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.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/? 2 c.(55C>T) - r.(?) p.(Arg19Trp) Unknown g.39782113C>T - - - GRN_000005 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750723 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 2 c.(99C>T) - r.(?) p.(=) Unknown g.39782157C>T - - - GRN_000006 Observed in multiple control individuals. /r/Silent point mutation in coding region - - rs63750742 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.(102C>T) - r.(?) p.(=) Unknown g.39782160C>T - - - GRN_000007 Observed in 1 FTD patient, absent in 646 control individuals. /r/Silent point mutation in coding region - - rs63751074 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.(158T>C) - r.(?) p.(Leu53Pro) Unknown 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 - - rs63750481 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 3 c.(163A>T) - r.(?) p.(Arg55Trp) Unknown g.39782344A>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 - - - - - - - - - - - - - - - - - - -
-/? 3 c.(205G>A) - r.(?) p.(Ala69Thr) Unknown 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 3 c.(228C>T) - r.(?) p.(=) Unknown 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.(264G>A) - r.(?) p.(=) Unknown g.39782445G>A - - - GRN_000012 Silent point mutation in coding region - - rs63751166 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 4 c.(267C>T) - r.(?) p.(=) Unknown 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.(313T>C) - r.(?) p.(Cys105Arg) Unknown g.39782609T>C - - - GRN_000014 Point mutation in coding region predicting an amino acid substitution - - rs63750441 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 4 c.(317G>A) - r.(?) p.(Ser106Asn) Unknown g.39782613G>A - - - GRN_000015 Observed in 1 unaffected individual. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750202 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 4 c.(324C>T) - r.(?) p.(=) Unknown g.39782620C>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.(329G>A) - r.(?) p.(Arg110Gln) Unknown g.39782625G>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 - - - - - - - - - - - - - - - - - - -
-/? 5 c.(355_357del) - r.(?) p.(Asn119del) Unknown 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 5 c.(371T>C) - r.(?) p.(Ile124Thr) Unknown g.39783143T>C - - - GRN_000019 Observed in 1 ALS patient, absent in 308 controls. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 5 c.(384T>C) - r.(?) p.(=) Unknown g.39783156T>C - - - GRN_000020 Silent point mutation in coding region - - rs25646 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 5 c.(402G>A) - r.(?) p.(=) Unknown g.39783174G>A - - - GRN_000021 Observed in 2 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 5 c.(414G>A) - r.(?) p.(=) Unknown g.39783186G>A - - - GRN_000022 Observed in 1 ALS patient, absent in 308 controls. /r/Silent point mutation in coding region - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 5 c.(421G>A) - r.(?) p.(Val141Ile) Unknown g.39783193G>A - - - GRN_000023 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63749853 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 6 c.(473G>A) - r.(?) p.(Cys158Tyr) Unknown g.39783346G>A - - - GRN_000024 Observed in 1 unaffected individual. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750163 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 6 c.(507C>G) - r.(?) p.(=) Unknown g.39783380C>G - - - GRN_000025 Observed in 5 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 6 c.(546G>A) - r.(?) p.(=) Unknown g.39783419G>A - - - GRN_000026 Observed in 2 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 7 c.(635G>A) - r.(?) p.(Arg212Gln) Unknown g.39783621G>A - - - GRN_000027 Observed in 1 unaffected individual. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750787 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 7 c.(658A>T) - r.(?) p.(Thr220Ser) Unknown g.39783644A>T - - - GRN_000028 Observed in 1 unaffected individual. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750683 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 7 c.(662G>C) - r.(?) p.(Cys221Ser) Unknown g.39783648G>C - - - GRN_000029 Observed in 1 unaffected asian (China). /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 7 c.(708C>T) - r.(?) p.(=) Unknown g.39783694C>T - - - GRN_000030 Silent point mutation in coding region - - rs63750744 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 8 c.(743C>T) - r.(?) p.(Pro248Leu) Unknown g.39783965C>T - - - GRN_000031 Observed in 1 FTD patient, absent in 646 control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750344 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 8 c.(773G>A) - r.(?) p.(Ser258Asn) Unknown g.39783995G>A - - - GRN_000032 Observed in 1 FTD patient, absent in 646 control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63751000 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 8 c.(781C>A) - r.(?) p.(Leu261Ile) Unknown g.39784003C>A - - - GRN_000033 Observed in 1 AD patient and 1 unaffected individual. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750435 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 8 c.(786C>T) - r.(?) p.(=) Unknown g.39784008C>T - - - GRN_000034 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 8 c.(804G>A) - r.(?) p.(=) Unknown g.39784026G>A - - - GRN_000035 Observed in 1 ALS patient and 1 unaffected individual. /r/Silent point mutation in coding region - - rs63750229 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 9 c.(861G>C) - r.(?) p.(Glu287Asp) Unknown g.39784282G>C - - - GRN_000036 Point mutation in coding region predicting an amino acid substitution - - rs63750565 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 9 c.(903G>A) - r.(?) p.(=) Unknown g.39784324G>A - - - GRN_000037 Observed in 2 FTD patients, 1 ALS patient and 4 unaffected individuals. /r/Silent point mutation in coding region - - rs63750142 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 10 c.(970G>A) - r.(?) p.(Ala324Thr) Unknown g.39784480G>A - - - GRN_000038 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750541 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 10 c.(996G>A) - r.(?) p.(=) Unknown g.39784506G>A - - - GRN_000039 Observed in 1 unaffected individual. /r/Silent point mutation in coding region - - rs63750785 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 10 c.(1126G>A) - r.(?) p.(Asp376Asn) Unknown g.39784636G>A - - - GRN_000040 Observed in 2 African individuals 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 - - - - - - - - - - - - - - - - - - -
-/? 11 c.(1193C>T) - r.(?) p.(Ser398Leu) Unknown g.39784922C>T - - - GRN_000041 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 - - - - - - - - - - - - - - - - - - -
-/? 11 c.(1227G>A) - r.(?) p.(=) Unknown g.39784956G>A - - - GRN_000042 Observed in 2 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"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 11 c.(1241G>T) - r.(?) p.(Gly414Val) Unknown g.39784970G>T - - - GRN_000043 Point mutation in coding region predicting an amino acid substitution - - rs63750920 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 11 c.(1253G>A) - r.(?) p.(Arg418Gln) Unknown g.39784982G>A - - - GRN_000044 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63751100 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 11 c.(1294C>T) - r.(?) p.(Arg432Cys) Unknown g.39785023C>T - - - GRN_000045 Observed in 2 FTD patients, absent in 646 control individuals. Affected cousin of 1 patient also carried the mutation. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750130 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 11 c.(1297C>T) - r.(?) p.(Arg433Trp) Unknown g.39785026C>T - - - GRN_000046 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750412 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 11 c.(1341C>T) - r.(?) p.(=) Unknown g.39785070C>T - - - GRN_000047 Observed in 2 FTD patients and 1 ALS patient. /r/Silent point mutation in coding region - - rs63750775 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 11 c.(1373C>T) - r.(?) p.(Pro458Leu) Unknown g.39785102C>T - - - GRN_000048 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750537 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 11 c.(1409C>T) - r.(?) p.(Pro470Leu) Unknown g.39785138C>T - - - GRN_000049 Observed in 1 unaffected individual. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750007 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 12 c.(1422C>T) - r.(?) p.(=) Unknown g.39785243C>T - - - GRN_000050 Silent point mutation in coding region - - rs63751470 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 12 c.(1425C>T) - r.(?) p.(=) Unknown g.39785246C>T - - - GRN_000051 Observed in 1 unaffected individual. /r/Silent point mutation in coding region - - rs63751104 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 12 c.(1485C>T) - r.(?) p.(=) Unknown g.39785306C>T - - - GRN_000052 Observed in 1 FTD patient, absent in 646 control individuals. /r/Silent point mutation in coding region - - rs63750576 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 12 c.(1515C>T) - r.(?) p.(=) Unknown g.39785336C>T - - - GRN_000053 Observed in 1 Caucasian 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 - - - - - - - - - - - - - - - - - - -
-/? 12 c.(1544G>C) - r.(?) p.(Gly515Ala) Unknown g.39785365G>C - - - GRN_000054 Observed in four African control individuals of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. Corresponds to SNP <a href=""""http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=25647"""" target=""""_bl. /r/Point mutation in coding region predicting an amino acid substitution"" - - rs25647 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 13 c.(1648G>A) - r.(?) p.(Val550Ile) Unknown g.39785558G>A - - - GRN_000055 Observed in 2 unaffected individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750754 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 13 c.(1666C>T) - r.(?) p.(Arg556Cys) Unknown g.39785576C>T - - - GRN_000056 Observed in control individuals. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750116 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 13 c.(1691G>A) - r.(?) p.(Arg564His) Unknown g.39785601G>A - - - GRN_000057 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/Point mutation in coding region predicting an amino acid substitution"" - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 13 c.(1695C>T) - r.(?) p.(=) Unknown g.39785605C>T - - - GRN_000058 Observed in 1 FTD patient, absent in 646 control individuals. Observed in 1 Caucasian 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"" - - rs63751248 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1_2 c.-8+3A>T - r.-8_-7ins3823 0 Unknown g.42422705A>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 g.42422707G>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 g.42422707G>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 g.42422707G>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 g.42422707G>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 g.42422707G>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 g.42422707G>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 g.42422707G>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 g.42422707G>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 g.42422707G>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 g.42422707G>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.-7-89_1645-8del - r.(-7_1644del) p.? Unknown g.42426437_42430021del - - - 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 g.42426533A>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 g.42426534T>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 g.42426534T>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.? Unknown g.42426535G>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 g.42426545G>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 g.42426551T>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 VUS r.(?) p.(Trp7Arg) Unknown g.42426551T>C - GRN(NM_002087.2):c.19T>C (p.W7R) - GRN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.19T>G VUS r.(?) p.(Trp7Gly) Unknown g.42426551T>G - GRN(NM_002087.2):c.19T>G (p.W7G) - GRN_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.22G>A VUS r.(?) p.(Val8Met) Unknown g.42426554G>A - GRN(NM_002087.2):c.22G>A (p.V8M) - FAM171A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22G>A likely benign r.(?) p.(Val8Met) Unknown g.42426554G>A - GRN(NM_002087.2):c.22G>A (p.V8M) - FAM171A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.23T>A likely pathogenic r.(?) p.(Val8Glu) Unknown g.42426555T>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 g.42426558C>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 g.42426558C>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 g.42426558C>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 g.42426558C>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 g.42426558C>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 g.42426574G>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 benign r.(?) p.(=) Unknown g.42426574G>A - GRN(NM_002087.2):c.42G>A (p.L14=) - GRN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.55C>T benign r.(?) p.(Arg19Trp) Unknown g.42426587C>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 g.42426595_42426596insC - - - 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 g.42426595_42426596insC - - - 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 g.42426619_42426622dup - - - 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 g.42426619_42426622dup - - - 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 g.42426619_42426622dup - - - 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 g.42426619_42426622dup - - - 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 g.42426619_42426622dup - - - 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 g.42426619_42426622dup - - - 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 g.42426631C>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 g.42426631C>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
-?/. - c.99C>T likely benign r.(?) p.(=) Unknown g.42426631C>T - GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T likely benign r.(?) p.(=) Unknown g.42426631C>T - GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99C>T benign r.(?) p.(=) Unknown g.42426631C>T - GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99C>T benign r.(?) p.(=) Unknown g.42426631C>T - GRN(NM_002087.2):c.99C>T (p.D33=) - GRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.(102del) - r.(?) p.(Gly35Glufs*19) Unknown g.42426634del - - - 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
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