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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
Single nucleotide variant
(splice donor variant)
Pfeiffer syndrome
+2 more
GPathogenic/Likely pathogenic
FGF8
(T119M +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
FGF8
(A106E +4 more)
Single nucleotide variant
(missense variant)
Semilobar holoprosencephaly
GLikely pathogenic
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