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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA
(D1404G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
FLNA-related periventricular nodular heterotopia
+5 more
GConflicting classifications of pathogenicity
FLNA
(A232V)
Single nucleotide variant
(missense variant)
FLNA-related otopalatodigital spectrum disorders
GUncertain significance
DNASE1L1, EMD
+3 more
Copy number gain
not provided
GUncertain significance
CXorf49B, CXorf51A
+821 more
Copy number loss
not provided
GPathogenic
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