KCNU1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +286 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	LOC126860374, LOC126860375 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 2554484	NM_001031836.3(KCNU1):c.68T>A (p.Ile23Asn)	KCNU1 (I23N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508247	NM_001031836.3(KCNU1):c.106T>C (p.Phe36Leu)	KCNU1 (F36L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514514	NM_001031836.3(KCNU1):c.231T>A (p.His77Gln)	KCNU1 (H77Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406890	NM_001031836.3(KCNU1):c.323T>C (p.Leu108Pro)	KCNU1 (L108P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369723	NM_001031836.3(KCNU1):c.371C>T (p.Ser124Phe)	KCNU1 (S124F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595680	NM_001031836.3(KCNU1):c.520G>A (p.Val174Ile)	KCNU1 (V174I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260543	NM_001031836.3(KCNU1):c.644C>T (p.Ala215Val)	KCNU1 (A215V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275894	NM_001031836.3(KCNU1):c.727C>T (p.His243Tyr)	KCNU1 (H243Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223155	NM_001031836.3(KCNU1):c.826A>G (p.Thr276Ala)	KCNU1 (T276A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209866	NM_001031836.3(KCNU1):c.878T>A (p.Ile293Asn)	KCNU1 (I293N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272592	NM_001031836.3(KCNU1):c.884T>C (p.Phe295Ser)	KCNU1 (F295S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395220	NM_001031836.3(KCNU1):c.890C>T (p.Thr297Ile)	KCNU1 (T297I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458428	NM_001031836.3(KCNU1):c.941T>A (p.Leu314Gln)	KCNU1 (L314Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548433	NM_001031836.3(KCNU1):c.946G>A (p.Ala316Thr)	KCNU1 (A316T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776315	NM_001031836.3(KCNU1):c.990A>C (p.Gly330=)	KCNU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2376933	NM_001031836.3(KCNU1):c.1025T>C (p.Val342Ala)	KCNU1 (V342A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570447	NM_001031836.3(KCNU1):c.1060C>T (p.Arg354Cys)	KCNU1 (R354C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367672	NM_001031836.3(KCNU1):c.1063G>A (p.Asp355Asn)	KCNU1 (D355N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589979	NM_001031836.3(KCNU1):c.1211C>T (p.Ala404Val)	KCNU1 (A404V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443714	NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe)	KCNU1	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 79	GPathogenic
Select item 2443716	NM_001031836.3(KCNU1):c.1295+3A>C	KCNU1	Single nucleotide variant (intron variant)	Spermatogenic failure 79	GPathogenic
Select item 2315955	NM_001031836.3(KCNU1):c.1385C>A (p.Pro462His)	KCNU1 (P462H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776316	NM_001031836.3(KCNU1):c.1437A>G (p.Lys479=)	KCNU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2608885	NM_001031836.3(KCNU1):c.1493C>T (p.Ser498Phe)	KCNU1 (S498F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463393	NM_001031836.3(KCNU1):c.1558A>G (p.Ser520Gly)	KCNU1 (S520G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2518259	NM_001031836.3(KCNU1):c.1586G>A (p.Arg529His)	KCNU1 (R529H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2658535	NM_001031836.3(KCNU1):c.1726C>A (p.Pro576Thr)	KCNU1 (P576T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2372535	NM_001031836.3(KCNU1):c.1885A>G (p.Ile629Val)	KCNU1 (I629V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2548983	NM_001031836.3(KCNU1):c.1910T>C (p.Met637Thr)	KCNU1 (M637T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341692	NM_001031836.3(KCNU1):c.1958C>T (p.Ser653Phe)	KCNU1 (S653F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342858	NM_001031836.3(KCNU1):c.1964C>T (p.Pro655Leu)	KCNU1 (P655L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559414	NM_001031836.3(KCNU1):c.1968G>T (p.Arg656Ser)	KCNU1 (R656S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348317	NM_001031836.3(KCNU1):c.1978A>G (p.Ser660Gly)	KCNU1 (S660G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386426	NM_001031836.3(KCNU1):c.2117G>T (p.Gly706Val)	KCNU1 (G706V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443715	NM_001031836.3(KCNU1):c.2144A>G (p.His715Arg)	KCNU1	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 79	GPathogenic
Select item 2316245	NM_001031836.3(KCNU1):c.2147T>C (p.Ile716Thr)	KCNU1 (I716T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2673143	NM_001031836.3(KCNU1):c.2183C>T (p.Pro728Leu)	KCNU1 (P728L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2259939	NM_001031836.3(KCNU1):c.2207T>A (p.Met736Lys)	KCNU1 (M736K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393263	NM_001031836.3(KCNU1):c.2255T>C (p.Val752Ala)	KCNU1 (V752A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205755	NM_001031836.3(KCNU1):c.2355C>A (p.Asp785Glu)	KCNU1 (D785E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400357	NM_001031836.3(KCNU1):c.2408C>G (p.Pro803Arg)	KCNU1 (P803R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306852	NM_001031836.3(KCNU1):c.2408C>T (p.Pro803Leu)	KCNU1 (P803L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776317	NM_001031836.3(KCNU1):c.2522-8C>T	KCNU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2555399	NM_001031836.3(KCNU1):c.2588C>T (p.Thr863Ile)	KCNU1 (T863I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 769339	NM_001031836.3(KCNU1):c.2727G>C (p.Leu909=)	KCNU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 732415	NM_001031836.3(KCNU1):c.2731G>A (p.Ala911Thr)	KCNU1 (A911T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2523745	NM_001031836.3(KCNU1):c.2843C>A (p.Ala948Glu)	KCNU1 (A948E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288274	NM_001031836.3(KCNU1):c.2855C>T (p.Thr952Met)	KCNU1 (T952M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 772902	NM_001031836.3(KCNU1):c.2925C>T (p.Asp975=)	KCNU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2307515	NM_001031836.3(KCNU1):c.2959T>C (p.Cys987Arg)	KCNU1 (C987R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308026	NM_001031836.3(KCNU1):c.3013G>T (p.Asp1005Tyr)	KCNU1 (D1005Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344161	NM_001031836.3(KCNU1):c.3025C>T (p.Leu1009Phe)	KCNU1 (L1009F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2673144	NM_001031836.3(KCNU1):c.3266T>C (p.Val1089Ala)	KCNU1 (V1089A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2336781	NM_001031836.3(KCNU1):c.3356A>G (p.Gln1119Arg)	KCNU1 (Q1119R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519708	NM_001031836.3(KCNU1):c.3364T>A (p.Leu1122Ile)	KCNU1 (L1122I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484215	NM_001031836.3(KCNU1):c.3377C>A (p.Ala1126Glu)	KCNU1 (A1126E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454941	NM_001031836.3(KCNU1):c.3389A>G (p.Glu1130Gly)	KCNU1 (E1130G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3063046	GRCh37/hg19 8p11.23(chr8:36632990-37142600)x3	KCNU1	Copy number gain	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic

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