C0342471[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876143	NM_000198.4(HSD3B2):c.-106T>C	HSD3B2, LOC109029530	Single nucleotide variant (5 prime UTR variant +1 more)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 292255	NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)	HSD3B2, LOC109029530 (C5S)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 720898	NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn)	HSD3B2 (D74N)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 292256	NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876144	NM_000198.4(HSD3B2):c.308-14C>A	HSD3B2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 736354	NM_000198.4(HSD3B2):c.308-9C>T	HSD3B2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 292257	NM_000198.4(HSD3B2):c.308-8G>A	HSD3B2	Single nucleotide variant (intron variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292258	NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp)	HSD3B2 (C111W)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
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 715626	NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 724290	NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)	HSD3B2 (A167V)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292260	NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 292261	NM_000198.4(HSD3B2):c.510G>C (p.Gly170=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292262	NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292263	NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg)	HSD3B2 (G209R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 874297	NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)	HSD3B2 (V220A)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 36370	NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)	HSD3B2 (L236S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 292264	NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292265	NM_000198.4(HSD3B2):c.777G>A (p.Thr259=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GBenign
Select item 292266	NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg)	HSD3B2 (S263R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 874298	NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)	HSD3B2 (I270T)	Single nucleotide variant (missense variant)	HSD3B2-related condition +3 more	GUncertain significance
Select item 726142	NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)	HSD3B2	Single nucleotide variant (synonymous variant)	HSD3B2-related condition +2 more	GConflicting classifications of pathogenicity
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 292267	NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
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
Select item 292269	NM_000198.4(HSD3B2):c.*46C>T	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
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 292271	NM_000198.4(HSD3B2):c.*121C>A	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 292272	NM_000198.4(HSD3B2):c.*177C>T	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
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
Select item 292275	NM_000198.4(HSD3B2):c.*321C>G	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GBenign
Select item 292276	NM_000198.4(HSD3B2):c.*397T>A	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 876191	NM_000198.4(HSD3B2):c.*411T>C	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance

ClinVar

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Items: 34