3766[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 876289	NM_002241.5(KCNJ10):c.*3919G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293068	NM_002241.5(KCNJ10):c.*3853G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293069	NM_002241.5(KCNJ10):c.*3840T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293070	NM_002241.5(KCNJ10):c.*3770C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 874309	NM_002241.5(KCNJ10):c.*3737A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293071	NM_002241.5(KCNJ10):c.*3617A>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293072	NM_002241.5(KCNJ10):c.*3506C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 875236	NM_002241.5(KCNJ10):c.*3458G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875237	NM_002241.5(KCNJ10):c.*3250G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 293073	NM_002241.5(KCNJ10):c.*3180G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293074	NM_002241.5(KCNJ10):c.*3170G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876200	NM_002241.5(KCNJ10):c.*3158C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876201	NM_002241.5(KCNJ10):c.*3130C>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293075	NM_002241.5(KCNJ10):c.*3104T>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293076	NM_002241.5(KCNJ10):c.*3074C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293077	NM_002241.5(KCNJ10):c.*3023T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293078	NM_002241.5(KCNJ10):c.*2971G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876336	NM_002241.5(KCNJ10):c.*2896T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293079	NM_002241.5(KCNJ10):c.*2827C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 1343013	NM_002241.5(KCNJ10):c.*2803T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 874369	NM_002241.5(KCNJ10):c.*2754G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293080	NM_002241.5(KCNJ10):c.2675_2676del	KCNJ10	Deletion (3 prime UTR variant)	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome +2 more	GUncertain significance
Select item 293081	NM_002241.5(KCNJ10):c.*2649G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 874370	NM_002241.5(KCNJ10):c.*2624G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293082	NM_002241.5(KCNJ10):c.*2596A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875290	NM_002241.5(KCNJ10):c.*2554G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293083	NM_002241.5(KCNJ10):c.*2530G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome +2 more	GUncertain significance
Select item 293084	NM_002241.5(KCNJ10):c.*2520C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875291	NM_002241.5(KCNJ10):c.*2516C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293085	NM_002241.5(KCNJ10):c.*2490G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293086	NM_002241.5(KCNJ10):c.*2479G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293087	NM_002241.5(KCNJ10):c.*2459T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Pendred syndrome +2 more	GUncertain significance
Select item 876253	NM_002241.5(KCNJ10):c.*2406T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293088	NM_002241.5(KCNJ10):c.*2394T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293089	NM_002241.5(KCNJ10):c.*2373C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876371	NM_002241.5(KCNJ10):c.*2242T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +2 more	GConflicting classifications of pathogenicity
Select item 876372	NM_002241.5(KCNJ10):c.*2148A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293090	NM_002241.5(KCNJ10):c.*2062T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 293091	NM_002241.5(KCNJ10):c.*2040C>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 874420	NM_002241.5(KCNJ10):c.*2034C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1267761	NM_002241.5(KCNJ10):c.*1970GT[26]	KCNJ10	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 293093	NM_002241.5(KCNJ10):c.*1970GT[28]	KCNJ10	Microsatellite (3 prime UTR variant)	Pendred syndrome +2 more	GUncertain significance
Select item 293092	NM_002241.5(KCNJ10):c.*1970GT[27]	KCNJ10	Microsatellite (3 prime UTR variant)	Pendred syndrome +2 more	GUncertain significance
Select item 1263013	NM_002241.5(KCNJ10):c.*1970GT[18]	KCNJ10	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 293097	NM_002241.5(KCNJ10):c.*1970GT[22]	KCNJ10	Microsatellite (3 prime UTR variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 293096	NM_002241.5(KCNJ10):c.*1970GT[21]	KCNJ10	Microsatellite (3 prime UTR variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 293095	NM_002241.5(KCNJ10):c.*1970GT[23]	KCNJ10	Microsatellite (3 prime UTR variant)	Pendred syndrome +3 more	GBenign/Likely benign
Select item 293094	NM_002241.5(KCNJ10):c.*1970GT[24]	KCNJ10	Microsatellite (3 prime UTR variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 874421	NM_002241.5(KCNJ10):c.*2001T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293098	NM_002241.5(KCNJ10):c.*1855T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293099	NM_002241.5(KCNJ10):c.*1839C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GConflicting classifications of pathogenicity
Select item 293100	NM_002241.5(KCNJ10):c.*1827T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 875331	NM_002241.5(KCNJ10):c.*1813C>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 875332	NM_002241.5(KCNJ10):c.*1809C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875333	NM_002241.5(KCNJ10):c.*1789G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293101	NM_002241.5(KCNJ10):c.*1788C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293102	NM_002241.5(KCNJ10):c.*1764T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GBenign
Select item 293103	NM_002241.5(KCNJ10):c.*1653T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876412	NM_002241.5(KCNJ10):c.*1498T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 293104	NM_002241.5(KCNJ10):c.*1435C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876413	NM_002241.5(KCNJ10):c.*1430C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 876414	NM_002241.5(KCNJ10):c.*1368C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 874464	NM_002241.5(KCNJ10):c.*1258G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293105	NM_002241.5(KCNJ10):c.*1165G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293106	NM_002241.5(KCNJ10):c.*1161T>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874465	NM_002241.5(KCNJ10):c.*1048A>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 874513	NM_002241.5(KCNJ10):c.*1032G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 874514	NM_002241.5(KCNJ10):c.*1027C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GBenign/Likely benign
Select item 293107	NM_002241.5(KCNJ10):c.*991A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 874515	NM_002241.5(KCNJ10):c.*868C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 875442	NM_002241.5(KCNJ10):c.*793C>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 293108	NM_002241.5(KCNJ10):c.*783A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Mixed +2 more	GUncertain significance
Select item 293109	NM_002241.5(KCNJ10):c.*734C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293110	NM_002241.5(KCNJ10):c.*729G>C	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293111	NM_002241.5(KCNJ10):c.*680T>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876466	NM_002241.5(KCNJ10):c.*413G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 293112	NM_002241.5(KCNJ10):c.*362A>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 876467	NM_002241.5(KCNJ10):c.*347C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 876468	NM_002241.5(KCNJ10):c.*266T>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293113	NM_002241.5(KCNJ10):c.*237A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293114	NM_002241.5(KCNJ10):c.*171C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 1191627	NM_002241.5(KCNJ10):c.*137G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 873572	NM_002241.5(KCNJ10):c.*93C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GBenign/Likely benign
Select item 873573	NM_002241.5(KCNJ10):c.*89C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GBenign/Likely benign
Select item 293115	NM_002241.5(KCNJ10):c.*73C>T	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 293116	NM_002241.5(KCNJ10):c.*52G>A	KCNJ10	Single nucleotide variant (3 prime UTR variant)	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome +2 more	GUncertain significance
Select item 293117	NM_002241.5(KCNJ10):c.*21A>G	KCNJ10	Single nucleotide variant (3 prime UTR variant)	EAST syndrome +1 more	GUncertain significance
Select item 856585	NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys)	KCNJ10	Single nucleotide variant (stop lost)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 378003	NM_002241.5(KCNJ10):c.1137C>G (p.Val379=)	KCNJ10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 1670564	NM_002241.5(KCNJ10):c.1134T>C (p.Asn378=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1439516	NM_002241.5(KCNJ10):c.1132A>T (p.Asn378Tyr)	KCNJ10 (N378Y)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 411157	NM_002241.5(KCNJ10):c.1124G>A (p.Arg375His)	KCNJ10 (R375H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 293118	NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys)	KCNJ10 (R375C)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 2168105	NM_002241.5(KCNJ10):c.1112C>T (p.Ala371Val)	KCNJ10 (A371V)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1138226	NM_002241.5(KCNJ10):c.1110T>C (p.Ser370=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1039795	NM_002241.5(KCNJ10):c.1106G>A (p.Gly369Asp)	KCNJ10 (G369D)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1092583	NM_002241.5(KCNJ10):c.1104G>A (p.Glu368=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign

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