ClinVar for Gene (Select 1615) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270889	NM_001349.4(DARS1):c.1303C>T (p.Pro435Ser)	DARS1 (P435S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270888	NM_001349.4(DARS1):c.421A>G (p.Lys141Glu)	DARS1 (K141E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270887	NM_001349.4(DARS1):c.1081G>A (p.Glu361Lys)	DARS1 (E261K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270886	NM_001349.4(DARS1):c.572C>G (p.Thr191Ser)	DARS1 (T191S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080112	NM_001349.4(DARS1):c.968C>G (p.Thr323Ser)	DARS1 (T223S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080111	NM_001349.4(DARS1):c.928A>G (p.Met310Val)	DARS1 (M310V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080110	NM_001349.4(DARS1):c.765A>T (p.Gln255His)	DARS1 (Q155H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080109	NM_001349.4(DARS1):c.691G>A (p.Gly231Arg)	DARS1 (G131R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080108	NM_001349.4(DARS1):c.676+6C>T	DARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3080107	NM_001349.4(DARS1):c.589C>T (p.Arg197Cys)	DARS1 (R97C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080106	NM_001349.4(DARS1):c.511A>G (p.Arg171Gly)	DARS1 (R171G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080105	NM_001349.4(DARS1):c.452G>A (p.Arg151His)	DARS1 (R151H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080104	NM_001349.4(DARS1):c.436A>T (p.Ser146Cys)	DARS1 (S146C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080103	NM_001349.4(DARS1):c.171T>A (p.Asp57Glu)	DARS1 (D57E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080102	NM_001349.4(DARS1):c.1490A>C (p.Lys497Thr)	DARS1 (K397T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080101	NM_001349.4(DARS1):c.1441C>G (p.Leu481Val)	DARS1 (L381V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080100	NM_001349.4(DARS1):c.11C>T (p.Ala4Val)	DARS1, DARS1-AS1 +1 more (A4V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3068269	NM_001349.4(DARS1):c.564+2264G>A	DARS1	Single nucleotide variant (intron variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 3062609	GRCh37/hg19 2q21.3-22.1(chr2:136445987-137460731)x3	CXCR4, DARS1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3046601	NM_001349.4(DARS1):c.505-2dup	DARS1	Duplication (splice acceptor variant)	DARS1-related disorder	GLikely benign
Select item 3043641	NM_001349.4(DARS1):c.1107-10T>C	DARS1	Single nucleotide variant (intron variant)	DARS1-related disorder	GLikely benign
Select item 3034295	NM_001349.4(DARS1):c.1374C>G (p.Ser458=)	DARS1	Single nucleotide variant (synonymous variant)	DARS1-related disorder	GLikely benign
Select item 3016271	NM_001349.4(DARS1):c.1230+8A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002478	NM_001349.4(DARS1):c.1343-7T>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994047	NM_001349.4(DARS1):c.1107-13G>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988443	NM_001349.4(DARS1):c.821C>G (p.Ala274Gly)	DARS1 (A174G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2979616	NM_001349.4(DARS1):c.66+18C>T	DARS1, DARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2978973	NM_001349.4(DARS1):c.87T>C (p.Tyr29=)	DARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959785	NM_001349.4(DARS1):c.125-17G>A	DARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2877951	NM_001349.4(DARS1):c.84A>G (p.Arg28=)	DARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870993	NM_001349.4(DARS1):c.505-4T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869989	NM_001349.4(DARS1):c.504+2T>G	DARS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2815571	NM_001349.4(DARS1):c.603C>T (p.Gly201=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807151	NM_001349.4(DARS1):c.1003G>A (p.Glu335Lys)	DARS1 (E235K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784012	NM_001349.4(DARS1):c.125-18C>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778397	NM_001349.4(DARS1):c.1149+7C>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757597	NM_001349.4(DARS1):c.505-18_505-14del	DARS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2651382	NM_001349.4(DARS1):c.1080C>T (p.Val360=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602014	NM_001349.4(DARS1):c.908T>C (p.Met303Thr)	DARS1 (M203T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599350	NM_001349.4(DARS1):c.337A>G (p.Ile113Val)	DARS1 (I113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537596	NM_001349.4(DARS1):c.536G>T (p.Arg179Ile)	DARS1 (R79I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493909	NM_001349.4(DARS1):c.1078G>A (p.Val360Ile)	DARS1 (V260I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2440706	NM_001349.4(DARS1):c.1288C>T (p.Gln430Ter)	DARS1 (Q330* +1 more)	Single nucleotide variant (nonsense)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 2428329	NM_001349.4(DARS1):c.583G>A (p.Val195Ile)	DARS1 (V195I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2424395	NC_000002.11:g.(?_136545894)_(136875630_?)dup	CXCR4, DARS1 +2 more	Duplication	not provided	GUncertain significance
Select item 2420600	NM_001349.4(DARS1):c.125-6T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413721	NM_001349.4(DARS1):c.900C>T (p.His300=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413706	NM_001349.4(DARS1):c.320+8A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2203149	NM_001349.4(DARS1):c.1480C>T (p.Arg494Cys)	DARS1 (R494C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189101	NM_001349.4(DARS1):c.258T>C (p.Asn86=)	DARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2188150	NM_001349.4(DARS1):c.1069G>A (p.Glu357Lys)	DARS1 (E357K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181585	NM_001349.4(DARS1):c.1342+9_1342+13del	DARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2179121	NM_001349.4(DARS1):c.1285G>A (p.Ala429Thr)	DARS1 (A429T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174772	NM_001349.4(DARS1):c.728A>G (p.Asn243Ser)	DARS1 (N243S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170806	NM_001349.4(DARS1):c.1249G>A (p.Asp417Asn)	DARS1 (D317N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133245	NM_001349.4(DARS1):c.67-17A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132688	NM_001349.4(DARS1):c.949C>T (p.Leu317Phe)	DARS1 (L317F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130328	NM_001349.4(DARS1):c.125-10G>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129364	NM_001349.4(DARS1):c.200A>G (p.His67Arg)	DARS1 (H67R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2124048	NM_001349.4(DARS1):c.1486C>G (p.Pro496Ala)	DARS1 (P396A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122887	NM_001349.4(DARS1):c.1230+13G>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083742	NM_001349.4(DARS1):c.1426G>A (p.Val476Ile)	DARS1 (V476I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078515	NM_001349.4(DARS1):c.565-6T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070735	NM_001349.4(DARS1):c.622G>C (p.Glu208Gln)	DARS1 (E208Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025893	NM_001349.4(DARS1):c.987T>C (p.Asn329=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024046	NM_001349.4(DARS1):c.1150-10_1150-8del	DARS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2023027	NM_001349.4(DARS1):c.520G>C (p.Val174Leu)	DARS1 (V74L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019676	NM_001349.4(DARS1):c.1149+3A>C	DARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2019630	NM_001349.4(DARS1):c.423+15A>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2012548	NM_001349.4(DARS1):c.357T>C (p.Val119=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999669	NM_001349.4(DARS1):c.1342+12A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997597	NM_001349.4(DARS1):c.959+3A>T	DARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990479	NM_001349.4(DARS1):c.1000T>C (p.Cys334Arg)	DARS1 (C334R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981198	NM_001349.4(DARS1):c.858T>G (p.Phe286Leu)	DARS1 (F186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974614	NM_001349.4(DARS1):c.667A>G (p.Ile223Val)	DARS1 (I123V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961838	NM_001349.4(DARS1):c.985A>C (p.Asn329His)	DARS1 (N229H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961544	NM_001349.4(DARS1):c.1191T>C (p.Ala397=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959493	NM_001349.4(DARS1):c.188G>A (p.Arg63His)	DARS1 (R63H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1958188	NM_001349.4(DARS1):c.1380C>T (p.Arg460=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948159	NM_001349.4(DARS1):c.127C>T (p.Arg43Ter)	DARS1 (R43*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1936721	NM_001349.4(DARS1):c.276G>A (p.Ala92=)	DARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1936091	NM_001349.4(DARS1):c.1414+19T>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932686	NM_001349.4(DARS1):c.112C>T (p.Gln38Ter)	DARS1 (Q38*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1928866	NM_001349.4(DARS1):c.1149+15A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928471	NM_001349.4(DARS1):c.832A>T (p.Asn278Tyr)	DARS1 (N278Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928454	NM_001349.4(DARS1):c.1230+1G>A	DARS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1927544	NM_001349.4(DARS1):c.320+12A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926164	NM_001349.4(DARS1):c.508G>A (p.Gly170Arg)	DARS1 (G170R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920486	NM_001349.4(DARS1):c.960-15T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920406	NM_001349.4(DARS1):c.898C>G (p.His300Asp)	DARS1 (H300D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919383	NM_001349.4(DARS1):c.1102C>T (p.Leu368=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912788	NM_001349.4(DARS1):c.433A>G (p.Ile145Val)	DARS1 (I145V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1912555	NM_001349.4(DARS1):c.39G>A (p.Lys13=)	DARS1, DARS1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1909626	NM_001349.4(DARS1):c.159A>C (p.Ile53=)	DARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1908091	NM_001349.4(DARS1):c.1119A>G (p.Glu373=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898800	NM_001349.4(DARS1):c.380T>C (p.Ile127Thr)	DARS1 (I127T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896552	NM_001349.4(DARS1):c.505-15_505-14insC	DARS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1896510	NM_001349.4(DARS1):c.504+17T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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