CALM3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 1220149	NC_000019.10:g.46600969T>C	CALM3, LOC130064759	Single nucleotide variant	not provided	GLikely benign
Select item 1269424	NC_000019.10:g.46601055_46601056del	CALM3, LOC130064759	Deletion	not provided	GBenign
Select item 1179377	NM_005184.3(CALM3):c.-177G>A	CALM3, LOC130064760	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167461	NM_005184.3(CALM3):c.-157T>A	CALM3, LOC130064760	Single nucleotide variant (intron variant)	Long QT syndrome 1 +1 more	GBenign
Select item 510506	NM_005184.4(CALM3):c.-29C>T	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 386525	NM_005184.4(CALM3):c.-14C>A	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 389811	NM_005184.4(CALM3):c.-6C>A	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1736901	NM_005184.4(CALM3):c.-3G>A	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1317121	NM_005184.4(CALM3):c.-3G>T	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1435429	NM_005184.4(CALM3):c.3+11C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1618315	NM_005184.4(CALM3):c.3+18dup	CALM3	Duplication (intron variant)	Long QT syndrome 1	GBenign
Select item 1603471	NM_005184.4(CALM3):c.3+13G>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2195391	NM_005184.4(CALM3):c.3+14G>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2917680	NM_005184.4(CALM3):c.3+17G>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1595700	NM_005184.4(CALM3):c.3+18G>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2883048	NM_005184.4(CALM3):c.3+19T>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1207851	NM_005184.4(CALM3):c.3+85A>C	CALM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200333	NM_005184.4(CALM3):c.4-304G>A	CALM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217462	NM_005184.4(CALM3):c.4-162G>A	CALM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678453	NM_005184.4(CALM3):c.4-73T>C	CALM3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1613002	NM_005184.4(CALM3):c.4-17C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2777764	NM_005184.4(CALM3):c.4-6T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1081600	NM_005184.4(CALM3):c.4-5T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1438531	NM_005184.4(CALM3):c.4-3C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
Select item 1769362	NM_005184.4(CALM3):c.12G>A (p.Gln4=)	CALM3	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1483977	NM_005184.4(CALM3):c.24G>C (p.Glu8Asp)	CALM3 (E8D)	Single nucleotide variant (5 prime UTR variant +2 more)	Long QT syndrome 1	GUncertain significance
Select item 415844	NM_005184.4(CALM3):c.24G>A (p.Glu8=)	CALM3	Single nucleotide variant (5 prime UTR variant +2 more)	Long QT syndrome 1	GLikely benign
Select item 2079052	NM_005184.4(CALM3):c.27G>A (p.Gln9=)	CALM3	Single nucleotide variant (synonymous variant +2 more)	Long QT syndrome 1 +1 more	GLikely benign
Select item 1025522	NM_005184.4(CALM3):c.34+3G>A	CALM3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1592668	NM_005184.4(CALM3):c.34+7C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2973423	NM_005184.4(CALM3):c.34+11T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1275347	NM_005184.4(CALM3):c.34+37G>C	CALM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679088	NM_005184.4(CALM3):c.35-179G>A	CALM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195868	NM_005184.4(CALM3):c.35-146G>A	CALM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416848	NM_005184.4(CALM3):c.35-19C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2799934	NM_005184.4(CALM3):c.35-18T>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2151972	NM_005184.4(CALM3):c.35-18T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2717024	NM_005184.4(CALM3):c.35-14C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1956553	NM_005184.4(CALM3):c.35-14C>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1607665	NM_005184.4(CALM3):c.35-14C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GBenign
Select item 2845331	NM_005184.4(CALM3):c.35-13C>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1208535	NM_005184.4(CALM3):c.35-13C>G	CALM3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 695769	NM_005184.4(CALM3):c.35-10C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2415104	NM_005184.4(CALM3):c.35-9T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1739538	NM_005184.4(CALM3):c.42G>A (p.Lys14=)	CALM3	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 659570	NM_005184.4(CALM3):c.47C>G (p.Ala16Gly)	CALM3 (A16G)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GUncertain significance
Select item 2739471	NM_005184.4(CALM3):c.51C>T (p.Phe17=)	CALM3	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 2913041	NM_005184.4(CALM3):c.57C>A (p.Leu19=)	CALM3	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 1499178	NM_005184.4(CALM3):c.66G>A (p.Lys22=)	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 1650706	NM_005184.4(CALM3):c.72A>G (p.Gly24=)	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 1990569	NM_005184.4(CALM3):c.75T>C (p.Asp25=)	CALM3	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 1760684	NM_005184.4(CALM3):c.77G>A (p.Gly26Asp)	CALM3 (G26D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1988893	NM_005184.4(CALM3):c.81T>C (p.Thr27=)	CALM3	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 509957	NM_005184.4(CALM3):c.97T>C (p.Leu33=)	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2041170	NM_005184.4(CALM3):c.108G>A (p.Val36=)	CALM3	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 1	GLikely benign
Select item 3136744	NM_005184.4(CALM3):c.124C>G (p.Gln42Glu)	CALM3 (Q42E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 654209	NM_005184.4(CALM3):c.131C>T (p.Pro44Leu)	CALM3 (P44L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2915003	NM_005184.4(CALM3):c.132C>T (p.Pro44=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1159890	NM_005184.4(CALM3):c.138A>G (p.Glu46=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 799696	NM_005184.4(CALM3):c.144G>A (p.Glu48=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2738009	NM_005184.4(CALM3):c.147G>A (p.Leu49=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1159955	NM_005184.4(CALM3):c.147G>T (p.Leu49=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2917527	NM_005184.4(CALM3):c.159C>T (p.Ile53=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2827383	NM_005184.4(CALM3):c.159C>A (p.Ile53=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1986997	NM_005184.4(CALM3):c.165G>A (p.Glu55=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +2 more	GLikely benign
Select item 1631833	NM_005184.4(CALM3):c.174A>G (p.Ala58=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1779976	NM_005184.4(CALM3):c.178+3G>A	CALM3	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2197543	NM_005184.4(CALM3):c.178+12A>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 512510	NM_005184.4(CALM3):c.178+17G>A	CALM3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 509263	NM_005184.4(CALM3):c.178+18C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1 +1 more	GBenign/Likely benign
Select item 1562246	NM_005184.4(CALM3):c.178+19G>A	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GBenign
Select item 1205758	NM_005184.4(CALM3):c.178+48G>A	CALM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678454	NM_005184.4(CALM3):c.178+66T>C	CALM3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1661389	NM_005184.4(CALM3):c.179-18C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 422313	NM_005184.4(CALM3):c.179-14del	CALM3	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2144363	NM_005184.4(CALM3):c.179-13C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 839631	NM_005184.4(CALM3):c.179-3del	CALM3	Deletion (intron variant)	Long QT syndrome 16 +1 more	GUncertain significance
Select item 240116	NM_005184.4(CALM3):c.183C>T (p.Asn61=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2415025	NM_005184.4(CALM3):c.192T>A (p.Ile64=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 240117	NM_005184.4(CALM3):c.201G>A (p.Pro67=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 2795402	NM_005184.4(CALM3):c.213C>T (p.Thr71=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1519815	NM_005184.4(CALM3):c.237C>T (p.Asp79=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +1 more	GLikely benign
Select item 1791769	NM_005184.4(CALM3):c.246T>C (p.Ser82=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2661969	NM_005184.4(CALM3):c.247G>A (p.Glu83Lys)	CALM3 (E47K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166599	NM_005184.4(CALM3):c.249G>A (p.Glu83=)	CALM3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1998292	NM_005184.4(CALM3):c.259C>T (p.Arg87Ter)	CALM3 (R87* +1 more)	Single nucleotide variant (nonsense)	Long QT syndrome 1	GUncertain significance
Select item 458195	NM_005184.4(CALM3):c.267G>A (p.Ala89=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +2 more	GBenign/Likely benign
Select item 1097647	NM_005184.4(CALM3):c.273T>A (p.Arg91=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 409871	NM_005184.4(CALM3):c.281A>C (p.Asp94Ala)	CALM3 (D94A +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
Select item 2080492	NM_005184.4(CALM3):c.285+17A>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1602131	NM_005184.4(CALM3):c.286-19C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1155005	NM_005184.4(CALM3):c.286-10C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1151933	NM_005184.4(CALM3):c.286-8dup	CALM3	Duplication (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2156640	NM_005184.4(CALM3):c.286-4C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 409870	NM_005184.4(CALM3):c.286G>C (p.Asp96His)	CALM3 (D96H +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic

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