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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LTBP1
(G696A +14 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP4
(G256A +31 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SORBS2
(G541A +17 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHG@, PCDHGA1
+8 more
(G737A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
VCP
(G782A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PCDH15
(G737A +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYTL2
(G710A +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TSC2
(G556A +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
GUncertain significance
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