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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPECC1L, SPECC1L-ADORA2A
(R540H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SPECC1L, SPECC1L-ADORA2A
(R639*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Craniosynostosis syndrome
GUncertain significance