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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4M1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
AP4M1
(G247A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
+1 more
GBenign/Likely benign
AP4M1
(R318Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
+2 more
GConflicting classifications of pathogenicity
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
AP4M1
(R367Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
+2 more
GUncertain significance
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