"HSD3B2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 719939	NM_000198.4(HSD3B2):c.5G>T (p.Gly2Val)	HSD3B2, LOC109029530 (G2V)	Single nucleotide variant (missense variant)	HSD3B2-related disorder +1 more	GLikely benign
Select item 753018	NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	HSD3B2-related disorder +2 more	GLikely benign
Select item 2635187	NM_000198.4(HSD3B2):c.308-1G>C	HSD3B2	Single nucleotide variant (splice acceptor variant)	HSD3B2-related disorder	GLikely pathogenic
Select item 1117119	NM_000198.4(HSD3B2):c.417C>T (p.Asn139=)	HSD3B2	Single nucleotide variant (synonymous variant)	HSD3B2-related disorder +1 more	GLikely benign
Select item 292259	NM_000198.4(HSD3B2):c.423C>T (p.His141=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 292260	NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)	HSD3B2	Single nucleotide variant (synonymous variant)	HSD3B2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 794002	NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 36370	NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)	HSD3B2 (L236S)	Single nucleotide variant (missense variant)	HSD3B2-related disorder +3 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 +2 more	GBenign
Select item 874298	NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)	HSD3B2 (I270T)	Single nucleotide variant (missense variant)	HSD3B2-related disorder +3 more	GUncertain significance
Select item 937691	NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)	HSD3B2 (Q311*)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 726142	NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity