ClinVar for Gene (Select 51520) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362703	NM_020117.11(LARS1):c.536A>T (p.His179Leu)	LARS1 (H125L +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 3362591	NM_020117.11(LARS1):c.3325+1del	LARS1	Deletion (splice donor variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 3361401	NM_020117.11(LARS1):c.593A>C (p.Lys198Thr)	LARS1 (K144T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342961	NM_020117.11(LARS1):c.3218A>G (p.Asn1073Ser)	LARS1 (N1019S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341323	NM_020117.11(LARS1):c.3377G>A (p.Arg1126Gln)	LARS1 (R1072Q +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 3337247	NM_020117.11(LARS1):c.2548C>T (p.Arg850Trp)	LARS1 (R796W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3290165	NM_020117.11(LARS1):c.163A>G (p.Met55Val)	LARS1 (M55V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290164	NM_020117.11(LARS1):c.3314G>C (p.Arg1105Pro)	LARS1 (R1078P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290162	NM_020117.11(LARS1):c.567T>G (p.Ile189Met)	LARS1 (I135M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290161	NM_020117.11(LARS1):c.3443A>G (p.Asn1148Ser)	LARS1 (N1094S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290160	NM_020117.11(LARS1):c.1584C>A (p.Asp528Glu)	LARS1 (D474E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290159	NM_020117.11(LARS1):c.1198A>G (p.Ile400Val)	LARS1 (I354V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290158	NM_020117.11(LARS1):c.322A>G (p.Ile108Val)	LARS1 (I108V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3233931	NM_020117.11(LARS1):c.2445G>T (p.Met815Ile)	LARS1 (M761I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117916	NM_020117.11(LARS1):c.965A>G (p.Asp322Gly)	LARS1 (D295G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117915	NM_020117.11(LARS1):c.47T>C (p.Ile16Thr)	LARS1, LOC129389388 (I16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117914	NM_020117.11(LARS1):c.478A>G (p.Ile160Val)	LARS1 (I114V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117913	NM_020117.11(LARS1):c.476G>A (p.Gly159Asp)	LARS1 (G105D +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117912	NM_020117.11(LARS1):c.463A>G (p.Lys155Glu)	LARS1 (K101E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117911	NM_020117.11(LARS1):c.3425C>T (p.Ser1142Phe)	LARS1 (S1115F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117910	NM_020117.11(LARS1):c.3380G>A (p.Arg1127Gln)	LARS1 (R1081Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117909	NM_020117.11(LARS1):c.3311A>G (p.Asn1104Ser)	LARS1 (N1050S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117908	NM_020117.11(LARS1):c.329T>G (p.Leu110Arg)	LARS1 (L83R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117907	NM_020117.11(LARS1):c.3295C>T (p.Arg1099Cys)	LARS1 (R1072C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117906	NM_020117.11(LARS1):c.31G>A (p.Asp11Asn)	LARS1, LOC129389388 (D11N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3117905	NM_020117.11(LARS1):c.3007A>T (p.Met1003Leu)	LARS1 (M1003L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117904	NM_020117.11(LARS1):c.298T>A (p.Cys100Ser)	LARS1 (C46S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117903	NM_020117.11(LARS1):c.2966T>C (p.Val989Ala)	LARS1 (V962A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117902	NM_020117.11(LARS1):c.2906A>G (p.Asn969Ser)	LARS1 (N942S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117901	NM_020117.11(LARS1):c.289A>G (p.Ile97Val)	LARS1 (I43V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117900	NM_020117.11(LARS1):c.2880+5T>G	LARS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3117899	NM_020117.11(LARS1):c.2843A>G (p.Gln948Arg)	LARS1 (Q902R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117898	NM_020117.11(LARS1):c.2776G>A (p.Asp926Asn)	LARS1 (D872N +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3117897	NM_020117.11(LARS1):c.2747A>G (p.Tyr916Cys)	LARS1 (Y889C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3117896	NM_020117.11(LARS1):c.2648C>A (p.Ala883Asp)	LARS1 (A829D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117895	NM_020117.11(LARS1):c.2549G>A (p.Arg850Gln)	LARS1 (R850Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117894	NM_020117.11(LARS1):c.2500A>T (p.Lys834Ter)	LARS1 (K834* +3 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 3117893	NM_020117.11(LARS1):c.2441A>C (p.Lys814Thr)	LARS1 (K768T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117892	NM_020117.11(LARS1):c.2297G>A (p.Arg766His)	LARS1 (R766H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117891	NM_020117.11(LARS1):c.2105C>T (p.Thr702Ile)	LARS1 (T648I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117890	NM_020117.11(LARS1):c.2041C>A (p.His681Asn)	LARS1 (H654N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117889	NM_020117.11(LARS1):c.191C>T (p.Thr64Met)	LARS1 (T10M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3117888	NM_020117.11(LARS1):c.1840A>G (p.Asn614Asp)	LARS1 (N587D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117887	NM_020117.11(LARS1):c.1730A>C (p.Tyr577Ser)	LARS1 (Y523S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117886	NM_020117.11(LARS1):c.1517T>C (p.Ile506Thr)	LARS1 (I479T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117885	NM_020117.11(LARS1):c.1496T>C (p.Ile499Thr)	LARS1 (I499T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117884	NM_020117.11(LARS1):c.1352T>C (p.Ile451Thr)	LARS1 (I397T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117883	NM_020117.11(LARS1):c.1264A>G (p.Met422Val)	LARS1 (M422V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117882	NM_020117.11(LARS1):c.125+3G>T	LARS1, LOC129389388	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3117881	NM_020117.11(LARS1):c.1232C>T (p.Ala411Val)	LARS1 (A411V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117880	NM_020117.11(LARS1):c.1183G>C (p.Asp395His)	LARS1 (D341H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3057262	NM_020117.11(LARS1):c.2700G>A (p.Gln900=)	LARS1	Single nucleotide variant (synonymous variant)	LARS1-related disorder	GLikely benign
Select item 3050594	NM_020117.11(LARS1):c.840-6T>C	LARS1	Single nucleotide variant (intron variant)	LARS1-related disorder	GLikely benign
Select item 3050375	NM_020117.11(LARS1):c.594+9A>G	LARS1	Single nucleotide variant (intron variant)	LARS1-related disorder	GLikely benign
Select item 3045817	NM_020117.11(LARS1):c.1608A>G (p.Glu536=)	LARS1	Single nucleotide variant (synonymous variant)	LARS1-related disorder	GLikely benign
Select item 3008767	NM_020117.11(LARS1):c.2316G>A (p.Glu772=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995847	NM_020117.11(LARS1):c.2488-6T>G	LARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990959	NM_020117.11(LARS1):c.3204C>T (p.Ser1068=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979200	NM_020117.11(LARS1):c.840-15_840-14insC	LARS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2969698	NM_020117.11(LARS1):c.565A>G (p.Ile189Val)	LARS1 (I135V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964093	NM_020117.11(LARS1):c.2881-16T>G	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961966	NM_020117.11(LARS1):c.2487+14dup	LARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2901971	NM_020117.11(LARS1):c.2512T>C (p.Leu838=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879428	NM_020117.11(LARS1):c.1999C>A (p.Pro667Thr)	LARS1 (P613T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845413	NM_020117.11(LARS1):c.2554A>G (p.Ile852Val)	LARS1 (I806V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841872	NM_020117.11(LARS1):c.2322G>C (p.Val774=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824624	NM_020117.11(LARS1):c.1738+1G>A	LARS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2823872	NM_020117.11(LARS1):c.1503+18C>T	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808120	NM_020117.11(LARS1):c.1770G>C (p.Leu590=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803844	NM_020117.11(LARS1):c.11_12del (p.Arg4fs)	LARS1, LOC129389388 (R4fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2802770	NM_020117.11(LARS1):c.2386G>A (p.Val796Ile)	LARS1 (V796I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796193	NM_020117.11(LARS1):c.3012G>T (p.Gly1004=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788006	NM_020117.11(LARS1):c.295-7G>T	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762110	NM_020117.11(LARS1):c.282A>T (p.Gly94=)	LARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2759964	NM_020117.11(LARS1):c.1154-11del	LARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2712622	NM_020117.11(LARS1):c.295-7G>A	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692342	NM_020117.11(LARS1):c.1094C>G (p.Pro365Arg)	LARS1 (P311R +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 2690634	NM_020117.11(LARS1):c.2781del (p.Lys927fs)	LARS1 (K873fs +3 more)	Deletion (frameshift variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 2682517	NM_020117.11(LARS1):c.3240C>G (p.His1080Gln)	LARS1 (H1026Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2663736	NM_020117.11(LARS1):c.748G>A (p.Asp250Asn)	LARS1 (D196N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637075	NM_020117.11(LARS1):c.2219G>A (p.Arg740His)	LARS1 (R686H +3 more)	Single nucleotide variant (missense variant)	LARS1-related disorder	GUncertain significance
Select item 2628957	NM_020117.11(LARS1):c.6+4A>C	LARS1	Single nucleotide variant (intron variant)	LARS1-related disorder	GUncertain significance
Select item 2627288	NM_020117.11(LARS1):c.2130CCT[1] (p.Leu712del)	LARS1 (L658del +3 more)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 2623239	NM_020117.11(LARS1):c.3079C>G (p.Leu1027Val)	LARS1 (L1027V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581769	NM_020117.11(LARS1):c.1726A>G (p.Thr576Ala)	LARS1 (T522A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578257	NM_020117.11(LARS1):c.1922A>C (p.Lys641Thr)	LARS1 (K587T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578255	NM_020117.11(LARS1):c.3061A>C (p.Met1021Leu)	LARS1 (M1021L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573955	NM_020117.11(LARS1):c.745A>G (p.Met249Val)	LARS1 (M195V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552629	NM_020117.11(LARS1):c.103T>A (p.Ser35Thr)	LARS1, LOC129389388 (S35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552042	NM_020117.11(LARS1):c.2204C>T (p.Ser735Leu)	LARS1 (S708L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545411	NM_020117.11(LARS1):c.3288A>G (p.Ile1096Met)	LARS1 (I1096M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537379	NM_020117.11(LARS1):c.2611T>G (p.Trp871Gly)	LARS1 (W825G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533694	NM_020117.11(LARS1):c.1237C>T (p.Arg413Ter)	LARS1 (R367* +3 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 2518909	NM_020117.11(LARS1):c.173G>T (p.Arg58Leu)	LARS1 (R58L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506038	NM_020117.11(LARS1):c.1283C>T (p.Pro428Leu)	LARS1 (P374L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2505884	NM_020117.11(LARS1):c.2391dup (p.Ala798fs)	LARS1 (A744fs +3 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2495851	NM_020117.11(LARS1):c.3017G>A (p.Arg1006His)	LARS1 (R952H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477933	NM_020117.11(LARS1):c.1927G>A (p.Ala643Thr)	LARS1 (A643T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469044	NM_020117.11(LARS1):c.1370G>A (p.Arg457Gln)	LARS1 (R403Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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