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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEPACAM
(R98C)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GPathogenic
HEPACAM
(R92Q)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GPathogenic/Likely pathogenic
HEPACAM
(R92W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HEPACAM
(G89S)
Single nucleotide variant
(missense variant)
HEPACAM-related condition
+2 more
GPathogenic
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