Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_024996.7(GFM1):c.-85C>T | 85476 | GFM1 | Uncertain significance | rs893145449 | RCV001147126; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362339 | 158362339 | | | 3:g.158362339C>T | - | | |
NM_024996.7(GFM1):c.-73C>T | 85476 | GFM1 | Likely benign | rs116614958 | RCV000331237; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362351 | 158362351 | | | NC_000003.11:g.158362351C>T | ClinGen:CA10617804 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.-66C>G | 85476 | GFM1 | Uncertain significance | rs564879457 | RCV001147127; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362358 | 158362358 | | | 3:g.158362358C>G | - | | |
NM_024996.7(GFM1):c.-38C>T | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs377352238 | RCV000125229|RCV000389427; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362386 | 158362386 | | | 3:g.158362386C>T | ClinGen:CA291068 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.-33C>T | 85476 | GFM1 | Benign | rs28372852 | RCV000295077|RCV001672626; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158362391 | 158362391 | | | NC_000003.11:g.158362391C>T | ClinGen:CA2682172 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.-31A>G | 85476 | GFM1 | Benign | rs28372853 | RCV000125230|RCV000336135; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362393 | 158362393 | | | 3:g.158362393A>G | ClinGen:CA291069 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.-11C>T | 85476 | GFM1 | Benign/Likely benign | rs112860155 | RCV000125231|RCV000396594; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362413 | 158362413 | | | 3:g.158362413C>T | ClinGen:CA291070 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.3G>A (p.Met1Ile) | 85476 | GFM1 | Pathogenic | rs863224030 | RCV000196656|RCV001273487; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362426 | 158362426 | | | NC_000003.11:g.158362426G>A | ClinGen:CA321080 | CN517202 not provided; | |
NM_024996.7(GFM1):c.18T>C (p.Ala6=) | 85476 | GFM1 | Benign | rs1864507 | RCV000282348|RCV000676466|RCV001795958; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MedGen:CN169374 | 3 | 158362441 | 158362441 | | | NC_000003.11:g.158362441T>C | ClinGen:CA2682184 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.54del (p.Ala19fs) | 85476 | GFM1 | Pathogenic/Likely pathogenic | rs765266988 | RCV000826110|RCV002538243; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158362473 | 158362473 | | | 3:g.158362473_158362473del | - | | |
NM_024996.7(GFM1):c.51C>T (p.Ala17=) | 85476 | GFM1 | Likely benign | rs937454854 | RCV000932460|RCV001272457; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362474 | 158362474 | | | 3:g.158362474C>T | - | | |
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs567086019 | RCV000337390|RCV000943185; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158362479 | 158362479 | | | NC_000003.11:g.158362479C>T | ClinGen:CA2682193 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) | 85476 | GFM1 | Benign | rs574200635 | RCV000195533|RCV000398210|RCV000915754; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158362500 | 158362500 | | | NC_000003.11:g.158362500A>G | ClinGen:CA319884 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.81+1G>A | 85476 | GFM1 | Likely pathogenic | -1 | RCV001378369|RCV001831352; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362505 | 158362505 | | | 158362505 | - | | |
NM_024996.7(GFM1):c.81+5C>T | 85476 | GFM1 | Uncertain significance | rs886058119 | RCV000301848; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158362509 | 158362509 | | | NC_000003.11:g.158362509C>T | ClinGen:CA10617811 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.81+22A>G | 85476 | GFM1 | Benign | -1 | RCV001543940|RCV001655851; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158362526 | 158362526 | | | 158362526 | - | | |
NM_024996.7(GFM1):c.81+84C>G | 85476 | GFM1 | Benign | -1 | RCV001543941|RCV001713120; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158362588 | 158362588 | | | 158362588 | - | | |
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) | 85476 | GFM1 | Pathogenic/Likely pathogenic | -1 | RCV001953530|RCV003146413; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158363425 | 158363435 | | | 158363424 | - | | |
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) | 85476 | GFM1 | Pathogenic/Likely pathogenic | rs766234016 | RCV001002683|RCV002549188; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158363436 | 158363436 | | | 3:g.158363436C>T | - | | |
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) | 85476 | GFM1 | Benign/Likely benign | rs35942089 | RCV000125223|RCV000361226|RCV000964843; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158363463 | 158363463 | | | 3:g.158363463A>G | ClinGen:CA291058 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) | 85476 | GFM1 | Pathogenic | rs119470019 | RCV000004378|RCV001207728; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158363475 | 158363475 | | | 3:g.158363475C>T | ClinGen:CA210485,OMIM:606639.0002 | C1836797 609060 Combined oxidative phosphorylation deficiency 1; | |
NM_024996.7(GFM1):c.192A>G (p.Glu64=) | 85476 | GFM1 | Likely benign | rs1576720639 | RCV000960840|RCV001832207; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158363528 | 158363528 | | | 3:g.158363528A>G | - | | |
NM_024996.7(GFM1):c.193C>A (p.Arg65=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs62286651 | RCV000676467|RCV001148014; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158363529 | 158363529 | | | 3:g.158363529C>A | - | CN517202 not provided; | |
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser) | 85476 | GFM1 | Likely benign | rs140377587 | RCV000923394|RCV001272458; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158363556 | 158363556 | | | 3:g.158363556G>T | - | | |
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly) | 85476 | GFM1 | Uncertain significance | rs778603797 | RCV001280043; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158363557 | 158363557 | | | 3:g.158363557C>G | - | | |
NM_024996.7(GFM1):c.234+12C>T | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs372189223 | RCV000398325|RCV002057851; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158363582 | 158363582 | | | NC_000003.11:g.158363582C>T | ClinGen:CA2682258 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.235-14G>A | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs201304690 | RCV000198372|RCV000307563|RCV002054327; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158363940 | 158363940 | | | NC_000003.11:g.158363940G>A | ClinGen:CA322880 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) | 85476 | GFM1 | Pathogenic | rs1576721522 | RCV001002680; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158363967 | 158363967 | | | 3:g.158363967A>T | - | | |
NM_024996.7(GFM1):c.273del (p.Met92fs) | 85476 | GFM1 | Pathogenic/Likely pathogenic | rs863224033 | RCV000200452|RCV002500612; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158363991 | 158363991 | | | NC_000003.11:g.158363992del | ClinGen:CA325026 | CN517202 not provided; | |
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | -1 | RCV001563841|RCV002072149|RCV002568428; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 3 | 158364063 | 158364063 | | | 158364063 | - | | |
NM_024996.7(GFM1):c.373G>A (p.Val125Met) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs200923387 | RCV000362292|RCV000942298; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158364537 | 158364537 | | | NC_000003.11:g.158364537G>A | ClinGen:CA2682322 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala) | 85476 | GFM1 | Likely pathogenic | rs1553847587 | RCV000625929; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158364559 | 158364559 | | | NC_000003.11:g.158364559A>C | ClinGen:CA355175789 | C1836797 609060 Combined oxidative phosphorylation deficiency 1; | |
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser) | 85476 | GFM1 | Uncertain significance | rs1721844379 | RCV001329387; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158364572 | 158364572 | | | 158364572 | - | | |
NM_024996.7(GFM1):c.409G>A (p.Val137Met) | 85476 | GFM1 | Pathogenic | -1 | RCV001449659; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158364573 | 158364573 | | | 158364573 | - | | |
NM_024996.7(GFM1):c.424del (p.Val142fs) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs886058120 | RCV000272222|RCV000814936; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158364588 | 158364588 | | | NC_000003.11:g.158364588del | ClinGen:CA10615638 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.443T>C (p.Val148Ala) | 85476 | GFM1 | Uncertain significance | rs758591202 | RCV001280044; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158364607 | 158364607 | | | 3:g.158364607T>C | - | | |
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) | 85476 | GFM1 | Benign | rs34297061 | RCV000125225|RCV000224568|RCV000999807; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158364640 | 158364640 | | | 3:g.158364640A>G | ClinGen:CA291061 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.498C>T (p.Asn166=) | 85476 | GFM1 | Likely benign | rs762364300 | RCV000983429|RCV001836054; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158364662 | 158364662 | | | 3:g.158364662C>T | - | | |
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) | 85476 | GFM1 | Likely pathogenic | rs119470018 | RCV000004377|RCV000657878; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158364685 | 158364685 | | | 3:g.158364685A>G | ClinGen:CA210484,UniProtKB:Q96RP9#VAR_021512,OMIM:606639.0001 | C1836797 609060 Combined oxidative phosphorylation deficiency 1; | |
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) | 85476 | GFM1 | Benign/Likely benign | rs75450876 | RCV000125226|RCV000224632|RCV000368039; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158364732 | 158364732 | | | 3:g.158364732A>C | ClinGen:CA291063 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.573-1G>C | 85476 | GFM1 | Conflicting interpretations of pathogenicity | -1 | RCV001379654|RCV001831371; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158366829 | 158366829 | | | 158366829 | - | | |
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) | 85476 | GFM1 | Uncertain significance | rs145247687 | RCV001149555; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158366853 | 158366853 | | | 3:g.158366853C>T | - | | |
NM_024996.7(GFM1):c.607A>G (p.Ile203Val) | 85476 | GFM1 | Uncertain significance | rs1722079229 | RCV001195913; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158366864 | 158366864 | | | 3:g.158366864A>G | - | | |
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) | 85476 | GFM1 | Uncertain significance | rs1722080493 | RCV001280045; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158366873 | 158366873 | | | 3:g.158366873G>T | - | | |
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs191462023 | RCV000198516|RCV000764473; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158366879 | 158366879 | | | 3:g.158366879G>A | ClinGen:CA323024 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) | 85476 | GFM1 | Benign | rs2303909 | RCV000676468|RCV000987347|RCV001795959; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN169374 | 3 | 158366900 | 158366900 | | | 3:g.158366900G>A | ClinGen:CA2682376,UniProtKB:Q96RP9#VAR_028303 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.667A>G (p.Ile223Val) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs143446452 | RCV000918367|RCV001272459; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158366924 | 158366924 | | | 3:g.158366924A>G | - | | |
NM_024996.7(GFM1):c.689+891C>T | 85476 | GFM1 | Benign | -1 | RCV001543942|RCV001694070; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158367837 | 158367837 | | | 158367837 | - | | |
NM_024996.7(GFM1):c.690-87A>G | 85476 | GFM1 | Benign | -1 | RCV001543943|RCV001647392; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158369798 | 158369798 | | | 158369798 | - | | |
NM_024996.7(GFM1):c.690-5C>G | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs201685981 | RCV000197431|RCV000415998|RCV001001208; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369880 | 158369880 | | | 3:g.158369880C>G | ClinGen:CA321899 | CN517202 not provided; | |
NM_024996.7(GFM1):c.690_693del | 85476 | GFM1 | Pathogenic/Likely pathogenic | -1 | RCV001932580|RCV002506920; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369883 | 158369886 | | | 158369882 | - | | |
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) | 85476 | GFM1 | Pathogenic | rs863224032 | RCV000198570|RCV000995549; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369895 | 158369895 | | | 3:g.158369895C>T | ClinGen:CA323089 | CN517202 not provided; | |
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) | 85476 | GFM1 | Uncertain significance | rs1202361363 | RCV001145270; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369896 | 158369896 | | | 3:g.158369896G>A | - | | |
NM_024996.7(GFM1):c.702A>G (p.Arg234=) | 85476 | GFM1 | Uncertain significance | rs377418512 | RCV000388686; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369897 | 158369897 | | | NC_000003.11:g.158369897A>G | ClinGen:CA2682405 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.720del (p.Glu241fs) | 85476 | GFM1 | Pathogenic | rs745718158 | RCV000809691|RCV001273488; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369915 | 158369915 | | | 3:g.158369915_158369915del | - | | |
NM_024996.7(GFM1):c.748del (p.Arg250fs) | 85476 | GFM1 | Likely pathogenic | -1 | RCV001580712; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369942 | 158369942 | | | 158369941 | - | | |
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) | 85476 | GFM1 | Pathogenic | rs139430866 | RCV000800330|RCV000851197|RCV000023564; | N | MedGen:CN517202|MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369943 | 158369943 | | | 3:g.158369943C>T | ClinGen:CA210569,UniProtKB:Q96RP9#VAR_076198,OMIM:606639.0004 | C1836797 609060 Combined oxidative phosphorylation deficiency 1; | |
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) | 85476 | GFM1 | Benign/Likely benign | rs115984741 | RCV000886511|RCV001272460; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158369983 | 158369983 | | | 3:g.158369983A>G | - | | |
NM_024996.7(GFM1):c.825G>A (p.Ser275=) | 85476 | GFM1 | Uncertain significance | rs1722357550 | RCV001280046; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158370020 | 158370020 | | | 3:g.158370020G>A | - | | |
NM_024996.7(GFM1):c.829dup (p.Ser277fs) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs771865940 | RCV000416186|RCV000779394; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158370021 | 158370022 | | | NC_000003.11:g.158370024dup | ClinGen:CA2682429 | | |
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe) | 85476 | GFM1 | Uncertain significance | -1 | RCV003131016; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158370025 | 158370025 | | | NC_000003.11:g.158370025C>T | - | | |
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu) | 85476 | GFM1 | Uncertain significance | rs1722451256 | RCV001199013; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158371139 | 158371139 | | | 3:g.158371139C>T | - | | |
NM_024996.7(GFM1):c.897C>T (p.Ser299=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs763546447 | RCV000280136|RCV001453939; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158371155 | 158371155 | | | NC_000003.11:g.158371155C>T | ClinGen:CA2682451 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) | 85476 | GFM1 | Likely pathogenic | rs1722463582 | RCV001089485; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158371210 | 158371210 | | | 3:g.158371210C>T | - | | |
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala) | 85476 | GFM1 | Pathogenic | rs781397040 | RCV001002678; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158371216 | 158371216 | | | 3:g.158371216C>G | ClinVar:812088 | | |
NM_024996.7(GFM1):c.960A>C (p.Pro320=) | 85476 | GFM1 | Benign/Likely benign | rs145970222 | RCV000195750|RCV000316489|RCV000910628; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158371218 | 158371218 | | | NC_000003.11:g.158371218A>C | ClinGen:CA320120 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.987C>A (p.Leu329=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs531887279 | RCV000376033|RCV000933080; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158371245 | 158371245 | | | NC_000003.11:g.158371245C>A | ClinGen:CA2682465 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.997_998+2del | 85476 | GFM1 | Likely pathogenic | rs763084523 | RCV001209160|RCV001833837; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158371255 | 158371258 | | | 3:g.158371255_158371258del | - | | |
NM_024996.7(GFM1):c.999-1G>A | 85476 | GFM1 | Likely pathogenic | -1 | RCV001377804|RCV001836383; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158372335 | 158372335 | | | 158372335 | - | | |
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs373952002 | RCV000281525|RCV000429176|RCV000952513; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN169374|MedGen:CN517202 | 3 | 158372369 | 158372369 | | | NC_000003.11:g.158372369C>T | ClinGen:CA2682491 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1083+3A>G | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs187690169 | RCV000341073|RCV001636960|RCV002523249; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 3 | 158372423 | 158372423 | | | 3:g.158372423A>G | ClinGen:CA2682500 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1083+6T>G | 85476 | GFM1 | Benign | rs142919829 | RCV000125222|RCV000390538|RCV000676469; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158372426 | 158372426 | | | 3:g.158372426T>G | ClinGen:CA291057 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1083+8G>T | 85476 | GFM1 | Likely benign | rs753905803 | RCV000944842|RCV001272461; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158372428 | 158372428 | | | 3:g.158372428G>T | - | | |
NM_024996.7(GFM1):c.1083+57C>T | 85476 | GFM1 | Benign | -1 | RCV001543944|RCV001638146; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158372477 | 158372477 | | | 158372477 | - | | |
NM_024996.7(GFM1):c.1083+82T>C | 85476 | GFM1 | Benign | -1 | RCV001543945|RCV001713121; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158372502 | 158372502 | | | 158372502 | - | | |
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) | 85476 | GFM1 | Likely benign | rs142843314 | RCV000891379|RCV001272462; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158376729 | 158376729 | | | 3:g.158376729T>C | - | | |
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn) | 85476 | GFM1 | Uncertain significance | rs1023544297 | RCV001147219; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158376745 | 158376745 | | | 3:g.158376745G>A | - | | |
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) | 85476 | GFM1 | Pathogenic | rs1576745248 | RCV001002681; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158376772 | 158376783 | | | 3:g.158376772_158376783del | - | | |
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) | 85476 | GFM1 | Uncertain significance | rs183140307 | RCV001241465|RCV001836211; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158376807 | 158376807 | | | 3:g.158376807C>T | - | | |
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) | 85476 | GFM1 | Uncertain significance | rs374335959 | RCV001280047|RCV002542941; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158376825 | 158376825 | | | 3:g.158376825C>T | - | | |
NM_024996.7(GFM1):c.1209C>T (p.Ala403=) | 85476 | GFM1 | Benign | rs149949638 | RCV000197193|RCV000946773|RCV001147220; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158376836 | 158376836 | | | 3:g.158376836C>T | ClinGen:CA321638 | CN169374 not specified; | |
NM_024996.7(GFM1):c.1209C>A (p.Ala403_Asp404=) | 85476 | GFM1 | Uncertain significance | -1 | RCV003135362; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158376836 | 158376836 | | | NC_000003.11:g.158376836C>A | - | | |
NM_024996.7(GFM1):c.1221+20G>A | 85476 | GFM1 | Uncertain significance | rs1412836196 | RCV001329385; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158376868 | 158376868 | | | 158376868 | - | | |
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val) | 85476 | GFM1 | Uncertain significance | -1 | RCV001558686|RCV001832761|RCV002568379; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MeSH:D030342,MedGen:C0950123 | 3 | 158378697 | 158378697 | | | 158378697 | - | | |
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) | 85476 | GFM1 | Pathogenic | rs866604517 | RCV001002676|RCV001384808; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158378735 | 158378738 | | | 3:g.158378735_158378738del | - | | |
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs141368418 | RCV000941272|RCV001147221; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158378746 | 158378746 | | | 3:g.158378746C>G | - | | |
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) | 85476 | GFM1 | Likely benign | rs1187874654 | RCV000917135|RCV001272463; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158378749 | 158378749 | | | 3:g.158378749C>T | - | | |
NM_024996.7(GFM1):c.1323+72A>G | 85476 | GFM1 | Benign | -1 | RCV001543946|RCV001619959; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158378836 | 158378836 | | | 158378836 | - | | |
NM_024996.7(GFM1):c.1323+83A>G | 85476 | GFM1 | Benign | rs2291595 | RCV000830746|RCV001543947; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158378847 | 158378847 | | | 3:g.158378847A>G | - | | |
NM_024996.7(GFM1):c.1324-15T>A | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs375168014 | RCV000286924|RCV000424127|RCV002057852; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN169374|MedGen:CN517202 | 3 | 158380402 | 158380402 | | | 3:g.158380402T>A | ClinGen:CA2682612 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter) | 85476 | GFM1 | Pathogenic | rs757691557 | RCV001329386; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158380417 | 158380417 | | | 158380417 | - | | |
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) | 85476 | GFM1 | Likely benign | rs146951325 | RCV000341858|RCV000911472; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158380436 | 158380436 | | | 3:g.158380436A>G | ClinGen:CA2682618 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) | 85476 | GFM1 | Likely benign | rs774280744 | RCV000904804|RCV001272464; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158380461 | 158380461 | | | 3:g.158380461G>A | - | | |
NM_024996.7(GFM1):c.1383C>T (p.Asn461=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | -1 | RCV001480040|RCV001563842; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383128 | 158383128 | | | 158383128 | - | | |
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) | 85476 | GFM1 | Uncertain significance | rs200244667 | RCV000395721|RCV001526738; | N | MONDO:MONDO:0000732,MedGen:C4540031,OMIM:PS609060|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383129 | 158383129 | | | 3:g.158383129G>T | ClinGen:CA2682647 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) | 85476 | GFM1 | Uncertain significance | rs886058121 | RCV000306955; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383130 | 158383130 | | | 3:g.158383130A>G | ClinGen:CA10617841 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1404del (p.Gly469fs) | 85476 | GFM1 | Pathogenic | rs779877297 | RCV001002677|RCV001869432; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158383146 | 158383146 | | | 3:g.158383146_158383146del | - | | |
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) | 85476 | GFM1 | Uncertain significance | rs750855220 | RCV000366352|RCV002520101; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158383151 | 158383151 | | | 3:g.158383151G>A | ClinGen:CA2682652 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr) | 85476 | GFM1 | Uncertain significance | rs138058648 | RCV000757328|RCV001825499; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383174 | 158383174 | | | NC_000003.11:g.158383174G>T | - | | |
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg) | 85476 | GFM1 | Pathogenic | rs119470020 | RCV000004379; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383232 | 158383232 | | | 3:g.158383232T>G | OMIM:606639.0003,ClinGen:CA210487,UniProtKB:Q96RP9#VAR_031901 | C1836797 609060 Combined oxidative phosphorylation deficiency 1; | |
NM_024996.7(GFM1):c.1494A>G (p.Glu498=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs149454742 | RCV000897890|RCV001148119; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383239 | 158383239 | | | 3:g.158383239A>G | ClinGen:CA2682670 | CN169374 not specified; | |
NM_024996.7(GFM1):c.1510del (p.Tyr504fs) | 85476 | GFM1 | Pathogenic | -1 | RCV001783359; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383255 | 158383255 | | | 158383254 | - | | |
NM_024996.7(GFM1):c.1518+1G>A | 85476 | GFM1 | Uncertain significance | rs1560135491 | RCV000779395; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158383264 | 158383264 | | | NC_000003.11:g.158383264G>A | - | | |
NM_024996.7(GFM1):c.1519-25A>G | 85476 | GFM1 | Benign | -1 | RCV001543948|RCV001655852; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158384068 | 158384068 | | | 158384068 | - | | |
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) | 85476 | GFM1 | Pathogenic | rs1576757241 | RCV001002682; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158384120 | 158384120 | | | 3:g.158384120T>C | - | | |
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) | 85476 | GFM1 | Pathogenic | rs143031224 | RCV001002684; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158384145 | 158384145 | | | 3:g.158384145C>T | - | | |
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) | 85476 | GFM1 | Pathogenic | -1 | RCV001381644|RCV001831380; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158384150 | 158384150 | | | 158384150 | - | | |
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) | 85476 | GFM1 | Benign/Likely benign | rs114754676 | RCV000197206|RCV000883125|RCV001148120; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158384167 | 158384167 | | | 3:g.158384167C>T | ClinGen:CA321648 | CN169374 not specified; | |
NM_024996.7(GFM1):c.1601+9G>C | 85476 | GFM1 | Benign | rs77186707 | RCV000125224|RCV000400146|RCV000676470; | N | MedGen:CN169374|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158384184 | 158384184 | | | 3:g.158384184G>C | ClinGen:CA291060 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1765-2_1765-1del | 85476 | GFM1 | Pathogenic | rs1245712932 | RCV001223407|RCV001833935; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158402311 | 158402312 | | | 3:g.158402311_158402312del | - | | |
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr) | 85476 | GFM1 | Uncertain significance | rs1576790457 | RCV000987348; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158402329 | 158402329 | | | 3:g.158402329G>A | - | | |
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs762576741 | RCV000987349|RCV002550600; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158402370 | 158402370 | | | 3:g.158402370C>T | - | | |
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln) | 85476 | GFM1 | Uncertain significance | -1 | RCV001449604|RCV001865913; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158402371 | 158402371 | | | 158402371 | - | | |
NM_024996.7(GFM1):c.1830C>T (p.Val610=) | 85476 | GFM1 | Likely benign | rs139680551 | RCV000980112|RCV001832275; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158402378 | 158402378 | | | 3:g.158402378C>T | - | | |
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs190393538 | RCV000312996|RCV001521349; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158402379 | 158402379 | | | 3:g.158402379C>T | ClinGen:CA2683004 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.1852A>G (p.Met618Val) | 85476 | GFM1 | Uncertain significance | rs767798328 | RCV001148121; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158402400 | 158402400 | | | 3:g.158402400A>G | - | | |
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro) | 85476 | GFM1 | Uncertain significance | -1 | RCV002465084; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158402445 | 158402445 | | | NC_000003.11:g.158402445G>C | - | | |
NM_024996.7(GFM1):c.1910-2A>T | 85476 | GFM1 | Likely pathogenic | -1 | RCV001377756|RCV001826130; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158407950 | 158407950 | | | 158407950 | - | | |
NM_024996.7(GFM1):c.1910-1G>A | 85476 | GFM1 | Uncertain significance | rs1462851267 | RCV000779396; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158407951 | 158407951 | | | NC_000003.11:g.158407951G>A | - | | |
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) | 85476 | GFM1 | Pathogenic | rs1390685552 | RCV001002679; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158407964 | 158407964 | | | 3:g.158407964C>A | ClinVar:812089 | | |
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) | 85476 | GFM1 | Uncertain significance | rs147847472 | RCV001148122|RCV002559421|RCV002557175; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 3 | 158407990 | 158407990 | | | 3:g.158407990A>G | - | | |
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) | 85476 | GFM1 | Benign/Likely benign | rs62288347 | RCV000125227|RCV000676471|RCV000999813; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158408032 | 158408032 | | | 3:g.158408032G>A | ClinGen:CA291065 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) | 85476 | GFM1 | Pathogenic | rs201408725 | RCV000197077|RCV000763507; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158408053 | 158408053 | | | 3:g.158408053C>T | ClinGen:CA321516 | CN517202 not provided; | |
NM_024996.7(GFM1):c.2016T>C (p.His672=) | 85476 | GFM1 | Benign | rs755853174 | RCV000921294|RCV001825858; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158408058 | 158408058 | | | 3:g.158408058T>C | - | | |
NM_024996.7(GFM1):c.2070+11T>G | 85476 | GFM1 | Benign/Likely benign | rs150000838 | RCV001148123|RCV001673019; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158408123 | 158408123 | | | 3:g.158408123T>G | - | | |
NM_024996.7(GFM1):c.2071-17A>G | 85476 | GFM1 | Benign/Likely benign | rs76679758 | RCV000125228|RCV002055557|RCV002483248; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158408911 | 158408911 | | | 3:g.158408911A>G | ClinGen:CA291067 | CN169374 not specified; | |
NM_024996.7(GFM1):c.2143A>G (p.Met715Val) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | -1 | RCV001665161|RCV001827557; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409143 | 158409143 | | | 158409143 | - | | |
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu) | 85476 | GFM1 | Uncertain significance | rs764933537 | RCV000199524|RCV001835722; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409165 | 158409165 | | | 3:g.158409165C>T | ClinGen:CA324068 | CN169374 not specified; | |
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) | 85476 | GFM1 | Conflicting interpretations of pathogenicity | rs149049400 | RCV000275898|RCV000913641; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158409190 | 158409190 | | | 3:g.158409190C>T | ClinGen:CA2683128 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.2232del (p.Gly747fs) | 85476 | GFM1 | Uncertain significance | rs863224034 | RCV000198766|RCV001833146; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409231 | 158409231 | | | 3:g.158409231_158409231del | ClinGen:CA323296 | CN517202 not provided; | |
NM_024996.7(GFM1):c.*6C>T | 85476 | GFM1 | Benign | rs1047355 | RCV000317038|RCV000676472|RCV001795960; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202|MedGen:CN169374 | 3 | 158409262 | 158409262 | | | NC_000003.11:g.158409262C>T | ClinGen:CA2683135 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*116C>T | 85476 | GFM1 | Likely benign | rs115593809 | RCV001149673|RCV001569157; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158409372 | 158409372 | | | 3:g.158409372C>T | - | | |
NM_024996.7(GFM1):c.*119G>A | 85476 | GFM1 | Uncertain significance | rs886058122 | RCV000353040; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409375 | 158409375 | | | NC_000003.11:g.158409375G>A | ClinGen:CA10617845 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*164C>A | 85476 | GFM1 | Uncertain significance | rs924668466 | RCV001149674; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409420 | 158409420 | | | 3:g.158409420C>A | - | | |
NM_024996.7(GFM1):c.*226C>T | 85476 | GFM1 | Benign | rs1047366 | RCV000262965|RCV001613134; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681|MedGen:CN517202 | 3 | 158409482 | 158409482 | | | NC_000003.11:g.158409482C>T | ClinGen:CA10617846 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*245A>C | 85476 | GFM1 | Uncertain significance | rs886058123 | RCV000317976; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409501 | 158409501 | | | NC_000003.11:g.158409501A>C | ClinGen:CA10615640 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*429C>T | 85476 | GFM1 | Uncertain significance | rs914802350 | RCV001145360; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409685 | 158409685 | | | 3:g.158409685C>T | - | | |
NM_024996.7(GFM1):c.*539C>T | 85476 | GFM1 | Likely benign | rs75254073 | RCV001145361; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409795 | 158409795 | | | 3:g.158409795C>T | - | | |
NM_024996.7(GFM1):c.*559T>C | 85476 | GFM1 | Uncertain significance | rs886058124 | RCV000323880; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409815 | 158409815 | | | NC_000003.11:g.158409815T>C | ClinGen:CA10617859 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*572A>G | 85476 | GFM1 | Uncertain significance | rs1726365121 | RCV001145362; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409828 | 158409828 | | | 3:g.158409828A>G | - | | |
NM_024996.7(GFM1):c.*578C>T | 85476 | GFM1 | Uncertain significance | rs758670778 | RCV000378782; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409834 | 158409834 | | | NC_000003.11:g.158409834C>T | ClinGen:CA10617860 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*635A>T | 85476 | GFM1 | Uncertain significance | rs1398384267 | RCV001145363; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409891 | 158409891 | | | 3:g.158409891A>T | - | | |
NM_024996.7(GFM1):c.*691T>A | 85476 | GFM1 | Benign | rs8650 | RCV000288969; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409947 | 158409947 | | | NC_000003.11:g.158409947T>A | ClinGen:CA10617863 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*713C>T | 85476 | GFM1 | Benign | rs16829307 | RCV000343936; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409969 | 158409969 | | | NC_000003.11:g.158409969C>T | ClinGen:CA10615648 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*731C>T | 85476 | GFM1 | Benign | rs189114088 | RCV000384430; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158409987 | 158409987 | | | NC_000003.11:g.158409987C>T | ClinGen:CA10617864 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*766G>T | 85476 | GFM1 | Benign | rs114751518 | RCV000290294; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158410022 | 158410022 | | | NC_000003.11:g.158410022G>T | ClinGen:CA10617590 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*803T>C | 85476 | GFM1 | Uncertain significance | rs1726381360 | RCV001147304; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158410059 | 158410059 | | | 3:g.158410059T>C | - | | |
NM_024996.7(GFM1):c.*950C>T | 85476 | GFM1 | Uncertain significance | rs372706819 | RCV000349969; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158410206 | 158410206 | | | NC_000003.11:g.158410206C>T | ClinGen:CA10617593 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*1004T>C | 85476 | GFM1 | Uncertain significance | rs190120734 | RCV000394550; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158410260 | 158410260 | | | NC_000003.11:g.158410260T>C | ClinGen:CA10615162 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_024996.7(GFM1):c.*1033A>G | 85476 | GFM1 | Uncertain significance | rs919876624 | RCV001147305; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 158410289 | 158410289 | | | 3:g.158410289A>G | - | | |
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr) | 84340 | GFM2 | Uncertain significance | rs141789665 | RCV000200345|RCV001824676|RCV002515405; | N | MedGen:CN517202|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681; MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624|MeSH:D030342,MedGen:C0950123 | 5 | 74021509 | 74021509 | | | NC_000005.9:g.74021509A>T | ClinGen:CA324909 | | |
NM_032380.5(GFM2):c.1229T>A (p.Ile410Lys) | 84340 | GFM2 | Uncertain significance | rs863224037 | RCV000200121|RCV001824675; | N | MedGen:CN517202|MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624; MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 5 | 74034234 | 74034234 | | | NC_000005.9:g.74034234A>T | ClinGen:CA324680 | | |
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) | 84340 | GFM2 | Conflicting interpretations of pathogenicity | rs761283105 | RCV000197518|RCV000515487|RCV000767875|RCV001824674; | N | MedGen:CN517202|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:565624|MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681; MONDO:MONDO:0032726,MedGen:C5193075,OMIM:618397, Orphanet:5 | 5 | 74043556 | 74043556 | | | 5:g.74043556C>T | ClinGen:CA321987,OMIM:606544.0004 | C0751651 Mitochondrial diseases; | |
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter) | 65080 | MRPL44 | Pathogenic | rs1574796091 | RCV000791065; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 2 | 224828624 | 224828624 | | | 2:g.224828624T>A | - | | |
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys) | 56945 | MRPS22 | Uncertain significance | rs948280864 | RCV000714744; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 3 | 139069024 | 139069024 | | | NC_000003.11:g.139069024C>T | - | | |
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly) | 79731 | NARS2 | Uncertain significance | rs751383065 | RCV000626109; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 11 | 78147844 | 78147844 | | | 11:g.78147844G>C | ClinGen:CA382178463 | C1836797 609060 Combined oxidative phosphorylation deficiency 1; | |
NM_024678.6(NARS2):c.10del (p.Val4fs) | 79731 | NARS2 | Pathogenic | rs1555047651 | RCV000626110; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 11 | 78285524 | 78285524 | | | NC_000011.9:g.78285524delC | ClinGen:CA658797710 | C1836797 609060 Combined oxidative phosphorylation deficiency 1; | |
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe) | 57176 | VARS2 | Uncertain significance | rs1562465419 | RCV000714819; | N | MONDO:MONDO:0012191,MedGen:C1836797,OMIM:609060, Orphanet:137681 | 6 | 30893893 | 30893893 | | | NC_000006.11:g.30893893C>T | - | | |