"Ambry Genetics"[submitter] AND "LOC105373835"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2493082	NM_001321623.1(HYCC2):c.1385A>G (p.Lys462Arg)	HYCC2, LOC105373835 (K406R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621570	NM_001321623.1(HYCC2):c.1361G>C (p.Ser454Thr)	HYCC2, LOC105373835 (S316T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483028	NM_001321623.1(HYCC2):c.871C>G (p.Pro291Ala)	HYCC2, LOC105373835 (P209A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486399	NM_001321623.1(HYCC2):c.713T>C (p.Val238Ala)	HYCC2, LOC105373835 (V156A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488093	NM_001321623.1(HYCC2):c.650G>A (p.Arg217Gln)	HYCC2, LOC105373835 (R217Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490063	NM_001321623.1(HYCC2):c.166G>C (p.Val56Leu)	HYCC2, LOC105373835 (V56L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar