Related gene-specific medical variations for Gene (Select 801) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363924	NM_006888.6(CALM1):c.382G>C (p.Glu128Gln)	CALM1, LOC126862021 (E128Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361035	NM_006888.6(CALM1):c.419A>C (p.Glu140Ala)	CALM1 (E104A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338336	NM_006888.6(CALM1):c.398G>T (p.Gly133Val)	CALM1, LOC126862021 (G133V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
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 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 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 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 2624730	NM_006888.6(CALM1):c.392T>C (p.Ile131Thr)	CALM1, LOC126862021 (I131T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451213	NM_006888.6(CALM1):c.414C>T (p.Asn138=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 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 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 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 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 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 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 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 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 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 1307870	NM_006888.6(CALM1):c.422-6T>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1219590	NM_006888.6(CALM1):c.-161C>T	CALM1, LOC112272566	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1217609	NM_006888.6(CALM1):c.-123G>T	CALM1, LOC112272566	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1204542	NM_006888.6(CALM1):c.3+331C>A	CALM1, LOC130056273	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199734	NM_001363669.2(CALM1):c.-106+211G>C	CALM1, LOC112272566	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 974613	NM_006888.6(CALM1):c.422A>T (p.Glu141Val)	CALM1, LOC126862021 (E105V +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14	GPathogenic
Select item 974612	NM_006888.6(CALM1):c.422A>G (p.Glu141Gly)	CALM1, LOC126862021 (E105G +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14	GPathogenic
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 683300	NM_006888.6(CALM1):c.3+293C>T	CALM1, LOC130056273	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683288	NM_006888.4(CALM1):c.-372G>T	CALM1, LOC112272566	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679116	NM_006888.6(CALM1):c.-168C>T	CALM1, LOC112272566	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 670032	NM_006888.6(CALM1):c.3+298G>T	CALM1, LOC130056273	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670029	NM_006888.4(CALM1):c.-390C>T	CALM1, LOC112272566	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 418107	NM_006888.6(CALM1):c.419A>T (p.Glu140Val)	CALM1, LOC126862021 (E140V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 183231	NM_006888.6(CALM1):c.426C>G (p.Phe142Leu)	CALM1, LOC126862021 (F142L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14	GPathogenic
Select item 183230	NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)	CALM1, LOC126862021 (D130G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 162062	NM_006888.6(CALM1):c.421+16C>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	not provided	GBenign

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Links from Gene

Items: 48