ClinVar for MedGen (Select 766961) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244035	NC_000014.8:g.(?_90863575)_(90871061_?)del	CALM1	Deletion	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 2953702	NM_006888.6(CALM1):c.398G>C (p.Gly133Ala)	CALM1, LOC126862021 (G97A +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 2952258	NM_006888.6(CALM1):c.286-9T>C	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2935665	NM_006888.6(CALM1):c.422-19A>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2934173	NM_006888.6(CALM1):c.27G>A (p.Gln9=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2932460	NM_006888.6(CALM1):c.327C>T (p.Val109=)	CALM1	Single nucleotide variant (synonymous variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2932053	NM_006888.6(CALM1):c.3+14G>T	CALM1, LOC130056272	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2930935	NM_006888.6(CALM1):c.237T>C (p.Asp79=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2928298	NM_006888.6(CALM1):c.179-9dup	CALM1	Duplication (intron variant)	Long QT syndrome 14 +1 more	GBenign
Select item 2927882	NM_006888.6(CALM1):c.336C>T (p.Asn112=)	CALM1	Single nucleotide variant (synonymous variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2927571	NM_006888.6(CALM1):c.150G>A (p.Gln50=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2924260	NM_006888.6(CALM1):c.422-15T>C	CALM1, LOC126862021	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2922405	NM_006888.6(CALM1):c.179-17T>G	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2922042	NM_006888.6(CALM1):c.178+16C>A	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2586132	NM_006888.6(CALM1):c.264G>A (p.Glu88=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GLikely benign
Select item 2425651	NC_000014.8:g.(?_90863575)_(90871061_?)dup	CALM1	Duplication	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 2200109	NM_006888.6(CALM1):c.198C>T (p.Phe66=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2196802	NM_006888.6(CALM1):c.285+12T>A	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2158816	NM_006888.6(CALM1):c.234A>G (p.Lys78=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2142518	NM_006888.6(CALM1):c.179-4C>T	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2140608	NM_006888.6(CALM1):c.34+12A>G	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2132986	NM_006888.6(CALM1):c.402C>G (p.Asp134Glu)	CALM1, LOC126862021 (D135E +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 2100843	NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)	CALM1 (D97Y +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GPathogenic
Select item 2083367	NM_006888.6(CALM1):c.178+20G>T	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2061992	NM_006888.6(CALM1):c.70G>A (p.Gly24Ser)	CALM1 (G25S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 2061196	NM_006888.6(CALM1):c.4-7C>T	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2040672	NM_006888.6(CALM1):c.285+15A>G	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2027345	NM_006888.6(CALM1):c.4-6A>T	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 2011416	NM_006888.6(CALM1):c.35-19G>A	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 2004319	NM_006888.6(CALM1):c.35-14A>G	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1997793	NM_006888.6(CALM1):c.179-14T>C	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1981618	NM_006888.6(CALM1):c.213T>C (p.Thr71=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1943117	NM_006888.6(CALM1):c.421+10A>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1926605	NM_006888.6(CALM1):c.3+10G>C	CALM1, LOC130056272	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1763634	NM_006888.6(CALM1):c.84C>T (p.Ile28=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1740325	NM_006888.6(CALM1):c.4-3T>C	CALM1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1718023	NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)	CALM1, LOC126862021 (E120K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 1671658	NM_006888.6(CALM1):c.87A>C (p.Thr29=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1660141	NM_006888.6(CALM1):c.422-20T>C	CALM1, LOC126862021	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1639895	NM_006888.6(CALM1):c.108C>T (p.Val36=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1632430	NM_006888.6(CALM1):c.118C>T (p.Leu40=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1625710	NM_006888.6(CALM1):c.3+13T>C	CALM1, LOC130056272	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1620746	NM_006888.6(CALM1):c.225A>G (p.Arg75=)	CALM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1601848	NM_006888.6(CALM1):c.285+20G>T	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1592268	NM_006888.6(CALM1):c.390T>C (p.Asp130=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1591527	NM_006888.6(CALM1):c.285+17A>G	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1579436	NM_006888.6(CALM1):c.421+8_421+9del	CALM1, LOC126862021	Deletion (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1576161	NM_006888.6(CALM1):c.34+16C>T	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1568949	NM_006888.6(CALM1):c.34+12A>C	CALM1	Single nucleotide variant (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1547633	NM_006888.6(CALM1):c.417T>C (p.Tyr139=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1532952	NM_006888.6(CALM1):c.183T>C (p.Asn61=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1483238	NM_006888.6(CALM1):c.402C>T (p.Asp134=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1424459	NM_006888.6(CALM1):c.328A>C (p.Met110Leu)	CALM1 (M110L +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 1362982	NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)	CALM1, LOC126862021 (D132G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GPathogenic
Select item 1164456	NC_000014.9:g.90397013C>T	CALM1, LOC112272566	Single nucleotide variant (intron variant)	Long QT syndrome 14 +2 more	GBenign
Select item 1136143	NM_006888.6(CALM1):c.90A>C (p.Thr30=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1127747	NM_006888.6(CALM1):c.267A>G (p.Ala89=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1122289	NM_006888.6(CALM1):c.426C>T (p.Phe142=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Long QT syndrome 14 +2 more	GLikely benign
Select item 1090568	NM_006888.6(CALM1):c.421+6dup	CALM1, LOC126862021	Duplication (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
Select item 1086423	NM_006888.6(CALM1):c.4-9T>A	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely benign
Select item 1062650	NC_000014.8:g.(?_90870713)_(90871071_?)dup	CALM1	Duplication	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 961658	NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)	CALM1, LOC126862021 (F142L +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GPathogenic
Select item 948239	NM_006888.6(CALM1):c.395A>T (p.Asp132Val)	CALM1, LOC126862021 (D133V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GPathogenic
Select item 945682	NM_006888.6(CALM1):c.280G>C (p.Asp94His)	CALM1 (D94H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 845207	NM_006888.6(CALM1):c.106G>C (p.Val36Leu)	CALM1 (V37L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 785182	NM_006888.6(CALM1):c.201C>T (p.Pro67=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 674614	NM_006888.6(CALM1):c.4-63C>T	CALM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674613	NM_006888.6(CALM1):c.-86G>A	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GBenign
Select item 644229	NM_006888.6(CALM1):c.301A>G (p.Ile101Val)	CALM1 (I65V +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 639902	NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)	CALM1, LOC126862021 (D96N +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GPathogenic
Select item 542139	NM_006888.6(CALM1):c.411C>G (p.Val137=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 542138	NM_006888.6(CALM1):c.273A>G (p.Arg91=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 542137	NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)	CALM1, LOC126862021 (G133E +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely pathogenic
Select item 515960	NM_006888.6(CALM1):c.422-16dup	CALM1, LOC126862021	Duplication (intron variant)	not specified +2 more	GLikely benign
Select item 513549	NM_006888.6(CALM1):c.35-13del	CALM1	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 475383	NM_006888.6(CALM1):c.78C>T (p.Gly26=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +2 more	GConflicting classifications of pathogenicity
Select item 475382	NM_006888.6(CALM1):c.69T>C (p.Asp23=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +2 more	GLikely benign
Select item 475381	NM_006888.6(CALM1):c.303C>T (p.Ile101=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +4 more	GBenign/Likely benign
Select item 475380	NM_006888.6(CALM1):c.157A>G (p.Ile53Val)	CALM1 (I53V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GUncertain significance
Select item 426161	NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	CALM1, LOC126862021 (F142L +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GPathogenic
Select item 423014	NM_006888.6(CALM1):c.421+7_421+10del	CALM1, LOC126862021	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 391901	NM_006888.6(CALM1):c.18C>T (p.Thr6=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome 14 +3 more	GLikely benign
Select item 389903	NM_006888.6(CALM1):c.4-10C>G	CALM1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 389896	NM_006888.6(CALM1):c.324C>T (p.His108=)	CALM1	Single nucleotide variant (synonymous variant)	Long QT syndrome 14 +3 more	GLikely benign
Select item 389684	NM_006888.6(CALM1):c.178+18A>G	CALM1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 162063	NM_006888.6(CALM1):c.72C>T (p.Gly24=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 39758	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	CALM1 (N98S +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +3 more	GPathogenic/Likely pathogenic
Select item 39757	NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	CALM1 (N54I +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4	GLikely pathogenic

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Items: 88