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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4M1, TAF6
(A461V +3 more)
Single nucleotide variant
(missense variant +2 more)
Alazami-Yuan syndrome
GUncertain significance
TAF6
(I108T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic