"GeneDx"[submitter] AND "HSD3B2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 292254	NM_000198.3(HSD3B2):c.-145G>A	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 1214246	NM_000198.4(HSD3B2):c.143-215G>A	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720898	NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn)	HSD3B2 (D74N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 292256	NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1275953	NM_000198.4(HSD3B2):c.308-297C>T	HSD3B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203115	NM_000198.4(HSD3B2):c.308-282AC[11]	HSD3B2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1243214	NM_000198.4(HSD3B2):c.308-177T>C	HSD3B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312395	NM_000198.4(HSD3B2):c.568T>C (p.Tyr190His)	HSD3B2 (Y190H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36370	NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)	HSD3B2 (L236S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 292265	NM_000198.4(HSD3B2):c.777G>A (p.Thr259=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 292270	NM_000198.4(HSD3B2):c.*96C>G	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GBenign
Select item 292273	NM_000198.4(HSD3B2):c.*202A>G	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GBenign
Select item 292274	NM_000198.4(HSD3B2):c.*276C>T	HSD3B2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign