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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGT
(V123L)
Single nucleotide variant
(missense variant +2 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+2 more
GBenign/Likely benign
PIGT
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
+1 more
GBenign/Likely benign
PIGT
(A252V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign/Likely benign
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