ClinVar for Gene (Select 79587) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3137465	NM_024537.4(CARS2):c.227A>G (p.Tyr76Cys)	CARS2 (Y76C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3023501	NM_024537.4(CARS2):c.466-19C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 3016670	NM_024537.4(CARS2):c.258G>C (p.Ala86=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 3015929	NM_024537.4(CARS2):c.987+19_987+23del	CARS2	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 3001423	NM_024537.4(CARS2):c.627C>T (p.Gly209=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2998137	NM_024537.4(CARS2):c.1417-20C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2997725	NM_024537.4(CARS2):c.1055-11T>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2975630	NM_024537.4(CARS2):c.656-11G>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2974788	NM_024537.4(CARS2):c.1104G>A (p.Leu368=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2973163	NM_024537.4(CARS2):c.1503G>T (p.Ala501=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2973113	NM_024537.4(CARS2):c.255T>C (p.His85=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2972702	NM_024537.4(CARS2):c.1426G>A (p.Gly476Arg)	CARS2 (G214R +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2961655	NM_024537.4(CARS2):c.466-14C>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2958113	NM_024537.4(CARS2):c.1212G>A (p.Arg404=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2955281	NM_024537.4(CARS2):c.276-12T>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2919494	NM_024537.4(CARS2):c.1368C>T (p.Tyr456=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2918538	NM_024537.4(CARS2):c.1623+9C>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2914437	NM_024537.4(CARS2):c.441C>T (p.Phe147=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2913519	NM_024537.4(CARS2):c.1054+13C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2910665	NM_024537.4(CARS2):c.805C>T (p.Leu269=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2907426	NM_024537.4(CARS2):c.1623+17G>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2905987	NM_024537.4(CARS2):c.1194-16dup	CARS2	Duplication (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2898456	NM_024537.4(CARS2):c.60C>G (p.Gly20=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2885521	NM_024537.4(CARS2):c.1527G>A (p.Gly509=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2868839	NM_024537.4(CARS2):c.1215C>T (p.Ala405=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2868690	NM_024537.4(CARS2):c.466-17T>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2859945	NM_024537.4(CARS2):c.1599G>A (p.Leu533=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2853830	NM_024537.4(CARS2):c.606C>T (p.Asp202=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2848187	NM_024537.4(CARS2):c.885G>A (p.Gln295=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2844801	NM_024537.4(CARS2):c.1194-20G>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2818044	NM_024537.4(CARS2):c.1055-18C>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2816514	NM_024537.4(CARS2):c.1417-14C>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2815276	NM_024537.4(CARS2):c.819A>C (p.Ser273=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2814938	NM_024537.4(CARS2):c.108G>A (p.Gly36=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2810106	NM_024537.4(CARS2):c.1055-17C>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2804401	NM_024537.4(CARS2):c.783T>C (p.Ala261=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2799649	NM_024537.4(CARS2):c.465+8G>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2796315	NM_024537.4(CARS2):c.843A>C (p.Pro281=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2795765	NM_024537.4(CARS2):c.656-18A>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2791701	NM_024537.4(CARS2):c.279A>G (p.Ser93=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2784366	NM_024537.4(CARS2):c.656-9C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2780096	NM_024537.4(CARS2):c.193C>T (p.Leu65=)	CARS2	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2763863	NM_024537.4(CARS2):c.66G>C (p.Gly22=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2761733	NM_024537.4(CARS2):c.30G>C (p.Leu10=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2760207	NM_024537.4(CARS2):c.1377G>A (p.Gln459=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2760202	NM_024537.4(CARS2):c.1623+19del	CARS2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2759546	NM_024537.4(CARS2):c.55C>T (p.Leu19=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2754264	NM_024537.4(CARS2):c.1059C>A (p.Ile353=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2751067	NM_024537.4(CARS2):c.919+14T>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2750751	NM_024537.4(CARS2):c.1624-7T>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2748823	NM_024537.4(CARS2):c.225-5del	CARS2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2745450	NM_024537.4(CARS2):c.1312C>T (p.Leu438=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2744544	NM_024537.4(CARS2):c.786-16G>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2723394	NM_024537.4(CARS2):c.1193+20C>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2716119	NM_024537.4(CARS2):c.1286A>G (p.His429Arg)	CARS2 (H167R +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2695685	NM_024537.4(CARS2):c.224+7C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2695155	NM_024537.4(CARS2):c.919+8A>C	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2688719	NM_024537.4(CARS2):c.204del (p.His69fs)	CARS2 (H69fs)	Deletion (frameshift variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2683242	NM_024537.4(CARS2):c.465+5A>C	CARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2580695	NM_024537.4(CARS2):c.938G>A (p.Gly313Asp)	CARS2 (G313D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2559061	NM_024537.4(CARS2):c.848A>G (p.His283Arg)	CARS2 (H21R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558580	NM_024537.4(CARS2):c.553G>A (p.Ala185Thr)	CARS2 (A185T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2540109	NM_024537.4(CARS2):c.1576T>C (p.Cys526Arg)	CARS2 (C264R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505976	NM_024537.4(CARS2):c.1117T>A (p.Phe373Ile)	CARS2 (F111I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504524	NM_024537.4(CARS2):c.1552G>C (p.Glu518Gln)	CARS2 (E256Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2491912	NM_024537.4(CARS2):c.191C>A (p.Pro64His)	CARS2 (P64H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2439756	NM_024537.4(CARS2):c.1417-2A>C	CARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2426830	NC_000013.10:g.(?_111286872)_(111319840_?)dup	CARS2, NAXD	Duplication	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2418172	NM_024537.4(CARS2):c.894G>A (p.Gln298=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2417325	NM_024537.4(CARS2):c.1060G>A (p.Asp354Asn)	CARS2 (D354N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2416455	NM_024537.4(CARS2):c.428A>G (p.Tyr143Cys)	CARS2 (Y143C)	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2386237	NM_024537.4(CARS2):c.826A>T (p.Ile276Leu)	CARS2 (I14L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333433	NM_024537.4(CARS2):c.586G>C (p.Asp196His)	CARS2 (D196H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325057	NM_024537.4(CARS2):c.539T>A (p.Ile180Asn)	CARS2 (I180N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2317618	NM_024537.4(CARS2):c.94C>T (p.Arg32Trp)	CARS2, LOC130010127 (R32W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298247	NM_024537.4(CARS2):c.1317G>C (p.Lys439Asn)	CARS2 (K439N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282899	NM_024537.4(CARS2):c.1223C>T (p.Ala408Val)	CARS2 (A146V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268232	NM_024537.4(CARS2):c.1399T>G (p.Ser467Ala)	CARS2 (S205A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261228	NM_024537.4(CARS2):c.1658T>C (p.Leu553Pro)	CARS2 (L553P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250020	NM_024537.4(CARS2):c.565G>A (p.Ala189Thr)	CARS2 (A189T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244619	NM_024537.4(CARS2):c.752C>G (p.Pro251Arg)	CARS2 (P251R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2231843	NM_024537.4(CARS2):c.361G>A (p.Val121Ile)	CARS2 (V121I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229341	NM_024537.4(CARS2):c.476C>A (p.Pro159His)	CARS2 (P159H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2202386	NM_024537.4(CARS2):c.96G>A (p.Arg32=)	CARS2, LOC130010127	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2196376	NM_024537.4(CARS2):c.526A>G (p.Ile176Val)	CARS2 (I176V)	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2193790	NM_024537.4(CARS2):c.1654C>A (p.Leu552Met)	CARS2 (L552M +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance

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