Full data view for gene GRN

An NCL gene variant database
Information The variants shown are described using the NM_002087.2 transcript reference sequence.

411 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1_2 c.-8+3A>T r.-8_-7ins3823 0 Unknown - pathogenic g.42422705A>T g.44345337A>T - - GRN_000059 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63751020 Unknown no - - 0 - DNA ? - - FTD - - - - - France Caucasian - 0 - - 1 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 64y07m 0 - - 11 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 71y02m 0 - - 11 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 71y 0 - - 7 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 68y 0 - - 1 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 71y 0 - - 2 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 67y09m 0 - - 3 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 71y06m 0 - - 2 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown yes - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian 65y 0 - - 2 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown no - - 0 - DNA ? - - AD - - - - - Belgium Caucasian 76y 0 - - 1 Marc Cruts
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0 Unknown - pathogenic g.42422707G>C g.44345339G>C - - GRN_000060 Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation - - rs63750313 Unknown no - - 0 - DNA ? - - FTD - - Patient presented with Parkinson disease. Neuropathologic diagnosis revealed FTLDU and Lewy body features. - - Belgium Caucasian 61y 0 - - 1 Marc Cruts
+/+ 2_12 c.-7-88_1645-7del r.(-7_1644del) p.? Unknown - pathogenic g.42426438_42430022del g.44349070_44352654del - - GRN_000061 Genomic deletion of 3585 bp ranging from 88 bp upstream of exon 2 to 7 bp upstream of exon 13 - - - Unknown yes - - 0 - DNA ? - - FTD, PD - - - - - France Caucasian 71y10m 0 - - 2 Marc Cruts
+/+ 2 c.(1A>G) r.(?) 0 Unknown - pathogenic g.42426533A>G g.44349165A>G - - GRN_000062 Point mutation in translation initiation codon predicted to result in reduced mRNA levels - - - Unknown no - - 0 - DNA ? - - ?, FTD - - Mutation observed in proband and relative with schizophrenia - - - - 55y 0 - - 2 Marc Cruts
+/+ 2 c.2T>C r.(?) 0 Unknown - pathogenic g.42426534T>C g.44349166T>C - - GRN_000063 Point mutation in translation initiation codon resulting in reduced mRNA levels - - rs63751006 Unknown no - - 0 - DNA ? - - FTD - - - - - United States Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.2T>C r.(?) 0 Unknown - pathogenic g.42426534T>C g.44349166T>C - - GRN_000063 Point mutation in translation initiation codon resulting in reduced mRNA levels - - rs63751006 Unknown no - - 0 - DNA ? - - FTD - - - - - Italy Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(3G>A) r.(?) p.(Met1?) Unknown - pathogenic g.42426535G>A g.44349167G>A - - GRN_000064 Point mutation in translation initiation codon predicting failed translation - - rs63750331 Unknown no - - 0 - DNA ? - - FTD - - - - - Belgium Caucasian - 0 - - 1 Marc Cruts
?/? 2 c.(13G>C) r.(?) p.(Val5Leu) Unknown - VUS g.42426545G>C g.44349177G>C - - GRN_000065 Observed in 1 familial FTD-MND patient, no segregation. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - FTDALS - - - - - - Caucasian 65y 0 - - 1 Marc Cruts
?/? 2 c.(19T>C) r.(?) p.(Trp7Arg) Unknown - VUS g.42426551T>C g.44349183T>C - - GRN_000066 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
?/. - c.19T>C r.(?) p.(Trp7Arg) Unknown - VUS g.42426551T>C g.44349183T>C GRN(NM_002087.2):c.19T>C (p.W7R) - GRN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.19T>G r.(?) p.(Trp7Gly) Unknown - VUS g.42426551T>G g.44349183T>G GRN(NM_002087.2):c.19T>G (p.W7G) - GRN_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.22G>A r.(?) p.(Val8Met) Unknown - VUS g.42426554G>A g.44349186G>A GRN(NM_002087.2):c.22G>A (p.V8M) - FAM171A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22G>A r.(?) p.(Val8Met) Unknown - likely benign g.42426554G>A g.44349186G>A GRN(NM_002087.2):c.22G>A (p.V8M) - FAM171A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.23T>A r.(?) p.(Val8Glu) Unknown - likely pathogenic g.42426555T>A g.44349187T>A GRN(NM_002087.2):c.23T>A (p.V8E) - GRN_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp) Unknown - pathogenic g.42426558C>A g.44349190C>A - - GRN_000067 Point mutation in coding region predicting an amino acid substitution - - rs63751243 Unknown no - - 0 - DNA ? - - ? - - - - - United States Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp) Unknown - pathogenic g.42426558C>A g.44349190C>A - - GRN_000067 Point mutation in coding region predicting an amino acid substitution - - rs63751243 Unknown no - - 0 - DNA ? - - FTD - - Parents died at 66 and 70 years without signs of dementia - - United States Caucasian 56y 0 - - 1 Marc Cruts
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp) Unknown - pathogenic g.42426558C>A g.44349190C>A - - GRN_000067 Point mutation in coding region predicting an amino acid substitution - - rs63751243 Unknown no - - 0 - DNA ? - - AD, FTD - - - - - United States Caucasian 65y06m 0 - - 2 Marc Cruts
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp) Unknown - pathogenic g.42426558C>A g.44349190C>A - - GRN_000067 Point mutation in coding region predicting an amino acid substitution - - rs63751243 Unknown yes - - 0 - DNA ? - - FTD - - - - - United States Caucasian (Central European Ancestry) 70y02m 0 - - 26 Marc Cruts
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp) Unknown - pathogenic g.42426558C>A g.44349190C>A - - GRN_000067 Point mutation in coding region predicting an amino acid substitution - - rs63751243 Unknown no - - 0 - DNA ? - - ? - - - - - - - 62y 0 - - 1 Marc Cruts
-/- 2 c.(42G>A) r.(?) p.(=) Unknown - benign g.42426574G>A g.44349206G>A - - GRN_000068 Observed in 1 FTD patient and 15 African control individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Silent point mutation in coding region"" - - - Unknown no - - 0 - DNA ? - - FTD - - - - - Portugal Caucasian - 0 - - 1 Marc Cruts
-/. - c.42G>A r.(?) p.(Leu14=) Unknown - benign g.42426574G>A g.44349206G>A GRN(NM_002087.2):c.42G>A (p.L14=) - GRN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 2 c.(55C>T) r.(?) p.(Arg19Trp) Unknown - benign g.39782113C>T g.41625861C>T - - GRN_000005 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750723 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.55C>T r.(?) p.(Arg19Trp) Unknown - benign g.42426587C>T g.44349219C>T GRN(NM_002087.2):c.55C>T (p.R19W) - GRN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.(63_64insC) r.(?) p.(Asp22Argfs*43) Unknown - pathogenic g.42426595_42426596insC g.44349227_44349228insC - - GRN_000069 Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63750981 Unknown no - - 0 - DNA ? - - FTD - - - - - United States Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(63_64insC) r.(?) p.(Asp22Argfs*43) Unknown - pathogenic g.42426595_42426596insC g.44349227_44349228insC - - GRN_000069 Single nucleotide insertion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63750981 Unknown yes - - 0 - DNA ? - - FTD - - - - - Italy Caucasian 73y 0 - - 5 Marc Cruts
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35) Unknown - pathogenic g.42426619_42426622dup g.44349251_44349254dup - - GRN_000070 Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay - - rs63751057 Unknown yes - - 0 - DNA ? - - FTD - - - - - Canada Caucasian 64y 0 - - 17 Marc Cruts
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35) Unknown - pathogenic g.42426619_42426622dup g.44349251_44349254dup - - GRN_000070 Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay - - rs63751057 Unknown yes - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian 65y 0 - - 10 Marc Cruts
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35) Unknown - pathogenic g.42426619_42426622dup g.44349251_44349254dup - - GRN_000070 Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay - - rs63751057 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35) Unknown - pathogenic g.42426619_42426622dup g.44349251_44349254dup - - GRN_000070 Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay - - rs63751057 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35) Unknown - pathogenic g.42426619_42426622dup g.44349251_44349254dup - - GRN_000070 Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay - - rs63751057 Unknown no - - 0 - DNA ? - - FTD - - - - - United Kingdom (Great Britain) Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35) Unknown - pathogenic g.42426619_42426622dup g.44349251_44349254dup - - GRN_000070 Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay - - rs63751057 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
?/? 2 c.(99C>A) r.(?) p.(Asp33Glu) Unknown - VUS g.42426631C>A g.44349263C>A - - GRN_000071 Observed in 1 AD patient and 1 PD patient, absent from 459 control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - AD - - - - - Belgium Caucasian 85y 0 - - 1 Marc Cruts
?/? 2 c.(99C>A) r.(?) p.(Asp33Glu) Unknown - VUS g.42426631C>A g.44349263C>A - - GRN_000071 Observed in 1 AD patient and 1 PD patient, absent from 459 control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - PD - - - - - - Caucasian (Belgian) - 0 - - 1 Marc Cruts
-/? 2 c.(99C>T) r.(?) p.(=) Unknown - benign g.39782157C>T - - - GRN_000006 Observed in multiple control individuals. /r/Silent point mutation in coding region Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs63750742 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(?) p.(Asp33=) Unknown - likely benign g.42426631C>T g.44349263C>T GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(?) p.(Asp33=) Unknown - likely benign g.42426631C>T g.44349263C>T GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99C>T r.(?) p.(Asp33=) Unknown - benign g.42426631C>T g.44349263C>T GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99C>T r.(?) p.(Asp33=) Unknown - benign g.42426631C>T g.44349263C>T GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.(102C>T) r.(?) p.(=) Unknown - VUS g.39782160C>T - - - GRN_000007 Observed in 1 FTD patient, absent in 646 control individuals. /r/Silent point mutation in coding region Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs63751074 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.(102del) r.(?) p.(Gly35Glufs*19) Unknown - pathogenic g.42426634del g.44349266del - - GRN_000072 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751073 Unknown no - - 0 - DNA ? - - ? - - - - - United States Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(102del) r.(?) p.(Gly35Glufs*19) Unknown - pathogenic g.42426634del g.44349266del - - GRN_000072 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751073 Unknown no - - 0 - DNA ? - - FTD - - - - - Sweden Caucasian - 0 - - 1 Marc Cruts
+/+ 2 c.(102del) r.(?) p.(Gly35Glufs*19) Unknown - pathogenic g.42426634del g.44349266del - - GRN_000072 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751073 Unknown yes - - 0 - DNA ? - - FTD - - - - - Sweden Caucasian 58y02m 0 - - 10 Marc Cruts
?/? 2 c.103G>A r.(?) p.(Gly35Arg) Unknown - VUS g.42426635G>A g.44349267G>A - - GRN_000073 Observed in 1 AD patient, absent in 226 controls. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - DNA ? - - AD - - - - - Italy Caucasian - 0 - - 1 Marc Cruts
-?/. - c.128G>A r.(?) p.(Arg43His) Unknown - likely benign g.42426660G>A g.44349292G>A GRN(NM_002087.2):c.128G>A (p.R43H) - GRN_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1i_2i c.138+1G>A r.-7_138del p.? Unknown - pathogenic g.42426671G>A g.44349303G>A - - GRN_000074 Point mutation in intron 2 splice donor site predicted to cause exon 2 skipping, deletion of Kozak sequence and failed translation initiation - - rs63749844 Unknown no - - 0 - DNA ? - - FTD - PubMed: Rogaeva EA 2001 PubMed: Amtul Z 2002 PubMed: Tang-Wai D 2002 The proband also carries the <a href=\""http://www.molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=127"""">PSEN1 insR352</a> mutation"" - - - - 74y06m 0 - - 3 Marc Cruts
+/+ 1i_2i c.138+1G>A r.-7_138del p.? Unknown - pathogenic g.42426671G>A g.44349303G>A - - GRN_000074 Point mutation in intron 2 splice donor site predicted to cause exon 2 skipping, deletion of Kozak sequence and failed translation initiation - - rs63749844 Unknown no - - 0 - DNA ? - - FTD - - - - - United States Caucasian 63y 0 - - 1 Marc Cruts
-?/. - c.139-3T>C r.spl? p.? Unknown - likely benign g.42426791T>C g.44349423T>C GRN(NM_002087.2):c.139-3T>C - FAM171A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2) Unknown - pathogenic g.42426809del g.44349441del - - GRN_000075 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751092 Unknown yes - - 0 - DNA ? - - AD, FTD - - - - - United States Caucasian 76y 0 - - 1 Marc Cruts
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2) Unknown - pathogenic g.42426809del g.44349441del - - GRN_000075 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751092 Unknown no - - 0 - DNA ? - - FTD - - - - - United States Caucasian 87y 0 - - 1 Marc Cruts
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2) Unknown - pathogenic g.42426809del g.44349441del - - GRN_000075 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751092 Unknown no - - 0 - DNA ? - - ? - - - - - United States Caucasian - 0 - - 1 Marc Cruts
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2) Unknown - pathogenic g.42426809del g.44349441del - - GRN_000075 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751092 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
?/? 3 c.154del r.(?) p.(Thr52Hisfs*2) Unknown - VUS g.42426809del g.44349441del - - GRN_000075 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in non-sense mediated mRNA decay - - - Unknown no - - 0 - DNA ? - - AD, FTD - - - - - - - - 0 - - 8 Marc Cruts
?/? 3 c.(158T>C) r.(?) p.(Leu53Pro) Unknown - VUS g.39782339T>C - - - GRN_000008 Observed in 1 non-familial FTD patient, absent in 160 control individuals. /r/Point mutation in coding region predicting an amino acid substitution Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs63750481 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 3 c.(163A>T) r.(?) p.(Arg55Trp) Unknown - benign g.39782344A>T g.41626092A>T - - GRN_000009 Observed in 1 Asian individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Point mutation in coding region predicting an amino acid substitution"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.173G>A r.(?) p.(Gly58Asp) Unknown - likely benign g.42426828G>A g.44349460G>A GRN(NM_002087.2):c.173G>A (p.G58D) - FAM171A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 3 c.(205G>A) r.(?) p.(Ala69Thr) Unknown - benign g.39782386G>A - - - GRN_000010 Observed in 1 Asian individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Point mutation in coding region predicting an amino acid substitution"" Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(His71=) Unknown - likely benign g.42426868C>T g.44349500C>T GRN(NM_002087.2):c.213C>T (p.H71=) - GRN_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 3 c.(228C>T) r.(?) p.(=) Unknown - benign g.39782409C>T - - - GRN_000011 Observed in 3 African individuals of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Silent point mutation in coding region"" Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T r.(?) p.(Thr76=) Unknown - likely benign g.42426883C>T g.44349515C>T GRN(NM_002087.2):c.228C>T (p.T76=) - GRN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.(234_235del) r.(?) p.(Gly79Aspfs*39) Unknown - pathogenic g.42426889_42426890del g.44349521_44349522del - - GRN_000076 Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63750373 Unknown no - - 0 - DNA ? - - FTD - - - - - United States Caucasian 66y 0 - - 1 Marc Cruts
+/+ 3 c.(234_235del) r.(?) p.(Gly79Aspfs*39) Unknown - pathogenic g.42426889_42426890del g.44349521_44349522del - - GRN_000076 Dinucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63750373 Unknown no - - 0 - DNA ? - - FTD - - - - - United States Caucasian 68y 0 - - 1 Marc Cruts
+/+ 3 c.(243del) r.(?) p.(Ser82Valfs*174) Unknown - pathogenic g.42426898del g.44349530del - - GRN_000077 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63751193 Unknown yes - - 0 - DNA ? - - FTD - - - - - Netherlands Caucasian 70y09m 0 - - 10 Marc Cruts
+/. - c.243del r.(?) p.(Ser82ValfsTer174) Unknown - pathogenic g.42426898del g.44349530del GRN(NM_002087.2):c.243delC (p.S82Vfs*174) - GRN_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.243del r.(?) p.(Ser82ValfsTer174) Unknown - pathogenic g.42426898del g.44349530del GRN(NM_002087.2):c.243delC (p.S82Vfs*174) - GRN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.(255del) r.(?) p.(Phe86Serfs*170) Unknown - pathogenic g.42426910del g.44349542del - - GRN_000078 Single nucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - - Unknown no - - 0 - DNA ? - - FTD - - - - - - Caucasian - 0 - - 1 Marc Cruts
-?/. - c.261A>G r.(?) p.(Pro87=) Unknown - likely benign g.42426916A>G g.44349548A>G GRN(NM_002087.2):c.261A>G (p.P87=) - GRN_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.(264G>A) r.(?) p.(=) Unknown - VUS g.39782445G>A g.41626193G>A - - GRN_000012 Silent point mutation in coding region - - rs63751166 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3_4 c.(264+2C>T) r.264_265ins34 0 Unknown - pathogenic g.42426921C>T - - - GRN_000079 Point mutation in intron 3 splice donor site causing cryptic splicing, frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown no - - 0 - DNA ? - - FTD - - - - - - Caucasian - 0 - - 1 Marc Cruts
-/. - c.264+7G>A r.(=) p.(=) Unknown - benign g.42426926G>A g.44349558G>A GRN(NM_002087.2):c.264+7G>A - GRN_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.264+7G>A r.(=) p.(=) Unknown - likely benign g.42426926G>A g.44349558G>A GRN(NM_002087.2):c.264+7G>A - GRN_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.264+7G>A r.(=) p.(=) Unknown - likely benign g.42426926G>A g.44349558G>A GRN(NM_002087.2):c.264+7G>A - GRN_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.264+21G>A r.(=) p.(=) Unknown - benign g.42426940G>A g.44349572G>A GRN(NM_002087.2):c.264+21G>A - GRN_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 4 c.(267C>T) r.(?) p.(=) Unknown - benign g.39782563C>T - - - GRN_000013 Observed in 1 Asian individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Silent point mutation in coding region"" Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>T r.(?) p.(Ala89=) Unknown - likely benign g.42427037C>T g.44349669C>T GRN(NM_002087.2):c.267C>T (p.A89=) - GRN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 4 c.(279G>A) r.(?) p.(=) Unknown - benign g.42427049G>A g.44349681G>A - - GRN_000080 Observed in 2 FTD patients and 1 unaffected individual. /r/Silent point mutation in coding region - - rs63751088 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
-?/. - c.279G>A r.(?) p.(Gly93=) Unknown - likely benign g.42427049G>A g.44349681G>A GRN(NM_002087.2):c.279G>A (p.G93=) - GRN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279G>A r.(?) p.(Gly93=) Unknown - likely benign g.42427049G>A - GRN(NM_002087.2):c.279G>A (p.G93=) - GRN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.(313T>C) r.(?) p.(Cys105Arg) Unknown - VUS g.39782609T>C - - - GRN_000014 Point mutation in coding region predicting an amino acid substitution Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs63750441 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 4 c.(317G>A) r.(?) p.(Ser106Asn) Unknown - benign g.39782613G>A - - - GRN_000015 Observed in 1 unaffected individual. /r/Point mutation in coding region predicting an amino acid substitution Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs63750202 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 4 c.(324C>T) r.(?) p.(=) Unknown - benign g.39782620C>T g.41626368C>T - - GRN_000016 Observed in 1 African individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Silent point mutation in coding region"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.(328C>T) r.(?) p.(Arg110*) Unknown - pathogenic g.42427098C>T g.44349730C>T - - GRN_000081 Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay - - rs63750411 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
+/+ 4 c.(328C>T) r.(?) p.(Arg110*) Unknown - pathogenic g.42427098C>T g.44349730C>T - - GRN_000081 Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay - - rs63750411 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
+/+ 4 c.(328C>T) r.(?) p.(Arg110*) Unknown - pathogenic g.42427098C>T g.44349730C>T - - GRN_000081 Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay - - rs63750411 Unknown no - - 0 - DNA ? - - FTD - - - - - - - - 0 - - 1 Marc Cruts
?/? 4 c.(329G>A) r.(?) p.(Arg110Gln) Unknown - VUS g.39782625G>A g.41626373G>A - - GRN_000017 Observed in 1 ALS patient, absent in 308 controls. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.329G>A r.(?) p.(Arg110Gln) Unknown - VUS g.42427099G>A g.44349731G>A GRN(NM_002087.2):c.329G>A (p.R110Q) - GRN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.349+12G>T r.(=) p.(=) Unknown - likely benign g.42427131G>T g.44349763G>T GRN(NM_002087.2):c.349+12G>T - GRN_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.350-50_350-47dup r.(=) p.(=) Unknown - benign g.42427546_42427549dup g.44350178_44350181dup GRN(NM_002087.2):c.350-50_350-47dupGTCA - FAM171A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.350del r.(350_462del) p.(Asn118Phefs*4) Unknown - pathogenic g.42427596del g.44350228del - - GRN_000082 Single nucleotide deletion in intron 4 splice acceptor site predicting exon 5 skipping, frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - - Unknown no - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 Marc Cruts
+/+ 5 c.350del r.(350_462del) p.(Asn118Phefs*4) Unknown - pathogenic g.42427596del g.44350228del - - GRN_000082 Single nucleotide deletion in intron 4 splice acceptor site predicting exon 5 skipping, frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - - Unknown no - - 0 - DNA ? - - FTD - - - - - - Caucasian - 0 - - 1 Marc Cruts
-/? 5 c.(355_357del) r.(?) p.(Asn119del) Unknown - benign g.39783127_39783129delAAC - - - GRN_000018 Observed in 1 Asian individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Trinucleotide deletion in coding region predicting a deletion of one amino acid"" Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 5 c.(359C>A) r.(?) p.(Ser120Tyr) Unknown - benign g.42427605C>A g.44350237C>A - - GRN_000083 Observed in 2 patients possiby sharing a GRN haplotype; absent in 590 control individuals. Identified in two Asian control individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Dive. /r/Point mutation in coding region predicting an amino acid substitution"" - - rs63750043 Unknown no - - 0 - DNA ? - - FTDALS - - - - - - - 63y 0 - - 1 Marc Cruts
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