ClinVar for MedGen (Select 452446) - ClinVar

Links from MedGen

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2664185	NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)	HSD3B2 (H80Q)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
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 2585542	NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg)	HSD3B2 (S157R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 2507000	NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro)	HSD3B2 (L234P)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GLikely pathogenic
Select item 1878508	NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)	HSD3B2 (A204D)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 1709722	NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)	HSD3B2 (V99F)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 1565917	NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GLikely benign
Select item 1451900	NM_000198.4(HSD3B2):c.65dup (p.Leu22fs)	HSD3B2, LOC109029530 (L22fs)	Duplication (frameshift variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +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 1161398	NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1156570	NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148951	NM_000198.4(HSD3B2):c.246C>T (p.Ala82=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126733	NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GLikely benign
Select item 1126367	NM_000198.4(HSD3B2):c.411C>A (p.Ile137=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094191	NM_000198.4(HSD3B2):c.867G>C (p.Leu289=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090428	NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	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 1070043	NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)	HSD3B2 (A82T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1028127	NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)	HSD3B2 (T352K)	Indel (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
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 990728	NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	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 971607	NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)	HSD3B2 (G129R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 956384	NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)	HSD3B2 (Q334*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 944811	NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	HSD3B2 (L173R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 876191	NM_000198.4(HSD3B2):c.*411T>C	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 876144	NM_000198.4(HSD3B2):c.308-14C>A	HSD3B2	Single nucleotide variant (intron variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 874298	NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)	HSD3B2 (I270T)	Single nucleotide variant (missense variant)	not specified +2 more	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 804921	NM_000198.4(HSD3B2):c.714T>C (p.Ala238=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794002	NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)	HSD3B2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 763823	NM_000198.4(HSD3B2):c.143-7C>T	HSD3B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 753566	NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 753018	NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 738184	NM_000198.4(HSD3B2):c.613C>T (p.Leu205=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736354	NM_000198.4(HSD3B2):c.308-9C>T	HSD3B2	Single nucleotide variant (intron variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 729296	NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 726142	NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)	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 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 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 597649	NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)	HSD3B2 (R335*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 586031	NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)	HSD3B2 (K273fs)	Deletion (frameshift variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GPathogenic
Select item 517183	NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter)	HSD3B2 (W355*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 292275	NM_000198.4(HSD3B2):c.*321C>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 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 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 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 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 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 292268	NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)	HSD3B2 (R362W)	Single nucleotide variant (missense variant)	not provided +2 more	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 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 292265	NM_000198.4(HSD3B2):c.777G>A (p.Thr259=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GBenign
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 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 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 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 292260	NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292259	NM_000198.4(HSD3B2):c.423C>T (p.His141=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +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 292257	NM_000198.4(HSD3B2):c.308-8G>A	HSD3B2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 292255	NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)	HSD3B2, LOC109029530 (C5S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 36370	NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)	HSD3B2 (L236S)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 12194	NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu)	HSD3B2 (P341L)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GPathogenic
Select item 12193	NM_000198.4(HSD3B2):c.867del (p.Met290fs)	HSD3B2 (M290fs)	Deletion (frameshift variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
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 12191	NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	HSD3B2 (P222T)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GPathogenic
Select item 12190	NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)	HSD3B2 (E142K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12189	NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)	HSD3B2	Single nucleotide variant (stop lost)	3 beta-Hydroxysteroid dehydrogenase deficiency	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 12187	NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)	HSD3B2 (R249*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 12186	NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]	HSD3B2 (R249* +1 more)	Single nucleotide variant (nonsense +1 more)	3 beta-Hydroxysteroid dehydrogenase deficiency	GPathogenic
Select item 12185	NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)	HSD3B2 (T187fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 12184	NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)	HSD3B2 (W171*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 89