"Ambry Genetics"[submitter] AND "SIAH2-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2341509	NM_005067.7(SIAH2):c.224C>T (p.Thr75Ile)	SIAH2, SIAH2-AS1 (T75I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215027	NM_005067.7(SIAH2):c.130G>A (p.Gly44Ser)	SIAH2, SIAH2-AS1 (G44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278748	NM_005067.7(SIAH2):c.94C>T (p.Pro32Ser)	SIAH2, SIAH2-AS1 (P32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343497	NM_005067.7(SIAH2):c.80C>G (p.Pro27Arg)	SIAH2, SIAH2-AS1 (P27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534559	NM_005067.7(SIAH2):c.47G>A (p.Ser16Asn)	SIAH2-AS1, SIAH2 (S16N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485625	NM_005067.7(SIAH2):c.41C>A (p.Pro14His)	SIAH2, SIAH2-AS1 (P14H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235034	NM_005067.7(SIAH2):c.35A>G (p.Asn12Ser)	SIAH2, SIAH2-AS1 (N12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216592	NM_005067.7(SIAH2):c.19A>C (p.Thr7Pro)	SIAH2, SIAH2-AS1 (T7P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar