"Ambry Genetics"[submitter] AND "LOC126862685"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2253438	NM_005559.4(LAMA1):c.7774C>T (p.Arg2592Trp)	LAMA1, LOC126862685 (R2592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591457	NM_005559.4(LAMA1):c.7748C>G (p.Ala2583Gly)	LAMA1, LOC126862685 (A2583G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1370338	NM_005559.4(LAMA1):c.7748C>T (p.Ala2583Val)	LAMA1, LOC126862685 (A2583V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2589351	NM_005559.4(LAMA1):c.7706C>T (p.Ala2569Val)	LAMA1, LOC126862685 (A2569V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486087	NM_005559.4(LAMA1):c.7688G>C (p.Gly2563Ala)	LAMA1, LOC126862685 (G2563A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2086183	NM_005559.4(LAMA1):c.7639G>A (p.Val2547Ile)	LAMA1, LOC126862685 (V2547I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar