Related gene-specific medical variations for Gene (Select 100507341) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320975	NM_001206847.2(SMIM18):c.251T>C (p.Met84Thr)	GTF2E2, SMIM18 (M84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166566	NM_001206847.2(SMIM18):c.50T>C (p.Leu17Pro)	GTF2E2, SMIM18 (L17P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166565	NM_001206847.2(SMIM18):c.221A>G (p.Lys74Arg)	GTF2E2, SMIM18 (K74R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658515	NM_001206847.2(SMIM18):c.149T>C (p.Val50Ala)	GTF2E2, SMIM18 (V50A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2606896	NM_001206847.2(SMIM18):c.209T>C (p.Val70Ala)	GTF2E2, SMIM18 (V70A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330070	NM_001206847.2(SMIM18):c.53G>C (p.Gly18Ala)	GTF2E2, SMIM18 (G18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248849	NM_001206847.2(SMIM18):c.148G>A (p.Val50Met)	GTF2E2, SMIM18 (V50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar