"Revvity Omics, Revvity"[submitter] AND "SLC35D2-HSD17B3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432537	NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu)	HSD17B3, SLC35D2-HSD17B3 (K237E)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
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 492761	NM_000197.2(HSD17B3):c.278-1G>C	SLC35D2-HSD17B3, 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)	Inborn genetic diseases +2 more	GPathogenic
Select item 2690623	NM_000197.2(HSD17B3):c.252del (p.Lys84fs)	HSD17B3, SLC35D2-HSD17B3 (K84fs)	Deletion (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
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 2440782	NM_000197.2(HSD17B3):c.65dup (p.Lys23fs)	HSD17B3, SLC35D2-HSD17B3 (K23fs)	Duplication (frameshift variant)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic

ClinVar