387[HGNC] - ClinVar - NCBI

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	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 148178	GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3	AKR1C1, AKR1C2 +52 more	Copy number gain	See cases	GUncertain significance
Select item 152194	GRCh38/hg38 10p15.1(chr10:5161663-5599060)x1	AKR1C4, AKR1C8 +27 more	Copy number loss	See cases	GLikely benign
Select item 3354713	NM_001818.5(AKR1C4):c.-15AAG[1]	AKR1C4	Microsatellite (5 prime UTR variant)	AKR1C4-related disorder	GLikely benign
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 3351407	NM_001818.5(AKR1C4):c.48G>A (p.Met16Ile)	AKR1C4 (M16I)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
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 3354264	NM_001818.5(AKR1C4):c.85-110_85-108del	AKR1C4	Microsatellite (intron variant)	AKR1C4-related disorder	GLikely benign
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 3352524	NM_001818.5(AKR1C4):c.113C>T (p.Thr38Ile)	AKR1C4 (T38I)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	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	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 3350455	NM_001818.5(AKR1C4):c.193A>G (p.Ile65Val)	AKR1C4 (I65V)	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)	not provided	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 3354790	NM_001818.5(AKR1C4):c.281T>C (p.Met94Thr)	AKR1C4 (M94T)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
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)	not provided	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)	not provided	GBenign
Select item 3356703	NM_001818.5(AKR1C4):c.420C>A (p.Asp140Glu)	AKR1C4 (D140E)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
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 specified +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)	not provided	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 3282728	NM_001818.5(AKR1C4):c.679T>C (p.Trp227Arg)	AKR1C4 (W227R)	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	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 3353338	NM_001818.5(AKR1C4):c.764T>C (p.Ile255Thr)	AKR1C4 (I255T)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	GUncertain significance
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 3352041	NM_001818.5(AKR1C4):c.773G>A (p.Arg258His)	AKR1C4 (R258H)	Single nucleotide variant (missense variant)	AKR1C4-related disorder	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 3282717	NM_001818.5(AKR1C4):c.916G>A (p.Val306Ile)	AKR1C4 (V306I)	Single nucleotide variant (missense variant)	not specified	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
Select item 3244965	NC_000010.10:g.(?_5238831)_(5260723_?)dup	AKR1C4	Duplication	not provided	GUncertain significance
Select item 3244964	NC_000010.10:g.(?_5238831)_(5260723_?)del	AKR1C4	Deletion	not provided	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 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

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