"Clinical Genetics, Academic Medical Center"[submitter] AND "CALR3"[ge - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284316	NM_145046.5(CALR3):c.1068_1069del (p.Glu357fs)	CALR3 (E357fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 416237	NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu)	CALR3 (R356L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GBenign
Select item 241948	NM_145046.5(CALR3):c.1012-9T>C	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19 +1 more	GBenign
Select item 496549	NM_145046.5(CALR3):c.972C>T (p.Tyr324=)	CALR3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 220787	NM_145046.5(CALR3):c.861G>A (p.Thr287=)	CALR3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 192182	NM_145046.5(CALR3):c.850G>A (p.Asp284Asn)	CALR3 (D284N)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 416239	NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)	CALR3 (T283I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 192183	NM_145046.5(CALR3):c.820G>A (p.Val274Ile)	CALR3 (V274I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +3 more	GBenign
Select item 496548	NM_145046.5(CALR3):c.702C>T (p.Asp234=)	CALR3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 518292	NM_145046.5(CALR3):c.564del (p.Gln189fs)	CALR3 (Q189fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 518293	NM_145046.5(CALR3):c.484A>G (p.Arg162Gly)	CALR3 (R162G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19 +1 more	GUncertain significance
Select item 241951	NM_145046.5(CALR3):c.483C>A (p.Ile161=)	CALR3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 410619	NM_145046.5(CALR3):c.403G>A (p.Asp135Asn)	CALR3 (D135N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 19	GUncertain significance
Select item 220700	NM_145046.5(CALR3):c.398-6T>C	CALR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 496547	NM_145046.5(CALR3):c.397+10C>T	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19 +1 more	GBenign
Select item 496546	NM_145046.5(CALR3):c.381G>A (p.Gln127=)	CALR3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1142237	NM_145046.5(CALR3):c.378G>A (p.Ser126=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19 +1 more	GLikely benign
Select item 30907	NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)	CALR3 (K82R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1284286	NM_145046.5(CALR3):c.193+17G>A	CALR3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 19	GLikely benign
Select item 241949	NM_145046.5(CALR3):c.125A>G (p.Asn42Ser)	CALR3 (N42S)	Single nucleotide variant (missense variant)	CALR3-related disorder +2 more	GBenign/Likely benign
Select item 471797	NM_145046.5(CALR3):c.96T>C (p.His32=)	CALR3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 19 +1 more	GBenign/Likely benign
Select item 416238	NM_145046.5(CALR3):c.60C>G (p.Thr20=)	CALR3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign

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Items: 22