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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D32
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome IX
GUncertain significance
TBC1D32
(R734*)
Single nucleotide variant
(nonsense +1 more)
Orofaciodigital syndrome IX
+2 more
GPathogenic/Likely pathogenic
SCLT1
Duplication
(splice acceptor variant)
Orofaciodigital syndrome IX
GUncertain significance
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