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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEPACAM
(V400M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
HEPACAM
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
HEPACAM
(T205I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
HEPACAM
(E162K)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
+3 more
GUncertain significance
HEPACAM
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
HEPACAM
(R73W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HEPACAM
(E32D)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+3 more
GUncertain significance
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