ClinVar for Gene (Select 5917) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 373

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312826	NM_002887.4(RARS1):c.634C>G (p.Leu212Val)	RARS1 (L212V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312824	NM_002887.4(RARS1):c.796A>G (p.Ile266Val)	RARS1 (I266V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312823	NM_002887.4(RARS1):c.689A>G (p.Tyr230Cys)	RARS1 (Y230C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312822	NM_002887.4(RARS1):c.1381C>T (p.Arg461Cys)	RARS1 (R461C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151684	NM_002887.4(RARS1):c.811G>A (p.Val271Ile)	RARS1 (V271I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151683	NM_002887.4(RARS1):c.784G>A (p.Val262Ile)	RARS1 (V262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151682	NM_002887.4(RARS1):c.782C>A (p.Thr261Lys)	RARS1 (T261K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151681	NM_002887.4(RARS1):c.753C>G (p.His251Gln)	RARS1 (H251Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151680	NM_002887.4(RARS1):c.752A>G (p.His251Arg)	RARS1 (H251R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151679	NM_002887.4(RARS1):c.657G>T (p.Glu219Asp)	RARS1 (E219D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151678	NM_002887.4(RARS1):c.608T>C (p.Ile203Thr)	RARS1 (I203T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151677	NM_002887.4(RARS1):c.568G>C (p.Glu190Gln)	RARS1 (E190Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151676	NM_002887.4(RARS1):c.46-4A>G	RARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3151675	NM_002887.4(RARS1):c.45+6G>A	RARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3151674	NM_002887.4(RARS1):c.43C>G (p.Gln15Glu)	RARS1 (Q15E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151673	NM_002887.4(RARS1):c.369+3G>A	RARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3151672	NM_002887.4(RARS1):c.233GCC[1] (p.Arg79del)	RARS1 (R79del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3151671	NM_002887.4(RARS1):c.235C>T (p.Arg79Cys)	RARS1 (R79C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151670	NM_002887.4(RARS1):c.1967C>T (p.Pro656Leu)	RARS1 (P656L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151669	NM_002887.4(RARS1):c.1729T>C (p.Cys577Arg)	RARS1 (C577R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151668	NM_002887.4(RARS1):c.1453-5C>T	RARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3151667	NM_002887.4(RARS1):c.1364G>A (p.Arg455His)	RARS1 (R455H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151666	NM_002887.4(RARS1):c.1291C>A (p.Pro431Thr)	RARS1 (P431T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151665	NM_002887.4(RARS1):c.101G>T (p.Cys34Phe)	RARS1 (C34F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062853	GRCh37/hg19 5q34-35.1(chr5:167580162-168867423)x1	MIR103A1, PANK3 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 3052595	NM_002887.4(RARS1):c.1221T>C (p.Val407=)	RARS1	Single nucleotide variant (synonymous variant)	RARS1-related disorder	GLikely benign
Select item 2984365	NM_002887.4(RARS1):c.580-20T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903704	NM_002887.4(RARS1):c.579+8T>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898860	NM_002887.4(RARS1):c.950A>C (p.Gln317Pro)	RARS1 (Q317P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2874662	NM_002887.4(RARS1):c.1058-5C>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873839	NM_002887.4(RARS1):c.12G>C (p.Leu4=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863314	NM_002887.4(RARS1):c.1873+23_1873+33dup	RARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2788736	NM_002887.4(RARS1):c.181-8T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761362	NM_002887.4(RARS1):c.580-4C>G	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744683	NM_002887.4(RARS1):c.1870_1873+4dup	RARS1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2730168	NM_002887.4(RARS1):c.29C>T (p.Ala10Val)	RARS1 (A10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711644	NM_002887.4(RARS1):c.1873+16_1873+33dup	RARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2685182	GRCh37/hg19 5q34(chr5:163825772-168355129)x1	MIR103A1, PANK3 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684435	GRCh37/hg19 5q34(chr5:167244760-167992937)x3	MIR103A1, PANK3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2683827	NM_002887.4(RARS1):c.1716G>A (p.Trp572Ter)	RARS1 (W572*)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 9	GLikely pathogenic
Select item 2656040	NM_002887.4(RARS1):c.1873+4A>T	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656039	NM_002887.4(RARS1):c.1149C>A (p.Thr383=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632633	NM_002887.4(RARS1):c.1795del (p.Asp599fs)	RARS1 (D599fs)	Deletion (frameshift variant)	RARS1-related disorder	GLikely pathogenic
Select item 2606307	NM_002887.4(RARS1):c.1171G>T (p.Ala391Ser)	RARS1 (A391S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582205	NM_002887.4(RARS1):c.361A>G (p.Ile121Val)	RARS1 (I121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576788	NM_002887.4(RARS1):c.227TTA[1] (p.Ile77del)	RARS1 (I77del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2550176	NM_002887.4(RARS1):c.947G>A (p.Arg316His)	RARS1 (R316H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545617	NM_002887.4(RARS1):c.748G>A (p.Ala250Thr)	RARS1 (A250T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500454	NM_002887.4(RARS1):c.653G>C (p.Gly218Ala)	RARS1 (G218A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500452	NM_002887.4(RARS1):c.-5G>A	RARS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2480827	NM_002887.4(RARS1):c.41A>G (p.Gln14Arg)	RARS1 (Q14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461148	NM_002887.4(RARS1):c.484A>G (p.Ile162Val)	RARS1 (I162V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446291	NM_002887.4(RARS1):c.1820C>T (p.Ala607Val)	RARS1 (A607V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445983	NM_002887.4(RARS1):c.1662_1663delinsTT (p.Met554_Leu555delinsIlePhe)	RARS1	Indel (missense variant)	Hypomyelinating leukodystrophy 9	GUncertain significance
Select item 2443369	NM_002887.4(RARS1):c.1625+191_1625+192del	RARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2441849	NM_002887.4(RARS1):c.180+5G>A	RARS1	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 9	GUncertain significance
Select item 2435371	NM_002887.4(RARS1):c.1452+12C>A	RARS1	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 9	GLikely benign
Select item 2435370	NM_002887.4(RARS1):c.847G>A (p.Glu283Lys)	RARS1 (E283K)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 9	GUncertain significance
Select item 2435369	NM_002887.4(RARS1):c.1535G>T (p.Arg512Leu)	RARS1 (R512L)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 9	GUncertain significance
Select item 2425244	NC_000005.9:g.(?_167849013)_(169661202_?)del	C5orf58, DOCK2 +8 more	Deletion	DOCK2 deficiency	GPathogenic
Select item 2420920	NM_002887.4(RARS1):c.1208T>C (p.Met403Thr)	RARS1 (M403T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416202	NM_002887.4(RARS1):c.1532A>G (p.Asn511Ser)	RARS1 (N511S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186269	NM_002887.4(RARS1):c.365C>T (p.Ser122Phe)	RARS1 (S122F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185195	NM_002887.4(RARS1):c.7G>C (p.Val3Leu)	RARS1 (V3L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2185187	NM_002887.4(RARS1):c.1266T>C (p.Ala422=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179135	NM_002887.4(RARS1):c.1738C>T (p.Arg580Trp)	RARS1 (R580W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174966	NM_002887.4(RARS1):c.1557C>T (p.Ser519=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174386	NM_002887.4(RARS1):c.1911A>G (p.Leu637=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169797	NM_002887.4(RARS1):c.1873+21_1873+33del	RARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2168729	NM_002887.4(RARS1):c.675T>C (p.Phe225=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166806	NM_002887.4(RARS1):c.1873+15_1873+33dup	RARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2143037	NM_002887.4(RARS1):c.702-10T>A	RARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2133792	NM_002887.4(RARS1):c.1429T>C (p.Leu477=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131013	NM_002887.4(RARS1):c.538G>A (p.Val180Met)	RARS1 (V180M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129418	NM_002887.4(RARS1):c.257A>G (p.His86Arg)	RARS1 (H86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112832	NM_002887.4(RARS1):c.1292C>G (p.Pro431Arg)	RARS1 (P431R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106756	NM_002887.4(RARS1):c.1649T>C (p.Ile550Thr)	RARS1 (I550T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104317	NM_002887.4(RARS1):c.579+12C>T	RARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101734	NM_002887.4(RARS1):c.535C>G (p.Leu179Val)	RARS1 (L179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098833	NM_002887.4(RARS1):c.620T>C (p.Met207Thr)	RARS1 (M207T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091888	NM_002887.4(RARS1):c.467T>A (p.Ile156Asn)	RARS1 (I156N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086725	NM_002887.4(RARS1):c.1690A>T (p.Ile564Phe)	RARS1 (I564F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082104	NM_002887.4(RARS1):c.531TCT[1] (p.Leu179del)	RARS1 (L179del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2081830	NM_002887.4(RARS1):c.400C>T (p.Pro134Ser)	RARS1 (P134S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2075219	NM_002887.4(RARS1):c.1881A>G (p.Ile627Met)	RARS1 (I627M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2072261	NM_002887.4(RARS1):c.1873+20_1873+33dup	RARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2071525	NM_002887.4(RARS1):c.1473G>T (p.Leu491Phe)	RARS1 (L491F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070368	NM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTT	RARS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2066881	NM_002887.4(RARS1):c.882A>G (p.Val294=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066002	NM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTT	RARS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2063766	NM_002887.4(RARS1):c.1873+19_1873+33dup	RARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2061234	NM_002887.4(RARS1):c.1873+22_1873+33del	RARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2059386	NM_002887.4(RARS1):c.1873+18_1873+33dup	RARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2058874	NM_002887.4(RARS1):c.790C>T (p.Pro264Ser)	RARS1 (P264S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058532	NM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RARS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2053275	NM_002887.4(RARS1):c.1168G>A (p.Ala390Thr)	RARS1 (A390T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045091	NM_002887.4(RARS1):c.1873+32_1873+33del	RARS1	Deletion (intron variant)	not provided	GBenign
Select item 2044235	NM_002887.4(RARS1):c.231T>C (p.Ile77=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044123	NM_002887.4(RARS1):c.777T>C (p.Tyr259=)	RARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 4