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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CALR3
(R356L)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GBenign
CALR3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 19
+1 more
GBenign
CALR3
(D284N)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
CALR3
(T283I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
CALR3
(V274I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 19
+3 more
GBenign
CALR3
(Q189fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CALR3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CALR3
(D135N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 19
GUncertain significance
CALR3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CALR3
(K82R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
CALR3
(N42S)
Single nucleotide variant
(missense variant)
CALR3-related disorder
+2 more
GBenign/Likely benign
CALR3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
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