Related gene-specific medical variations for Gene (Select 11046) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164361	NM_007001.3(SLC35D2):c.957C>G (p.Ser319Arg)	SLC35D2, SLC35D2-HSD17B3 (S231R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164359	NM_007001.3(SLC35D2):c.712G>A (p.Val238Ile)	SLC35D2, SLC35D2-HSD17B3 (V238I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164358	NM_007001.3(SLC35D2):c.302A>G (p.Tyr101Cys)	SLC35D2, SLC35D2-HSD17B3 (Y101C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164356	NM_007001.3(SLC35D2):c.134A>G (p.Asn45Ser)	LOC130002147, SLC35D2 +1 more (N45S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602982	NM_007001.3(SLC35D2):c.580A>G (p.Met194Val)	SLC35D2, SLC35D2-HSD17B3 (M194V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559199	NM_007001.3(SLC35D2):c.137A>G (p.Lys46Arg)	LOC130002147, SLC35D2 +1 more (K46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523442	NM_007001.3(SLC35D2):c.107C>A (p.Thr36Asn)	LOC130002147, SLC35D2 +1 more (T36N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377341	NM_007001.3(SLC35D2):c.155A>G (p.Tyr52Cys)	LOC130002147, SLC35D2 +1 more (Y52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356544	NM_007001.3(SLC35D2):c.353C>T (p.Pro118Leu)	SLC35D2, SLC35D2-HSD17B3 (P118L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340153	NM_007001.3(SLC35D2):c.312C>A (p.Asn104Lys)	SLC35D2, SLC35D2-HSD17B3 (N104K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337099	NM_007001.3(SLC35D2):c.765G>A (p.Met255Ile)	SLC35D2, SLC35D2-HSD17B3 (M167I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330185	NM_007001.3(SLC35D2):c.136A>G (p.Lys46Glu)	LOC130002147, SLC35D2 +1 more (K46E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302406	NM_007001.3(SLC35D2):c.301T>A (p.Tyr101Asn)	SLC35D2, SLC35D2-HSD17B3 (Y101N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299799	NM_007001.3(SLC35D2):c.635T>C (p.Met212Thr)	SLC35D2, SLC35D2-HSD17B3 (M212T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277101	NM_007001.3(SLC35D2):c.518A>C (p.Tyr173Ser)	SLC35D2, SLC35D2-HSD17B3 (Y173S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256397	NM_007001.3(SLC35D2):c.450T>G (p.Ser150Arg)	SLC35D2, SLC35D2-HSD17B3 (S150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250157	NM_007001.3(SLC35D2):c.32G>A (p.Gly11Asp)	LOC130002147, SLC35D2 +1 more (G11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226088	NM_007001.3(SLC35D2):c.728A>G (p.Gln243Arg)	SLC35D2, SLC35D2-HSD17B3 (Q243R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214337	NM_007001.3(SLC35D2):c.688A>G (p.Thr230Ala)	SLC35D2, SLC35D2-HSD17B3 (T230A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance