AKR1C1[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 2568542	NM_001353.6(AKR1C1):c.8C>T (p.Ser3Leu)	AKR1C1 (S3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486910	NM_001353.6(AKR1C1):c.74C>T (p.Ala25Val)	AKR1C1 (A25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217801	NM_001353.6(AKR1C1):c.76C>T (p.Pro26Ser)	AKR1C1 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107683	NM_001353.6(AKR1C1):c.110C>G (p.Ala37Gly)	AKR1C1 (A37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284513	NM_001353.6(AKR1C1):c.119T>G (p.Leu40Trp)	AKR1C1 (L40W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282655	NM_001353.6(AKR1C1):c.127G>A (p.Glu43Lys)	AKR1C1 (E43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369335	NM_001353.6(AKR1C1):c.128A>T (p.Glu43Val)	AKR1C1 (E43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282665	NM_001353.6(AKR1C1):c.142C>T (p.His48Tyr)	AKR1C1 (H48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284493	NM_001353.6(AKR1C1):c.162A>T (p.Leu54Phe)	AKR1C1 (L54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481363	NM_001353.6(AKR1C1):c.272G>C (p.Arg91Pro)	AKR1C1 (R91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555771	NM_001353.6(AKR1C1):c.275C>G (p.Pro92Arg)	AKR1C1 (P92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784081	NM_001353.6(AKR1C1):c.322T>C (p.Leu108=)	AKR1C1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3107708	NM_001353.6(AKR1C1):c.350A>C (p.His117Pro)	AKR1C1 (H117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768347	NM_001353.6(AKR1C1):c.441A>G (p.Thr147=)	AKR1C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522473	NM_001353.6(AKR1C1):c.506A>G (p.Asn169Ser)	AKR1C1 (N169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459070	NM_001353.6(AKR1C1):c.508C>T (p.Arg170Cys)	AKR1C1 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372578	NM_001353.6(AKR1C1):c.586T>C (p.Tyr196His)	AKR1C1 (Y196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315813	NM_001353.6(AKR1C1):c.593A>G (p.Asn198Ser)	AKR1C1 (N198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107723	NM_001353.6(AKR1C1):c.616T>G (p.Cys206Gly)	AKR1C1 (C206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515717	NM_001353.6(AKR1C1):c.679T>C (p.Trp227Arg)	AKR1C1 (W227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289742	NM_001353.6(AKR1C1):c.697C>T (p.Pro233Ser)	AKR1C1 (P233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590118	NM_001353.6(AKR1C1):c.718G>T (p.Val240Phe)	AKR1C1 (V240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270640	NM_001353.6(AKR1C1):c.727G>T (p.Ala243Ser)	AKR1C1 (A243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380847	NM_001353.6(AKR1C1):c.749G>A (p.Arg250Gln)	AKR1C1 (R250Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754541	NM_001353.6(AKR1C1):c.750A>C (p.Arg250=)	AKR1C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541467	NM_001353.6(AKR1C1):c.760C>G (p.Leu254Val)	AKR1C1 (L254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107739	NM_001353.6(AKR1C1):c.825G>T (p.Gln275His)	AKR1C1 (Q275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107741	NM_001353.6(AKR1C1):c.827G>T (p.Arg276Leu)	AKR1C1 (R276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770959	NM_001353.6(AKR1C1):c.840C>A (p.Asn280Lys)	AKR1C1 (N280K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3107745	NM_001353.6(AKR1C1):c.944C>T (p.Pro315Leu)	AKR1C1 (P315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282674	NM_001353.6(AKR1C1):c.966A>T (p.Glu322Asp)	AKR1C1 (E322D)	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 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
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 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 393815	GRCh37/hg19 10p15.1(chr10:5005599-5049453)x1	AKR1C1, AKR1C2	Copy number loss	See cases	GLikely benign
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