"Ambry Genetics"[submitter] AND "SLC35D2-HSD17B3"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265484	NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu)	HSD17B3, SLC35D2-HSD17B3 (P282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2482188	NM_000197.2(HSD17B3):c.635T>G (p.Leu212Arg)	HSD17B3, SLC35D2-HSD17B3 (L212R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4875	NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val)	HSD17B3, SLC35D2-HSD17B3 (A203V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2211849	NM_000197.2(HSD17B3):c.481G>A (p.Val161Ile)	HSD17B3, HSD17B3-AS1 +1 more (V161I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408038	NM_000197.2(HSD17B3):c.440C>T (p.Pro147Leu)	HSD17B3, SLC35D2-HSD17B3 (P147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516638	NM_000197.2(HSD17B3):c.313G>A (p.Ala105Thr)	HSD17B3, SLC35D2-HSD17B3 (A105T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 492761	NM_000197.2(HSD17B3):c.278-1G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 208587	NM_000197.2(HSD17B3):c.277+4A>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	Testosterone 17-beta-dehydrogenase deficiency +3 more	GPathogenic
Select item 2526289	NM_000197.2(HSD17B3):c.88T>G (p.Cys30Gly)	HSD17B3, SLC35D2-HSD17B3 (C30G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2523442	NM_007001.3(SLC35D2):c.107C>A (p.Thr36Asn)	SLC35D2-HSD17B3, LOC130002147 +1 more (T36N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance

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Items: 24