ClinVar for MedGen (Select 1799031) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
Select item 2192997	NM_024537.4(CARS2):c.1054+15C>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2187588	NM_024537.4(CARS2):c.946G>A (p.Glu316Lys)	CARS2 (E54K +1 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2186530	NM_024537.4(CARS2):c.1194-17C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2186519	NM_024537.4(CARS2):c.655+11C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2185776	NM_024537.4(CARS2):c.856G>A (p.Glu286Lys)	CARS2 (E286K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2181492	NM_024537.4(CARS2):c.409G>A (p.Ala137Thr)	CARS2 (A137T)	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2171301	NM_024537.4(CARS2):c.1358T>C (p.Ile453Thr)	CARS2 (I191T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2170723	NM_024537.4(CARS2):c.1490T>C (p.Val497Ala)	CARS2 (V497A +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2163616	NM_024537.4(CARS2):c.19G>A (p.Gly7Ser)	CARS2, LOC130010127 (G7S)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2161244	NM_024537.4(CARS2):c.771C>G (p.Cys257Trp)	CARS2 (C257W)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2159771	NM_024537.4(CARS2):c.1194-13C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2159135	NM_024537.4(CARS2):c.1624-15_1624-14del	CARS2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2156236	NM_024537.4(CARS2):c.1054+15C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2156123	NM_024537.4(CARS2):c.282T>C (p.Tyr94=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2154599	NM_024537.4(CARS2):c.1419C>T (p.Tyr473=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2151792	NM_024537.4(CARS2):c.656-15G>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2149938	NM_024537.4(CARS2):c.394-20C>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2144730	NM_024537.4(CARS2):c.977T>C (p.Ile326Thr)	CARS2 (I326T +1 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2143235	NM_024537.4(CARS2):c.354T>C (p.Ile118=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 2141108	NM_024537.4(CARS2):c.308T>G (p.Ile103Ser)	CARS2 (I103S)	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2137036	NM_024537.4(CARS2):c.717G>A (p.Glu239=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2134227	NM_024537.4(CARS2):c.1374A>G (p.Glu458=)	CARS2	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2132041	NM_024537.4(CARS2):c.1054+12A>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2128389	NM_024537.4(CARS2):c.1193G>A (p.Arg398Lys)	CARS2 (R136K +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2127690	NM_024537.4(CARS2):c.988-1G>A	CARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2126549	NM_024537.4(CARS2):c.1523C>A (p.Thr508Lys)	CARS2 (T246K +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2125921	NM_024537.4(CARS2):c.1054+11C>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2123011	NM_024537.4(CARS2):c.160G>T (p.Val54Leu)	CARS2, LOC130010127 (V54L)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2119635	NM_024537.4(CARS2):c.108G>C (p.Gly36=)	CARS2, LOC130010127	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2117551	NM_024537.4(CARS2):c.24_35del (p.Gly9_Pro12del)	CARS2, LOC130010127	Deletion (inframe_deletion +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2115275	NM_024537.4(CARS2):c.859A>G (p.Ile287Val)	CARS2 (I287V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2114574	NM_024537.4(CARS2):c.571+10A>G	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2112527	NM_024537.4(CARS2):c.1192_1193del (p.Arg398fs)	CARS2 (R398fs +1 more)	Microsatellite (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance
Select item 2110612	NM_024537.4(CARS2):c.275+12G>A	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27	GLikely benign
Select item 2102167	NM_024537.4(CARS2):c.122C>A (p.Ala41Asp)	CARS2, LOC130010127 (A41D)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation defect type 27	GUncertain significance

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