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Links from MedGen

Items: 1 to 100 of 276

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSTT2, GSTT2B
Single nucleotide variant
(splice donor variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(M1I)
Single nucleotide variant
(missense variant +3 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
Single nucleotide variant
(splice acceptor variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GPathogenic
MLC1
Single nucleotide variant
(splice acceptor variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GLikely pathogenic
MLC1
(V116fs +2 more)
Microsatellite
(frameshift variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(G238fs +5 more)
Microsatellite
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(L114fs +2 more)
Deletion
(frameshift variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
LOC125446261, MLC1
Single nucleotide variant
(splice acceptor variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(S186fs +5 more)
Duplication
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
Single nucleotide variant
(splice acceptor variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1, LOC125446261
(G88V +1 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
Single nucleotide variant
(splice donor variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
Single nucleotide variant
(splice donor variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(S175fs +4 more)
Deletion
(frameshift variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(T189R +5 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
Deletion
(splice donor variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(E172fs +4 more)
Microsatellite
(frameshift variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(K122fs +4 more)
Deletion
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
LOC125446261, MLC1
(C6Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(R113W +4 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Indel
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
LOC125446261, MLC1
(A87V +1 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
(A112fs +4 more)
Duplication
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(S187R +5 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
Deletion
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GPathogenic/Likely pathogenic
MLC1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MLC1
(P34L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
MLC1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GLikely pathogenic
MLC1
Single nucleotide variant
(splice donor variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GLikely pathogenic
MLC1
Single nucleotide variant
(intron variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
(S120* +4 more)
Single nucleotide variant
(nonsense +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(Y119fs +4 more)
Deletion
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(I204fs +5 more)
Deletion
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(K219* +5 more)
Single nucleotide variant
(nonsense +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
Insertion
(nonsense +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(W128* +2 more)
Single nucleotide variant
(nonsense +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(A130D +4 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
(V224fs +5 more)
Indel
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
MLC1
(A105E +4 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GLikely pathogenic
MLC1
(S167fs +4 more)
Deletion
(frameshift variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GPathogenic
HEPACAM
Single nucleotide variant
(synonymous variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+3 more
GLikely benign
HEPACAM
(E162K)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+3 more
GUncertain significance
MLC1
(P260L +5 more)
Single nucleotide variant
(missense variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+2 more
GPathogenic/Likely pathogenic
MLC1
(N110S +2 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GUncertain significance
HEPACAM
(E32D)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
+3 more
GUncertain significance
MLC1
(I135fs +4 more)
Duplication
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GPathogenic/Likely pathogenic
MLC1
(V17L +2 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
(T123I +2 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GPathogenic
LOC125446261, MLC1
(R5H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MLC1
Single nucleotide variant
(intron variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GBenign
MLC1
(R14Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
MLC1
Single nucleotide variant
(synonymous variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
HEPACAM
(R73W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MLC1
Single nucleotide variant
(intron variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely benign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely benign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GBenign
MLC1
Single nucleotide variant
(intron variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GBenign
LOC125446261, MLC1
(L4F +1 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+2 more
GLikely pathogenic
MLC1
(V224fs +5 more)
Deletion
(frameshift variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GPathogenic
MLC1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC125446261, MLC1
(P77L)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
MLC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GUncertain significance
MLC1
(L114* +2 more)
Single nucleotide variant
(nonsense +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(L126* +2 more)
Single nucleotide variant
(nonsense +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(C101* +2 more)
Single nucleotide variant
(nonsense +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(S108* +2 more)
Single nucleotide variant
(nonsense +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(K121* +4 more)
Single nucleotide variant
(nonsense +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(E108* +4 more)
Single nucleotide variant
(nonsense +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(S201* +5 more)
Single nucleotide variant
(nonsense +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GLikely pathogenic
MLC1
(I34fs +2 more)
Indel
(frameshift variant +2 more)
not provided
GPathogenic
MLC1
(C200fs +4 more)
Duplication
(frameshift variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+1 more
GPathogenic/Likely pathogenic
LOC125446261, MLC1
(A86P +1 more)
Single nucleotide variant
(missense variant +2 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(5 prime UTR variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(5 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(synonymous variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GBenign
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
MLC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Megalencephalic leukoencephalopathy with subcortical cysts 1
GUncertain significance
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