Related gene-specific medical variations for Gene (Select 347454) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167688	NM_001105576.3(SOWAHD):c.7C>G (p.Gln3Glu)	LOC130068614, SOWAHD (Q3E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167687	NM_001105576.3(SOWAHD):c.76G>A (p.Ala26Thr)	LOC130068614, SOWAHD (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167680	NM_001105576.3(SOWAHD):c.106A>G (p.Thr36Ala)	LOC130068614, SOWAHD (T36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315184	NM_001105576.3(SOWAHD):c.79C>T (p.Pro27Ser)	LOC130068614, SOWAHD (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269576	NM_001105576.3(SOWAHD):c.40G>T (p.Ala14Ser)	LOC130068614, SOWAHD (A14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214713	NM_001105576.3(SOWAHD):c.186C>G (p.His62Gln)	LOC130068614, SOWAHD (H62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar