AKR1C3[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 149208	GRCh38/hg38 10p15.1(chr10:4836712-5161722)x1	AKR1C1, AKR1C2 +12 more	Copy number loss	See cases	GLikely benign
Select item 148178	GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3	AKR1C1, AKR1C2 +52 more	Copy number gain	See cases	GUncertain significance
Select item 154105	GRCh38/hg38 10p15.1(chr10:4892139-5164086)x1	AKR1C1, AKR1C2 +9 more	Copy number loss	See cases	GLikely benign
Select item 161618	NM_003739.6(AKR1C3):c.27G>T (p.Lys9Asn)	AKR1C3, LOC121366038 (K9N)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2336985	NM_003739.6(AKR1C3):c.48G>A (p.Met16Ile)	AKR1C3, LOC121366038 (M16I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3282698	NM_003739.6(AKR1C3):c.101C>T (p.Ala34Val)	AKR1C3 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401141	NM_003739.6(AKR1C3):c.139C>T (p.Arg47Cys)	AKR1C3 (R47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107823	NM_003739.6(AKR1C3):c.194T>G (p.Ile65Ser)	AKR1C3 (I65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783568	NM_003739.6(AKR1C3):c.197G>A (p.Arg66Gln)	AKR1C3 (R66Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2215345	NM_003739.6(AKR1C3):c.221T>C (p.Val74Ala)	AKR1C3 (V74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346900	NM_003739.6(AKR1C3):c.269A>G (p.His90Arg)	AKR1C3 (H90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320617	NM_003739.6(AKR1C3):c.321A>T (p.Gln107His)	AKR1C3 (Q107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282707	NM_003739.6(AKR1C3):c.350A>G (p.His117Arg)	AKR1C3 (H117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288200	NM_003739.6(AKR1C3):c.425T>G (p.Val142Gly)	AKR1C3 (V142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731234	NM_003739.6(AKR1C3):c.434G>A (p.Cys145Tyr)	AKR1C3 (C145Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3107837	NM_003739.6(AKR1C3):c.449C>T (p.Ala150Val)	AKR1C3 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779103	NM_003739.6(AKR1C3):c.459G>A (p.Lys153=)	AKR1C3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2333889	NM_003739.6(AKR1C3):c.501C>G (p.Asn167Lys)	AKR1C3 (N167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784082	NM_003739.6(AKR1C3):c.568C>T (p.Gln190Ter)	AKR1C3 (Q190*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 716665	NM_003739.6(AKR1C3):c.584C>T (p.Pro195Leu)	AKR1C3 (P195L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771431	NM_003739.6(AKR1C3):c.596G>A (p.Arg199Gln)	AKR1C3 (R199Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2616980	NM_003739.6(AKR1C3):c.601A>G (p.Lys201Glu)	AKR1C3 (K201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554028	NM_003739.6(AKR1C3):c.632T>G (p.Ile211Ser)	AKR1C3 (I211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 132790	NM_003739.6(AKR1C3):c.643G>A (p.Ala215Thr)	AKR1C3 (A215T)	Single nucleotide variant (missense variant)	Hypotension	Gnot provided
Select item 2481674	NM_003739.6(AKR1C3):c.681G>T (p.Trp227Cys)	AKR1C3 (W227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107847	NM_003739.6(AKR1C3):c.731T>G (p.Leu244Trp)	AKR1C3 (L244W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107853	NM_003739.6(AKR1C3):c.748C>G (p.Arg250Gly)	AKR1C3 (R250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282689	NM_003739.6(AKR1C3):c.758C>T (p.Ala253Val)	AKR1C3 (A253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107856	NM_003739.6(AKR1C3):c.812G>A (p.Ser271Asn)	AKR1C3 (S271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454630	NM_003739.6(AKR1C3):c.818A>G (p.Asn273Ser)	AKR1C3 (N273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317881	NM_003739.6(AKR1C3):c.826C>T (p.Arg276Cys)	AKR1C3 (R276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107864	NM_003739.6(AKR1C3):c.829A>G (p.Ile277Val)	AKR1C3 (I277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305878	NM_003739.6(AKR1C3):c.845A>C (p.Gln282Pro)	AKR1C3 (Q282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383137	NM_003739.6(AKR1C3):c.902G>C (p.Arg301Thr)	AKR1C3 (R301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555933	NM_003739.6(AKR1C3):c.928A>T (p.Ser310Cys)	AKR1C3 (S310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 1808010	GRCh37/hg19 10p15.1(chr10:4558510-5203154)x4	AKR1C1, AKR1C2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 815315	GRCh37/hg19 10p15.1(chr10:4893720-5273767)x1	AKR1C3, AKR1C4 +2 more	Copy number loss	not provided	GLikely benign
Select item 815313	GRCh37/hg19 10p15.1(chr10:4504067-5395279)x3	AKR1C4, AKR1C1 +3 more	Copy number gain	not provided	GLikely benign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 684954	GRCh37/hg19 10p15.1(chr10:5056553-5174423)x1	AKR1C2, AKR1C3	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic
Select item 202235	GRCh37/hg19 10p15.3-15.1(chr10:138878-5160945)x3	IDI2, KLF6 +13 more	Copy number gain	See cases	GPathogenic

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Items: 72