GTF2H3[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2334640	NM_001516.5(GTF2H3):c.20A>T (p.Glu7Val)	GTF2H3 (E7V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483887	NM_001516.5(GTF2H3):c.53A>G (p.Asn18Ser)	GTF2H3 (N18S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3103091	NM_001516.5(GTF2H3):c.251A>C (p.Asp84Ala)	GTF2H3 (D43A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103092	NM_001516.5(GTF2H3):c.400G>A (p.Ala134Thr)	GTF2H3 (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208654	NM_001516.5(GTF2H3):c.439A>G (p.Met147Val)	GTF2H3 (M147V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223173	NM_001516.5(GTF2H3):c.601G>C (p.Gly201Arg)	GTF2H3 (G160R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar