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Links from MedGen

Items: 1 to 100 of 558

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRN
(C42G)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GUncertain significance
GRN
(E393D)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(A266V)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(V452A)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(S420N)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(N368del)
Deletion
(inframe_deletion)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(R535*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(F131L)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(G414R)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(A312V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(W49C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(C335Y)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(C410fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(P44fs)
Insertion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(Q337H)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(P34H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(P405S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(H402D)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(R555Q)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN, LOC125177489
(D242H)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(Q446L)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(G59A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(T570A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(D536N)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Microsatellite
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(T251S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely pathogenic
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+2 more
GConflicting classifications of pathogenicity
GRN
(A359V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(S420R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(E336Q)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(W2*)
Single nucleotide variant
(nonsense)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(G524V)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(P50L)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(Q548*)
Single nucleotide variant
(nonsense)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN, LOC125177489
(C239F)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(D441fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(Q130*)
Single nucleotide variant
(nonsense)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(H163Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(C521G)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(C475R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(G524R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(C222Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(Y229H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(T327M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN, LOC125177489
(C232R)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(T3I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(S262P)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN, LOC125177489
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Deletion
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely pathogenic
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
Single nucleotide variant
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(P587S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+2 more
GUncertain significance
GRN
(R432H)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+2 more
GUncertain significance
GRN
(R564C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
GRN-related disorder
+2 more
GLikely benign
GRN
(A566T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GRN
(P439R)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(G443R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(R510H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
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