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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPM, LOC129932155
(A75T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ASPM, LOC129932155
(L65M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ASPM, LOC129932155
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASPM, LOC129932155
(H43R)
Single nucleotide variant
(missense variant)
Microcephaly 5, primary, autosomal recessive
GUncertain significance
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