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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLC1
(L309M +5 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
Gnot provided
MLC1
(V224fs +5 more)
Indel
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
MLC1
(A275D +5 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GPathogenic/Likely pathogenic
MLC1
Deletion
(splice acceptor variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
Gnot provided
MLC1
(S93L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC125446261, MLC1
Single nucleotide variant
(intron variant)
not provided
+4 more
GPathogenic/Likely pathogenic
MLC1
(G59E)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+2 more
GPathogenic/Likely pathogenic
MLC1
(C46fs)
Duplication
(frameshift variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GPathogenic
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