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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPLANE1
(P2787S +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CPLANE1
Single nucleotide variant
(splice acceptor variant)
Orofaciodigital syndrome type 6
+4 more
GConflicting classifications of pathogenicity
CPLANE1
(P968fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
CPLANE1
(L465fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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