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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4M1
(R268Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+1 more
GUncertain significance
AP4M1
(R441* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 50
+1 more
GConflicting classifications of pathogenicity
AP4M1, TAF6
(A461V +3 more)
Single nucleotide variant
(missense variant +2 more)
Alazami-Yuan syndrome
GUncertain significance
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