ClinVar for Gene (Select 3283) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107172	NM_000862.3(HSD3B1):c.935G>A (p.Arg312Gln)	HSD3B1 (R312Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107170	NM_000862.3(HSD3B1):c.749G>A (p.Arg250Gln)	HSD3B1 (R250Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107169	NM_000862.3(HSD3B1):c.62G>A (p.Arg21His)	HSD3B1 (R21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107168	NM_000862.3(HSD3B1):c.61C>T (p.Arg21Cys)	HSD3B1 (R21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107167	NM_000862.3(HSD3B1):c.388G>A (p.Gly130Arg)	HSD3B1 (G130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107166	NM_000862.3(HSD3B1):c.279C>G (p.His93Gln)	HSD3B1 (H93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107164	NM_000862.3(HSD3B1):c.1113G>T (p.Lys371Asn)	HSD3B1 (K371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107163	NM_000862.3(HSD3B1):c.1043A>G (p.Glu348Gly)	HSD3B1 (E348G)	Single nucleotide variant (missense variant)	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 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 2611938	NM_000862.3(HSD3B1):c.855C>A (p.Ser285Arg)	HSD3B1 (S285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599024	NM_000862.3(HSD3B1):c.737C>T (p.Ala246Val)	HSD3B1 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594344	NM_000862.3(HSD3B1):c.503C>T (p.Ala168Val)	HSD3B1 (A168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589718	NM_000862.3(HSD3B1):c.226G>A (p.Val76Ile)	HSD3B1 (V76I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537371	NM_000862.3(HSD3B1):c.854G>A (p.Ser285Asn)	HSD3B1 (S285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510927	NM_000862.3(HSD3B1):c.210G>C (p.Lys70Asn)	HSD3B1 (K70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492433	NM_000862.3(HSD3B1):c.38G>T (p.Gly13Val)	HSD3B1 (G13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481191	NM_000862.3(HSD3B1):c.784C>T (p.His262Tyr)	HSD3B1 (H262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425620	NC_000001.10:g.(?_119466351)_(120286570_?)del	HAO2, HSD3B1 +5 more	Deletion	PHGDH deficiency	GPathogenic
Select item 2399922	NM_000862.3(HSD3B1):c.436C>T (p.Pro146Ser)	HSD3B1 (P146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383832	NM_000862.3(HSD3B1):c.736G>T (p.Ala246Ser)	HSD3B1 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367769	NM_000862.3(HSD3B1):c.232G>T (p.Val78Phe)	HSD3B1 (V78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344923	NM_000862.3(HSD3B1):c.111G>C (p.Lys37Asn)	HSD3B1 (K37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344191	NM_000862.3(HSD3B1):c.247G>A (p.Ala83Thr)	HSD3B1 (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342699	NM_000862.3(HSD3B1):c.674A>G (p.Tyr225Cys)	HSD3B1 (Y225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336069	NM_000862.3(HSD3B1):c.26C>G (p.Thr9Arg)	HSD3B1 (T9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323151	NM_000862.3(HSD3B1):c.529G>A (p.Gly177Ser)	HSD3B1 (G177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320349	NM_000862.3(HSD3B1):c.665A>G (p.Asn222Ser)	HSD3B1 (N222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313620	NM_000862.3(HSD3B1):c.949C>A (p.Arg317Ser)	HSD3B1 (R317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298627	NM_000862.3(HSD3B1):c.98G>C (p.Arg33Thr)	HSD3B1 (R33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275076	NM_000862.3(HSD3B1):c.742A>G (p.Ser248Gly)	HSD3B1 (S248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255959	NM_000862.3(HSD3B1):c.822A>C (p.Lys274Asn)	HSD3B1 (K274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245071	NM_000862.3(HSD3B1):c.719T>A (p.Leu240Gln)	HSD3B1 (L240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232897	NM_000862.3(HSD3B1):c.1040A>G (p.Glu347Gly)	HSD3B1 (E347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228547	NM_000862.3(HSD3B1):c.829G>T (p.Gly277Cys)	HSD3B1 (G277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221634	NM_000862.3(HSD3B1):c.835C>T (p.Arg279Cys)	HSD3B1 (R279C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809129	GRCh37/hg19 1p12(chr1:119836835-120151604)x4	HAO2, HSD3B1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1440997	NC_000001.10:g.(?_119427355)_(120529725_?)dup	ADAM30, HAO2 +9 more	Duplication	Hajdu-Cheney syndrome	GUncertain significance
Select item 1411990	NC_000001.10:g.(?_119618953)_(120311467_?)del	HAO2, HMGCS2 +5 more	Deletion	not provided	GUncertain significance
Select item 1340543	GRCh37/hg19 1p12(chr1:119584796-120527495)x3	ADAM30, HAO2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1274004	NM_000862.3(HSD3B1):c.1100C>A (p.Thr367Asn)	HSD3B1 (T367N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1222205	NM_000862.3(HSD3B1):c.235A>G (p.Ile79Val)	HSD3B1 (I79V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 814119	GRCh37/hg19 1p12(chr1:119836834-120289623)x3	HSD3B1, HAO2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686601	GRCh37/hg19 1p12(chr1:119425395-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 620577	NM_000862.3(HSD3B1):c.1100= (p.Thr367=)	HSD3B1	Single nucleotide variant (no sequence alteration)	Androgen deprivation therapy response	Gdrug response
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395148	GRCh37/hg19 1p12(chr1:119806427-120438201)x3	ADAM30, HAO2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 156430	NM_000862.3(HSD3B1):c.712A>T (p.Arg238Trp)	HSD3B1 (R238W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56