C0342471[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1076441	NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)	HSD3B2, LOC109029530 (C5*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 12188	NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	HSD3B2, LOC109029530 (A10E)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GLikely pathogenic
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 753566	NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GLikely benign
Select item 1126733	NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1070043	NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)	HSD3B2 (A82T)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 1160815	NM_000198.4(HSD3B2):c.258T>C (p.Asp86=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 944811	NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	HSD3B2 (L173R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1565917	NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1090428	NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 729296	NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 12192	NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	HSD3B2 (T259M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 12193	NM_000198.4(HSD3B2):c.867del (p.Met290fs)	HSD3B2 (M290fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 597649	NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)	HSD3B2 (R335*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 874299	NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)	HSD3B2 (A338T)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 792224	NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 292268	NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)	HSD3B2 (R362W)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GUncertain significance