Leigh syndrome [RCV002181203] |
Chr9:133352046 [GRCh38] Chr9:136218901 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.636C>T (p.Thr212=) |
single nucleotide variant |
Leigh syndrome [RCV002160798] |
Chr9:133352561 [GRCh38] Chr9:136219416 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.57C>T (p.Ala19=) |
single nucleotide variant |
Leigh syndrome [RCV002156992] |
Chr9:133356318 [GRCh38] Chr9:136223173 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.324-19T>C |
single nucleotide variant |
Leigh syndrome [RCV002204393]|SURF1-related disorder [RCV004758880] |
Chr9:133353959 [GRCh38] Chr9:136220814 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.324-19T>G |
single nucleotide variant |
Leigh syndrome [RCV002100210] |
Chr9:133353959 [GRCh38] Chr9:136220814 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+13T>C |
single nucleotide variant |
Leigh syndrome [RCV002082032] |
Chr9:133353736 [GRCh38] Chr9:136220591 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-10G>C |
single nucleotide variant |
Leigh syndrome [RCV002122006] |
Chr9:133352152 [GRCh38] Chr9:136219007 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-4A>C |
single nucleotide variant |
Leigh syndrome [RCV002179786] |
Chr9:133352146 [GRCh38] Chr9:136219001 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter) |
single nucleotide variant |
Leigh syndrome [RCV002222921]|SURF1-related disorder [RCV004758881] |
Chr9:133356432 [GRCh38] Chr9:136223308 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.678C>T (p.His226=) |
single nucleotide variant |
Leigh syndrome [RCV002203300] |
Chr9:133352519 [GRCh38] Chr9:136219374 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+15G>C |
single nucleotide variant |
Leigh syndrome [RCV002181833] |
Chr9:133354644 [GRCh38] Chr9:136221499 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.582A>G (p.Lys194=) |
single nucleotide variant |
Leigh syndrome [RCV002219801] |
Chr9:133352700 [GRCh38] Chr9:136219555 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.343C>T (p.Leu115=) |
single nucleotide variant |
Leigh syndrome [RCV002182559] |
Chr9:133353921 [GRCh38] Chr9:136220776 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.657G>C (p.Glu219Asp) |
single nucleotide variant |
Leigh syndrome [RCV003110423] |
Chr9:133352540 [GRCh38] Chr9:136219395 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NC_000009.11:g.(?_135139626)_(140034216_?)dup |
duplication |
Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] |
Chr9:135139626..140034216 [GRCh37] Chr9:9q34.13-34.3 |
uncertain significance |
NC_000009.11:g.(?_136223104)_(136223329_?)dup |
duplication |
Leigh syndrome [RCV003113228] |
Chr9:136223104..136223329 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.693C>G (p.Asp231Glu) |
single nucleotide variant |
Leigh syndrome [RCV003117895] |
Chr9:133352504 [GRCh38] Chr9:136219359 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NC_000009.11:g.(?_131087402)_(141016451_?)dup |
duplication |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] |
Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3 |
uncertain significance |
NC_000009.11:g.(?_136218768)_(141016451_?)dup |
duplication |
Kleefstra syndrome 1 [RCV003122719] |
Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3 |
uncertain significance |
NM_003172.4(SURF1):c.30G>T (p.Gly10=) |
single nucleotide variant |
Leigh syndrome [RCV003105180] |
Chr9:133356424 [GRCh38] Chr9:136223300 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.684T>A (p.His228Gln) |
single nucleotide variant |
not provided [RCV003236968] |
Chr9:133352513 [GRCh38] Chr9:136219368 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.773_774del (p.Pro258fs) |
deletion |
Leigh syndrome [RCV002281857] |
Chr9:133352120..133352121 [GRCh38] Chr9:136218975..136218976 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.796_798delinsTG (p.Thr266fs) |
indel |
not provided [RCV002276214] |
Chr9:133352096..133352098 [GRCh38] Chr9:136218951..136218953 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.737T>C (p.Ile246Thr) |
single nucleotide variant |
not specified [RCV003236519] |
Chr9:133352460 [GRCh38] Chr9:136219315 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.614G>A (p.Gly205Glu) |
single nucleotide variant |
See cases [RCV003128480] |
Chr9:133352583 [GRCh38] Chr9:136219438 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.542T>G (p.Phe181Cys) |
single nucleotide variant |
Leigh syndrome [RCV002295436] |
Chr9:133352740 [GRCh38] Chr9:136219595 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.727C>A (p.Pro243Thr) |
single nucleotide variant |
Leigh syndrome [RCV002298387] |
Chr9:133352470 [GRCh38] Chr9:136219325 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.260A>G (p.Lys87Arg) |
single nucleotide variant |
Leigh syndrome [RCV003075011] |
Chr9:133354722 [GRCh38] Chr9:136221577 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.703A>C (p.Met235Leu) |
single nucleotide variant |
Leigh syndrome [RCV002972227] |
Chr9:133352494 [GRCh38] Chr9:136219349 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.107-5T>C |
single nucleotide variant |
Leigh syndrome [RCV002995669] |
Chr9:133354962 [GRCh38] Chr9:136221817 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.55-5C>T |
single nucleotide variant |
Leigh syndrome [RCV002571597]|not specified [RCV002510346] |
Chr9:133356325 [GRCh38] Chr9:136223180 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.431G>A (p.Arg144Gln) |
single nucleotide variant |
Leigh syndrome [RCV002618621] |
Chr9:133353833 [GRCh38] Chr9:136220688 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.250C>T (p.Arg84Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002860095] |
Chr9:133354732 [GRCh38] Chr9:136221587 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.752-18A>G |
single nucleotide variant |
Leigh syndrome [RCV002843094] |
Chr9:133352160 [GRCh38] Chr9:136219015 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.441G>A (p.Arg147=) |
single nucleotide variant |
Leigh syndrome [RCV002756269] |
Chr9:133353823 [GRCh38] Chr9:136220678 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.903A>T (p.Ter301Cys) |
single nucleotide variant |
Leigh syndrome [RCV003016842] |
Chr9:133351913 [GRCh38] Chr9:136218768 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.751+7T>C |
single nucleotide variant |
Leigh syndrome [RCV002995742] |
Chr9:133352439 [GRCh38] Chr9:136219294 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.226T>G (p.Leu76Val) |
single nucleotide variant |
Leigh syndrome [RCV002756348] |
Chr9:133354838 [GRCh38] Chr9:136221693 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.754A>C (p.Ser252Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002734731] |
Chr9:133352140 [GRCh38] Chr9:136218995 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.607C>T (p.Leu203Phe) |
single nucleotide variant |
Leigh syndrome [RCV003097477] |
Chr9:133352590 [GRCh38] Chr9:136219445 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.398A>G (p.Tyr133Cys) |
single nucleotide variant |
Leigh syndrome [RCV002820085] |
Chr9:133353866 [GRCh38] Chr9:136220721 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.862C>T (p.Leu288=) |
single nucleotide variant |
Leigh syndrome [RCV002615210] |
Chr9:133351954 [GRCh38] Chr9:136218809 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+1del |
deletion |
Leigh syndrome [RCV003075102] |
Chr9:133353748 [GRCh38] Chr9:136220603 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.495C>T (p.Pro165=) |
single nucleotide variant |
Leigh syndrome [RCV002816323] |
Chr9:133353769 [GRCh38] Chr9:136220624 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.83T>C (p.Val28Ala) |
single nucleotide variant |
Leigh syndrome [RCV002903072] |
Chr9:133356292 [GRCh38] Chr9:136223147 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.763C>T (p.Pro255Ser) |
single nucleotide variant |
Leigh syndrome [RCV002681460] |
Chr9:133352131 [GRCh38] Chr9:136218986 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.352A>G (p.Arg118Gly) |
single nucleotide variant |
Leigh syndrome [RCV002927853] |
Chr9:133353912 [GRCh38] Chr9:136220767 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.903A>G (p.Ter301Trp) |
single nucleotide variant |
Leigh syndrome [RCV002705462] |
Chr9:133351913 [GRCh38] Chr9:136218768 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.233C>T (p.Thr78Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004064333]|Leigh syndrome [RCV002571967] |
Chr9:133354831 [GRCh38] Chr9:136221686 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.321C>G (p.Ala107=) |
single nucleotide variant |
Leigh syndrome [RCV002800344] |
Chr9:133354661 [GRCh38] Chr9:136221516 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+15G>C |
single nucleotide variant |
Leigh syndrome [RCV003077702] |
Chr9:133352046 [GRCh38] Chr9:136218901 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.831C>A (p.Thr277=) |
single nucleotide variant |
Leigh syndrome [RCV003022070] |
Chr9:133352063 [GRCh38] Chr9:136218918 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-18A>C |
single nucleotide variant |
Leigh syndrome [RCV002866810] |
Chr9:133352626 [GRCh38] Chr9:136219481 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.59C>T (p.Pro20Leu) |
single nucleotide variant |
Leigh syndrome [RCV002740333] |
Chr9:133356316 [GRCh38] Chr9:136223171 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.588+19T>C |
single nucleotide variant |
Leigh syndrome [RCV002760779] |
Chr9:133352675 [GRCh38] Chr9:136219530 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.751+1G>A |
single nucleotide variant |
Leigh syndrome [RCV002979667] |
Chr9:133352445 [GRCh38] Chr9:136219300 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.55-19C>T |
single nucleotide variant |
Leigh syndrome [RCV002570180] |
Chr9:133356339 [GRCh38] Chr9:136223194 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.55-20C>T |
single nucleotide variant |
Leigh syndrome [RCV002927835] |
Chr9:133356340 [GRCh38] Chr9:136223195 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-14T>C |
single nucleotide variant |
Leigh syndrome [RCV002736864] |
Chr9:133352156 [GRCh38] Chr9:136219011 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.891A>C (p.Thr297=) |
single nucleotide variant |
Leigh syndrome [RCV002781183] |
Chr9:133351925 [GRCh38] Chr9:136218780 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.723A>G (p.Ala241=) |
single nucleotide variant |
Leigh syndrome [RCV002949313] |
Chr9:133352474 [GRCh38] Chr9:136219329 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.406C>T (p.Pro136Ser) |
single nucleotide variant |
Leigh syndrome [RCV002620424] |
Chr9:133353858 [GRCh38] Chr9:136220713 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.861C>T (p.Tyr287=) |
single nucleotide variant |
Leigh syndrome [RCV003077377] |
Chr9:133351955 [GRCh38] Chr9:136218810 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-16T>C |
single nucleotide variant |
Leigh syndrome [RCV002736636] |
Chr9:133354757 [GRCh38] Chr9:136221612 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.834-4dup |
duplication |
Leigh syndrome [RCV002886107] |
Chr9:133351985..133351986 [GRCh38] Chr9:136218840..136218841 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.295C>G (p.Leu99Val) |
single nucleotide variant |
Leigh syndrome [RCV003053151] |
Chr9:133354687 [GRCh38] Chr9:136221542 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.384T>C (p.His128=) |
single nucleotide variant |
Leigh syndrome [RCV002591576] |
Chr9:133353880 [GRCh38] Chr9:136220735 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.552G>A (p.Arg184=) |
single nucleotide variant |
Leigh syndrome [RCV002780752] |
Chr9:133352730 [GRCh38] Chr9:136219585 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.700G>C (p.Ala234Pro) |
single nucleotide variant |
Leigh syndrome [RCV002590766] |
Chr9:133352497 [GRCh38] Chr9:136219352 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.54+15C>T |
single nucleotide variant |
Leigh syndrome [RCV002886607] |
Chr9:133356385 [GRCh38] Chr9:136223261 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.12:g.133352139CT[1] |
microsatellite |
Leigh syndrome [RCV003079101] |
Chr9:133352139..133352142 [GRCh38] Chr9:136218994..136218997 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.759A>G (p.Thr253=) |
single nucleotide variant |
Leigh syndrome [RCV003055182] |
Chr9:133352135 [GRCh38] Chr9:136218990 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.846T>C (p.Ser282=) |
single nucleotide variant |
Leigh syndrome [RCV002926806] |
Chr9:133351970 [GRCh38] Chr9:136218825 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.28G>A (p.Gly10Arg) |
single nucleotide variant |
Leigh syndrome [RCV003000008] |
Chr9:133356426 [GRCh38] Chr9:136223302 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.407C>T (p.Pro136Leu) |
single nucleotide variant |
Leigh syndrome [RCV002923395] |
Chr9:133353857 [GRCh38] Chr9:136220712 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.482A>G (p.Tyr161Cys) |
single nucleotide variant |
Leigh syndrome [RCV002619064] |
Chr9:133353782 [GRCh38] Chr9:136220637 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.621G>A (p.Val207=) |
single nucleotide variant |
Leigh syndrome [RCV003085228] |
Chr9:133352576 [GRCh38] Chr9:136219431 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.416T>C (p.Met139Thr) |
single nucleotide variant |
Leigh syndrome [RCV002918315] |
Chr9:133353848 [GRCh38] Chr9:136220703 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.219C>G (p.Ala73=) |
single nucleotide variant |
Leigh syndrome [RCV003085435] |
Chr9:133354845 [GRCh38] Chr9:136221700 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.334C>T (p.Leu112=) |
single nucleotide variant |
Leigh syndrome [RCV003083209] |
Chr9:133353930 [GRCh38] Chr9:136220785 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+5_54+6delinsTT |
indel |
Leigh syndrome [RCV003025050] |
Chr9:133356394..133356395 [GRCh38] Chr9:136223270..136223271 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.487G>A (p.Val163Ile) |
single nucleotide variant |
Leigh syndrome [RCV003025753] |
Chr9:133353777 [GRCh38] Chr9:136220632 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.598G>C (p.Glu200Gln) |
single nucleotide variant |
Leigh syndrome [RCV003057890] |
Chr9:133352599 [GRCh38] Chr9:136219454 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.200T>C (p.Leu67Pro) |
single nucleotide variant |
Leigh syndrome [RCV002643898] |
Chr9:133354864 [GRCh38] Chr9:136221719 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.453C>T (p.Leu151=) |
single nucleotide variant |
Leigh syndrome [RCV002710636] |
Chr9:133353811 [GRCh38] Chr9:136220666 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.510C>T (p.Asp170=) |
single nucleotide variant |
Leigh syndrome [RCV002801834] |
Chr9:133353754 [GRCh38] Chr9:136220609 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+16C>G |
single nucleotide variant |
Leigh syndrome [RCV002624754] |
Chr9:133356253 [GRCh38] Chr9:136223108 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.850G>C (p.Ala284Pro) |
single nucleotide variant |
Leigh syndrome [RCV003042026] |
Chr9:133351966 [GRCh38] Chr9:136218821 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.800T>C (p.Leu267Pro) |
single nucleotide variant |
Leigh syndrome [RCV002928647] |
Chr9:133352094 [GRCh38] Chr9:136218949 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.190T>C (p.Trp64Arg) |
single nucleotide variant |
Leigh syndrome [RCV003056537] |
Chr9:133354874 [GRCh38] Chr9:136221729 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.692A>G (p.Asp231Gly) |
single nucleotide variant |
Leigh syndrome [RCV002801557] |
Chr9:133352505 [GRCh38] Chr9:136219360 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.581_582del (p.Lys194fs) |
deletion |
Leigh syndrome [RCV002801572] |
Chr9:133352700..133352701 [GRCh38] Chr9:136219555..136219556 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.410G>A (p.Arg137Gln) |
single nucleotide variant |
Leigh syndrome [RCV003083352]|not provided [RCV004598235] |
Chr9:133353854 [GRCh38] Chr9:136220709 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.515+17G>A |
single nucleotide variant |
Leigh syndrome [RCV002917412] |
Chr9:133353732 [GRCh38] Chr9:136220587 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.245A>T (p.Gln82Leu) |
single nucleotide variant |
Leigh syndrome [RCV003059503] |
Chr9:133354737 [GRCh38] Chr9:136221592 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.35G>T (p.Arg12Leu) |
single nucleotide variant |
Leigh syndrome [RCV003040019] |
Chr9:133356419 [GRCh38] Chr9:136223295 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.790A>G (p.Arg264Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002743856]|not provided [RCV003481436] |
Chr9:133352104 [GRCh38] Chr9:136218959 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.189G>A (p.Gln63=) |
single nucleotide variant |
Leigh syndrome [RCV002595204] |
Chr9:133354875 [GRCh38] Chr9:136221730 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.442G>A (p.Glu148Lys) |
single nucleotide variant |
Leigh syndrome [RCV002985244] |
Chr9:133353822 [GRCh38] Chr9:136220677 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.834-15G>C |
single nucleotide variant |
Leigh syndrome [RCV002667380] |
Chr9:133351997 [GRCh38] Chr9:136218852 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.798T>C (p.Thr266=) |
single nucleotide variant |
Leigh syndrome [RCV002594630] |
Chr9:133352096 [GRCh38] Chr9:136218951 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.69C>T (p.Ala23=) |
single nucleotide variant |
Leigh syndrome [RCV002741050] |
Chr9:133356306 [GRCh38] Chr9:136223161 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.55-13T>C |
single nucleotide variant |
Leigh syndrome [RCV002852870] |
Chr9:133356333 [GRCh38] Chr9:136223188 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+14G>A |
single nucleotide variant |
Leigh syndrome [RCV002576141] |
Chr9:133353735 [GRCh38] Chr9:136220590 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Leigh syndrome [RCV003042934] |
Chr9:133352490 [GRCh38] Chr9:136219345 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.55-5C>G |
single nucleotide variant |
Leigh syndrome [RCV003005750] |
Chr9:133356325 [GRCh38] Chr9:136223180 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.668A>G (p.Glu223Gly) |
single nucleotide variant |
Leigh syndrome [RCV003056656] |
Chr9:133352529 [GRCh38] Chr9:136219384 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.638G>C (p.Arg213Thr) |
single nucleotide variant |
Leigh syndrome [RCV002985602] |
Chr9:133352559 [GRCh38] Chr9:136219414 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.309C>A (p.Val103=) |
single nucleotide variant |
Leigh syndrome [RCV003056750] |
Chr9:133354673 [GRCh38] Chr9:136221528 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-1G>C |
single nucleotide variant |
Leigh syndrome [RCV003058239] |
Chr9:133352609 [GRCh38] Chr9:136219464 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.304C>G (p.Pro102Ala) |
single nucleotide variant |
Leigh syndrome [RCV002624874]|not provided [RCV003140137] |
Chr9:133354678 [GRCh38] Chr9:136221533 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.212T>C (p.Val71Ala) |
single nucleotide variant |
Leigh syndrome [RCV002720514] |
Chr9:133354852 [GRCh38] Chr9:136221707 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.348G>A (p.Glu116=) |
single nucleotide variant |
Leigh syndrome [RCV002650673] |
Chr9:133353916 [GRCh38] Chr9:136220771 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.201C>T (p.Leu67=) |
single nucleotide variant |
Leigh syndrome [RCV002599878] |
Chr9:133354863 [GRCh38] Chr9:136221718 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+12G>A |
single nucleotide variant |
Leigh syndrome [RCV002599949] |
Chr9:133352682 [GRCh38] Chr9:136219537 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.12:g.133354958dup |
duplication |
Leigh syndrome [RCV002632699] |
Chr9:133354954..133354955 [GRCh38] Chr9:136221809..136221810 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.764C>A (p.Pro255His) |
single nucleotide variant |
Leigh syndrome [RCV003064064] |
Chr9:133352130 [GRCh38] Chr9:136218985 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.769G>A (p.Gly257Arg) |
single nucleotide variant |
Leigh syndrome [RCV002650257] |
Chr9:133352125 [GRCh38] Chr9:136218980 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.884G>A (p.Arg295His) |
single nucleotide variant |
Leigh syndrome [RCV002966558]|not provided [RCV004790291] |
Chr9:133351932 [GRCh38] Chr9:136218787 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.491C>G (p.Thr164Ser) |
single nucleotide variant |
Leigh syndrome [RCV002676487] |
Chr9:133353773 [GRCh38] Chr9:136220628 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.435G>A (p.Glu145=) |
single nucleotide variant |
Leigh syndrome [RCV002835313] |
Chr9:133353829 [GRCh38] Chr9:136220684 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.796A>T (p.Thr266Ser) |
single nucleotide variant |
Leigh syndrome [RCV002716176] |
Chr9:133352098 [GRCh38] Chr9:136218953 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.834-11T>C |
single nucleotide variant |
Leigh syndrome [RCV003045687] |
Chr9:133351993 [GRCh38] Chr9:136218848 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.823A>G (p.Ile275Val) |
single nucleotide variant |
Leigh syndrome [RCV002629975] |
Chr9:133352071 [GRCh38] Chr9:136218926 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.208C>T (p.Pro70Ser) |
single nucleotide variant |
Leigh syndrome [RCV003029022] |
Chr9:133354856 [GRCh38] Chr9:136221711 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.630A>G (p.Thr210=) |
single nucleotide variant |
Leigh syndrome [RCV003087635] |
Chr9:133352567 [GRCh38] Chr9:136219422 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.771A>G (p.Gly257=) |
single nucleotide variant |
Leigh syndrome [RCV002899549] |
Chr9:133352123 [GRCh38] Chr9:136218978 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-12C>G |
single nucleotide variant |
Leigh syndrome [RCV002646254] |
Chr9:133354753 [GRCh38] Chr9:136221608 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.430C>T (p.Arg144Trp) |
single nucleotide variant |
Leigh syndrome [RCV003063534] |
Chr9:133353834 [GRCh38] Chr9:136220689 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.665C>G (p.Pro222Arg) |
single nucleotide variant |
Leigh syndrome [RCV002988543] |
Chr9:133352532 [GRCh38] Chr9:136219387 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.240+17G>A |
single nucleotide variant |
Leigh syndrome [RCV003062783] |
Chr9:133354807 [GRCh38] Chr9:136221662 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.19_35dup (p.Ala13fs) |
duplication |
Leigh syndrome [RCV003062240] |
Chr9:133356418..133356419 [GRCh38] Chr9:136223294..136223295 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.179C>G (p.Ser60Cys) |
single nucleotide variant |
Leigh syndrome [RCV002805949] |
Chr9:133354885 [GRCh38] Chr9:136221740 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.833+19T>C |
single nucleotide variant |
Leigh syndrome [RCV003044230] |
Chr9:133352042 [GRCh38] Chr9:136218897 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.643C>T (p.Pro215Ser) |
single nucleotide variant |
Leigh syndrome [RCV002598814] |
Chr9:133352554 [GRCh38] Chr9:136219409 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.98C>G (p.Pro33Arg) |
single nucleotide variant |
Leigh syndrome [RCV002598688] |
Chr9:133356277 [GRCh38] Chr9:136223132 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.107-7T>G |
single nucleotide variant |
Leigh syndrome [RCV002630669] |
Chr9:133354964 [GRCh38] Chr9:136221819 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.589-8C>T |
single nucleotide variant |
Leigh syndrome [RCV002937663] |
Chr9:133352616 [GRCh38] Chr9:136219471 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.59C>G (p.Pro20Arg) |
single nucleotide variant |
Leigh syndrome [RCV002598728] |
Chr9:133356316 [GRCh38] Chr9:136223171 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.323+19C>T |
single nucleotide variant |
Leigh syndrome [RCV003090472] |
Chr9:133354640 [GRCh38] Chr9:136221495 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.655G>C (p.Glu219Gln) |
single nucleotide variant |
Leigh syndrome [RCV003048124] |
Chr9:133352542 [GRCh38] Chr9:136219397 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.363G>C (p.Lys121Asn) |
single nucleotide variant |
Leigh syndrome [RCV002716711] |
Chr9:133353901 [GRCh38] Chr9:136220756 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.240+9C>A |
single nucleotide variant |
Leigh syndrome [RCV002598802] |
Chr9:133354815 [GRCh38] Chr9:136221670 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.845C>G (p.Ser282Cys) |
single nucleotide variant |
Leigh syndrome [RCV002647953] |
Chr9:133351971 [GRCh38] Chr9:136218826 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.195C>T (p.Val65=) |
single nucleotide variant |
Leigh syndrome [RCV002599505] |
Chr9:133354869 [GRCh38] Chr9:136221724 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.108G>C (p.Gly36=) |
single nucleotide variant |
Leigh syndrome [RCV003026360] |
Chr9:133354956 [GRCh38] Chr9:136221811 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+10del |
deletion |
Leigh syndrome [RCV003027559] |
Chr9:133352051 [GRCh38] Chr9:136218906 [GRCh37] Chr9:9q34.2 |
benign |
NM_003172.4(SURF1):c.773C>G (p.Pro258Arg) |
single nucleotide variant |
Leigh syndrome [RCV002922682] |
Chr9:133352121 [GRCh38] Chr9:136218976 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.661A>G (p.Asn221Asp) |
single nucleotide variant |
Leigh syndrome [RCV003046467] |
Chr9:133352536 [GRCh38] Chr9:136219391 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.606_610dup (p.Ile204fs) |
duplication |
Leigh syndrome [RCV003060711] |
Chr9:133352586..133352587 [GRCh38] Chr9:136219441..136219442 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.106+7G>A |
single nucleotide variant |
Leigh syndrome [RCV002899204] |
Chr9:133356262 [GRCh38] Chr9:136223117 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.758C>G (p.Thr253Arg) |
single nucleotide variant |
Leigh syndrome [RCV002938192] |
Chr9:133352136 [GRCh38] Chr9:136218991 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.106+19G>A |
single nucleotide variant |
Leigh syndrome [RCV002577910] |
Chr9:133356250 [GRCh38] Chr9:136223105 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.815T>C (p.Leu272Pro) |
single nucleotide variant |
Leigh syndrome [RCV002833045] |
Chr9:133352079 [GRCh38] Chr9:136218934 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.247C>T (p.Arg83Cys) |
single nucleotide variant |
Leigh syndrome [RCV002605287] |
Chr9:133354735 [GRCh38] Chr9:136221590 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.486G>C (p.Val162=) |
single nucleotide variant |
Leigh syndrome [RCV002658075] |
Chr9:133353778 [GRCh38] Chr9:136220633 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.776T>C (p.Ile259Thr) |
single nucleotide variant |
Leigh syndrome [RCV002603390] |
Chr9:133352118 [GRCh38] Chr9:136218973 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.827T>C (p.Val276Ala) |
single nucleotide variant |
Leigh syndrome [RCV003051924] |
Chr9:133352067 [GRCh38] Chr9:136218922 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.440G>A (p.Arg147Gln) |
single nucleotide variant |
Leigh syndrome [RCV003067922] |
Chr9:133353824 [GRCh38] Chr9:136220679 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.75GAG[3] (p.Arg26_Ser27insArg) |
microsatellite |
Leigh syndrome [RCV002943811] |
Chr9:133356294..133356295 [GRCh38] Chr9:136223149..136223150 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.55-16CCGT[3] |
microsatellite |
Leigh syndrome [RCV003068409] |
Chr9:133356328..133356329 [GRCh38] Chr9:136223183..136223184 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+34_55-2del |
deletion |
Leigh syndrome [RCV002725798] |
Chr9:133356322..133356366 [GRCh38] Chr9:136223177..136223221 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.588G>A (p.Gln196=) |
single nucleotide variant |
Leigh syndrome [RCV002584984] |
Chr9:133352694 [GRCh38] Chr9:136219549 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.106+6G>A |
single nucleotide variant |
Leigh syndrome [RCV002942741]|not specified [RCV004765604] |
Chr9:133356263 [GRCh38] Chr9:136223118 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.464C>T (p.Ser155Leu) |
single nucleotide variant |
Leigh syndrome [RCV002676876] |
Chr9:133353800 [GRCh38] Chr9:136220655 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.775A>G (p.Ile259Val) |
single nucleotide variant |
Leigh syndrome [RCV002603211] |
Chr9:133352119 [GRCh38] Chr9:136218974 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.168G>A (p.Ala56=) |
single nucleotide variant |
Leigh syndrome [RCV002610106]|SURF1-related disorder [RCV004554895] |
Chr9:133354896 [GRCh38] Chr9:136221751 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys) |
single nucleotide variant |
Leigh syndrome [RCV002585428] |
Chr9:133352073 [GRCh38] Chr9:136218928 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.267C>T (p.Asn89=) |
single nucleotide variant |
Leigh syndrome [RCV003071290] |
Chr9:133354715 [GRCh38] Chr9:136221570 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+11A>T |
single nucleotide variant |
Leigh syndrome [RCV002633481] |
Chr9:133352050 [GRCh38] Chr9:136218905 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.573C>T (p.Thr191=) |
single nucleotide variant |
Leigh syndrome [RCV003066952]|SURF1-related disorder [RCV004554894] |
Chr9:133352709 [GRCh38] Chr9:136219564 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.240+11G>C |
single nucleotide variant |
Leigh syndrome [RCV002587538] |
Chr9:133354813 [GRCh38] Chr9:136221668 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter) |
single nucleotide variant |
Leigh syndrome [RCV003155662] |
Chr9:133352077 [GRCh38] Chr9:136218932 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.329T>A (p.Met110Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003204526] |
Chr9:133353935 [GRCh38] Chr9:136220790 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.184C>A (p.Leu62Ile) |
single nucleotide variant |
not provided [RCV003227259] |
Chr9:133354880 [GRCh38] Chr9:136221735 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.38_44del (p.Ala13fs) |
deletion |
Leigh syndrome [RCV003619837]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003330155] |
Chr9:133356410..133356416 [GRCh38] Chr9:136223286..136223292 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.812A>G (p.His271Arg) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003338207] |
Chr9:133352082 [GRCh38] Chr9:136218937 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.823_833+7del |
deletion |
not provided [RCV003332494] |
Chr9:133352054..133352071 [GRCh38] Chr9:136218909..136218926 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.193G>A (p.Val65Ile) |
single nucleotide variant |
not provided [RCV003457174] |
Chr9:133354871 [GRCh38] Chr9:136221726 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.323+11G>A |
single nucleotide variant |
Leigh syndrome [RCV003874628] |
Chr9:133354648 [GRCh38] Chr9:136221503 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+14G>A |
single nucleotide variant |
Leigh syndrome [RCV003874242] |
Chr9:133356255 [GRCh38] Chr9:136223110 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-14A>G |
single nucleotide variant |
Leigh syndrome [RCV003874907] |
Chr9:133352622 [GRCh38] Chr9:136219477 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.700G>A (p.Ala234Thr) |
single nucleotide variant |
not provided [RCV003481938] |
Chr9:133352497 [GRCh38] Chr9:136219352 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.516-20T>C |
single nucleotide variant |
Leigh syndrome [RCV003511189] |
Chr9:133352786 [GRCh38] Chr9:136219641 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.27G>A (p.Leu9=) |
single nucleotide variant |
Leigh syndrome [RCV003511304] |
Chr9:133356427 [GRCh38] Chr9:136223303 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.-2C>G |
single nucleotide variant |
not provided [RCV003442398] |
Chr9:133356455 [GRCh38] Chr9:136223331 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.515+12_515+13del |
deletion |
Leigh syndrome [RCV003829074] |
Chr9:133353736..133353737 [GRCh38] Chr9:136220591..136220592 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.627G>A (p.Leu209=) |
single nucleotide variant |
Leigh syndrome [RCV003510366] |
Chr9:133352570 [GRCh38] Chr9:136219425 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.480C>T (p.Ala160=) |
single nucleotide variant |
Leigh syndrome [RCV003830646] |
Chr9:133353784 [GRCh38] Chr9:136220639 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.808G>T (p.Glu270Ter) |
single nucleotide variant |
Leigh syndrome [RCV003511461] |
Chr9:133352086 [GRCh38] Chr9:136218941 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.752-3C>G |
single nucleotide variant |
Leigh syndrome [RCV003511462] |
Chr9:133352145 [GRCh38] Chr9:136219000 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.640C>T (p.Gln214Ter) |
single nucleotide variant |
Leigh syndrome [RCV003511463] |
Chr9:133352557 [GRCh38] Chr9:136219412 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.18G>A (p.Ala6=) |
single nucleotide variant |
Leigh syndrome [RCV003510714] |
Chr9:133356436 [GRCh38] Chr9:136223312 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.822C>T (p.Tyr274=) |
single nucleotide variant |
Leigh syndrome [RCV003511142] |
Chr9:133352072 [GRCh38] Chr9:136218927 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.55-18G>T |
single nucleotide variant |
Leigh syndrome [RCV003509140] |
Chr9:133356338 [GRCh38] Chr9:136223193 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.834-13_834-9dup |
duplication |
Leigh syndrome [RCV003510030] |
Chr9:133351990..133351991 [GRCh38] Chr9:136218845..136218846 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+12A>G |
single nucleotide variant |
Leigh syndrome [RCV003510072] |
Chr9:133353737 [GRCh38] Chr9:136220592 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+10G>A |
single nucleotide variant |
Leigh syndrome [RCV003510648] |
Chr9:133356259 [GRCh38] Chr9:136223114 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.551G>A (p.Arg184Lys) |
single nucleotide variant |
not specified [RCV003489559] |
Chr9:133352731 [GRCh38] Chr9:136219586 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.834-14C>G |
single nucleotide variant |
Leigh syndrome [RCV003510011] |
Chr9:133351996 [GRCh38] Chr9:136218851 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.27G>C (p.Leu9=) |
single nucleotide variant |
Leigh syndrome [RCV003510697] |
Chr9:133356427 [GRCh38] Chr9:136223303 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.456C>A (p.Ile152=) |
single nucleotide variant |
Leigh syndrome [RCV003511238] |
Chr9:133353808 [GRCh38] Chr9:136220663 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.180C>T (p.Ser60=) |
single nucleotide variant |
Leigh syndrome [RCV003881155] |
Chr9:133354884 [GRCh38] Chr9:136221739 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+11T>A |
single nucleotide variant |
Leigh syndrome [RCV003509299] |
Chr9:133352683 [GRCh38] Chr9:136219538 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.45G>T (p.Gly15=) |
single nucleotide variant |
Leigh syndrome [RCV003510163] |
Chr9:133356409 [GRCh38] Chr9:136223285 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+7G>A |
single nucleotide variant |
Leigh syndrome [RCV003511318] |
Chr9:133354652 [GRCh38] Chr9:136221507 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.276A>G (p.Ala92=) |
single nucleotide variant |
Leigh syndrome [RCV003511340] |
Chr9:133354706 [GRCh38] Chr9:136221561 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+12G>T |
single nucleotide variant |
Leigh syndrome [RCV003510131] |
Chr9:133352049 [GRCh38] Chr9:136218904 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.753G>A (p.Gln251=) |
single nucleotide variant |
Leigh syndrome [RCV003510827] |
Chr9:133352141 [GRCh38] Chr9:136218996 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+15C>G |
single nucleotide variant |
Leigh syndrome [RCV003511456] |
Chr9:133352679 [GRCh38] Chr9:136219534 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+12A>G |
single nucleotide variant |
Leigh syndrome [RCV003510235] |
Chr9:133356257 [GRCh38] Chr9:136223112 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.69C>A (p.Ala23=) |
single nucleotide variant |
Leigh syndrome [RCV003509461] |
Chr9:133356306 [GRCh38] Chr9:136223161 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.834-11T>G |
single nucleotide variant |
Leigh syndrome [RCV003510899] |
Chr9:133351993 [GRCh38] Chr9:136218848 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Leigh syndrome [RCV003510923] |
Chr9:133356451 [GRCh38] Chr9:136223327 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.786A>G (p.Gln262=) |
single nucleotide variant |
Leigh syndrome [RCV003510961] |
Chr9:133352108 [GRCh38] Chr9:136218963 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.751+15A>G |
single nucleotide variant |
Leigh syndrome [RCV003511031] |
Chr9:133352431 [GRCh38] Chr9:136219286 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.360G>A (p.Val120=) |
single nucleotide variant |
Leigh syndrome [RCV003509871] |
Chr9:133353904 [GRCh38] Chr9:136220759 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.107-8C>T |
single nucleotide variant |
Leigh syndrome [RCV003828486] |
Chr9:133354965 [GRCh38] Chr9:136221820 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+16C>T |
single nucleotide variant |
Leigh syndrome [RCV003510930] |
Chr9:133356253 [GRCh38] Chr9:136223108 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+15_515+17del |
deletion |
Leigh syndrome [RCV003510421] |
Chr9:133353732..133353734 [GRCh38] Chr9:136220587..136220589 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+17G>A |
single nucleotide variant |
Leigh syndrome [RCV003511049] |
Chr9:133356383 [GRCh38] Chr9:136223259 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.804del (p.Asn269fs) |
deletion |
Leigh syndrome [RCV003511266] |
Chr9:133352090 [GRCh38] Chr9:136218945 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.321C>A (p.Ala107=) |
single nucleotide variant |
Leigh syndrome [RCV003511398] |
Chr9:133354661 [GRCh38] Chr9:136221516 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.838_839dup (p.Leu281fs) |
duplication |
Leigh syndrome [RCV003510580] |
Chr9:133351976..133351977 [GRCh38] Chr9:136218831..136218832 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.816G>A (p.Leu272=) |
single nucleotide variant |
Leigh syndrome [RCV003511432] |
Chr9:133352078 [GRCh38] Chr9:136218933 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.459C>A (p.Ser153=) |
single nucleotide variant |
Leigh syndrome [RCV003509967] |
Chr9:133353805 [GRCh38] Chr9:136220660 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.489C>G (p.Val163=) |
single nucleotide variant |
Leigh syndrome [RCV003878218] |
Chr9:133353775 [GRCh38] Chr9:136220630 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.765T>C (p.Pro255=) |
single nucleotide variant |
Leigh syndrome [RCV003509162] |
Chr9:133352129 [GRCh38] Chr9:136218984 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.357A>G (p.Pro119=) |
single nucleotide variant |
Leigh syndrome [RCV003510015] |
Chr9:133353907 [GRCh38] Chr9:136220762 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.762C>G (p.Val254=) |
single nucleotide variant |
Leigh syndrome [RCV003510755] |
Chr9:133352132 [GRCh38] Chr9:136218987 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.159_199dup (p.Leu67fs) |
duplication |
Leigh syndrome [RCV003510179] |
Chr9:133354864..133354865 [GRCh38] Chr9:136221719..136221720 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.808_817dup (p.Gln273fs) |
duplication |
Leigh syndrome [RCV003510684] |
Chr9:133352076..133352077 [GRCh38] Chr9:136218931..136218932 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.282G>A (p.Leu94=) |
single nucleotide variant |
Leigh syndrome [RCV003878641] |
Chr9:133354700 [GRCh38] Chr9:136221555 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.45G>C (p.Gly15=) |
single nucleotide variant |
Leigh syndrome [RCV003509467] |
Chr9:133356409 [GRCh38] Chr9:136223285 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.372G>A (p.Gly124=) |
single nucleotide variant |
Leigh syndrome [RCV003510890] |
Chr9:133353892 [GRCh38] Chr9:136220747 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Leigh syndrome [RCV003877555] |
Chr9:133356453 [GRCh38] Chr9:136223329 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.870del (p.Phe290fs) |
deletion |
Leigh syndrome [RCV003511208]|not provided [RCV003886629] |
Chr9:133351946 [GRCh38] Chr9:136218801 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.531A>G (p.Val177=) |
single nucleotide variant |
Leigh syndrome [RCV003509220] |
Chr9:133352751 [GRCh38] Chr9:136219606 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.276A>C (p.Ala92=) |
single nucleotide variant |
Leigh syndrome [RCV003511309] |
Chr9:133354706 [GRCh38] Chr9:136221561 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.849A>T (p.Ala283=) |
single nucleotide variant |
Leigh syndrome [RCV003509257] |
Chr9:133351967 [GRCh38] Chr9:136218822 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.387C>A (p.Ser129=) |
single nucleotide variant |
Leigh syndrome [RCV003510870] |
Chr9:133353877 [GRCh38] Chr9:136220732 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+10A>G |
single nucleotide variant |
Leigh syndrome [RCV003511244] |
Chr9:133352684 [GRCh38] Chr9:136219539 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-7T>C |
single nucleotide variant |
Leigh syndrome [RCV003509409] |
Chr9:133352615 [GRCh38] Chr9:136219470 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+7del |
deletion |
Leigh syndrome [RCV003509427] |
Chr9:133356262 [GRCh38] Chr9:136223117 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.527del (p.Leu176fs) |
deletion |
Leigh syndrome [RCV003510251] |
Chr9:133352755 [GRCh38] Chr9:136219610 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.751+12A>G |
single nucleotide variant |
Leigh syndrome [RCV003510290] |
Chr9:133352434 [GRCh38] Chr9:136219289 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.741T>C (p.Asp247=) |
single nucleotide variant |
Leigh syndrome [RCV003510485] |
Chr9:133352456 [GRCh38] Chr9:136219311 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.579del (p.Gly195fs) |
deletion |
Leigh syndrome [RCV003509454] |
Chr9:133352703 [GRCh38] Chr9:136219558 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.708C>T (p.Ala236=) |
single nucleotide variant |
Leigh syndrome [RCV003511436] |
Chr9:133352489 [GRCh38] Chr9:136219344 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.820_824dup (p.Val276fs) |
duplication |
Leigh syndrome [RCV003511460] |
Chr9:133352069..133352070 [GRCh38] Chr9:136218924..136218925 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.204C>G (p.Leu68=) |
single nucleotide variant |
Leigh syndrome [RCV003879905] |
Chr9:133354860 [GRCh38] Chr9:136221715 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.882A>T (p.Leu294=) |
single nucleotide variant |
Leigh syndrome [RCV003510625] |
Chr9:133351934 [GRCh38] Chr9:136218789 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.262C>T (p.Leu88=) |
single nucleotide variant |
Leigh syndrome [RCV003509893] |
Chr9:133354720 [GRCh38] Chr9:136221575 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+9C>T |
single nucleotide variant |
Leigh syndrome [RCV003881918] |
Chr9:133352685 [GRCh38] Chr9:136219540 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-14C>T |
single nucleotide variant |
Leigh syndrome [RCV003509926] |
Chr9:133354755 [GRCh38] Chr9:136221610 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+7C>T |
single nucleotide variant |
Leigh syndrome [RCV003877456] |
Chr9:133352054 [GRCh38] Chr9:136218909 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.107-17G>T |
single nucleotide variant |
Leigh syndrome [RCV003509955] |
Chr9:133354974 [GRCh38] Chr9:136221829 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.831C>G (p.Thr277=) |
single nucleotide variant |
Leigh syndrome [RCV003510709] |
Chr9:133352063 [GRCh38] Chr9:136218918 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.751+10G>A |
single nucleotide variant |
Leigh syndrome [RCV003510017] |
Chr9:133352436 [GRCh38] Chr9:136219291 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.324-15C>T |
single nucleotide variant |
Leigh syndrome [RCV003510095] |
Chr9:133353955 [GRCh38] Chr9:136220810 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+16T>C |
single nucleotide variant |
Leigh syndrome [RCV003510767] |
Chr9:133352678 [GRCh38] Chr9:136219533 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.891A>G (p.Thr297=) |
single nucleotide variant |
Leigh syndrome [RCV003826479] |
Chr9:133351925 [GRCh38] Chr9:136218780 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.834-17T>C |
single nucleotide variant |
Leigh syndrome [RCV003509136] |
Chr9:133351999 [GRCh38] Chr9:136218854 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.468T>C (p.Thr156=) |
single nucleotide variant |
Leigh syndrome [RCV003619292] |
Chr9:133353796 [GRCh38] Chr9:136220651 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+17C>T |
single nucleotide variant |
Leigh syndrome [RCV003619309] |
Chr9:133352677 [GRCh38] Chr9:136219532 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.324-6A>G |
single nucleotide variant |
Leigh syndrome [RCV003619294] |
Chr9:133353946 [GRCh38] Chr9:136220801 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.864G>A (p.Leu288=) |
single nucleotide variant |
Leigh syndrome [RCV003833867] |
Chr9:133351952 [GRCh38] Chr9:136218807 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.489C>T (p.Val163=) |
single nucleotide variant |
Leigh syndrome [RCV003619394] |
Chr9:133353775 [GRCh38] Chr9:136220630 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.126C>T (p.Ser42=) |
single nucleotide variant |
Leigh syndrome [RCV003620615] |
Chr9:133354938 [GRCh38] Chr9:136221793 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.9G>T (p.Ala3=) |
single nucleotide variant |
Leigh syndrome [RCV003620941] |
Chr9:133356445 [GRCh38] Chr9:136223321 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+18G>C |
single nucleotide variant |
Leigh syndrome [RCV003620942] |
Chr9:133356251 [GRCh38] Chr9:136223106 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.252G>T (p.Arg84=) |
single nucleotide variant |
Leigh syndrome [RCV003619520] |
Chr9:133354730 [GRCh38] Chr9:136221585 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.764del (p.Pro255fs) |
deletion |
Leigh syndrome [RCV003620794] |
Chr9:133352130 [GRCh38] Chr9:136218985 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.96C>T (p.Ser32=) |
single nucleotide variant |
Leigh syndrome [RCV003620965] |
Chr9:133356279 [GRCh38] Chr9:136223134 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+9C>T |
single nucleotide variant |
Leigh syndrome [RCV003619616] |
Chr9:133356391 [GRCh38] Chr9:136223267 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+12A>C |
single nucleotide variant |
Leigh syndrome [RCV003620818] |
Chr9:133353737 [GRCh38] Chr9:136220592 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.771A>C (p.Gly257=) |
single nucleotide variant |
Leigh syndrome [RCV003620828] |
Chr9:133352123 [GRCh38] Chr9:136218978 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-11T>C |
single nucleotide variant |
Leigh syndrome [RCV003620324] |
Chr9:133354752 [GRCh38] Chr9:136221607 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.426T>C (p.Pro142=) |
single nucleotide variant |
Leigh syndrome [RCV003620345] |
Chr9:133353838 [GRCh38] Chr9:136220693 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.432G>A (p.Arg144=) |
single nucleotide variant |
Leigh syndrome [RCV003620838] |
Chr9:133353832 [GRCh38] Chr9:136220687 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.361A>T (p.Lys121Ter) |
single nucleotide variant |
Leigh syndrome [RCV003620051] |
Chr9:133353903 [GRCh38] Chr9:136220758 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.30G>A (p.Gly10=) |
single nucleotide variant |
Leigh syndrome [RCV003620354] |
Chr9:133356424 [GRCh38] Chr9:136223300 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.372G>T (p.Gly124=) |
single nucleotide variant |
Leigh syndrome [RCV003835295] |
Chr9:133353892 [GRCh38] Chr9:136220747 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.129A>G (p.Arg43=) |
single nucleotide variant |
Leigh syndrome [RCV003856299] |
Chr9:133354935 [GRCh38] Chr9:136221790 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.511C>T (p.Leu171=) |
single nucleotide variant |
Leigh syndrome [RCV003620109] |
Chr9:133353753 [GRCh38] Chr9:136220608 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+19T>G |
single nucleotide variant |
Leigh syndrome [RCV003620286] |
Chr9:133352042 [GRCh38] Chr9:136218897 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-10T>G |
single nucleotide variant |
Leigh syndrome [RCV003620869] |
Chr9:133352618 [GRCh38] Chr9:136219473 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-11T>C |
single nucleotide variant |
Leigh syndrome [RCV003811048] |
Chr9:133352153 [GRCh38] Chr9:136219008 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.834-6C>T |
single nucleotide variant |
Leigh syndrome [RCV003620874] |
Chr9:133351988 [GRCh38] Chr9:136218843 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.107-4C>G |
single nucleotide variant |
Leigh syndrome [RCV003619537] |
Chr9:133354961 [GRCh38] Chr9:136221816 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.858C>T (p.Ser286=) |
single nucleotide variant |
Leigh syndrome [RCV003620151] |
Chr9:133351958 [GRCh38] Chr9:136218813 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.516-6C>T |
single nucleotide variant |
Leigh syndrome [RCV003620172] |
Chr9:133352772 [GRCh38] Chr9:136219627 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+16C>A |
single nucleotide variant |
Leigh syndrome [RCV003619369] |
Chr9:133356253 [GRCh38] Chr9:136223108 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.369G>C (p.Arg123Ser) |
single nucleotide variant |
Leigh syndrome [RCV003619587] |
Chr9:133353895 [GRCh38] Chr9:136220750 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.306T>G (p.Pro102=) |
single nucleotide variant |
Leigh syndrome [RCV003620193] |
Chr9:133354676 [GRCh38] Chr9:136221531 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.789C>G (p.Thr263=) |
single nucleotide variant |
Leigh syndrome [RCV003620726] |
Chr9:133352105 [GRCh38] Chr9:136218960 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.609C>T (p.Leu203=) |
single nucleotide variant |
Leigh syndrome [RCV003849749] |
Chr9:133352588 [GRCh38] Chr9:136219443 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.515+15T>A |
single nucleotide variant |
Leigh syndrome [RCV003620205] |
Chr9:133353734 [GRCh38] Chr9:136220589 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+12G>C |
single nucleotide variant |
Leigh syndrome [RCV003619481] |
Chr9:133354647 [GRCh38] Chr9:136221502 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+1G>A |
single nucleotide variant |
Leigh syndrome [RCV003619208] |
Chr9:133356399 [GRCh38] Chr9:136223275 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.576G>A (p.Arg192=) |
single nucleotide variant |
Leigh syndrome [RCV003620562] |
Chr9:133352706 [GRCh38] Chr9:136219561 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-12C>T |
single nucleotide variant |
Leigh syndrome [RCV003620570] |
Chr9:133352620 [GRCh38] Chr9:136219475 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.9G>A (p.Ala3=) |
single nucleotide variant |
Leigh syndrome [RCV003620486] |
Chr9:133356445 [GRCh38] Chr9:136223321 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.234A>G (p.Thr78=) |
single nucleotide variant |
Leigh syndrome [RCV003620491] |
Chr9:133354830 [GRCh38] Chr9:136221685 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+15C>T |
single nucleotide variant |
Leigh syndrome [RCV003620290] |
Chr9:133352679 [GRCh38] Chr9:136219534 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+8C>T |
single nucleotide variant |
Leigh syndrome [RCV003620497] |
Chr9:133356392 [GRCh38] Chr9:136223268 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.240+15C>T |
single nucleotide variant |
Leigh syndrome [RCV003620500] |
Chr9:133354809 [GRCh38] Chr9:136221664 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+16C>T |
single nucleotide variant |
Leigh syndrome [RCV003620621] |
Chr9:133352045 [GRCh38] Chr9:136218900 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.72C>T (p.Ala24=) |
single nucleotide variant |
Leigh syndrome [RCV003619373] |
Chr9:133356303 [GRCh38] Chr9:136223158 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.6_22dup (p.Gln8fs) |
duplication |
Leigh syndrome [RCV003619396] |
Chr9:133356431..133356432 [GRCh38] Chr9:136223307..136223308 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.828G>A (p.Val276=) |
single nucleotide variant |
Leigh syndrome [RCV003620557] |
Chr9:133352066 [GRCh38] Chr9:136218921 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.492T>A (p.Thr164=) |
single nucleotide variant |
Leigh syndrome [RCV003620639] |
Chr9:133353772 [GRCh38] Chr9:136220627 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+11G>A |
single nucleotide variant |
Leigh syndrome [RCV003851795] |
Chr9:133356389 [GRCh38] Chr9:136223265 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+40_55del |
deletion |
Leigh syndrome [RCV003620429] |
Chr9:133356320..133356360 [GRCh38] Chr9:136223175..136223215 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.54+16G>A |
single nucleotide variant |
Leigh syndrome [RCV003619295] |
Chr9:133356384 [GRCh38] Chr9:136223260 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.799C>T (p.Leu267=) |
single nucleotide variant |
Leigh syndrome [RCV003620198] |
Chr9:133352095 [GRCh38] Chr9:136218950 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.171A>G (p.Glu57=) |
single nucleotide variant |
Leigh syndrome [RCV003619402] |
Chr9:133354893 [GRCh38] Chr9:136221748 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+14T>G |
single nucleotide variant |
Leigh syndrome [RCV003619624] |
Chr9:133354645 [GRCh38] Chr9:136221500 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.588+8A>T |
single nucleotide variant |
Leigh syndrome [RCV003619635] |
Chr9:133352686 [GRCh38] Chr9:136219541 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.747C>T (p.Asn249=) |
single nucleotide variant |
Leigh syndrome [RCV003619478] |
Chr9:133352450 [GRCh38] Chr9:136219305 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Leigh syndrome [RCV003620271] |
Chr9:133356453 [GRCh38] Chr9:136223329 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.639G>A (p.Arg213=) |
single nucleotide variant |
Leigh syndrome [RCV003839077] |
Chr9:133352558 [GRCh38] Chr9:136219413 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.87C>T (p.Leu29=) |
single nucleotide variant |
Leigh syndrome [RCV003620308] |
Chr9:133356288 [GRCh38] Chr9:136223143 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.585C>T (p.Gly195=) |
single nucleotide variant |
Leigh syndrome [RCV003620310] |
Chr9:133352697 [GRCh38] Chr9:136219552 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.470dup (p.Ser158fs) |
duplication |
Leigh syndrome [RCV003619152] |
Chr9:133353793..133353794 [GRCh38] Chr9:136220648..136220649 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.323+18C>T |
single nucleotide variant |
Leigh syndrome [RCV003619996] |
Chr9:133354641 [GRCh38] Chr9:136221496 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.297G>C (p.Leu99=) |
single nucleotide variant |
Leigh syndrome [RCV003620015] |
Chr9:133354685 [GRCh38] Chr9:136221540 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.751+13C>T |
single nucleotide variant |
Leigh syndrome [RCV003619888] |
Chr9:133352433 [GRCh38] Chr9:136219288 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.831C>T (p.Thr277=) |
single nucleotide variant |
Leigh syndrome [RCV003619899] |
Chr9:133352063 [GRCh38] Chr9:136218918 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.694C>T (p.Leu232=) |
single nucleotide variant |
Leigh syndrome [RCV003619999] |
Chr9:133352503 [GRCh38] Chr9:136219358 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.55-4G>A |
single nucleotide variant |
Leigh syndrome [RCV003620446] |
Chr9:133356324 [GRCh38] Chr9:136223179 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-17C>T |
single nucleotide variant |
Leigh syndrome [RCV003620375] |
Chr9:133352625 [GRCh38] Chr9:136219480 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+18C>G |
single nucleotide variant |
Leigh syndrome [RCV003620466] |
Chr9:133352043 [GRCh38] Chr9:136218898 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+11G>T |
single nucleotide variant |
Leigh syndrome [RCV003620473] |
Chr9:133354648 [GRCh38] Chr9:136221503 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.795T>C (p.Val265=) |
single nucleotide variant |
Leigh syndrome [RCV003620607] |
Chr9:133352099 [GRCh38] Chr9:136218954 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.738T>C (p.Ile246=) |
single nucleotide variant |
Leigh syndrome [RCV003849988] |
Chr9:133352459 [GRCh38] Chr9:136219314 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.204C>T (p.Leu68=) |
single nucleotide variant |
Leigh syndrome [RCV003851819]|SURF1-related disorder [RCV004554926] |
Chr9:133354860 [GRCh38] Chr9:136221715 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.732C>T (p.Ile244=) |
single nucleotide variant |
Leigh syndrome [RCV003816260] |
Chr9:133352465 [GRCh38] Chr9:136219320 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.42G>A (p.Ala14=) |
single nucleotide variant |
Leigh syndrome [RCV003621407]|not provided [RCV004780621] |
Chr9:133356412 [GRCh38] Chr9:136223288 [GRCh37] Chr9:9q34.2 |
likely benign|uncertain significance |
NM_003172.4(SURF1):c.579_580del (p.Lys194fs) |
deletion |
Leigh syndrome [RCV003840984] |
Chr9:133352702..133352703 [GRCh38] Chr9:136219557..136219558 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.588+1G>C |
single nucleotide variant |
Leigh syndrome [RCV003621468] |
Chr9:133352693 [GRCh38] Chr9:136219548 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.501C>T (p.His167=) |
single nucleotide variant |
Leigh syndrome [RCV003621276] |
Chr9:133353763 [GRCh38] Chr9:136220618 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.240+1G>A |
single nucleotide variant |
Leigh syndrome [RCV003621292] |
Chr9:133354823 [GRCh38] Chr9:136221678 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.323+20C>T |
single nucleotide variant |
Leigh syndrome [RCV003862163] |
Chr9:133354639 [GRCh38] Chr9:136221494 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.241-15G>C |
single nucleotide variant |
Leigh syndrome [RCV003621031] |
Chr9:133354756 [GRCh38] Chr9:136221611 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.795_804dup (p.Asn269fs) |
duplication |
Leigh syndrome [RCV003621048] |
Chr9:133352089..133352090 [GRCh38] Chr9:136218944..136218945 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.814C>T (p.Leu272=) |
single nucleotide variant |
Leigh syndrome [RCV003621115] |
Chr9:133352080 [GRCh38] Chr9:136218935 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-20T>C |
single nucleotide variant |
Leigh syndrome [RCV003621116] |
Chr9:133352628 [GRCh38] Chr9:136219483 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.323+7G>C |
single nucleotide variant |
Leigh syndrome [RCV003864257] |
Chr9:133354652 [GRCh38] Chr9:136221507 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-17G>C |
single nucleotide variant |
Leigh syndrome [RCV003621231] |
Chr9:133352159 [GRCh38] Chr9:136219014 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.833+17C>T |
single nucleotide variant |
Leigh syndrome [RCV003621279] |
Chr9:133352044 [GRCh38] Chr9:136218899 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.12:g.133354954_133354958del |
deletion |
Leigh syndrome [RCV003621060] |
Chr9:133354952..133354956 [GRCh38] Chr9:136221807..136221811 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.589-5T>C |
single nucleotide variant |
Leigh syndrome [RCV003865518] |
Chr9:133352613 [GRCh38] Chr9:136219468 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.55-10G>A |
single nucleotide variant |
Leigh syndrome [RCV003845215] |
Chr9:133356330 [GRCh38] Chr9:136223185 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.751+16G>T |
single nucleotide variant |
Leigh syndrome [RCV003621338] |
Chr9:133352430 [GRCh38] Chr9:136219285 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.864G>T (p.Leu288=) |
single nucleotide variant |
Leigh syndrome [RCV003868008] |
Chr9:133351952 [GRCh38] Chr9:136218807 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.533dup (p.Asn178fs) |
duplication |
Leigh syndrome [RCV003864153] |
Chr9:133352748..133352749 [GRCh38] Chr9:136219603..136219604 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.107-15T>C |
single nucleotide variant |
Leigh syndrome [RCV003856933] |
Chr9:133354972 [GRCh38] Chr9:136221827 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.24G>A (p.Gln8=) |
single nucleotide variant |
Leigh syndrome [RCV003863362] |
Chr9:133356430 [GRCh38] Chr9:136223306 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.606C>T (p.Asp202=) |
single nucleotide variant |
Leigh syndrome [RCV003621271] |
Chr9:133352591 [GRCh38] Chr9:136219446 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.107-17G>A |
single nucleotide variant |
Leigh syndrome [RCV003621323] |
Chr9:133354974 [GRCh38] Chr9:136221829 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.106+15_106+16insA |
insertion |
Leigh syndrome [RCV003844251] |
Chr9:133356253..133356254 [GRCh38] Chr9:136223108..136223109 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.202C>T (p.Leu68Phe) |
single nucleotide variant |
Leigh syndrome [RCV003853010] |
Chr9:133354862 [GRCh38] Chr9:136221717 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.654T>C (p.Pro218=) |
single nucleotide variant |
Leigh syndrome [RCV003857940] |
Chr9:133352543 [GRCh38] Chr9:136219398 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.12:g.133352606_133352609del |
deletion |
Leigh syndrome [RCV003621003] |
Chr9:133352604..133352607 [GRCh38] Chr9:136219459..136219462 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.323+9A>C |
single nucleotide variant |
Leigh syndrome [RCV003621028] |
Chr9:133354650 [GRCh38] Chr9:136221505 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.535dup (p.Arg179fs) |
duplication |
Charcot-Marie-Tooth disease type 4K [RCV004690452]|Leigh syndrome [RCV003621063] |
Chr9:133352746..133352747 [GRCh38] Chr9:136219601..136219602 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_003172.4(SURF1):c.444G>A (p.Glu148=) |
single nucleotide variant |
Leigh syndrome [RCV003861161] |
Chr9:133353820 [GRCh38] Chr9:136220675 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.648T>C (p.Phe216=) |
single nucleotide variant |
Leigh syndrome [RCV003621245] |
Chr9:133352549 [GRCh38] Chr9:136219404 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-19C>G |
single nucleotide variant |
Leigh syndrome [RCV003621387] |
Chr9:133352627 [GRCh38] Chr9:136219482 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.589-9C>T |
single nucleotide variant |
Leigh syndrome [RCV003821061] |
Chr9:133352617 [GRCh38] Chr9:136219472 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.34C>A (p.Arg12=) |
single nucleotide variant |
Leigh syndrome [RCV003621441] |
Chr9:133356420 [GRCh38] Chr9:136223296 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-8C>T |
single nucleotide variant |
Leigh syndrome [RCV003858519] |
Chr9:133352150 [GRCh38] Chr9:136219005 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.752-20dup |
duplication |
Leigh syndrome [RCV003621444] |
Chr9:133352161..133352162 [GRCh38] Chr9:136219016..136219017 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.54+10G>C |
single nucleotide variant |
Leigh syndrome [RCV003843635] |
Chr9:133356390 [GRCh38] Chr9:136223266 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_003172.4(SURF1):c.657_658del (p.Asn220fs) |
microsatellite |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003988901] |
Chr9:133352539..133352540 [GRCh38] Chr9:136219394..136219395 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.665C>T (p.Pro222Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004461156] |
Chr9:133352532 [GRCh38] Chr9:136219387 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.731T>C (p.Ile244Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004461159]|not provided [RCV004697338] |
Chr9:133352466 [GRCh38] Chr9:136219321 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.583G>A (p.Gly195Ser) |
single nucleotide variant |
not specified [RCV004526315] |
Chr9:133352699 [GRCh38] Chr9:136219554 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.827_828del (p.Val276fs) |
deletion |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV003989989] |
Chr9:133352066..133352067 [GRCh38] Chr9:136218921..136218922 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_003172.4(SURF1):c.727C>T (p.Pro243Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004461157] |
Chr9:133352470 [GRCh38] Chr9:136219325 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NC_000009.11:g.(?_131678355)_(140095163_?)dup |
duplication |
not provided [RCV004582063] |
Chr9:131678355..140095163 [GRCh37] Chr9:9q34.11-34.3 |
uncertain significance |
NM_003172.4(SURF1):c.530T>G (p.Val177Gly) |
single nucleotide variant |
Leigh syndrome [RCV004690690] |
Chr9:133352752 [GRCh38] Chr9:136219607 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.23A>T (p.Gln8Leu) |
single nucleotide variant |
not specified [RCV004690691] |
Chr9:133356431 [GRCh38] Chr9:136223307 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.584G>C (p.Gly195Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004668381] |
Chr9:133352698 [GRCh38] Chr9:136219553 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.893C>T (p.Pro298Leu) |
single nucleotide variant |
not specified [RCV004699767] |
Chr9:133351923 [GRCh38] Chr9:136218778 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.632A>G (p.Glu211Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004681764] |
Chr9:133352565 [GRCh38] Chr9:136219420 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.587A>G (p.Gln196Arg) |
single nucleotide variant |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV004594971] |
Chr9:133352695 [GRCh38] Chr9:136219550 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_003172.4(SURF1):c.722C>T (p.Ala241Val) |
single nucleotide variant |
not specified [RCV004690558] |
Chr9:133352475 [GRCh38] Chr9:136219330 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.79A>G (p.Ser27Gly) |
single nucleotide variant |
not provided [RCV004793220] |
Chr9:133356296 [GRCh38] Chr9:136223151 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720481] |
Chr9:137552409..138059181 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113) |
copy number loss |
Kleefstra syndrome 1 [RCV004720482] |
Chr9:137552409..138052113 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529) |
copy number loss |
Kleefstra syndrome 1 [RCV004720485] |
Chr9:137552082..137728529 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
NM_003172.4(SURF1):c.539G>A (p.Gly180Glu) |
single nucleotide variant |
not specified [RCV004702738] |
Chr9:133352743 [GRCh38] Chr9:136219598 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_003172.4(SURF1):c.536G>A (p.Arg179Lys) |
single nucleotide variant |
not provided [RCV004729488] |
Chr9:133352746 [GRCh38] Chr9:136219601 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525) |
copy number loss |
Kleefstra syndrome 1 [RCV004720478] |
Chr9:137590213..137817525 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720480] |
Chr9:136926151..138059181 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159) |
copy number loss |
Kleefstra syndrome 1 [RCV004720487] |
Chr9:137552409..137879159 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188) |
copy number loss |
Kleefstra syndrome 1 [RCV004720477] |
Chr9:137590213..138052188 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
NM_003172.4(SURF1):c.782_791del (p.Gly261fs) |
deletion |
Mitochondrial complex IV deficiency, nuclear type 1 [RCV004764578] |
Chr9:133352103..133352112 [GRCh38] Chr9:136218958..136218967 [GRCh37] Chr9:9q34.2 |
pathogenic |