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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP2M1, LOC123453202
(Q28H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
AP2M1, LOC123453202
(S38P)
Single nucleotide variant
(missense variant +1 more)
AP2M1-related disorder
GBenign
AP2M1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AP2M1
Single nucleotide variant
(intron variant)
AP2M1-related disorder
+1 more
GBenign/Likely benign
AP2M1
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder 60 with seizures
+2 more
GBenign
AP2M1
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder 60 with seizures
+2 more
GBenign
AP2M1
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder 60 with seizures
+2 more
GBenign/Likely benign
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