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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT140, TMEM204
(T180M)
Single nucleotide variant
(missense variant +1 more)
Saldino-Mainzer syndrome
+1 more
GUncertain significance
ABCA3, ADCY9
+159 more
Copy number gain
Chromosome 16p13.3 duplication syndrome
GPathogenic