"Eurofins Ntd Llc (ga)"[submitter] AND "LARS2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501013	NM_015340.4(LARS2):c.556C>T (p.Gln186Ter)	LARS2 (Q186*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 226708	NM_015340.4(LARS2):c.972C>A (p.His324Gln)	LARS2 (H324Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 385666	NM_015340.4(LARS2):c.1383T>C (p.Ile461=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226694	NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)	LARS2, LARS2-AS1 (D518N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500586	NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)	LARS2 (V735I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 226703	NM_015340.4(LARS2):c.2307C>T (p.Ser769=)	LARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 501012	NM_015340.4(LARS2):c.2420C>T (p.Pro807Leu)	LARS2 (P807L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 218718	NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp)	LARS2 (E831D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 593111	NM_015340.4(LARS2):c.2560C>A (p.Pro854Thr)	LARS2 (P854T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385400	NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys)	LARS2 (E868K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign