HSD17B3[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1219146	NC_000009.12:g.96235172G>A	HSD17B3	Single nucleotide variant	not provided	GLikely benign
Select item 2674669	NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)	HSD17B3 (V225M)	Single nucleotide variant (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674667	NM_000197.2(HSD17B3):c.590T>A (p.Met197Lys)	HSD17B3 (M197K)	Single nucleotide variant (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2674666	NM_000197.2(HSD17B3):c.277+5G>A	HSD17B3	Single nucleotide variant (intron variant)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2674665	NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)	HSD17B3 (L68R)	Single nucleotide variant (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GPathogenic
Select item 2674664	NM_000197.2(HSD17B3):c.201+1G>A	HSD17B3	Single nucleotide variant (splice donor variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674663	NM_000197.2(HSD17B3):c.1A>G (p.Met1Val)	HSD17B3 (M1V)	Single nucleotide variant (non-coding transcript variant +2 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic

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