LOC126862021[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 1718023	NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)	CALM1, LOC126862021 (E120K +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
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 1592268	NM_006888.6(CALM1):c.390T>C (p.Asp130=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Long QT syndrome 14 +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 639902	NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)	CALM1, LOC126862021 (D96N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GPathogenic
Select item 1362982	NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)	CALM1, LOC126862021 (D132G +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)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GPathogenic
Select item 2953702	NM_006888.6(CALM1):c.398G>C (p.Gly133Ala)	CALM1, LOC126862021 (G97A +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GUncertain significance
Select item 542137	NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)	LOC126862021, CALM1 (G133E +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 more	GLikely pathogenic
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 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 542139	NM_006888.6(CALM1):c.411C>G (p.Val137=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GLikely benign
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 1547633	NM_006888.6(CALM1):c.417T>C (p.Tyr139=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +1 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 1090568	NM_006888.6(CALM1):c.421+6dup	CALM1, LOC126862021	Duplication (intron variant)	Long QT syndrome 14 +1 more	GLikely benign
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 1579436	NM_006888.6(CALM1):c.421+8_421+9del	CALM1, LOC126862021	Deletion (intron 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 162062	NM_006888.6(CALM1):c.421+16C>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 515960	NM_006888.6(CALM1):c.422-16dup	LOC126862021, CALM1	Duplication (intron variant)	not specified +2 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 1307870	NM_006888.6(CALM1):c.422-6T>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 426161	NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	LOC126862021, CALM1 (F142L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +2 more	GPathogenic
Select item 1122289	NM_006888.6(CALM1):c.426C>T (p.Phe142=)	CALM1, LOC126862021	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 961658	NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)	CALM1, LOC126862021 (F142L +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 14 +1 more	GPathogenic
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

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Items: 37