"PreventionGenetics, part of Exact Sciences"[submitter] AND "CARS2"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475625	NM_024537.4(CARS2):c.1683dup (p.Ser562fs)	CARS2 (S300fs +1 more)	Duplication (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 27 +2 more	GConflicting classifications of pathogenicity
Select item 381419	NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu)	CARS2 (K561E +1 more)	Single nucleotide variant (missense variant +1 more)	CARS2-related disorder +2 more	GBenign
Select item 475624	NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)	CARS2 (S544R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 475621	NM_024537.4(CARS2):c.1578C>T (p.Cys526=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	CARS2-related disorder +1 more	GLikely benign
Select item 1081523	NM_024537.4(CARS2):c.1566G>A (p.Leu522=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27 +1 more	GLikely benign
Select item 542311	NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln)	CARS2 (R512Q +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 27 +1 more	GLikely benign
Select item 386020	NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr)	CARS2 (A511T +1 more)	Single nucleotide variant (missense variant +1 more)	CARS2-related disorder +2 more	GBenign/Likely benign
Select item 475619	NM_024537.4(CARS2):c.1489G>A (p.Val497Ile)	CARS2 (V497I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 390277	NM_024537.4(CARS2):c.1308G>A (p.Ala436=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27 +2 more	GBenign/Likely benign
Select item 795919	NM_024537.4(CARS2):c.1233A>C (p.Ala411=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	CARS2-related disorder +1 more	GLikely benign
Select item 964403	NM_024537.4(CARS2):c.1194-3C>T	CARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 27 +1 more	GConflicting classifications of pathogenicity
Select item 760966	NM_024537.4(CARS2):c.1161C>T (p.Cys387=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	CARS2-related disorder +1 more	GLikely benign
Select item 382065	NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys)	CARS2 (R378C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 390085	NM_024537.4(CARS2):c.1074C>T (p.Ser358=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 475614	NM_024537.4(CARS2):c.1059C>T (p.Ile353=)	CARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 27 +1 more	GBenign/Likely benign
Select item 382783	NM_024537.4(CARS2):c.1054+8G>A	CARS2	Single nucleotide variant (intron variant)	CARS2-related disorder +2 more	GBenign/Likely benign
Select item 390087	NM_024537.4(CARS2):c.930C>T (p.His310=)	CARS2	Single nucleotide variant (synonymous variant +2 more)	CARS2-related disorder +2 more	GBenign/Likely benign
Select item 784903	NM_024537.4(CARS2):c.780C>T (p.Ile260=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	CARS2-related disorder +1 more	GLikely benign
Select item 1131441	NM_024537.4(CARS2):c.753G>A (p.Pro251=)	CARS2	Single nucleotide variant (5 prime UTR variant +2 more)	CARS2-related disorder +1 more	GLikely benign
Select item 475628	NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)	CARS2 (R101Q)	Single nucleotide variant (5 prime UTR variant +2 more)	CARS2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 475617	NM_024537.4(CARS2):c.122C>T (p.Ala41Val)	CARS2, LOC130010127 (A41V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign

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Items: 21