"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC35D2-H - ClinVar - NCBI

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Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034067	NM_000197.2(HSD17B3):c.928A>C (p.Arg310=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	HSD17B3-related disorder	GLikely benign
Select item 255511	NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser)	HSD17B3, SLC35D2-HSD17B3 (G289S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 741127	NM_000197.2(HSD17B3):c.619G>A (p.Ala207Thr)	SLC35D2-HSD17B3, HSD17B3 (A207T)	Single nucleotide variant (missense variant)	HSD17B3-related disorder +1 more	GLikely benign
Select item 2969221	NM_000197.2(HSD17B3):c.588C>A (p.Ser196=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (non-coding transcript variant +1 more)	HSD17B3-related disorder +1 more	GLikely benign
Select item 255509	NM_000197.2(HSD17B3):c.453+37T>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 367681	NM_000197.2(HSD17B3):c.333C>T (p.Asp111=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 724742	NM_000197.2(HSD17B3):c.304A>T (p.Ile102Phe)	HSD17B3, SLC35D2-HSD17B3 (I102F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 208587	NM_000197.2(HSD17B3):c.277+4A>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 255508	NM_000197.2(HSD17B3):c.154+24dup	HSD17B3, SLC35D2-HSD17B3	Duplication (intron variant)	not specified +1 more	GBenign
Select item 3042401	NM_000197.2(HSD17B3):c.154+6G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	HSD17B3-related disorder	GLikely benign
Select item 708567	NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)	HSD17B3, SLC35D2-HSD17B3 (R45W)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 367685	NM_000197.2(HSD17B3):c.9C>T (p.Asp3=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 255507	NM_000197.2(HSD17B3):c.-39A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign