ClinVar for Gene (Select 3284) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346618	NM_000198.4(HSD3B2):c.442A>G (p.Asn148Asp)	HSD3B2 (N148D)	Single nucleotide variant (missense variant)	HSD3B2-related disorder	GUncertain significance
Select item 3336482	NM_000198.4(HSD3B2):c.320T>A (p.Leu107Gln)	HSD3B2 (L107Q)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3336416	NM_000198.4(HSD3B2):c.637A>G (p.Ser213Gly)	HSD3B2 (S213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284882	NM_000198.4(HSD3B2):c.437T>G (p.Leu146Arg)	HSD3B2 (L146R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284881	NM_000198.4(HSD3B2):c.1025T>G (p.Leu342Arg)	HSD3B2 (L342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284880	NM_000198.4(HSD3B2):c.595G>T (p.Ala199Ser)	HSD3B2 (A199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284877	NM_000198.4(HSD3B2):c.1085G>A (p.Arg362Gln)	HSD3B2 (R362Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3234415	NM_000198.4(HSD3B2):c.833G>A (p.Arg278His)	HSD3B2 (R278H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3107177	NM_000198.4(HSD3B2):c.911T>A (p.Leu304His)	HSD3B2 (L304H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3107175	NM_000198.4(HSD3B2):c.419G>T (p.Gly140Val)	HSD3B2 (G140V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107174	NM_000198.4(HSD3B2):c.418G>A (p.Gly140Ser)	HSD3B2 (G140S)	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 3063421	GRCh37/hg19 1p12(chr1:119425396-120523902)x3	ADAM30, HAO2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3019354	NM_000198.4(HSD3B2):c.143-15C>A	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017713	NM_000198.4(HSD3B2):c.822G>A (p.Glu274=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015154	NM_000198.4(HSD3B2):c.489G>A (p.Lys163=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015002	NM_000198.4(HSD3B2):c.207A>G (p.Lys69=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010528	NM_000198.4(HSD3B2):c.285C>T (p.Ser95=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2999760	NM_000198.4(HSD3B2):c.143-19C>G	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998538	NM_000198.4(HSD3B2):c.308-12C>T	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979536	NM_000198.4(HSD3B2):c.308-12C>G	HSD3B2	Single nucleotide variant (intron 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 2919254	NM_000198.4(HSD3B2):c.858T>G (p.Pro286=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918240	NM_000198.4(HSD3B2):c.308-15G>A	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913853	NM_000198.4(HSD3B2):c.294T>C (p.Asn98=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912331	NM_000198.4(HSD3B2):c.143-17G>C	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909522	NM_000198.4(HSD3B2):c.660C>G (p.Val220=)	HSD3B2	Single nucleotide variant (synonymous 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 2884899	NM_000198.4(HSD3B2):c.143-20C>G	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881203	NM_000198.4(HSD3B2):c.807C>T (p.Tyr269=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879558	NM_000198.4(HSD3B2):c.669C>A (p.Val223=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872532	NM_000198.4(HSD3B2):c.495G>C (p.Val165=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870504	NM_000198.4(HSD3B2):c.308-20A>G	HSD3B2	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 2860746	NM_000198.4(HSD3B2):c.307+16del	HSD3B2	Deletion (intron variant)	not provided	GBenign
Select item 2858116	NM_000198.4(HSD3B2):c.687C>A (p.Ala229=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855777	NM_000198.4(HSD3B2):c.498G>A (p.Leu166=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854582	NM_000198.4(HSD3B2):c.756C>T (p.Phe252=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847289	NM_000198.4(HSD3B2):c.308-18C>T	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845391	NM_000198.4(HSD3B2):c.308-16T>C	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844632	NM_000198.4(HSD3B2):c.696C>T (p.His232=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843684	NM_000198.4(HSD3B2):c.831C>T (p.Leu277=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2841295	NM_000198.4(HSD3B2):c.537G>A (p.Leu179=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839925	NM_000198.4(HSD3B2):c.811C>T (p.Leu271=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836644	NM_000198.4(HSD3B2):c.574dup (p.Glu192fs)	HSD3B2 (E192fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2836458	NM_000198.4(HSD3B2):c.1086G>A (p.Arg362=)	HSD3B2	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 2827249	NM_000198.4(HSD3B2):c.351A>C (p.Pro117=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826919	NM_000198.4(HSD3B2):c.1080G>T (p.Val360=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820447	NM_000198.4(HSD3B2):c.804T>C (p.Asn268=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815786	NM_000198.4(HSD3B2):c.597C>T (p.Ala199=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807723	NM_000198.4(HSD3B2):c.420C>T (p.Gly140=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798051	NM_000198.4(HSD3B2):c.789C>T (p.Ser263=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788698	NM_000198.4(HSD3B2):c.447A>G (p.Thr149=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780829	NM_000198.4(HSD3B2):c.834C>T (p.Arg278=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767592	NM_000198.4(HSD3B2):c.735C>T (p.Ala245=)	HSD3B2	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 2761538	NM_000198.4(HSD3B2):c.424G>T (p.Glu142Ter)	HSD3B2 (E142*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2755325	NM_000198.4(HSD3B2):c.307+13G>C	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749927	NM_000198.4(HSD3B2):c.143-4A>G	HSD3B2	Single nucleotide variant (intron 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 2746052	NM_000198.4(HSD3B2):c.1028dup (p.Tyr343Ter)	HSD3B2 (Y343*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2744452	NM_000198.4(HSD3B2):c.843C>A (p.Ser281=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737086	NM_000198.4(HSD3B2):c.546T>A (p.Cys182Ter)	HSD3B2 (C182*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2733972	NM_000198.4(HSD3B2):c.757T>A (p.Tyr253Asn)	HSD3B2 (Y253N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2733971	NM_000198.4(HSD3B2):c.652T>C (p.Ser218Pro)	HSD3B2 (S218P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2733970	NM_000198.4(HSD3B2):c.503del (p.Ala168fs)	HSD3B2 (A168fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2731762	NM_000198.4(HSD3B2):c.180del (p.Asp61fs)	HSD3B2 (D61fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2724866	NM_000198.4(HSD3B2):c.603A>T (p.Ile201=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709923	NM_000198.4(HSD3B2):c.813G>A (p.Leu271=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708780	NM_000198.4(HSD3B2):c.307+17A>T	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702010	NM_000198.4(HSD3B2):c.142+9A>T	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701091	NM_000198.4(HSD3B2):c.453C>T (p.Pro151=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700842	NM_000198.4(HSD3B2):c.308-5G>C	HSD3B2	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 2697657	NM_000198.4(HSD3B2):c.309T>C (p.Gly103=)	HSD3B2	Single nucleotide variant (synonymous 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 2695149	NM_000198.4(HSD3B2):c.495G>A (p.Val165=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685823	GRCh37/hg19 1p12(chr1:119802392-120138388)x3	HSD3B2, HAO2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685822	GRCh37/hg19 1p12(chr1:119426691-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
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 2635187	NM_000198.4(HSD3B2):c.308-1G>C	HSD3B2	Single nucleotide variant (splice acceptor variant)	HSD3B2-related disorder	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 2594192	NM_000198.4(HSD3B2):c.466T>C (p.Tyr156His)	HSD3B2 (Y156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594191	NM_000198.4(HSD3B2):c.454A>G (p.Thr152Ala)	HSD3B2 (T152A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2577239	NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)	HSD3B2 (A245P)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic

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