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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAN2
Single nucleotide variant
(splice acceptor variant)
PAN2-related multiple congenital anomalies syndrome
GLikely pathogenic
PAN2
(E1133* +4 more)
Duplication
(nonsense +1 more)
PAN2-related multiple congenital anomalies syndrome
GLikely pathogenic
PAN2
(E637* +4 more)
Single nucleotide variant
(nonsense)
PAN2-related multiple congenital anomalies syndrome
GLikely pathogenic
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