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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHDC1
(P1382L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AHDC1
(Y1260H)
Single nucleotide variant
(missense variant)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
GUncertain significance
AHDC1
(F1173Y)
Single nucleotide variant
(missense variant)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
GUncertain significance
AHDC1
(R469W)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
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