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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRN
(M1T)
Single nucleotide variant
(missense variant +1 more)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(A9D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GRN
(G35fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+2 more
GPathogenic
GRN
(Q130fs)
Deletion
(frameshift variant)
GRN-Related Disorders
+4 more
GPathogenic
GRN
(S226fs)
Deletion
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+2 more
GPathogenic
GRN, LOC125177489
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 11
+2 more
GPathogenic
GRN
(T272fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
GRN
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 11
+1 more
GLikely pathogenic
GRN
(T382fs)
Duplication
(frameshift variant)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+1 more
GPathogenic
GRN
(R493*)
Single nucleotide variant
(nonsense)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
+2 more
GPathogenic
GRN
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 11
+2 more
GBenign
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