"Ambry Genetics"[submitter] AND "LOC126805685"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613949	NM_001856.4(COL16A1):c.2668C>T (p.Pro890Ser)	COL16A1, LOC126805685 (P890S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147266	NM_001856.4(COL16A1):c.2667G>A (p.Met889Ile)	COL16A1, LOC126805685 (M889I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147265	NM_001856.4(COL16A1):c.2653A>G (p.Ile885Val)	COL16A1, LOC126805685 (I885V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382056	NM_001856.4(COL16A1):c.2650C>T (p.Leu884Phe)	COL16A1, LOC126805685 (L884F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147264	NM_001856.4(COL16A1):c.2636C>A (p.Pro879His)	COL16A1, LOC126805685 (P879H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612454	NM_001856.4(COL16A1):c.2605G>C (p.Glu869Gln)	COL16A1, LOC126805685 (E869Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar