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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C2CD3
(C1867fs)
Duplication
(frameshift variant)
Orofaciodigital syndrome type 14
GLikely pathogenic
C2CD3
(H350D)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance