"Ambry Genetics"[submitter] AND "THAP11"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1957942	NM_020457.3(THAP11):c.38A>G (p.Asn13Ser)	CENPT, THAP11 (N13S)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082417	NM_020457.3(THAP11):c.298G>T (p.Ala100Ser)	CENPT, THAP11 (A100S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2364496	NM_020457.3(THAP11):c.395A>C (p.Gln132Pro)	THAP11, CENPT (Q132P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467321	NM_020457.3(THAP11):c.478C>T (p.Leu160Phe)	CENPT, THAP11 (L160F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321857	NM_020457.3(THAP11):c.502C>G (p.Gln168Glu)	CENPT, THAP11 (Q168E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2382136	NM_020457.3(THAP11):c.620C>G (p.Ala207Gly)	CENPT, THAP11 (A207G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar