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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHDC1
(G1274R)
Single nucleotide variant
(missense variant)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
GUncertain significance
AHDC1
(M478fs)
Deletion
(frameshift variant)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
+1 more
GPathogenic/Likely pathogenic