ClinVar for Gene (Select 808) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3002707	NM_005184.4(CALM3):c.422-7T>C	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 2967941	NM_005184.4(CALM3):c.421+16G>A	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 2917527	NM_005184.4(CALM3):c.159C>T (p.Ile53=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
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 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 2883048	NM_005184.4(CALM3):c.3+19T>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2867732	NM_005184.4(CALM3):c.332C>T (p.Thr111Met)	CALM3 (T111M +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
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 2827383	NM_005184.4(CALM3):c.159C>A (p.Ile53=)	CALM3	Single nucleotide variant (synonymous 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 2795402	NM_005184.4(CALM3):c.213C>T (p.Thr71=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2789948	NM_005184.4(CALM3):c.342G>A (p.Gly114=)	CALM3	Single nucleotide variant (synonymous 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 2772141	NM_005184.4(CALM3):c.363G>A (p.Glu121=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
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 2738009	NM_005184.4(CALM3):c.147G>A (p.Leu49=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 2727891	NM_005184.4(CALM3):c.422-20C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2724342	NM_005184.4(CALM3):c.325G>A (p.Val109Ile)	CALM3 (V109I +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 2721341	NM_005184.4(CALM3):c.393C>T (p.Ile131=)	CALM3	Single nucleotide variant (synonymous 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 2705241	NM_005184.4(CALM3):c.421+18T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	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 2625025	NM_005184.4(CALM3):c.411C>T (p.Val137=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2619146	NM_005184.4(CALM3):c.421+5G>A	CALM3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	CCDC9, DACT3 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
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 2415104	NM_005184.4(CALM3):c.35-9T>C	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	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 2197543	NM_005184.4(CALM3):c.178+12A>G	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 2182759	NM_005184.4(CALM3):c.421+14A>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 2171883	NM_005184.4(CALM3):c.310G>A (p.Ala104Thr)	CALM3 (A104T +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
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 2155102	NM_005184.4(CALM3):c.422-5C>T	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 2147059	NM_005184.4(CALM3):c.421+6T>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GUncertain significance
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 2138308	NM_005184.4(CALM3):c.426T>G (p.Phe142Leu)	CALM3 (F106L +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
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 2079052	NM_005184.4(CALM3):c.27G>A (p.Gln9=)	CALM3	Single nucleotide variant (synonymous variant +2 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 2008215	NM_005184.4(CALM3):c.421+10G>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely 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 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 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 1986997	NM_005184.4(CALM3):c.165G>A (p.Glu55=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +1 more	GLikely benign
Select item 1981654	NM_005184.4(CALM3):c.370G>A (p.Glu124Lys)	CALM3 (E124K +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
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 1791769	NM_005184.4(CALM3):c.246T>C (p.Ser82=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 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 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 1740538	NM_005184.4(CALM3):c.442G>A (p.Ala148Thr)	CALM3 (A112T +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +1 more	GUncertain significance
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 1736901	NM_005184.4(CALM3):c.-3G>A	CALM3	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1735797	NM_005184.4(CALM3):c.387T>A (p.Ala129=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733206	NM_005184.4(CALM3):c.360G>A (p.Glu120=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1732684	NM_005184.4(CALM3):c.355G>A (p.Asp119Asn)	CALM3 (D119N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732560	NM_005184.4(CALM3):c.354C>G (p.Thr118=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1730993	NM_005184.4(CALM3):c.339G>C (p.Leu113=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +1 more	GLikely benign
Select item 1730984	NM_005184.4(CALM3):c.339G>A (p.Leu113=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1730802	NM_005184.4(CALM3):c.337C>T (p.Leu113=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1728652	NM_005184.4(CALM3):c.318G>T (p.Leu106=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +1 more	GLikely benign
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 1650921	NM_005184.4(CALM3):c.333G>C (p.Thr111=)	CALM3	Single nucleotide variant (synonymous variant)	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 1631833	NM_005184.4(CALM3):c.174A>G (p.Ala58=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1625440	NM_005184.4(CALM3):c.447G>A (p.Lys149=)	CALM3	Single nucleotide variant (synonymous 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 1613542	NM_005184.4(CALM3):c.387T>C (p.Ala129=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
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 1607665	NM_005184.4(CALM3):c.35-14C>G	CALM3	Single nucleotide variant (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 1602131	NM_005184.4(CALM3):c.286-19C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1597108	NM_005184.4(CALM3):c.402T>C (p.Asp134=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1 +1 more	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 1592668	NM_005184.4(CALM3):c.34+7C>G	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely 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 1552938	NM_005184.4(CALM3):c.429A>G (p.Val143=)	CALM3	Single nucleotide variant (synonymous variant)	Long QT syndrome 1	GLikely benign
Select item 1538743	NM_005184.4(CALM3):c.422-8C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1519815	NM_005184.4(CALM3):c.237C>T (p.Asp79=)	CALM3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	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 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 1482801	NM_005184.4(CALM3):c.394G>A (p.Asp132Asn)	CALM3 (D96N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1448365	NC_000019.9:g.(?_47109064)_(47112410_?)dup	CALM3	Duplication	Long QT syndrome 1	GUncertain significance
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 1435429	NM_005184.4(CALM3):c.3+11C>T	CALM3	Single nucleotide variant (intron variant)	Long QT syndrome 1	GLikely benign
Select item 1411336	NC_000019.9:g.(?_47104692)_(47260195_?)dup	STRN4, CALM3 +5 more	Duplication	Long QT syndrome 1	GUncertain significance
Select item 1392516	NM_005184.4(CALM3):c.367G>A (p.Asp123Asn)	CALM3 (D123N +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 1382851	NM_005184.4(CALM3):c.404G>A (p.Gly135Asp)	CALM3 (G99D +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GUncertain significance
Select item 1358003	NM_005184.4(CALM3):c.390C>G (p.Asp130Glu)	CALM3 (D130E +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1	GPathogenic
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 1315898	NM_005184.4(CALM3):c.307G>A (p.Ala103Thr)	CALM3 (A103T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315863	NM_005184.4(CALM3):c.320G>A (p.Arg107His)	CALM3 (R107H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275347	NM_005184.4(CALM3):c.34+37G>C	CALM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269424	NC_000019.10:g.46601055_46601056del	CALM3, LOC130064759	Deletion	not provided	GBenign
Select item 1220149	NC_000019.10:g.46600969T>C	CALM3, LOC130064759	Single nucleotide variant	not provided	GLikely benign

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