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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPA, SPATA22
(R71H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ASPA, SPATA22
Single nucleotide variant
(splice acceptor variant +1 more)
Canavan Disease, Familial Form
+2 more
GPathogenic/Likely pathogenic
ASPA, SPATA22
(Y231*)
Single nucleotide variant
(nonsense +1 more)
Canavan Disease, Familial Form
+3 more
GPathogenic
SPATA22, ASPA
(P257R)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+2 more
GConflicting classifications of pathogenicity
ASPA, SPATA22
(E285A)
Single nucleotide variant
(missense variant +1 more)
Canavan Disease, Familial Form
+3 more
GPathogenic
ASPA, SPATA22
(Y288C)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
Gnot provided
ASPA, SPATA22
(A305E)
Single nucleotide variant
(missense variant +1 more)
Canavan Disease, Familial Form
+3 more
GPathogenic
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