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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129217	NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)	HCCS (G2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2391787	NM_005333.5(HCCS):c.46A>G (p.Asn16Asp)	HCCS (N16D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2231667	NM_005333.5(HCCS):c.168C>A (p.His56Gln)	HCCS (H56Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478045	NM_005333.5(HCCS):c.178G>A (p.Ala60Thr)	HCCS (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 129215	NM_005333.5(HCCS):c.215C>T (p.Ala72Val)	HCCS (A72V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 167163	NM_005333.5(HCCS):c.216G>C (p.Ala72=)	HCCS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1740941	NM_005333.5(HCCS):c.448A>G (p.Ile150Val)	HCCS (I150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2314866	NM_005333.5(HCCS):c.569A>G (p.Lys190Arg)	HCCS (K190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar