Related gene-specific medical variations for Gene (Select 3284) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107176	NM_000198.4(HSD3B2):c.41T>C (p.Leu14Pro)	HSD3B2, LOC109029530 (L14P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107173	NM_000198.4(HSD3B2):c.22A>G (p.Thr8Ala)	HSD3B2, LOC109029530 (T8A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063466	GRCh37/hg19 1p12(chr1:119959511-119988221)x1	HSD3B2	Copy number loss	not specified	GUncertain significance
Select item 3008034	NM_000198.4(HSD3B2):c.132G>A (p.Glu44=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961055	NM_000198.4(HSD3B2):c.131_132del (p.Glu44fs)	HSD3B2, LOC109029530 (E44fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2955586	NM_000198.4(HSD3B2):c.142+18A>T	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897594	NM_000198.4(HSD3B2):c.6C>T (p.Gly2=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890098	NM_000198.4(HSD3B2):c.142+16T>G	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885258	NM_000198.4(HSD3B2):c.142+15G>A	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865706	NM_000198.4(HSD3B2):c.76A>T (p.Lys26Ter)	HSD3B2, LOC109029530 (K26*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2841686	NM_000198.4(HSD3B2):c.60C>T (p.Arg20=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836295	NM_000198.4(HSD3B2):c.15C>T (p.Cys5=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764053	NM_000198.4(HSD3B2):c.142+11T>C	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763524	NM_000198.4(HSD3B2):c.117A>G (p.Arg39=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748075	NM_000198.4(HSD3B2):c.1A>T (p.Met1Leu)	HSD3B2, LOC109029530 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2702010	NM_000198.4(HSD3B2):c.142+9A>T	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699808	NM_000198.4(HSD3B2):c.142+17C>T	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697329	NM_000198.4(HSD3B2):c.133G>T (p.Glu45Ter)	HSD3B2, LOC109029530 (E45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2696627	NM_000198.4(HSD3B2):c.90G>A (p.Glu30=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2674691	NM_000198.4(HSD3B2):c.947G>A (p.Arg316His)	HSD3B2 (R316H)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GPathogenic
Select item 2674679	NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)	HSD3B2 (Y264C)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GLikely pathogenic
Select item 2674668	NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)	HSD3B2	Deletion (inframe_deletion)	3 beta-Hydroxysteroid dehydrogenase deficiency	GPathogenic
Select item 2674656	NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)	HSD3B2 (V116G)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GLikely pathogenic
Select item 2627782	NM_000198.4(HSD3B2):c.563A>G (p.Tyr188Cys)	HSD3B2 (Y188C)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 2413120	NM_000198.4(HSD3B2):c.507T>A (p.Asn169Lys)	HSD3B2 (N169K)	Single nucleotide variant (missense variant)	Hypospadias 1, X-linked	GLikely pathogenic
Select item 2094534	NM_000198.4(HSD3B2):c.127A>C (p.Arg43=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076342	NM_000198.4(HSD3B2):c.114C>T (p.Phe38=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034193	NM_000198.4(HSD3B2):c.81A>G (p.Glu27=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672505	NM_000198.4(HSD3B2):c.57C>T (p.Val19=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623651	NM_000198.4(HSD3B2):c.99C>T (p.Ala33=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612290	NM_000198.4(HSD3B2):c.54C>T (p.Ile18=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538654	NM_000198.4(HSD3B2):c.39T>A (p.Leu13=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513071	NM_000198.4(HSD3B2):c.35G>A (p.Gly12Glu)	HSD3B2, LOC109029530 (G12E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1451900	NM_000198.4(HSD3B2):c.65dup (p.Leu22fs)	HSD3B2, LOC109029530 (L22fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1324550	NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter)	HSD3B2 (W292*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency	GLikely pathogenic
Select item 1135782	NM_000198.4(HSD3B2):c.27A>G (p.Gly9=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130284	NM_000198.4(HSD3B2):c.36G>A (p.Gly12=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1129053	NM_000198.4(HSD3B2):c.60C>G (p.Arg20=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114598	NM_000198.4(HSD3B2):c.12C>T (p.Ser4=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091121	NM_000198.4(HSD3B2):c.33A>G (p.Gly11=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090784	NM_000198.4(HSD3B2):c.48G>A (p.Gln16=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 990730	NM_000198.4(HSD3B2):c.*9T>A	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 990729	NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln)	HSD3B2 (R249Q)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GLikely benign
Select item 990727	NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val)	HSD3B2 (I210V)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 946461	NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter)	HSD3B2, LOC109029530 (W3*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 917499	NM_000198.4(HSD3B2):c.742_743delinsAA (p.Val248Asn)	HSD3B2 (V248N)	Indel (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 795004	NM_000198.4(HSD3B2):c.96G>A (p.Arg32=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 292254	NM_000198.3(HSD3B2):c.-145G>A	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55