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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDB3
(G370S +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+1 more
GUncertain significance
MYBPC3
(L994F)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+5 more
GConflicting classifications of pathogenicity
MYBPC3
(R726C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
MYBPC3
(R495W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 4
+4 more
GPathogenic/Likely pathogenic
MYBPC3
Single nucleotide variant
Cardiovascular phenotype
+3 more
GUncertain significance
MYBPC3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 4
+2 more
GConflicting classifications of pathogenicity
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