AKR1C4[gene] and "single gene"[properties] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049791	NM_001818.5(AKR1C4):c.18G>A (p.Gln6=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related disorder	GLikely benign
Select item 1923868	NM_001818.5(AKR1C4):c.19C>T (p.Arg7Cys)	AKR1C4 (R7C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052203	NM_001818.5(AKR1C4):c.42C>G (p.His14Gln)	AKR1C4 (H14Q)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GLikely benign
Select item 2968288	NM_001818.5(AKR1C4):c.52G>A (p.Val18Ile)	AKR1C4 (V18I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30068	NM_001818.5(AKR1C4):c.85-106G>T	AKR1C4	Single nucleotide variant (intron variant)	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	Grisk factor
Select item 3055659	NM_001818.5(AKR1C4):c.85-103C>T	AKR1C4	Single nucleotide variant (intron variant)	AKR1C4-related disorder	GLikely benign
Select item 3034155	NM_001818.5(AKR1C4):c.85-98C>G	AKR1C4	Single nucleotide variant (intron variant)	AKR1C4-related disorder	GLikely benign
Select item 1987836	NM_001818.5(AKR1C4):c.85-11T>G	AKR1C4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229360	NM_001818.5(AKR1C4):c.105A>G (p.Val35=)	AKR1C4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2719175	NM_001818.5(AKR1C4):c.110T>C (p.Val37Ala)	AKR1C4 (V37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036762	NM_001818.5(AKR1C4):c.127G>A (p.Glu43Lys)	AKR1C4 (E43K)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
Select item 2893112	NM_001818.5(AKR1C4):c.140G>A (p.Arg47His)	AKR1C4 (R47H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053467	NM_001818.5(AKR1C4):c.166AAT[1] (p.Asn57del)	AKR1C4 (N57del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 2636044	NM_001818.5(AKR1C4):c.172G>A (p.Glu58Lys)	AKR1C4 (E58K)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
Select item 3054633	NM_001818.5(AKR1C4):c.216C>T (p.Gly72=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related disorder	GLikely benign
Select item 3107875	NM_001818.5(AKR1C4):c.218G>A (p.Ser73Asn)	AKR1C4 (S73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057338	NM_001818.5(AKR1C4):c.227G>C (p.Arg76Thr)	AKR1C4 (R76T)	Single nucleotide variant (missense variant)	AKR1C4-related disorder +1 more	GLikely benign
Select item 2999813	NM_001818.5(AKR1C4):c.252+17G>A	AKR1C4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2222105	NM_001818.5(AKR1C4):c.271C>G (p.Gln91Glu)	AKR1C4 (Q91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107880	NM_001818.5(AKR1C4):c.280A>T (p.Met94Leu)	AKR1C4 (M94L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1973220	NM_001818.5(AKR1C4):c.321A>G (p.Gln107=)	AKR1C4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726551	NM_001818.5(AKR1C4):c.354C>G (p.Phe118Leu)	AKR1C4 (F118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987174	NM_001818.5(AKR1C4):c.370-19G>A	AKR1C4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2891083	NM_001818.5(AKR1C4):c.380C>T (p.Thr127Met)	AKR1C4 (T127M)	Single nucleotide variant (missense variant)	AKR1C4-related disorder +1 more	GUncertain significance
Select item 2634475	NM_001818.5(AKR1C4):c.388C>A (p.Pro130Thr)	AKR1C4 (P130T)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
Select item 2640284	NM_001818.5(AKR1C4):c.404G>C (p.Gly135Ala)	AKR1C4 (G135A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789027	NM_001818.5(AKR1C4):c.404G>A (p.Gly135Glu)	AKR1C4 (G135E)	Single nucleotide variant (missense variant)	AKR1C4-related disorder +1 more	GBenign
Select item 2017865	NM_001818.5(AKR1C4):c.434C>G (p.Ser145Cys)	AKR1C4 (S145C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 132789	NM_001818.5(AKR1C4):c.447+9T>G	AKR1C4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2896435	NM_001818.5(AKR1C4):c.448-5C>T	AKR1C4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764728	NM_001818.5(AKR1C4):c.448-4C>G	AKR1C4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145558	NM_001818.5(AKR1C4):c.467A>T (p.Asp156Val)	AKR1C4 (D156V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2148265	NM_001818.5(AKR1C4):c.490G>A (p.Gly164Arg)	AKR1C4 (G164R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3107889	NM_001818.5(AKR1C4):c.512G>C (p.Arg171Thr)	AKR1C4 (R171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266950	NM_001818.5(AKR1C4):c.523A>G (p.Met175Val)	AKR1C4 (M175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2118098	NM_001818.5(AKR1C4):c.537G>A (p.Lys179=)	AKR1C4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912462	NM_001818.5(AKR1C4):c.542G>T (p.Gly181Val)	AKR1C4 (G181V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2713434	NM_001818.5(AKR1C4):c.544C>G (p.Leu182Val)	AKR1C4 (L182V)	Single nucleotide variant (missense variant)	AKR1C4-related disorder +1 more	GLikely benign
Select item 2735382	NM_001818.5(AKR1C4):c.667C>T (p.Arg223Ter)	AKR1C4 (R223*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3107894	NM_001818.5(AKR1C4):c.670C>T (p.His224Tyr)	AKR1C4 (H224Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640285	NM_001818.5(AKR1C4):c.690A>C (p.Pro230=)	AKR1C4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892644	NM_001818.5(AKR1C4):c.709G>C (p.Glu237Gln)	AKR1C4 (E237Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 779104	NM_001818.5(AKR1C4):c.727G>A (p.Ala243Thr)	AKR1C4 (A243T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2969068	NM_001818.5(AKR1C4):c.728C>G (p.Ala243Gly)	AKR1C4 (A243G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3107900	NM_001818.5(AKR1C4):c.733G>A (p.Ala245Thr)	AKR1C4 (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268991	NM_001818.5(AKR1C4):c.744C>G (p.His248Gln)	AKR1C4 (H248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2119722	NM_001818.5(AKR1C4):c.749A>G (p.Gln250Arg)	AKR1C4 (Q250R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2697670	NM_001818.5(AKR1C4):c.772C>T (p.Arg258Cys)	AKR1C4 (R258C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054357	NM_001818.5(AKR1C4):c.774C>T (p.Arg258=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related disorder	GLikely benign
Select item 2866902	NM_001818.5(AKR1C4):c.788G>A (p.Arg263His)	AKR1C4 (R263H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716750	NM_001818.5(AKR1C4):c.822G>T (p.Glu274Asp)	AKR1C4 (E274D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603849	NM_001818.5(AKR1C4):c.826C>T (p.Arg276Trp)	AKR1C4 (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2032577	NM_001818.5(AKR1C4):c.828G>C (p.Arg276=)	AKR1C4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296364	NM_001818.5(AKR1C4):c.834A>T (p.Arg278Ser)	AKR1C4 (R278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2918145	NM_001818.5(AKR1C4):c.846+5G>C	AKR1C4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3029605	NM_001818.5(AKR1C4):c.847-8T>C	AKR1C4	Single nucleotide variant (intron variant)	AKR1C4-related disorder	GLikely benign
Select item 762297	NM_001818.5(AKR1C4):c.891T>C (p.Asp297=)	AKR1C4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107914	NM_001818.5(AKR1C4):c.917T>C (p.Val306Ala)	AKR1C4 (V306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107919	NM_001818.5(AKR1C4):c.923T>C (p.Met308Thr)	AKR1C4 (M308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051883	NM_001818.5(AKR1C4):c.923T>A (p.Met308Lys)	AKR1C4 (M308K)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
Select item 2891070	NM_001818.5(AKR1C4):c.929+5del	AKR1C4	Deletion (intron variant)	not provided	GUncertain significance
Select item 2017866	NM_001818.5(AKR1C4):c.931C>G (p.Leu311Val)	AKR1C4 (L311V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3031442	NM_001818.5(AKR1C4):c.939C>T (p.Asp313=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related disorder	GLikely benign
Select item 2244188	NM_001818.5(AKR1C4):c.940C>T (p.His314Tyr)	AKR1C4 (H314Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029678	NM_001818.5(AKR1C4):c.963T>C (p.Asp321=)	AKR1C4	Single nucleotide variant (synonymous variant)	AKR1C4-related disorder	GLikely benign

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Items: 65