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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4M1, TAF6
(S631G +3 more)
Single nucleotide variant
(missense variant +2 more)
Alazami-Yuan syndrome
GUncertain significance
AP4M1, TAF6
(S663del +3 more)
Deletion
(inframe_deletion +2 more)
Alazami-Yuan syndrome
GUncertain significance
AP4M1, TAF6
(T590N +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
AP4M1, TAF6
Single nucleotide variant
(synonymous variant +2 more)
Alazami-Yuan syndrome
+1 more
GConflicting classifications of pathogenicity
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