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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OFD1
(D80fs)
Indel
(frameshift variant +1 more)
Orofaciodigital syndrome I
GLikely pathogenic
OFD1
(Y98fs +1 more)
Duplication
(frameshift variant)
Orofaciodigital syndrome I
+4 more
GPathogenic
OFD1
Single nucleotide variant
(splice donor variant)
Orofaciodigital syndrome I
GLikely pathogenic
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