ClinVar for MedGen (Select 1663069) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 444

<< First< Prev

Page of 5

	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 2964974	NM_006567.5(FARS2):c.613-18T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2919338	NM_006567.5(FARS2):c.846T>C (p.His282=)	FARS2	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 2911891	NM_006567.5(FARS2):c.829A>G (p.Met277Val)	FARS2 (M45V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GBenign
Select item 2898667	NM_006567.5(FARS2):c.651C>G (p.Leu217=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2891865	NM_006567.5(FARS2):c.726T>C (p.Asp242=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2883507	NM_006567.5(FARS2):c.772+7G>A	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2874939	NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)	FARS2 (G265R +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 2871305	NM_006567.5(FARS2):c.1066-5G>T	FARS2	Single nucleotide variant (intron variant)	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 2853810	NM_006567.5(FARS2):c.1267C>A (p.Arg423=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
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 2841126	NM_006567.5(FARS2):c.904+11A>T	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2832641	NM_006567.5(FARS2):c.613-15C>A	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2818571	NM_006567.5(FARS2):c.768A>G (p.Gly256=)	FARS2	Single nucleotide variant (synonymous variant)	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 2805964	NM_006567.5(FARS2):c.804C>T (p.Phe268=)	FARS2	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 2796234	NM_006567.5(FARS2):c.613-9G>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2789695	NM_006567.5(FARS2):c.613-13T>C	FARS2	Single nucleotide variant (intron variant)	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 2771426	NM_006567.5(FARS2):c.1218-73_1289delinsC	FARS2	Indel (splice acceptor variant)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2749541	NM_006567.5(FARS2):c.1126T>C (p.Tyr376His)	FARS2 (Y376H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2746945	NM_006567.5(FARS2):c.613-10T>G	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2741020	NM_006567.5(FARS2):c.1154T>C (p.Val385Ala)	FARS2 (V385A +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2740894	NM_006567.5(FARS2):c.772+11A>T	FARS2	Single nucleotide variant (intron variant)	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 2674635	NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)	FARS2 (R198L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2674634	NM_006567.5:c.(?_-4)_(612+185_613-1)del	FARS2	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2582506	NM_006567.5(FARS2):c.1345G>C (p.Gly449Arg)	FARS2 (G217R +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2500183	NC_000006.11:g.(?_5172693)_(5459957_?)del	FARS2, LYRM4	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2425615	NC_000006.11:g.(?_5771504)_(6182394_?)dup	FARS2, NRN1 +1 more	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2425614	NC_000006.11:g.(?_5216831)_(5431425_?)del	FARS2, LYRM4	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2425613	NC_000006.11:g.(?_5368804)_(5369435_?)del	FARS2	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2425612	NC_000006.11:g.(?_5109657)_(6320826_?)del	F13A1, FARS2 +2 more	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2425611	NC_000006.11:g.(?_5368804)_(5613573_?)dup	FARS2	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2425610	NC_000006.11:g.(?_5368804)_(5404954_?)dup	FARS2	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2425609	NC_000006.11:g.(?_5545393)_(5545593_?)dup	FARS2	Duplication	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 2425608	NC_000006.11:g.(?_5404755)_(5404954_?)dup	FARS2	Duplication	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 2425607	NC_000006.11:g.(?_5404755)_(5545593_?)del	FARS2	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2425606	NC_000006.11:g.(?_5404755)_(5431425_?)del	FARS2	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2425605	NC_000006.11:g.(?_5368804)_(5404954_?)del	FARS2	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2202486	NM_006567.5(FARS2):c.1168_1173del (p.Gly390_Asp391del)	FARS2	Deletion (inframe_deletion)	Combined oxidative phosphorylation defect type 14	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 2175037	NM_006567.5(FARS2):c.772+4A>G	FARS2	Single nucleotide variant (intron variant)	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 2169416	NM_006567.5(FARS2):c.1262T>C (p.Met421Thr)	FARS2 (M189T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2163232	NM_006567.5(FARS2):c.773-7T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2141364	NM_006567.5(FARS2):c.772+20T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2134155	NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)	FARS2 (W370* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2130378	NM_006567.5(FARS2):c.1093A>C (p.Asn365His)	FARS2 (N133H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2127422	NM_006567.5(FARS2):c.999G>T (p.Trp333Cys)	FARS2 (W289C +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2123634	NM_006567.5(FARS2):c.904+16A>G	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2121091	NM_006567.5(FARS2):c.1066-17T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
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 2079397	NM_006567.5(FARS2):c.613-2A>G	FARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 2073848	NM_006567.5(FARS2):c.738G>A (p.Thr246=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2068331	NM_006567.5(FARS2):c.1244G>A (p.Arg415His)	FARS2 (R183H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
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 2044797	NM_006567.5(FARS2):c.750C>T (p.Leu250=)	FARS2	Single nucleotide variant (synonymous variant)	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 2026759	NM_006567.5(FARS2):c.773-9A>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2016453	NM_006567.5(FARS2):c.1122G>T (p.Glu374Asp)	FARS2 (E330D +2 more)	Single nucleotide variant (missense variant)	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 2002325	NM_006567.5(FARS2):c.1066-15C>T	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1993204	NM_006567.5(FARS2):c.619G>T (p.Ala207Ser)	FARS2 (A207S)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
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 1971412	NM_006567.5(FARS2):c.1092C>T (p.Ile364=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1971270	NM_006567.5(FARS2):c.835A>G (p.Ile279Val)	FARS2 (I47V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GBenign
Select item 1968875	NM_006567.5(FARS2):c.1271C>G (p.Thr424Ser)	FARS2 (T380S +2 more)	Single nucleotide variant (missense variant)	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 1963037	NM_006567.5(FARS2):c.922A>G (p.Ile308Val)	FARS2 (I76V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1962090	NM_006567.5(FARS2):c.773-17C>T	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
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 1952298	NM_006567.5(FARS2):c.631G>A (p.Asp211Asn)	FARS2 (D211N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1951977	NM_006567.5(FARS2):c.902C>T (p.Ser301Leu)	FARS2 (S301L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GUncertain significance
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 1946683	NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)	FARS2 (W78* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 1945538	NM_006567.5(FARS2):c.1066-12T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
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 1940956	NM_006567.5(FARS2):c.1218G>A (p.Lys406=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
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 1932568	NM_006567.5(FARS2):c.876G>A (p.Gly292=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign

<< First< Prev

Page of 5