Related gene-specific medical variations for Gene (Select 126859565) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 178

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013773	NM_006567.5(FARS2):c.442C>T (p.Arg148Trp)	FARS2, LOC126859565 (R148W)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 3004816	NM_006567.5(FARS2):c.333G>C (p.Ser111=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2996339	NM_006567.5(FARS2):c.486C>T (p.Asp162=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2986631	NM_006567.5(FARS2):c.108T>C (p.Pro36=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2912666	NM_006567.5(FARS2):c.555C>T (p.Ser185=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2870316	NM_006567.5(FARS2):c.475C>T (p.His159Tyr)	FARS2, LOC126859565 (H159Y)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2861363	NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)	FARS2, LOC126859565 (S4*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2851733	NM_006567.5(FARS2):c.597C>G (p.Leu199=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2817319	NM_006567.5(FARS2):c.262C>T (p.Leu88=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2802988	NM_006567.5(FARS2):c.513C>T (p.Phe171=)	LOC126859565, FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2797618	NM_006567.5(FARS2):c.528T>C (p.Asp176=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2788828	NM_006567.5(FARS2):c.234G>T (p.Leu78=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2694983	NM_006567.5(FARS2):c.294C>T (p.Tyr98=)	FARS2, LOC126859565	Single nucleotide variant (intron variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2656195	NM_006567.5(FARS2):c.228G>A (p.Arg76=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2629582	NM_006567.5(FARS2):c.509C>T (p.Ala170Val)	FARS2, LOC126859565 (A170V)	Single nucleotide variant (missense variant +1 more)	FARS2-related condition	GUncertain significance
Select item 2574986	NM_006567.5(FARS2):c.187C>A (p.His63Asn)	FARS2, LOC126859565 (H63N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191367	NM_006567.5(FARS2):c.284A>G (p.Glu95Gly)	FARS2, LOC126859565 (E95G)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2190012	NM_006567.5(FARS2):c.261G>C (p.Trp87Cys)	FARS2, LOC126859565 (W87C)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2172251	NM_006567.5(FARS2):c.453G>A (p.Met151Ile)	FARS2, LOC126859565 (M151I)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2104661	NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)	FARS2, LOC126859565 (Q60*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2092976	NM_006567.5(FARS2):c.497dup (p.Leu168fs)	FARS2, LOC126859565 (L168fs)	Duplication (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2091606	NM_006567.5(FARS2):c.388C>T (p.Leu130Phe)	FARS2, LOC126859565 (L130F)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2086226	NM_006567.5(FARS2):c.474A>T (p.Ala158=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2062486	NM_006567.5(FARS2):c.498G>A (p.Ala166=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2059698	NM_006567.5(FARS2):c.151G>C (p.Val51Leu)	LOC126859565, FARS2 (V51L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2055353	NM_006567.5(FARS2):c.126C>T (p.Ala42=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2047981	NM_006567.5(FARS2):c.141A>G (p.Pro47=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2037452	NM_006567.5(FARS2):c.389T>G (p.Leu130Arg)	FARS2, LOC126859565 (L130R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2009343	NM_006567.5(FARS2):c.445A>T (p.Thr149Ser)	FARS2, LOC126859565 (T149S)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2007097	NM_006567.5(FARS2):c.207G>A (p.Lys69=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GLikely benign
Select item 1992777	NM_006567.5(FARS2):c.7G>A (p.Gly3Ser)	FARS2, LOC126859565 (G3S)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1980364	NM_006567.5(FARS2):c.311G>A (p.Arg104His)	FARS2, LOC126859565 (R104H)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1966873	NM_006567.5(FARS2):c.508G>A (p.Ala170Thr)	FARS2, LOC126859565 (A170T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1960127	NM_006567.5(FARS2):c.317G>T (p.Gly106Val)	FARS2, LOC126859565 (G106V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1959953	NM_006567.5(FARS2):c.125C>T (p.Ala42Val)	FARS2, LOC126859565 (A42V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1956521	NM_006567.5(FARS2):c.300G>A (p.Gln100=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1950051	NM_006567.5(FARS2):c.113C>A (p.Ala38Glu)	FARS2, LOC126859565 (A38E)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1943818	NM_006567.5(FARS2):c.204G>C (p.Arg68=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1939622	NM_006567.5(FARS2):c.206A>G (p.Lys69Arg)	FARS2, LOC126859565 (K69R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1930052	NM_006567.5(FARS2):c.327G>A (p.Leu109=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1714103	NM_006567.5(FARS2):c.296A>G (p.Lys99Arg)	FARS2, LOC126859565 (K99R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1676006	NM_006567.5(FARS2):c.396A>G (p.Pro132=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1655409	NM_006567.5(FARS2):c.342C>T (p.Asp114=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1646186	NM_006567.5(FARS2):c.372G>A (p.Gln124=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1622693	NM_006567.5(FARS2):c.231C>T (p.Asn77=)	LOC126859565, FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1616440	NM_006567.5(FARS2):c.312C>A (p.Arg104=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1606582	NM_006567.5(FARS2):c.462G>A (p.Ala154=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	FARS2-related condition +1 more	GBenign/Likely benign
Select item 1583442	NM_006567.5(FARS2):c.612+12G>A	FARS2, LOC126859565	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1568554	NM_006567.5(FARS2):c.201C>G (p.Thr67=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1562624	NM_006567.5(FARS2):c.375C>T (p.Asn125=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1562462	NM_006567.5(FARS2):c.120G>A (p.Glu40=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1550298	NM_006567.5(FARS2):c.492G>A (p.Leu164=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1548952	NM_006567.5(FARS2):c.408C>T (p.Pro136=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1543015	NM_006567.5(FARS2):c.612+19C>A	FARS2, LOC126859565	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1538945	NM_006567.5(FARS2):c.600C>T (p.Phe200=)	LOC126859565, FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1538370	NM_006567.5(FARS2):c.160C>T (p.Leu54=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1525717	NM_006567.5(FARS2):c.441T>A (p.Asn147Lys)	FARS2, LOC126859565 (N147K)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1521458	NM_006567.5(FARS2):c.424G>A (p.Asp142Asn)	FARS2, LOC126859565 (D142N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 1519844	NM_006567.5(FARS2):c.224G>T (p.Gly75Val)	LOC126859565, FARS2 (G75V)	Single nucleotide variant (intron variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1518462	NM_006567.5(FARS2):c.86A>G (p.His29Arg)	FARS2, LOC126859565 (H29R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1517423	NM_006567.5(FARS2):c.589G>A (p.Val197Met)	FARS2, LOC126859565 (V197M)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 1515757	NM_006567.5(FARS2):c.184G>T (p.Asp62Tyr)	FARS2, LOC126859565 (D62Y)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1511826	NM_006567.5(FARS2):c.259T>G (p.Trp87Gly)	FARS2, LOC126859565 (W87G)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1500677	NM_006567.5(FARS2):c.297G>T (p.Lys99Asn)	FARS2, LOC126859565 (K99N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1498833	NM_006567.5(FARS2):c.91G>A (p.Ala31Thr)	FARS2, LOC126859565 (A31T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1491976	NM_006567.5(FARS2):c.425A>G (p.Asp142Gly)	FARS2, LOC126859565 (D142G)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 1485600	NM_006567.5(FARS2):c.407C>T (p.Pro136Leu)	FARS2, LOC126859565 (P136L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1476092	NM_006567.5(FARS2):c.146G>A (p.Ser49Asn)	FARS2, LOC126859565 (S49N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1461861	NM_006567.5(FARS2):c.409A>G (p.Ser137Gly)	FARS2, LOC126859565 (S137G)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GUncertain significance
Select item 1449177	NM_006567.5(FARS2):c.515T>C (p.Leu172Pro)	FARS2, LOC126859565 (L172P)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 77 +1 more	GUncertain significance
Select item 1435832	NM_006567.5(FARS2):c.382A>G (p.Ser128Gly)	FARS2, LOC126859565 (S128G)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1433148	NM_006567.5(FARS2):c.592C>T (p.Arg198Trp)	FARS2, LOC126859565 (R198W)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1425256	NM_006567.5(FARS2):c.539G>A (p.Arg180His)	FARS2, LOC126859565 (R180H)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1413774	NM_006567.5(FARS2):c.443G>A (p.Arg148Gln)	FARS2, LOC126859565 (R148Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1397199	NM_006567.5(FARS2):c.562T>C (p.Tyr188His)	FARS2, LOC126859565 (Y188H)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1396251	NM_006567.5(FARS2):c.131A>G (p.Gln44Arg)	FARS2, LOC126859565 (Q44R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1383168	NM_006567.5(FARS2):c.308G>C (p.Gly103Ala)	FARS2, LOC126859565 (G103A)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1375428	NM_006567.5(FARS2):c.425del (p.Asp142fs)	FARS2, LOC126859565 (D142fs)	Deletion (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 1375178	NM_006567.5(FARS2):c.28G>A (p.Ala10Thr)	FARS2, LOC126859565 (A10T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1361257	NM_006567.5(FARS2):c.94T>A (p.Trp32Arg)	FARS2, LOC126859565 (W32R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1353934	NM_006567.5(FARS2):c.20G>A (p.Arg7Lys)	FARS2, LOC126859565 (R7K)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1353363	NM_006567.5(FARS2):c.184G>A (p.Asp62Asn)	FARS2, LOC126859565 (D62N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1241928	NM_006567.5(FARS2):c.612+245C>T	FARS2, LOC126859565	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213611	NM_006567.5(FARS2):c.612+48T>G	FARS2, LOC126859565	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193916	NM_006567.5(FARS2):c.-21-272C>T	FARS2, LOC126859565	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1158515	NM_006567.5(FARS2):c.264G>A (p.Leu88=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1151396	NM_006567.5(FARS2):c.318G>A (p.Gly106=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1118624	NM_006567.5(FARS2):c.84G>A (p.Gln28=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1114589	NM_006567.5(FARS2):c.378T>C (p.Phe126=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1112259	NM_006567.5(FARS2):c.138T>C (p.Ala46=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1109917	NM_006567.5(FARS2):c.213C>T (p.Leu71=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GLikely benign
Select item 1097989	NM_006567.5(FARS2):c.444G>T (p.Arg148=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1094367	NM_006567.5(FARS2):c.549C>T (p.Ile183=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1086603	NM_006567.5(FARS2):c.336C>T (p.Val112=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1086083	NM_006567.5(FARS2):c.72C>T (p.Ser24=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1084517	NM_006567.5(FARS2):c.450C>T (p.His150=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1081130	NM_006567.5(FARS2):c.150G>A (p.Val50=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1080574	NM_006567.5(FARS2):c.495C>T (p.His165=)	FARS2, LOC126859565	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1069067	NM_006567.5(FARS2):c.298C>T (p.Gln100Ter)	LOC126859565, FARS2 (Q100*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GPathogenic
Select item 1067279	NM_006567.5(FARS2):c.3G>T (p.Met1Ile)	FARS2, LOC126859565 (M1I)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 14	GPathogenic

<< First< Prev

Page of 2