"Ambry Genetics"[submitter] AND "LOC130064419"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1055474	NM_203486.3(DLL3):c.1483C>T (p.Pro495Ser)	DLL3, LOC130064419 (P495S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2380242	NM_203486.3(DLL3):c.1498C>T (p.Leu500Phe)	LOC130064419, DLL3 (L500F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3082920	NM_203486.3(DLL3):c.1516G>A (p.Ala506Thr)	DLL3, LOC130064419 (A506T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378281	NM_203486.3(DLL3):c.1525G>A (p.Ala509Thr)	DLL3, LOC130064419 (A509T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082921	NM_203486.3(DLL3):c.1532T>G (p.Leu511Trp)	DLL3, LOC130064419 (L511W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526347	NM_203486.3(DLL3):c.1544T>A (p.Val515Glu)	DLL3, LOC130064419 (V515E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307332	NM_203486.3(DLL3):c.1603C>T (p.Pro535Ser)	DLL3, LOC130064419 (P535S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar