1445[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 2714374	NM_001743.6(CALM2):c.441_*4del (p.Ala148fs)	CALM2 (A112fs +2 more)	Deletion (frameshift variant)	Long QT syndrome 1	GUncertain significance
Select item 1740667	NM_001743.6(CALM2):c.444A>G (p.Ala148=)	CALM2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 576319	NM_001743.6(CALM2):c.434T>G (p.Met145Arg)	CALM2 (M109R +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 1121205	NM_001743.6(CALM2):c.429A>G (p.Val143=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1467722	NM_001743.6(CALM2):c.423G>C (p.Glu141Asp)	CALM2 (E105D +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 415527	NM_001743.6(CALM2):c.422-15CTT[2]	CALM2	Microsatellite (intron variant)	Long QT syndrome 1 +1 more	GLikely benign
Select item 2897948	NM_001743.6(CALM2):c.422-9C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2036970	NM_001743.6(CALM2):c.422-12dup	CALM2	Duplication (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2188743	NM_001743.6(CALM2):c.422-12C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1575279	NM_001743.6(CALM2):c.422-13del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2191629	NM_001743.6(CALM2):c.422-15C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1218759	NM_001743.6(CALM2):c.422-43C>T	CALM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219838	NM_001743.6(CALM2):c.421+146A>G	CALM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674617	NM_001743.6(CALM2):c.421+96_421+97del	CALM2	Deletion (intron variant)	not provided	GBenign
Select item 674616	NM_001743.6(CALM2):c.421+97G>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 15 +1 more	GBenign
Select item 1290819	NM_001743.6(CALM2):c.421+92_421+94dup	CALM2	Duplication (intron variant)	not provided	GBenign
Select item 674615	NM_001743.6(CALM2):c.421+96T>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 15 +1 more	GBenign
Select item 1214286	NM_001743.6(CALM2):c.421+75C>G	CALM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145503	NM_001743.6(CALM2):c.421+19C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 384720	NM_001743.6(CALM2):c.421+18A>G	CALM2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2729491	NM_001743.6(CALM2):c.421+13G>A	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2721251	NM_001743.6(CALM2):c.421+11C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 458194	NM_001743.6(CALM2):c.421+10T>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1 +1 more	GLikely benign
Select item 2703155	NM_001743.6(CALM2):c.421+8T>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2785081	NM_001743.6(CALM2):c.421+4A>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 1043752	NM_001743.6(CALM2):c.421+3A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 1304927	NM_001743.6(CALM2):c.420A>G (p.Glu140=)	CALM2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1606364	NM_001743.6(CALM2):c.417T>C (p.Tyr139=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1002939	NM_001743.6(CALM2):c.413_416dup (p.Tyr139Ter)	CALM2 (Y103* +2 more)	Duplication (nonsense)	Long QT syndrome 1	GUncertain significance
Select item 650245	NM_001743.6(CALM2):c.414C>A (p.Asn138Lys)	CALM2 (N102K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 488476	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	CALM2 (N102K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15	GPathogenic
Select item 2129105	NM_001743.6(CALM2):c.411A>G (p.Val137=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 96724	NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)	CALM2 (Q136P +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 448971	NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)	CALM2 (D134N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 96723	NM_001743.6(CALM2):c.400G>C (p.Asp134His)	CALM2 (D134H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1067140	NM_001743.6(CALM2):c.397G>A (p.Gly133Ser)	CALM2 (G133S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 96722	NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	CALM2 (D132E +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15	GPathogenic
Select item 955533	NM_001743.6(CALM2):c.395A>G (p.Asp132Gly)	CALM2 (D132G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 1456260	NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr)	CALM2 (D180Y +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 812710	NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)	CALM2 (D130G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 1398892	NM_001743.6(CALM2):c.388G>A (p.Asp130Asn)	CALM2 (D130N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 650556	NM_001743.6(CALM2):c.379A>G (p.Arg127Gly)	CALM2 (R91G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2802064	NM_001743.6(CALM2):c.359AAG[1] (p.Glu121del)	CALM2 (E121del +2 more)	Microsatellite (inframe_deletion)	Long QT syndrome 1	GUncertain significance
Select item 2482903	NM_001743.6(CALM2):c.350T>C (p.Leu117Ser)	CALM2 (L117S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 458192	NM_001743.6(CALM2):c.348G>A (p.Lys116=)	CALM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2710832	NM_001743.6(CALM2):c.342A>C (p.Gly114=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1327459	NM_001743.6(CALM2):c.340G>A (p.Gly114Arg)	CALM2 (G114R +2 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GPathogenic
Select item 1136043	NM_001743.6(CALM2):c.336C>T (p.Asn112=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +1 more	GLikely benign
Select item 458191	NM_001743.6(CALM2):c.328A>T (p.Met110Leu)	CALM2 (M110L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 956093	NM_001743.6(CALM2):c.319C>T (p.Arg107Cys)	CALM2 (R107C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3262982	NM_001743.6(CALM2):c.315A>G (p.Glu105=)	CALM2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2500174	NM_001743.6(CALM2):c.313G>C (p.Glu105Gln)	CALM2 (E105Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 15	GLikely pathogenic
Select item 1727839	NM_001743.6(CALM2):c.311C>T (p.Ala104Val)	CALM2 (A104V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2697885	NM_001743.6(CALM2):c.310G>A (p.Ala104Thr)	CALM2 (A68T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2871265	NM_001743.6(CALM2):c.308C>T (p.Ala103Val)	CALM2 (A103V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2768970	NM_001743.6(CALM2):c.307G>A (p.Ala103Thr)	CALM2 (A67T +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 1408944	NM_001743.6(CALM2):c.299A>G (p.Tyr100Cys)	CALM2 (Y148C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 96721	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	CALM2 (N98I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 96720	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	CALM2 (N98S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic
Select item 2894830	NM_001743.6(CALM2):c.291C>T (p.Gly97=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 183233	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	CALM2 (D96V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GPathogenic
Select item 641544	NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)	CALM2 (D144Y +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 2903652	NM_001743.6(CALM2):c.286-6del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GBenign
Select item 576394	NM_001743.6(CALM2):c.286-10T>A	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2737743	NM_001743.6(CALM2):c.286-13A>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2742234	NM_001743.6(CALM2):c.286-14A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1916943	NM_001743.6(CALM2):c.286-14A>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 422684	NM_001743.6(CALM2):c.286-18_286-17del	CALM2	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2918477	NM_001743.6(CALM2):c.286-19A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1245785	NM_001743.6(CALM2):c.285+83T>G	CALM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1649906	NM_001743.6(CALM2):c.285+14_285+20del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GLikely benign
Select item 668517	NM_001743.6(CALM2):c.285+19A>C	CALM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175885	NM_001743.6(CALM2):c.285+17A>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 507565	NM_001743.6(CALM2):c.285+16G>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1 +1 more	GLikely benign
Select item 390826	NM_001743.6(CALM2):c.285+16G>C	CALM2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2154500	NM_001743.6(CALM2):c.285+9A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 946744	NM_001743.6(CALM2):c.285+5G>A	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1 +1 more	GUncertain significance
Select item 2891837	NM_001743.6(CALM2):c.285+3A>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 3061097	NM_001743.6(CALM2):c.272G>T (p.Arg91Leu)	CALM2 (R139L +2 more)	Single nucleotide variant (missense variant)	CALM2-related disorder	GUncertain significance
Select item 2734184	NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)	CALM2 (F138L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GLikely pathogenic
Select item 1126088	NM_001743.6(CALM2):c.261A>G (p.Arg87=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2836055	NM_001743.6(CALM2):c.249A>G (p.Glu83=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 3262983	NM_001743.6(CALM2):c.248A>G (p.Glu83Gly)	CALM2 (E131G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 854156	NM_001743.6(CALM2):c.247G>A (p.Glu83Lys)	CALM2 (E83K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 239033	NM_001743.6(CALM2):c.243C>T (p.Asp81=)	CALM2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 239038	NM_001743.6(CALM2):c.240A>T (p.Thr80=)	CALM2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 2303554	NM_001743.6(CALM2):c.214A>G (p.Met72Val)	CALM2 (M120V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1785020	NM_001743.6(CALM2):c.204A>G (p.Glu68=)	CALM2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1035607	NM_001743.6(CALM2):c.203A>C (p.Glu68Ala)	CALM2 (E116A +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 1598403	NM_001743.6(CALM2):c.186C>A (p.Gly62=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1353411	NM_001743.6(CALM2):c.182A>G (p.Asn61Ser)	CALM2 (N25S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 458190	NM_001743.6(CALM2):c.179-8C>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 507892	NM_001743.6(CALM2):c.179-9C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1 +1 more	GLikely benign

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