"Ambry Genetics"[submitter] AND "CALM1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1740325	NM_006888.6(CALM1):c.4-3T>C	CALM1	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GUncertain significance
Select item 1782265	NM_006888.6(CALM1):c.18C>G (p.Thr6=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 391901	NM_006888.6(CALM1):c.18C>T (p.Thr6=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1749729	NM_006888.6(CALM1):c.57A>G (p.Leu19=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1752706	NM_006888.6(CALM1):c.62A>G (p.Asp21Gly)	CALM1 (D21G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 475382	NM_006888.6(CALM1):c.69T>C (p.Asp23=)	CALM1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +2 more	GLikely 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 +2 more	GLikely benign
Select item 1763634	NM_006888.6(CALM1):c.84C>T (p.Ile28=)	CALM1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2451212	NM_006888.6(CALM1):c.179-3G>A	CALM1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781652	NM_006888.6(CALM1):c.186C>T (p.Gly62=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1620746	NM_006888.6(CALM1):c.225A>G (p.Arg75=)	CALM1	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GLikely benign
Select item 1793782	NM_006888.6(CALM1):c.260G>A (p.Arg87His)	CALM1 (R51H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586132	NM_006888.6(CALM1):c.264G>A (p.Glu88=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 39758	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	CALM1 (N98S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
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 389896	NM_006888.6(CALM1):c.324C>T (p.His108=)	CALM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 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 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

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Items: 20