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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
LOC129935185, TTN
+1 more
(E35060D +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
LOC129935185, TTN
+1 more
(R35050T +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
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