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Items: 3

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
LOC129935186, TTN
+1 more
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
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