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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDGFA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDGFA
(R42Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PDGFA, PRKAR1B
+3 more
Deletion
Emery-Dreifuss muscular dystrophy
GUncertain significance
FAM20C, GET4
+13 more
Deletion
not provided
GPathogenic
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