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Links from MedGen

Items: 1 to 100 of 345

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHLRC1
(D173fs)
Deletion
(frameshift variant)
Lafora disease
GPathogenic
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(R76Q)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(E374*)
Single nucleotide variant
(nonsense)
Lafora disease
GPathogenic
NHLRC1
(E248fs)
Deletion
(frameshift variant)
Lafora disease
GPathogenic
NHLRC1
(G77fs)
Deletion
(frameshift variant)
Lafora disease
GPathogenic
NHLRC1
(C46Y)
Single nucleotide variant
(missense variant)
Lafora disease
GLikely pathogenic
NHLRC1
(R252P)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(H187fs)
Deletion
(frameshift variant)
Lafora disease
GPathogenic
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GUncertain significance
NHLRC1
(C26G)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
EPM2A
(R159K +1 more)
Single nucleotide variant
(missense variant +2 more)
Lafora disease
GUncertain significance
NHLRC1
(L239P)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(S216del)
Deletion
(inframe_deletion)
Lafora disease
GUncertain significance
EPM2A, EPM2A-DT
+1 more
(W60*)
Single nucleotide variant
(nonsense +2 more)
Progressive myoclonic epilepsy
+1 more
GPathogenic/Likely pathogenic
NHLRC1
Deletion
(frameshift variant)
Lafora disease
GUncertain significance
NHLRC1
(T232I)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(S216A)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(R62P)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(G9V)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(L126P)
Single nucleotide variant
(missense variant)
Lafora disease
GLikely pathogenic
NHLRC1
(D185H)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GUncertain significance
NHLRC1
(P41S)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(A324S)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(G249A)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(V151D)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(G9E)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(S299L)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(G157R)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(R76W)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GUncertain significance
NHLRC1
(V294M)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(V189F)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(K152E)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
EPM2A, EPM2A-DT
+1 more
(E100*)
Single nucleotide variant
(nonsense +2 more)
Lafora disease
+1 more
GConflicting classifications of pathogenicity
NHLRC1
(L52V)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(E4K)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(I276T)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(G266E)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(V359G)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
EPM2A
(R183G +3 more)
Single nucleotide variant
(nonsense +2 more)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
+1 more
GLikely benign
NHLRC1
(Y315N)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(H60Q)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(N184T)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(E91G)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(P355S)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
+1 more
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
Single nucleotide variant
(synonymous variant)
Lafora disease
GLikely benign
NHLRC1
(D146E)
Single nucleotide variant
(missense variant)
Lafora disease
GLikely pathogenic
NHLRC1
(S8N)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(L132M)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(L312P)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(L12G)
Indel
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(A103V)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(G220D)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(G220V)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(M16I)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(E374K)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(S270Y)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(L261P)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(A2E)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(I343V)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(P61Q)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(K388fs)
Deletion
(frameshift variant)
Lafora disease
+1 more
GLikely pathogenic
NHLRC1
(A324T)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1
(A107P)
Single nucleotide variant
(missense variant)
Lafora disease
GUncertain significance
NHLRC1, TPMT
Deletion
Lafora disease
GPathogenic
NHLRC1
(V267fs)
Duplication
(frameshift variant)
Lafora disease
GPathogenic
NHLRC1
Deletion
(nonsense)
Lafora disease
GPathogenic
NHLRC1
(V392I)
Single nucleotide variant
(missense variant)
Lafora disease
+1 more
GUncertain significance
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