6294[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
Select item 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1201132	NC_000011.10:g.2444714C>G	KCNQ1	Single nucleotide variant	not provided	GLikely benign
Select item 1225723	NC_000011.10:g.2444990del	LOC130005142, KCNQ1	Deletion	not provided	GBenign
Select item 1227723	NC_000011.10:g.2444986C>A	KCNQ1, LOC130005142	Single nucleotide variant	not provided	GBenign
Select item 304212	NM_000218.3(KCNQ1):c.-69G>A	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Short QT syndrome type 2 +5 more	GUncertain significance
Select item 877952	NM_000218.3(KCNQ1):c.-55G>C	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Short QT syndrome type 2 +3 more	GUncertain significance
Select item 304213	NM_000218.3(KCNQ1):c.-38C>T	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Short QT syndrome type 2 +5 more	GConflicting classifications of pathogenicity
Select item 506583	NM_000218.3(KCNQ1):c.-24del	KCNQ1	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 138009	NM_000218.3(KCNQ1):c.-5T>C	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1744688	NM_000218.3(KCNQ1):c.-4C>A	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 1736911	NM_000218.3(KCNQ1):c.-3G>C	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 1736906	NM_000218.3(KCNQ1):c.-3G>A	KCNQ1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 220309	NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu)	KCNQ1 (M1L)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GPathogenic
Select item 67064	NM_000218.3(KCNQ1):c.1A>G (p.Met1Val)	KCNQ1 (M1V)	Single nucleotide variant (missense variant +1 more)	Congenital long QT syndrome	Gnot provided
Select item 488859	NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys)	KCNQ1 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 53033	NM_000218.3(KCNQ1):c.2T>C (p.Met1Thr)	KCNQ1 (M1T)	Single nucleotide variant (missense variant +1 more)	Congenital long QT syndrome	Gnot provided
Select item 1050694	NM_000218.3(KCNQ1):c.4G>A (p.Ala2Thr)	KCNQ1 (A2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431053	NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)	KCNQ1	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 67091	NM_000218.3(KCNQ1):c.5C>T (p.Ala2Val)	KCNQ1 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996502	NM_000218.3(KCNQ1):c.7G>C (p.Ala3Pro)	KCNQ1 (A3P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 200866	NM_000218.3(KCNQ1):c.8C>G (p.Ala3Gly)	KCNQ1 (A3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641362	NM_000218.3(KCNQ1):c.9G>A (p.Ala3=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855134	NM_000218.3(KCNQ1):c.15C>T (p.Ser5=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 523933	NM_000218.3(KCNQ1):c.20del (p.Pro7fs)	KCNQ1 (P7fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 53028	NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)	KCNQ1 (P7S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2415646	NM_000218.3(KCNQ1):c.21G>A (p.Pro7=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2178080	NM_000218.3(KCNQ1):c.21G>C (p.Pro7=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 979113	NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr)	KCNQ1 (R9T)	Single nucleotide variant (missense variant)	Jervell and Lange-Nielsen syndrome 1 +1 more	GUncertain significance
Select item 2889396	NM_000218.3(KCNQ1):c.28G>A (p.Ala10Thr)	KCNQ1 (A10T)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 304214	NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp)	KCNQ1 (A10D)	Single nucleotide variant (missense variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 1727606	NM_000218.3(KCNQ1):c.30C>G (p.Ala10=)	KCNQ1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 418271	NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys)	KCNQ1 (E11K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2710421	NM_000218.3(KCNQ1):c.32A>G (p.Glu11Gly)	KCNQ1 (E11G)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2188384	NM_000218.3(KCNQ1):c.36G>A (p.Arg12=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 200867	NM_000218.3(KCNQ1):c.37A>T (p.Lys13Ter)	KCNQ1 (K13*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 405256	NM_000218.3(KCNQ1):c.38A>G (p.Lys13Arg)	KCNQ1 (K13R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 67071	NM_000218.3(KCNQ1):c.40C>T (p.Arg14Cys)	KCNQ1 (R14C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 804969	NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu)	KCNQ1 (R14L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1346261	NM_000218.3(KCNQ1):c.45G>T (p.Trp15Cys)	KCNQ1 (W15C)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2744490	NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs)	KCNQ1 (G16fs)	Deletion (frameshift variant +1 more)	Long QT syndrome	GPathogenic
Select item 663623	NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)	KCNQ1 (W17*)	Single nucleotide variant (nonsense)	Long QT syndrome	GPathogenic
Select item 1489122	NM_000218.3(KCNQ1):c.62C>T (p.Pro21Leu)	KCNQ1 (P21L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2420527	NM_000218.3(KCNQ1):c.64G>T (p.Gly22Cys)	KCNQ1 (G22C)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 200868	NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg)	KCNQ1 (G22R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2778286	NM_000218.3(KCNQ1):c.66C>A (p.Gly22=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 304215	NM_000218.3(KCNQ1):c.66C>T (p.Gly22=)	KCNQ1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GUncertain significance
Select item 2114142	NM_000218.3(KCNQ1):c.68C>T (p.Ala23Val)	KCNQ1 (A23V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 946105	NM_000218.3(KCNQ1):c.70C>T (p.Arg24Trp)	KCNQ1 (R24W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 684795	NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro)	KCNQ1 (R25P)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 200869	NM_000218.3(KCNQ1):c.81C>A (p.Ser27Arg)	KCNQ1 (S27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036317	NM_000218.3(KCNQ1):c.83C>G (p.Ala28Gly)	KCNQ1 (A28G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2078307	NM_000218.3(KCNQ1):c.85G>A (p.Gly29Ser)	KCNQ1 (G29S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2567548	NM_000218.3(KCNQ1):c.86G>T (p.Gly29Val)	KCNQ1 (G29V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1436092	NM_000218.3(KCNQ1):c.89T>C (p.Leu30Pro)	KCNQ1 (L30P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 523769	NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter)	KCNQ1 (K32*)	Single nucleotide variant (nonsense)	Long QT syndrome +1 more	GPathogenic
Select item 1949190	NM_000218.3(KCNQ1):c.99G>A (p.Lys33=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2899907	NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter)	KCNQ1 (C34*)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome	GPathogenic
Select item 2882834	NM_000218.3(KCNQ1):c.104C>G (p.Pro35Arg)	KCNQ1 (P35R)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 840373	NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu)	KCNQ1 (P35L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2096824	NM_000218.3(KCNQ1):c.105C>T (p.Pro35=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1786030	NM_000218.3(KCNQ1):c.107dup (p.Ser37fs)	KCNQ1 (S37fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 378010	NM_000218.3(KCNQ1):c.105C>A (p.Pro35=)	KCNQ1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1582564	NM_000218.3(KCNQ1):c.111G>C (p.Ser37=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1096018	NM_000218.3(KCNQ1):c.114G>C (p.Leu38=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 573804	NM_000218.3(KCNQ1):c.114G>A (p.Leu38=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 375455	NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)	KCNQ1 (E39*)	Single nucleotide variant (nonsense)	Jervell and Lange-Nielsen syndrome 1	GPathogenic
Select item 704518	NM_000218.3(KCNQ1):c.123G>A (p.Ala41=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 488698	NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter)	KCNQ1 (E42*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 378894	NM_000218.3(KCNQ1):c.129C>T (p.Gly43=)	KCNQ1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2960022	NM_000218.3(KCNQ1):c.130G>A (p.Gly44Ser)	KCNQ1 (G44S)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2691632	NM_000218.3(KCNQ1):c.130G>C (p.Gly44Arg)	KCNQ1 (G44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2021762	NM_000218.3(KCNQ1):c.136_147dup (p.Ala49_Leu50insAlaGlyGlyAla)	KCNQ1	Duplication (inframe_insertion +1 more)	Long QT syndrome	GUncertain significance
Select item 420658	NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs)	KCNQ1 (A49fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3006889	NM_000218.3(KCNQ1):c.134C>T (p.Pro45Leu)	KCNQ1 (P45L)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1312976	NM_000218.3(KCNQ1):c.134C>G (p.Pro45Arg)	KCNQ1 (P45R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2883115	NM_000218.3(KCNQ1):c.135G>A (p.Pro45=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2832303	NM_000218.3(KCNQ1):c.135G>C (p.Pro45=)	KCNQ1	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 52982	NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr)	KCNQ1 (A46T)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 1444496	NM_000218.3(KCNQ1):c.137C>A (p.Ala46Glu)	KCNQ1 (A46E)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 413283	NM_000218.3(KCNQ1):c.144C>G (p.Gly48=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1666446	NM_000218.3(KCNQ1):c.147G>T (p.Ala49=)	KCNQ1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 52987	NM_000218.3(KCNQ1):c.151dup (p.Tyr51fs)	KCNQ1 (Y51fs)	Duplication (frameshift variant)	Long QT syndrome 1	Gnot provided
Select item 1777892	NM_000218.3(KCNQ1):c.160ATCGCGCCC[3] (p.Pro56_Gly57insIleAlaProIleAlaPro)	KCNQ1	Microsatellite (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774582	NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys)	KCNQ1 (Y51C)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 42487	NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)	KCNQ1	Duplication (inframe_insertion)	KCNQ1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 933168	NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter)	KCNQ1 (Y51*)	Single nucleotide variant (nonsense)	Cardiac arrhythmia +1 more	GPathogenic
Select item 52989	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	KCNQ1 (Y51*)	Single nucleotide variant (nonsense)	Cardiac arrhythmia +3 more	GPathogenic
Select item 1072801	NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs)	KCNQ1 (I54fs)	Deletion (frameshift variant)	Long QT syndrome	GPathogenic

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