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Links from MedGen

Items: 1 to 100 of 469

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely pathogenic
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
GLikely benign
GRN
(R564C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(A566T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+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)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+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)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(G569D)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(H185R)
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
(Q311L)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(M286T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(R538Q)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(S353R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(A29V)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(G333V)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(W304fs)
Duplication
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(P373T)
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
(R418P)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(F86L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GRN
(E576K)
Indel
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(N197K)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(S449R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(C544R)
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
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(E476K)
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
+2 more
GLikely benign
GRN
(A16V)
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, LOC125177489
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
(R214W)
Single nucleotide variant
(missense 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
(P578L)
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
(R547C)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(C99fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
Deletion
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GPathogenic
GRN
(F136V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+2 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(E88A)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN, LOC125177489
(T238fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GPathogenic
GRN
(W386*)
Single nucleotide variant
(nonsense)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(D217V)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(S262fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(L592P)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(A188T)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
Single nucleotide variant
(intron 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
(L10F)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(W7G)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(C61Y)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(A69D)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(T138M)
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)
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, LOC125177489
(C231R)
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
(G17A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Deletion
(inframe_deletion)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(A211V)
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
(A9V)
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)
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
GUncertain significance
GRN
Deletion
(intron variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GBenign
GRN
(L261F)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN, LOC125177489
Single nucleotide variant
(synonymous variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(C534S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(R298H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
(P275L)
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
(G93R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GUncertain significance
GRN
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GBenign
GRN
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 11
+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)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GLikely benign
GRN
(I442M)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GUncertain significance
GRN
(V423M)
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
(synonymous variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely benign
GRN
(R574C)
Single nucleotide variant
(missense variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+2 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
Single nucleotide variant
(synonymous 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
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