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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF21A
(S597P +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
GUncertain significance
PHF21A
(V593L +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
GUncertain significance
PHF21A
(D528G +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
GUncertain significance
PHF21A
(N436S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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