Related gene-specific medical variations for Gene (Select 54414) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362742	NM_170601.5(SIAE):c.1318G>A (p.Glu440Lys)	SIAE (E405K +1 more)	Single nucleotide variant (missense variant)	Autoimmune disease, susceptibility to, 6	GUncertain significance
Select item 3167971	NM_017425.4(SPA17):c.151G>C (p.Glu51Gln)	SIAE, SPA17 (E51Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549280	NM_017425.4(SPA17):c.59T>C (p.Leu20Pro)	SIAE, SPA17 (L20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535872	NM_017425.4(SPA17):c.58C>T (p.Leu20Phe)	SIAE, SPA17 (L20F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403363	NM_017425.4(SPA17):c.7A>G (p.Ile3Val)	SIAE, SPA17 (I3V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2283118	NM_017425.4(SPA17):c.41A>T (p.Gln14Leu)	SIAE, SPA17 (Q14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242971	NM_017425.4(SPA17):c.76G>A (p.Glu26Lys)	SIAE, SPA17 (E26K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231925	NM_017425.4(SPA17):c.149G>C (p.Arg50Thr)	SIAE, SPA17 (R50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar