"LARS2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226702	NM_015340.4(LARS2):c.22T>C (p.Leu8=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 227492	NM_015340.4(LARS2):c.255C>T (p.Tyr85=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1288203	NM_015340.4(LARS2):c.362A>G (p.Gln121Arg)	LARS2 (Q121R)	Single nucleotide variant (missense variant)	LARS2-related disorder +1 more	GBenign/Likely benign
Select item 2081860	NM_015340.4(LARS2):c.414C>T (p.Ala138=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 226706	NM_015340.4(LARS2):c.765G>A (p.Ala255=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1031906	NM_015340.4(LARS2):c.944C>T (p.Ser315Leu)	LARS2 (S315L)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +2 more	GConflicting classifications of pathogenicity
Select item 226707	NM_015340.4(LARS2):c.945G>C (p.Ser315=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 504761	NM_015340.4(LARS2):c.1008C>T (p.Val336=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3029784	NM_015340.4(LARS2):c.1123+7A>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	LARS2-related disorder	GLikely benign
Select item 226692	NM_015340.4(LARS2):c.1131C>T (p.Pro377=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 667121	NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)	LARS2, LARS2-AS1 (A393D)	Single nucleotide variant (missense variant)	LARS2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 726572	NM_015340.4(LARS2):c.1197A>G (p.Glu399=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	LARS2-related disorder +1 more	GBenign/Likely benign
Select item 2171209	NM_015340.4(LARS2):c.1240-7C>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3053015	NM_015340.4(LARS2):c.1523+10_1523+20del	LARS2, LARS2-AS1	Deletion (intron variant)	LARS2-related disorder	GLikely benign
Select item 3049945	NM_015340.4(LARS2):c.1523+9_1523+10insAGTT	LARS2, LARS2-AS1	Insertion (intron variant)	LARS2-related disorder	GLikely benign
Select item 226696	NM_015340.4(LARS2):c.1692C>T (p.Ala564=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 504763	NM_015340.4(LARS2):c.1938C>T (p.Asn646=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 226699	NM_015340.4(LARS2):c.2124T>C (p.Ser708=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 226701	NM_015340.4(LARS2):c.2181G>T (p.Lys727Asn)	LARS2 (K727N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 226703	NM_015340.4(LARS2):c.2307C>T (p.Ser769=)	LARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2162205	NM_015340.4(LARS2):c.2412G>A (p.Ala804=)	LARS2	Single nucleotide variant (synonymous variant)	LARS2-related disorder +1 more	GLikely benign
Select item 218718	NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp)	LARS2 (E831D)	Single nucleotide variant (missense variant)	LARS2-related disorder +3 more	GBenign
Select item 226705	NM_015340.4(LARS2):c.2547T>C (p.Ala849=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 385400	NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys)	LARS2 (E868K)	Single nucleotide variant (missense variant)	Perrault syndrome 4 +3 more	GBenign/Likely benign

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Items: 24