"GeneDx"[submitter] AND "SLC35D2-HSD17B3"[gene] - ClinVar

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Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 59904	GRCh38/hg38 9q22.32-22.33(chr9:96094968-96620662)x3	CDC14B, HABP4 +32 more	Copy number gain	See cases	GPathogenic
Select item 255511	NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser)	HSD17B3, SLC35D2-HSD17B3 (G289S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 265484	NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu)	HSD17B3, SLC35D2-HSD17B3 (P282L)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1220642	NM_000197.2(HSD17B3):c.823-67_823-59del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GBenign
Select item 1273772	NM_000197.2(HSD17B3):c.822+285G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253389	NM_000197.2(HSD17B3):c.822+186C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271367	NM_000197.2(HSD17B3):c.822+155G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204892	NM_000197.2(HSD17B3):c.822+39G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720400	NM_000197.2(HSD17B3):c.804C>T (p.Cys268=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1291003	NM_000197.2(HSD17B3):c.673-75G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255510	NM_000197.2(HSD17B3):c.672+33A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2440772	NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)	HSD17B3, SLC35D2-HSD17B3 (E215D)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 1245104	NM_000197.2(HSD17B3):c.607-23G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226597	NM_000197.2(HSD17B3):c.607-48C>T	SLC35D2-HSD17B3, HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204472	NM_000197.2(HSD17B3):c.607-140A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232739	NM_000197.2(HSD17B3):c.607-213A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183537	NM_000197.2(HSD17B3):c.607-279dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not provided	GBenign
Select item 1208841	NM_000197.2(HSD17B3):c.607-270del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GLikely benign
Select item 1235087	NM_000197.2(HSD17B3):c.607-281G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194855	NM_000197.2(HSD17B3):c.606+220C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239151	NM_000197.2(HSD17B3):c.525-199C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277485	NM_000197.2(HSD17B3):c.524+280A>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182347	NM_000197.2(HSD17B3):c.454-209G>A	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1251434	NM_000197.2(HSD17B3):c.454-284G>A	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1194375	NM_000197.2(HSD17B3):c.453+223C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300706	NM_000197.2(HSD17B3):c.453+161C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237994	NM_000197.2(HSD17B3):c.453+84G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255509	NM_000197.2(HSD17B3):c.453+37T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 492764	NM_000197.2(HSD17B3):c.414_416del (p.Leu139del)	HSD17B3, SLC35D2-HSD17B3 (L139del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1202929	NM_000197.2(HSD17B3):c.385+245dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not provided	GLikely benign
Select item 1280128	NM_000197.2(HSD17B3):c.385+260del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GBenign
Select item 2663623	NM_000197.2(HSD17B3):c.361G>A (p.Ala121Thr)	HSD17B3, SLC35D2-HSD17B3 (A121T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 367681	NM_000197.2(HSD17B3):c.333C>T (p.Asp111=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1255201	NM_000197.2(HSD17B3):c.278-67G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281789	NM_000197.2(HSD17B3):c.277+254T>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260794	NM_000197.2(HSD17B3):c.277+230G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 208587	NM_000197.2(HSD17B3):c.277+4A>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 4874	NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln)	HSD17B3, SLC35D2-HSD17B3 (R80Q)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GPathogenic
Select item 488878	NM_000197.2(HSD17B3):c.202-1G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1258697	NM_000197.2(HSD17B3):c.202-187C>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261313	NM_000197.2(HSD17B3):c.201+117G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286110	NM_000197.2(HSD17B3):c.201+86A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252269	NM_000197.2(HSD17B3):c.201+38T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367683	NM_000197.2(HSD17B3):c.195G>A (p.Ser65=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign
Select item 1183274	NM_000197.2(HSD17B3):c.155-138C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678832	NM_000197.2(HSD17B3):c.155-206dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not provided	GLikely benign
Select item 1215681	NM_000197.2(HSD17B3):c.155-299G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206617	NM_000197.2(HSD17B3):c.155-308C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291875	NM_000197.2(HSD17B3):c.154+265C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270335	NM_000197.2(HSD17B3):c.154+225dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not provided	GBenign
Select item 1269937	NM_000197.2(HSD17B3):c.154+240del	HSD17B3, SLC35D2-HSD17B3	Deletion (intron variant)	not provided	GBenign
Select item 1270765	NM_000197.2(HSD17B3):c.154+197C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205630	NM_000197.2(HSD17B3):c.154+193T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255508	NM_000197.2(HSD17B3):c.154+24dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not specified +1 more	GBenign
Select item 708567	NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)	HSD17B3, SLC35D2-HSD17B3 (R45W)	Single nucleotide variant (missense variant)	HSD17B3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 367684	NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile)	HSD17B3, SLC35D2-HSD17B3 (V31I)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign
Select item 367687	NM_000197.2(HSD17B3):c.-10G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign
Select item 367688	NM_000197.2(HSD17B3):c.-29A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign
Select item 255507	NM_000197.2(HSD17B3):c.-39A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1220320	NC_000009.12:g.96302336A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign

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Items: 66