ClinVar for Gene (Select 805) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3221774	NM_001743.6(CALM2):c.54A>G (p.Ser18=)	CALM2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3221773	NM_001743.6(CALM2):c.-1C>T	CALM2 (A33V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3221772	NM_001743.6(CALM2):c.131C>G (p.Pro44Arg)	CALM2 (P44R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3136743	NM_001743.6(CALM2):c.68A>G (p.Asp23Gly)	CALM2 (D23G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 condition	GUncertain significance
Select item 3054677	NM_001743.6(CALM2):c.4-1666C>T	CALM2 (A44V)	Single nucleotide variant (missense variant +2 more)	CALM2-related condition	GLikely benign
Select item 3043763	NM_001305624.1(CALM2):c.7C>A (p.Arg3Ser)	CALM2 (R3S)	Single nucleotide variant (missense variant +1 more)	CALM2-related condition	GBenign
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 2903652	NM_001743.6(CALM2):c.286-6del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GBenign
Select item 2903536	NM_001743.6(CALM2):c.178+4A>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 2900380	NM_001743.6(CALM2):c.4-19C>A	CALM2	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2900219	NM_001743.6(CALM2):c.4-17C>G	CALM2	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	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 2894830	NM_001743.6(CALM2):c.291C>T (p.Gly97=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
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 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 2836055	NM_001743.6(CALM2):c.249A>G (p.Glu83=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2824731	NM_001743.6(CALM2):c.178+10C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2813326	NM_001743.6(CALM2):c.105T>C (p.Thr35=)	CALM2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GLikely benign
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 2785081	NM_001743.6(CALM2):c.421+4A>C	CALM2	Single nucleotide variant (intron 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 2742234	NM_001743.6(CALM2):c.286-14A>G	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 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 2733510	NM_001743.6(CALM2):c.35-14T>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
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 2724661	NM_001743.6(CALM2):c.3+20G>T	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 2720409	NM_001743.6(CALM2):c.34+5G>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
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 2710832	NM_001743.6(CALM2):c.342A>C (p.Gly114=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	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 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 2696320	NM_001743.6(CALM2):c.16A>T (p.Thr6Ser)	CALM2 (T54S +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 1	GUncertain significance
Select item 2630545	NM_001743.6(CALM2):c.136G>A (p.Glu46Lys)	CALM2 (E10K +2 more)	Single nucleotide variant (missense variant)	CALM2-related condition	GUncertain significance
Select item 2625220	NM_001743.6(CALM2):c.-4C>T	CALM2 (A32V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625219	NM_001743.6(CALM2):c.21A>G (p.Glu7=)	CALM2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2574030	NM_001743.6(CALM2):c.-9G>C	CALM2	Single nucleotide variant (synonymous variant +2 more)	Long QT syndrome	GUncertain significance
Select item 2562909	NM_001743.6(CALM2):c.57A>C (p.Leu19=)	CALM2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 2500009	NM_001743.6(CALM2):c.104C>A (p.Thr35Asn)	CALM2 (T35N +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 15	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 2447909	NM_001743.6(CALM2):c.-2G>C	CALM2 (A33P)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2426558	NC_000002.11:g.(?_47256343)_(47397923_?)dup	CALM2, STPG4 +1 more	Duplication	Multiple gastrointestinal atresias	GUncertain significance
Select item 2424228	NC_000002.11:g.(?_47387915)_(47397923_?)dup	CALM2	Duplication	Long QT syndrome 1	GUncertain significance
Select item 2424227	NC_000002.11:g.(?_47388842)_(47403582_?)dup	CALM2	Duplication	Long QT syndrome 1	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
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 2191629	NM_001743.6(CALM2):c.422-15C>T	CALM2	Single nucleotide variant (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 2177548	NM_001743.6(CALM2):c.34+19G>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	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 2164047	NM_001743.6(CALM2):c.178+7C>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely 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 2154130	NM_001743.6(CALM2):c.3+13C>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	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 2141307	NM_001743.6(CALM2):c.3+18C>G	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2136633	NM_001743.6(CALM2):c.178+17G>A	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
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 2093546	NM_001743.6(CALM2):c.3+17G>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2086798	NM_001743.6(CALM2):c.4-15T>C	CALM2	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2080582	NM_001743.6(CALM2):c.3+9_3+18del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2079422	NM_001743.6(CALM2):c.179-15A>G	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 2030936	NM_001743.6(CALM2):c.178+9T>A	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2026774	NM_001743.6(CALM2):c.123G>C (p.Gly41=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2025116	NM_001743.6(CALM2):c.54A>C (p.Ser18=)	CALM2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GUncertain significance
Select item 2006402	NM_001743.6(CALM2):c.4-5T>C	CALM2	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 1984624	NM_001743.6(CALM2):c.35-12T>C	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 1907729	NM_001743.6(CALM2):c.3+12G>A	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1806166	NM_001305624.1(CALM2):c.8G>A (p.Arg3His)	CALM2 (R3H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 15	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 1769618	NM_001743.6(CALM2):c.130C>T (p.Pro44Ser)	CALM2 (P44S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751012	NM_001743.6(CALM2):c.-5G>C	CALM2 (A32P)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741039	NM_001743.6(CALM2):c.4-4G>A	CALM2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	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 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 1709364	NM_001743.6(CALM2):c.-56G>A	CALM2 (E15K)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome 15	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1684055	NM_001743.6(CALM2):c.35-31G>A	CALM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652583	NM_001743.6(CALM2):c.34+12_34+13delinsCT	CALM2	Indel (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1649906	NM_001743.6(CALM2):c.285+14_285+20del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1647187	NM_001743.6(CALM2):c.34+17T>C	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1618635	NM_001743.6(CALM2):c.178+10del	CALM2	Deletion (intron variant)	Long QT syndrome 1	GLikely benign
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 1598403	NM_001743.6(CALM2):c.186C>A (p.Gly62=)	CALM2	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1585081	NM_001743.6(CALM2):c.178+12A>G	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 1573840	NM_001743.6(CALM2):c.179-15A>T	CALM2	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1548764	NM_001743.6(CALM2):c.4-8dup	CALM2	Duplication (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 1529207	NM_001743.6(CALM2):c.35-15C>G	CALM2	Single nucleotide variant (intron 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 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 1423641	NM_001743.6(CALM2):c.35-10_35-7del	CALM2	Microsatellite (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1410477	NC_000002.11:g.(?_47387915)_(47403582_?)dup	CALM2	Duplication	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 1398892	NM_001743.6(CALM2):c.388G>A (p.Asp130Asn)	CALM2 (D130N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic

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