ClinVar for MedGen (Select 10991) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492767	NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu)	SLC35D2-HSD17B3, HSD17B3 (V205E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 492766	NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)	HSD17B3, SLC35D2-HSD17B3 (P193H)	Single nucleotide variant (missense variant)	Pseudohermaphroditism	GLikely pathogenic
Select item 492765	NM_000197.2(HSD17B3):c.454-1G>A	HSD17B3-AS1, SLC35D2-HSD17B3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohermaphroditism	GPathogenic
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 492763	NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg)	HSD17B3, SLC35D2-HSD17B3 (G133R)	Single nucleotide variant (missense variant)	Pseudohermaphroditism	GPathogenic
Select item 492762	NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)	HSD17B3, SLC35D2-HSD17B3 (L128S)	Single nucleotide variant (missense variant)	Pseudohermaphroditism	GLikely 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 492760	NM_000197.2(HSD17B3):c.121_122del (p.Lys41fs)	HSD17B3, SLC35D2-HSD17B3 (K41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 492758	NM_000233.4(LHCGR):c.580T>G (p.Phe194Val)	LHCGR, STON1-GTF2A1L (F194V)	Single nucleotide variant (missense variant +1 more)	Pseudohermaphroditism	GPathogenic
Select item 424781	NM_000197.1(HSD17B3):c.[194C>T];[239G>A]			Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
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 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 4877	NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp)	HSD17B3, SLC35D2-HSD17B3 (R80W)	Single nucleotide variant (missense variant)	not provided +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 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