GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
NM_002087.4(GRN):c.592_593del (p.Arg198fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003766923]|not provided [RCV000518697] |
Chr17:44350571..44350572 [GRCh38] Chr17:42427939..42427940 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1465_1469dup (p.Lys491fs) |
duplication |
not provided [RCV000517701] |
Chr17:44352391..44352392 [GRCh38] Chr17:42429759..42429760 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) |
single nucleotide variant |
GRN-related disorder [RCV004553130]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002527479]|not provided [RCV000517776] |
Chr17:44351688 [GRCh38] Chr17:42429056 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic |
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) |
single nucleotide variant |
GRN-related disorder [RCV004553131]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001404573]|Inborn genetic diseases [RCV002314901]|not specified [RCV000518609] |
Chr17:44352758 [GRCh38] Chr17:42430126 [GRCh37] Chr17:17q21.31 |
benign|likely benign|uncertain significance |
NM_002087.4(GRN):c.53C>T (p.Thr18Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764130]|Inborn genetic diseases [RCV002350151]|not provided [RCV000521954] |
Chr17:44349217 [GRCh38] Chr17:42426585 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.709-1G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000022595]|not provided [RCV004783729] |
Chr17:44351036 [GRCh38] Chr17:42428404 [GRCh37] Chr17:17q21.31 |
pathogenic |
GRN, IVS0DS, G-C, +5 |
single nucleotide variant |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017379] |
Chr17:17q21.32 |
pathogenic |
NM_002087.4(GRN):c.93_96dup (p.Asp33fs) |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017383] |
Chr17:44349253..44349254 [GRCh38] Chr17:42426621..42426622 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.388_391del (p.Gln130fs) |
deletion |
Frontotemporal dementia [RCV000736253]|GRN-related disorder [RCV003478976]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017384]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513074]|not provided [RCV000084442] |
Chr17:44350263..44350266 [GRCh38] Chr17:42427631..42427634 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.835+1G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017385]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513075] |
Chr17:44351164 [GRCh38] Chr17:42428532 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic |
GRN, 1-BP DEL, 998G |
deletion |
Primary progressive aphasia [RCV000017388] |
Chr17:17q21.32 |
pathogenic |
GRN, 1-BP INS, 1145A |
insertion |
Frontotemporal dementia, ubiquitin-positive [RCV000017389] |
Chr17:17q21.32 |
pathogenic |
GRN, IVS7AS, A-G, -2 |
single nucleotide variant |
Primary progressive aphasia [RCV000017390] |
Chr17:17q21.32 |
pathogenic |
GRN, 2-BP DEL, 675CA |
deletion |
Primary progressive aphasia [RCV000017391] |
Chr17:17q21.32 |
pathogenic |
GRN, IVS6AS, A-G, -2 |
single nucleotide variant |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017392] |
Chr17:17q21.32 |
pathogenic |
GRN, 1-BP DEL, 102C |
deletion |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017395] |
Chr17:17q21.32 |
pathogenic |
GRN, 1-BP DEL, 154A |
deletion |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017396] |
Chr17:17q21.32 |
pathogenic |
NM_002087.4(GRN):c.25del (p.Ala9fs) |
deletion |
not provided [RCV001291567] |
Chr17:44349188 [GRCh38] Chr17:42426556 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1087_1088del (p.Asp363fs) |
microsatellite |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000778498] |
Chr17:44351698..44351699 [GRCh38] Chr17:42429066..42429067 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001218285]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003234777]|not provided [RCV000517994] |
Chr17:44351425 [GRCh38] Chr17:42428793 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.933+7del |
deletion |
GRN-related disorder [RCV004553241]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002530207] |
Chr17:44351467 [GRCh38] Chr17:42428835 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1414-2A>G |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000650260]|not provided [RCV000516768] |
Chr17:44352339 [GRCh38] Chr17:42429707 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.3(GRN):c.-56T>G |
single nucleotide variant |
not specified [RCV000517810] |
Chr17:44345286 [GRCh38] Chr17:42422654 [GRCh37] Chr17:17q21.31 |
benign |
NM_002087.4(GRN):c.1578C>T (p.Phe526=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001494180] |
Chr17:44352505 [GRCh38] Chr17:42429873 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.705C>A (p.Pro235=) |
single nucleotide variant |
GRN-related disorder [RCV004553132]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001410336]|Inborn genetic diseases [RCV002367718]|not specified [RCV000517062] |
Chr17:44350797 [GRCh38] Chr17:42428165 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.599-1G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003766924]|not provided [RCV000516967] |
Chr17:44350690 [GRCh38] Chr17:42428058 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic |
NM_002087.4(GRN):c.*78C>T |
single nucleotide variant |
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO [RCV000022594]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000353944]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000650262]|Ischemic stroke [RCV000791344]|not provided [RCV001636606] |
Chr17:44352876 [GRCh38] Chr17:44352876..44352877 [GRCh38] Chr17:42430244 [GRCh37] Chr17:42430244..42430245 [GRCh37] Chr17:17q21.31 |
risk factor|affects|benign |
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017380]|not provided [RCV000084439] |
Chr17:44350251 [GRCh38] Chr17:42427619 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.6G>A (p.Trp2Ter) |
single nucleotide variant |
not provided [RCV000516487] |
Chr17:44349170 [GRCh38] Chr17:42426538 [GRCh37] Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.2T>C (p.Met1Thr) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017381]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513073]|not provided [RCV000084419] |
Chr17:44349166 [GRCh38] Chr17:42426534 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.3G>A (p.Met1Ile) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017382]|not provided [RCV000084420] |
Chr17:44349167 [GRCh38] Chr17:42426535 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017386]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001851887]|not provided [RCV000084421] |
Chr17:44349190 [GRCh38] Chr17:42426558 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) |
single nucleotide variant |
GRN-related disorder [RCV004755740]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017387]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001039647]|not provided [RCV000084491] |
Chr17:44352404 [GRCh38] Chr17:42429772 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.813_816del (p.Thr272fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017393]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001851888]|Neuronal ceroid lipofuscinosis 11 [RCV000029169]|Primary progressive aphasia [RCV000017394]|not provided [RCV000084585] |
Chr17:44351139..44351142 [GRCh38] Chr17:42428507..42428510 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 |
copy number gain |
See cases [RCV000052479] |
Chr17:39199873..45629579 [GRCh38] Chr17:37356126..43706945 [GRCh37] Chr17:34609652..41062728 [NCBI36] Chr17:17q12-21.31 |
pathogenic |
GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1 |
copy number loss |
See cases [RCV000053429] |
Chr17:43570878..44762377 [GRCh38] Chr17:41648246..42839745 [GRCh37] Chr17:39003772..40195271 [NCBI36] Chr17:17q21.31 |
pathogenic |
NM_002087.3(GRN):c.923C>T (p.Pro308Leu) |
single nucleotide variant |
Malignant melanoma [RCV000071508] |
Chr17:44351450 [GRCh38] Chr17:42428818 [GRCh37] Chr17:39784344 [NCBI36] Chr17:17q21.31 |
not provided |
NM_002087.3(GRN):c.467C>T (p.Ser156Phe) |
single nucleotide variant |
Malignant melanoma [RCV000063228] |
Chr17:44350446 [GRCh38] Chr17:42427814 [GRCh37] Chr17:39783340 [NCBI36] Chr17:17q21.31 |
not provided |
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017389]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854478]|not provided [RCV000084472] |
Chr17:44351759..44351760 [GRCh38] Chr17:42429127..42429128 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1395dup (p.Cys466fs) |
duplication |
not provided [RCV000084486] |
Chr17:44352228..44352229 [GRCh38] Chr17:42429596..42429597 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.-8+3A>T |
single nucleotide variant |
not provided [RCV000084417] |
Chr17:44345337 [GRCh38] Chr17:42422705 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.-8+5G>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001089936]|not provided [RCV000084418] |
Chr17:44345339 [GRCh38] Chr17:42422707 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576325]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079864]|Inborn genetic diseases [RCV002311746]|not provided [RCV000084422]|not specified [RCV000246460] |
Chr17:44349219 [GRCh38] Chr17:42426587 [GRCh37] Chr17:17q21.31 |
benign|likely benign|not provided |
NM_002087.4(GRN):c.63_64insC (p.Asp22fs) |
insertion |
not provided [RCV000084423] |
Chr17:44349227..44349228 [GRCh38] Chr17:42426595..42426596 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.87_90dup (p.Cys31fs) |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004786363]|not provided [RCV000084424] |
Chr17:44349248..44349249 [GRCh38] Chr17:42426616..42426617 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.99C>T (p.Asp33=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576806]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001080696]|Inborn genetic diseases [RCV002313838]|not provided [RCV000084425]|not specified [RCV000243797] |
Chr17:44349263 [GRCh38] Chr17:42426631 [GRCh37] Chr17:17q21.31 |
benign|likely benign|not provided |
NM_002087.4(GRN):c.102C>T (p.Pro34=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002055247]|not provided [RCV000084426] |
Chr17:44349266 [GRCh38] Chr17:42426634 [GRCh37] Chr17:17q21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_002087.4(GRN):c.102del (p.Gly35fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001241659]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002281919]|not provided [RCV000084427] |
Chr17:44349263 [GRCh38] Chr17:42426631 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.138+1G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001049316]|not provided [RCV000084428] |
Chr17:44349303 [GRCh38] Chr17:42426671 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.154del (p.Thr52fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002281920]|not provided [RCV000084429] |
Chr17:44349440 [GRCh38] Chr17:42426808 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.158T>C (p.Leu53Pro) |
single nucleotide variant |
not provided [RCV000084430] |
Chr17:44349445 [GRCh38] Chr17:42426813 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.243del (p.Ser82fs) |
deletion |
not provided [RCV000084431] |
Chr17:44349529 [GRCh38] Chr17:42426897 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.264G>A (p.Glu88=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995779]|not provided [RCV000084432] |
Chr17:44349551 [GRCh38] Chr17:42426919 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.279G>A (p.Gly93=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079794]|not provided [RCV000084433] |
Chr17:44349681 [GRCh38] Chr17:42427049 [GRCh37] Chr17:17q21.31 |
likely benign|not provided |
NM_002087.4(GRN):c.313T>C (p.Cys105Arg) |
single nucleotide variant |
not provided [RCV000084434] |
Chr17:44349715 [GRCh38] Chr17:42427083 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.317G>A (p.Ser106Asn) |
single nucleotide variant |
not provided [RCV000084435] |
Chr17:44349719 [GRCh38] Chr17:42427087 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000767861]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001387934]|Neuronal ceroid lipofuscinosis 11 [RCV001291777]|not provided [RCV000084436] |
Chr17:44349730 [GRCh38] Chr17:42427098 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086038]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125933]|Inborn genetic diseases [RCV002453414]|not provided [RCV000084437] |
Chr17:44350237 [GRCh38] Chr17:42427605 [GRCh37] Chr17:17q21.31 |
benign|likely benign|uncertain significance|not provided |
NM_002087.4(GRN):c.361del (p.Val121fs) |
deletion |
not provided [RCV000084438] |
Chr17:44350239 [GRCh38] Chr17:42427607 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.384T>C (p.Asp128=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000280623]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001516285]|Inborn genetic diseases [RCV002311747]|not provided [RCV000084440]|not specified [RCV000251569] |
Chr17:44350262 [GRCh38] Chr17:42427630 [GRCh37] Chr17:17q21.31 |
benign|likely benign|not provided |
NM_002087.4(GRN):c.384_387del (p.Gln130fs) |
deletion |
not provided [RCV000084441] |
Chr17:44350262..44350265 [GRCh38] Chr17:42427630..42427633 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.2(GRN):c.388_391delCAGT (p.Gln130Serfs) |
deletion |
not provided [RCV000084442] |
Chr17:44350266..44350269 [GRCh38] Chr17:42427634..42427637 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.421G>A (p.Val141Ile) |
single nucleotide variant |
GRN-related disorder [RCV004755767]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854474]|Inborn genetic diseases [RCV002326804]|not provided [RCV000084443] |
Chr17:44350299 [GRCh38] Chr17:42427667 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance|not provided |
NM_002087.4(GRN):c.463-1G>A |
single nucleotide variant |
not provided [RCV000084444] |
Chr17:44350441 [GRCh38] Chr17:42427809 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.468_474del (p.Cys157fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514497]|not provided [RCV000084445] |
Chr17:44350447..44350453 [GRCh38] Chr17:42427815..42427821 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr) |
single nucleotide variant |
not provided [RCV000084446]|not specified [RCV003330429] |
Chr17:44350452 [GRCh38] Chr17:42427820 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.545C>T (p.Thr182Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000295460]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001089192]|Inborn genetic diseases [RCV002316278]|not provided [RCV000084447] |
Chr17:44350524 [GRCh38] Chr17:42427892 [GRCh37] Chr17:17q21.31 |
benign|likely benign|not provided |
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) |
single nucleotide variant |
GRN-related disorder [RCV004755768]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000815880]|Inborn genetic diseases [RCV002513901]|not provided [RCV000084448] |
Chr17:44350727 [GRCh38] Chr17:42428095 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.658A>T (p.Thr220Ser) |
single nucleotide variant |
not provided [RCV000084449] |
Chr17:44350750 [GRCh38] Chr17:42428118 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854475]|Inborn genetic diseases [RCV002316279]|not provided [RCV000084450]|not specified [RCV004782053] |
Chr17:44350790 [GRCh38] Chr17:42428158 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.708C>T (p.Asn236=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514498]|not provided [RCV000084451] |
Chr17:44350800 [GRCh38] Chr17:42428168 [GRCh37] Chr17:17q21.31 |
likely benign|not provided |
NM_002087.4(GRN):c.708+1G>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001384760]|not provided [RCV000084452] |
Chr17:44350801 [GRCh38] Chr17:42428169 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.709-2A>G |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000704513]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995784]|Primary progressive aphasia [RCV001824019]|not provided [RCV000084453] |
Chr17:44351035 [GRCh38] Chr17:42428403 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514499]|not provided [RCV000084454] |
Chr17:44351071 [GRCh38] Chr17:42428439 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer) |
microsatellite |
Frontotemporal dementia [RCV000736250]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995785]|not provided [RCV000084455] |
Chr17:44351081..44351082 [GRCh38] Chr17:42428449..42428450 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854476]|not provided [RCV000084456] |
Chr17:44351101 [GRCh38] Chr17:42428469 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.781C>A (p.Leu261Ile) |
single nucleotide variant |
not provided [RCV000084457] |
Chr17:44351109 [GRCh38] Chr17:42428477 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.804G>A (p.Thr268=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513902]|not provided [RCV000084458] |
Chr17:44351132 [GRCh38] Chr17:42428500 [GRCh37] Chr17:17q21.31 |
likely benign|not provided |
NM_002087.4(GRN):c.835_835+1insCTGA |
insertion |
not provided [RCV000084459] |
Chr17:44351163..44351164 [GRCh38] Chr17:42428531..42428532 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.836-1G>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000699101]|not provided [RCV000084460] |
Chr17:44351362 [GRCh38] Chr17:42428730 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.861G>C (p.Glu287Asp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514500]|not provided [RCV000084461] |
Chr17:44351388 [GRCh38] Chr17:42428756 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.903G>A (p.Ser301=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086995]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128036]|Inborn genetic diseases [RCV002316280]|not provided [RCV000084462]|not specified [RCV000516232] |
Chr17:44351430 [GRCh38] Chr17:42428798 [GRCh37] Chr17:17q21.31 |
benign|likely benign|not provided |
NM_002087.4(GRN):c.909del (p.Trp304fs) |
deletion |
not provided [RCV000084463] |
Chr17:44351435 [GRCh38] Chr17:42428803 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.910_911insTG (p.Trp304fs) |
insertion |
not provided [RCV000084464] |
Chr17:44351437..44351438 [GRCh38] Chr17:42428805..42428806 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854477]|not provided [RCV000084465] |
Chr17:44351438 [GRCh38] Chr17:42428806 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.933+1G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000697778]|not provided [RCV000084466] |
Chr17:44351461 [GRCh38] Chr17:42428829 [GRCh37] Chr17:17q21.31 |
likely pathogenic|not provided |
NM_002087.4(GRN):c.942C>A (p.Cys314Ter) |
single nucleotide variant |
not provided [RCV000084467] |
Chr17:44351558 [GRCh38] Chr17:42428926 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) |
single nucleotide variant |
GRN-related disorder [RCV004549523]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000706214]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128038]|Inborn genetic diseases [RCV002381407]|not provided [RCV000084468]|not specified [RCV001727569] |
Chr17:44351586 [GRCh38] Chr17:42428954 [GRCh37] Chr17:17q21.31 |
benign|likely benign|uncertain significance|not provided |
NM_002087.4(GRN):c.996G>A (p.Lys332=) |
single nucleotide variant |
not provided [RCV000084469] |
Chr17:44351612 [GRCh38] Chr17:42428980 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.998del (p.Gly333fs) |
deletion |
Primary progressive aphasia [RCV002281921]|not provided [RCV000084470] |
Chr17:44351612 [GRCh38] Chr17:42428980 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter) |
single nucleotide variant |
not provided [RCV000084471] |
Chr17:44351625 [GRCh38] Chr17:42428993 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1145del (p.Thr382fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001384761]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004786364]|not provided [RCV000084473] |
Chr17:44351761 [GRCh38] Chr17:42429129 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1157G>A (p.Trp386Ter) |
single nucleotide variant |
not provided [RCV000084474] |
Chr17:44351773 [GRCh38] Chr17:42429141 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1176A>C (p.Pro392=) |
single nucleotide variant |
not provided [RCV000084475] |
Chr17:44351792 [GRCh38] Chr17:42429160 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1201C>T (p.Gln401Ter) |
single nucleotide variant |
not provided [RCV000084476] |
Chr17:44352036 [GRCh38] Chr17:42429404 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1231_1232del (p.Val411fs) |
microsatellite |
not provided [RCV000084477] |
Chr17:44352062..44352063 [GRCh38] Chr17:42429430..42429431 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1231_1232dup (p.Val411_Ala412insTer) |
microsatellite |
not provided [RCV000084478] |
Chr17:44352061..44352062 [GRCh38] Chr17:42429429..42429430 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513903]|Inborn genetic diseases [RCV002513904]|not provided [RCV000084479] |
Chr17:44352076 [GRCh38] Chr17:42429444 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance|not provided |
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002463638]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995559]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001390599]|not provided [RCV000084480] |
Chr17:44352087 [GRCh38] Chr17:42429455 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764131]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122276]|Inborn genetic diseases [RCV002514501]|not provided [RCV000084481]|not specified [RCV001705812] |
Chr17:44352088 [GRCh38] Chr17:42429456 [GRCh37] Chr17:17q21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) |
single nucleotide variant |
GRN-related disorder [RCV004755769]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514502]|Inborn genetic diseases [RCV002316281]|not provided [RCV000084482] |
Chr17:44352129 [GRCh38] Chr17:42429497 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576498]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079475]|Inborn genetic diseases [RCV002313839]|not provided [RCV000084483] |
Chr17:44352132 [GRCh38] Chr17:42429500 [GRCh37] Chr17:17q21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_002087.4(GRN):c.1341C>T (p.His447=) |
single nucleotide variant |
GRN-related disorder [RCV004549524]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086557]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122277]|Inborn genetic diseases [RCV002381408]|not provided [RCV000084484] |
Chr17:44352176 [GRCh38] Chr17:42429544 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance|not provided |
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122279]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854479]|not provided [RCV000084485] |
Chr17:44352208 [GRCh38] Chr17:42429576 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989929]|not provided [RCV000084487] |
Chr17:44352237 [GRCh38] Chr17:42429605 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854480]|not provided [RCV000084488] |
Chr17:44352244 [GRCh38] Chr17:42429612 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.1422C>T (p.Cys474=) |
single nucleotide variant |
not provided [RCV000084489] |
Chr17:44352349 [GRCh38] Chr17:42429717 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1425C>T (p.Cys475=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854481]|Inborn genetic diseases [RCV002316282]|not provided [RCV000084490] |
Chr17:44352352 [GRCh38] Chr17:42429720 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance|not provided |
NM_002087.4(GRN):c.1485C>T (p.Cys495=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001459515]|not provided [RCV000084492] |
Chr17:44352412 [GRCh38] Chr17:42429780 [GRCh37] Chr17:17q21.31 |
likely benign|not provided |
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576691]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001083011]|Inborn genetic diseases [RCV002311748]|not provided [RCV000084493]|not specified [RCV001725967] |
Chr17:44352471 [GRCh38] Chr17:42429839 [GRCh37] Chr17:17q21.31 |
benign|likely benign|not provided |
NM_002087.4(GRN):c.1623G>C (p.Trp541Cys) |
single nucleotide variant |
not provided [RCV000084494] |
Chr17:44352550 [GRCh38] Chr17:42429918 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001057131]|not provided [RCV000084495] |
Chr17:44352664 [GRCh38] Chr17:42430032 [GRCh37] Chr17:17q21.31 |
uncertain significance|not provided |
NM_002087.4(GRN):c.1666C>T (p.Arg556Cys) |
single nucleotide variant |
not provided [RCV000084496] |
Chr17:44352682 [GRCh38] Chr17:42430050 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.1695C>T (p.Cys565=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001431378]|not provided [RCV000084497] |
Chr17:44352711 [GRCh38] Chr17:42430079 [GRCh37] Chr17:17q21.31 |
likely benign|not provided |
NM_002087.4(GRN):c.380_381del (p.Pro127fs) |
deletion |
not provided [RCV000084583] |
Chr17:44350258..44350259 [GRCh38] Chr17:42427626..42427627 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.675_676del (p.Ser226fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995782]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001064002]|Primary progressive aphasia [RCV000017391]|not provided [RCV000084584] |
Chr17:44350767..44350768 [GRCh38] Chr17:42428135..42428136 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1095_1096del (p.Pro365_Cys366insTer) |
deletion |
not provided [RCV000084586] |
Chr17:44351711..44351712 [GRCh38] Chr17:42429079..42429080 [GRCh37] Chr17:17q21.31 |
not provided |
NM_002087.4(GRN):c.234_235del (p.Gly79fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003764781]|not provided [RCV000084587] |
Chr17:44349521..44349522 [GRCh38] Chr17:42426889..42426890 [GRCh37] Chr17:17q21.31 |
pathogenic|not provided |
NM_002087.4(GRN):c.1626C>T (p.Ala542=) |
single nucleotide variant |
not provided [RCV000122498] |
Chr17:44352553 [GRCh38] Chr17:42429921 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) |
single nucleotide variant |
GRN-related disorder [RCV004552960]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000873788]|Inborn genetic diseases [RCV002313029]|not specified [RCV000174062] |
Chr17:44352133 [GRCh38] Chr17:42429501 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.42G>A (p.Leu14=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576580]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000874021]|Inborn genetic diseases [RCV002311950]|not provided [RCV001550117] |
Chr17:44349206 [GRCh38] Chr17:42426574 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.264+7G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576305]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086378]|not provided [RCV000513109]|not specified [RCV000177147] |
Chr17:44349558 [GRCh38] Chr17:42426926 [GRCh37] Chr17:17q21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1 |
copy number loss |
See cases [RCV000134949] |
Chr17:43934167..44854025 [GRCh38] Chr17:42011535..42931393 [GRCh37] Chr17:39367061..40286919 [NCBI36] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.462+1G>C |
single nucleotide variant |
Frontotemporal dementia [RCV000185610] |
Chr17:44350341 [GRCh38] Chr17:42427709 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.882T>G (p.Tyr294Ter) |
single nucleotide variant |
Frontotemporal dementia [RCV000185611]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001254078] |
Chr17:44351409 [GRCh38] Chr17:42428777 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1212C>A (p.Cys404Ter) |
single nucleotide variant |
Frontotemporal dementia [RCV000185612] |
Chr17:44352047 [GRCh38] Chr17:42429415 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1246dup (p.Cys416fs) |
duplication |
Frontotemporal dementia [RCV000185613] |
Chr17:44352080..44352081 [GRCh38] Chr17:42429448..42429449 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.87dup (p.Cys30fs) |
duplication |
Frontotemporal dementia [RCV000185614]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001852413] |
Chr17:44349249..44349250 [GRCh38] Chr17:42426617..42426618 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.708+1G>A |
single nucleotide variant |
Frontotemporal dementia [RCV000185615]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000503399]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003765160]|not provided [RCV000513518] |
Chr17:44350801 [GRCh38] Chr17:42428169 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic |
NM_002087.4(GRN):c.835+7G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000544007]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576526]|not provided [RCV000675677]|not specified [RCV000251396] |
Chr17:44351170 [GRCh38] Chr17:42428538 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.546G>A (p.Thr182=) |
single nucleotide variant |
GRN-related disorder [RCV004547632]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576787]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000876309]|Inborn genetic diseases [RCV002311379]|not provided [RCV001731549] |
Chr17:44350525 [GRCh38] Chr17:42427893 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.1227G>A (p.Thr409=) |
single nucleotide variant |
GRN-related disorder [RCV004547631]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576303]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000876310]|Inborn genetic diseases [RCV002311378]|not provided [RCV001550419]|not specified [RCV000242834] |
Chr17:44352062 [GRCh38] Chr17:42429430 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.3(GRN):c.-212G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000272574] |
Chr17:44345130 [GRCh38] Chr17:42422498 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.*280G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000263809]|not provided [RCV001548509] |
Chr17:44353078 [GRCh38] Chr17:42430446 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.3(GRN):c.-72G>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000264312]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001523483]|not provided [RCV003422286]|not specified [RCV000732358] |
Chr17:44345270 [GRCh38] Chr17:42422638 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.1641C>T (p.Arg547=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000267441]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003765880]|Inborn genetic diseases [RCV002402044]|not specified [RCV001660668] |
Chr17:44352568 [GRCh38] Chr17:42429936 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1407G>A (p.Leu469=) |
single nucleotide variant |
not provided [RCV000584933] |
Chr17:44352242 [GRCh38] Chr17:42429610 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1088_1112del (p.Asp363fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004813021] |
Chr17:44351702..44351726 [GRCh38] Chr17:42429070..42429094 [GRCh37] Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.-8+236G>A |
single nucleotide variant |
not provided [RCV002285754] |
Chr17:44345570 [GRCh38] Chr17:42422938 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1468G>A (p.Val490Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000302657]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001215000] |
Chr17:44352395 [GRCh38] Chr17:42429763 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.100C>G (p.Pro34Ala) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000315887]|Inborn genetic diseases [RCV003168477] |
Chr17:44349264 [GRCh38] Chr17:42426632 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1179+6T>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000365450] |
Chr17:44351801 [GRCh38] Chr17:42429169 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.497C>T (p.Pro166Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000402382]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001850729] |
Chr17:44350476 [GRCh38] Chr17:42427844 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1647C>T (p.Gly549=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000317858]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002522981] |
Chr17:44352663 [GRCh38] Chr17:42430031 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.393C>T (p.Phe131=) |
single nucleotide variant |
Frontotemporal dementia [RCV000349606]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002056604] |
Chr17:44350271 [GRCh38] Chr17:42427639 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.3(GRN):c.-45C>G |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000323977]|not provided [RCV000675672]|not specified [RCV001660667] |
Chr17:44345297 [GRCh38] Chr17:42422665 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) |
microsatellite |
Frontotemporal dementia [RCV000310685]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002522980]|Inborn genetic diseases [RCV002317839] |
Chr17:44351734..44351736 [GRCh38] Chr17:42429102..42429104 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.3(GRN):c.-173C>T |
single nucleotide variant |
Frontotemporal dementia [RCV000358975] |
Chr17:44345169 [GRCh38] Chr17:42422537 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.3(GRN):c.-179G>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000327666] |
Chr17:44345163 [GRCh38] Chr17:42422531 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764132]|not provided [RCV000519811] |
Chr17:44352123 [GRCh38] Chr17:42429491 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002481698]|not provided [RCV000523710] |
Chr17:44352187 [GRCh38] Chr17:42429555 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.22G>A (p.Val8Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002477697]|not provided [RCV000729976] |
Chr17:44349186 [GRCh38] Chr17:42426554 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.907del (p.Ala303fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000504273] |
Chr17:44351430 [GRCh38] Chr17:42428798 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002524196]|not specified [RCV000504550] |
Chr17:44352413 [GRCh38] Chr17:42429781 [GRCh37] Chr17:17q21.31 |
pathogenic|uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_002087.4(GRN):c.1438C>T (p.His480Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 11 [RCV000626099]|not provided [RCV004691945] |
Chr17:44352365 [GRCh38] Chr17:42429733 [GRCh37] Chr17:17q21.31 |
likely pathogenic|uncertain significance |
NM_002087.4(GRN):c.8C>T (p.Thr3Ile) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003779907]|Inborn genetic diseases [RCV003284827] |
Chr17:44349172 [GRCh38] Chr17:42426540 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.513C>T (p.Cys171=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000533654]|Inborn genetic diseases [RCV002316578] |
Chr17:44350492 [GRCh38] Chr17:42427860 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002476024]|not provided [RCV000512785] |
Chr17:44351651..44351653 [GRCh38] Chr17:42429019..42429021 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.-14G>C |
single nucleotide variant |
not provided [RCV000675673] |
Chr17:44345328 [GRCh38] Chr17:42422696 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.264+21G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001702546]|Neuronal ceroid lipofuscinosis 11 [RCV001703232]|not provided [RCV000675674] |
Chr17:44349572 [GRCh38] Chr17:42426940 [GRCh37] Chr17:17q21.31 |
benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_002087.4(GRN):c.-8+3A>G |
single nucleotide variant |
not provided [RCV000658784] |
Chr17:44345337 [GRCh38] Chr17:42422705 [GRCh37] Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.462+24G>A |
single nucleotide variant |
not provided [RCV000675675] |
Chr17:44350364 [GRCh38] Chr17:42427732 [GRCh37] Chr17:17q21.31 |
benign |
NM_002087.4(GRN):c.238A>T (p.Thr80Ser) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868346]|Inborn genetic diseases [RCV002314542]|not provided [RCV001766576] |
Chr17:44349525 [GRCh38] Chr17:42426893 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.568A>C (p.Lys190Gln) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862028]|Inborn genetic diseases [RCV002314435] |
Chr17:44350547 [GRCh38] Chr17:42427915 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.157C>G (p.Leu53Val) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862033]|Inborn genetic diseases [RCV002314541]|not provided [RCV001766575] |
Chr17:44349444 [GRCh38] Chr17:42426812 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862013]|Inborn genetic diseases [RCV002312278] |
Chr17:44349704 [GRCh38] Chr17:42427072 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.828G>T (p.Ala276=) |
single nucleotide variant |
not provided [RCV000675676] |
Chr17:44351156 [GRCh38] Chr17:42428524 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.139G>A (p.Asp47Asn) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000689976] |
Chr17:44349426 [GRCh38] Chr17:42426794 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1073_1074dup (p.Ala359fs) |
duplication |
not provided [RCV000712525] |
Chr17:44351688..44351689 [GRCh38] Chr17:42429056..42429057 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001861975]|Inborn genetic diseases [RCV004972913]|not provided [RCV000712526] |
Chr17:44352375 [GRCh38] Chr17:42429743 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.3(GRN):c.-203G>C |
single nucleotide variant |
not provided [RCV000712527] |
Chr17:44345139 [GRCh38] Chr17:42422507 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.-38T>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122181]|not specified [RCV004997237] |
Chr17:44345304 [GRCh38] Chr17:42422672 [GRCh37] Chr17:17q21.31 |
benign |
NM_002087.4(GRN):c.634C>T (p.Arg212Trp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862034]|Inborn genetic diseases [RCV002314573] |
Chr17:44350726 [GRCh38] Chr17:42428094 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1540G>A (p.Val514Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001330687]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862017]|Inborn genetic diseases [RCV002312438]|not provided [RCV002510968] |
Chr17:44352467 [GRCh38] Chr17:42429835 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.808C>T (p.Leu270Phe) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000692383] |
Chr17:44351136 [GRCh38] Chr17:42428504 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.991C>T (p.Gln331Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000690502] |
Chr17:44351607 [GRCh38] Chr17:42428975 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.3(GRN):c.-100A>G |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122180]|not provided [RCV000712524] |
Chr17:44345242 [GRCh38] Chr17:42422610 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.228C>T (p.Thr76=) |
single nucleotide variant |
GRN-related disorder [RCV004547887]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079009]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124957]|Inborn genetic diseases [RCV002442547]|not provided [RCV000712528] |
Chr17:44349515 [GRCh38] Chr17:42426883 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.708+6_708+9del |
microsatellite |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000822240]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003994095]|Inborn genetic diseases [RCV002360847]|not provided [RCV000712530] |
Chr17:44350801..44350804 [GRCh38] Chr17:42428169..42428172 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic|uncertain significance |
NM_002087.4(GRN):c.232dup (p.Ser78fs) |
duplication |
Frontotemporal dementia [RCV000736257]|GRN-related disorder [RCV004547944] |
Chr17:44349518..44349519 [GRCh38] Chr17:42426886..42426887 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic |
NM_002087.4(GRN):c.287A>G (p.His96Arg) |
single nucleotide variant |
GRN-related disorder [RCV004547891]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868342]|Inborn genetic diseases [RCV002312349] |
Chr17:44349689 [GRCh38] Chr17:42427057 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.139-3T>C |
single nucleotide variant |
GRN-related disorder [RCV004547902]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124956]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001207054]|Inborn genetic diseases [RCV002313697]|not provided [RCV001702835] |
Chr17:44349423 [GRCh38] Chr17:42426791 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1180-3C>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868358]|Inborn genetic diseases [RCV002318665] |
Chr17:44352012 [GRCh38] Chr17:42429380 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1555G>A (p.Val519Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001305766]|Inborn genetic diseases [RCV002313574]|not provided [RCV003229857] |
Chr17:44352482 [GRCh38] Chr17:42429850 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000873800]|Inborn genetic diseases [RCV002317979]|not provided [RCV001662791]|not specified [RCV001662792] |
Chr17:44350271 [GRCh38] Chr17:42427639 [GRCh37] Chr17:17q21.31 |
benign|likely benign|uncertain significance |
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002534977]|Inborn genetic diseases [RCV002318156] |
Chr17:44352359 [GRCh38] Chr17:42429727 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.892C>T (p.Arg298Cys) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002533054]|Inborn genetic diseases [RCV002317615] |
Chr17:44351419 [GRCh38] Chr17:42428787 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.803C>T (p.Thr268Met) |
single nucleotide variant |
GRN-related disorder [RCV004756021]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000817892]|Inborn genetic diseases [RCV002318177]|not provided [RCV002473126] |
Chr17:44351131 [GRCh38] Chr17:42428499 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.385dup (p.Ser129fs) |
duplication |
Frontotemporal dementia [RCV000736256] |
Chr17:44350262..44350263 [GRCh38] Chr17:42427630..42427631 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1179G>A (p.Glu393=) |
single nucleotide variant |
Frontotemporal dementia [RCV000736255] |
Chr17:44351795 [GRCh38] Chr17:42429163 [GRCh37] Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.560del (p.Leu187fs) |
deletion |
Frontotemporal dementia [RCV000736254] |
Chr17:44350539 [GRCh38] Chr17:42427907 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.776dup (p.Cys260fs) |
duplication |
Frontotemporal dementia [RCV000736251]|not provided [RCV002292578] |
Chr17:44351102..44351103 [GRCh38] Chr17:42428470..42428471 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.264+1G>A |
single nucleotide variant |
Alzheimer disease [RCV000736249]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001869013] |
Chr17:44349552 [GRCh38] Chr17:42426920 [GRCh37] Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.759_760dup (p.Asp254fs) |
microsatellite |
Frontotemporal dementia [RCV000736248] |
Chr17:44351080..44351081 [GRCh38] Chr17:42428448..42428449 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) |
insertion |
Frontotemporal dementia [RCV000736247] |
Chr17:44350501..44350502 [GRCh38] Chr17:42427869..42427870 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.827C>T (p.Ala276Val) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862050]|Inborn genetic diseases [RCV002315486] |
Chr17:44351155 [GRCh38] Chr17:42428523 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.329G>A (p.Arg110Gln) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002533029]|Inborn genetic diseases [RCV002318116] |
Chr17:44349731 [GRCh38] Chr17:42427099 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1736G>A (p.Arg579His) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000820629]|Inborn genetic diseases [RCV002317530]|not specified [RCV004800558] |
Chr17:44352752 [GRCh38] Chr17:42430120 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1497G>C (p.Val499=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002534975]|Inborn genetic diseases [RCV002317572]|not provided [RCV003884719] |
Chr17:44352424 [GRCh38] Chr17:42429792 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.615G>A (p.Ser205=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862089]|Inborn genetic diseases [RCV002318320] |
Chr17:44350707 [GRCh38] Chr17:42428075 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.415T>C (p.Cys139Arg) |
single nucleotide variant |
GRN-related disorder [RCV004547911]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001212605]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003989589]|Inborn genetic diseases [RCV002318150]|not provided [RCV000996562] |
Chr17:44350293 [GRCh38] Chr17:42427661 [GRCh37] Chr17:17q21.31 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_002087.4(GRN):c.1446C>A (p.Cys482Ter) |
single nucleotide variant |
Frontotemporal dementia [RCV000736252] |
Chr17:44352373 [GRCh38] Chr17:42429741 [GRCh37] Chr17:17q21.31 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NP_002078.1(GRN):p.Ser449_Thr455del |
protein only |
Frontotemporal dementia [RCV000754568] |
Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.1269G>A (p.Val423=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001438175] |
Chr17:44352104 [GRCh38] Chr17:42429472 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.360C>T (p.Ser120=) |
single nucleotide variant |
GRN-related disorder [RCV004551661]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001430492] |
Chr17:44350238 [GRCh38] Chr17:42427606 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) |
single nucleotide variant |
GRN-related disorder [RCV004553533]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002067595]|Inborn genetic diseases [RCV002454237]|not provided [RCV000992526] |
Chr17:44349540 [GRCh38] Chr17:42426908 [GRCh37] Chr17:17q21.31 |
benign|likely benign|uncertain significance |
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989928]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001858715]|not provided [RCV000992528] |
Chr17:44351095..44351096 [GRCh38] Chr17:42428463..42428464 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.690C>T (p.Gly230=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002066355]|Inborn genetic diseases [RCV002372664] |
Chr17:44350782 [GRCh38] Chr17:42428150 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.918C>A (p.Cys306Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995558]|not provided [RCV003886462] |
Chr17:44351445 [GRCh38] Chr17:42428813 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.146G>A (p.Trp49Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995778] |
Chr17:44349433 [GRCh38] Chr17:42426801 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.349+1G>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995780]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001858821] |
Chr17:44349752 [GRCh38] Chr17:42427120 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.424dup (p.Met142fs) |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995781] |
Chr17:44350301..44350302 [GRCh38] Chr17:42427669..42427670 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.709-4_713del |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995783] |
Chr17:44351029..44351037 [GRCh38] Chr17:42428397..42428405 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.229G>A (p.Val77Ile) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000806404]|not provided [RCV003884738]|not specified [RCV002307621] |
Chr17:44349516 [GRCh38] Chr17:42426884 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.708+8A>T |
single nucleotide variant |
GRN-related disorder [RCV004549971]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002064751]|not provided [RCV000874038] |
Chr17:44350808 [GRCh38] Chr17:42428176 [GRCh37] Chr17:17q21.31 |
benign|likely benign |
NM_002087.4(GRN):c.630C>T (p.Asp210=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002065660] |
Chr17:44350722 [GRCh38] Chr17:42428090 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.723C>T (p.Ser241=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000877445]|not provided [RCV001288262] |
Chr17:44351051 [GRCh38] Chr17:42428419 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.891C>T (p.Cys297=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002065481] |
Chr17:44351418 [GRCh38] Chr17:42428786 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.836-3C>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000796769]|not provided [RCV001288263] |
Chr17:44351360 [GRCh38] Chr17:42428728 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1669C>T (p.His557Tyr) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000795069] |
Chr17:44352685 [GRCh38] Chr17:42430053 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.268G>A (p.Val90Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000822374]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124958] |
Chr17:44349670 [GRCh38] Chr17:42427038 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.250T>C (p.Cys84Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000800052] |
Chr17:44349537 [GRCh38] Chr17:42426905 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001869374]|Inborn genetic diseases [RCV002550640]|not provided [RCV000992525] |
Chr17:44351728 [GRCh38] Chr17:42429096 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.8C>G (p.Thr3Ser) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000811134] |
Chr17:44349172 [GRCh38] Chr17:42426540 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002064867]|Inborn genetic diseases [RCV002444966] |
Chr17:44351742 [GRCh38] Chr17:42429110 [GRCh37] Chr17:17q21.31 |
likely benign |
NC_000017.11:g.44349572G>A |
single nucleotide variant |
not provided [RCV000843594] |
Chr17:42426940 [GRCh37] Chr17:17q21.31 |
benign |
NC_000017.11:g.44350364G>A |
single nucleotide variant |
not provided [RCV000843598] |
Chr17:42427732 [GRCh37] Chr17:17q21.31 |
benign |
NM_002087.4(GRN):c.442G>A (p.Gly148Arg) |
single nucleotide variant |
GRN-related disorder [RCV004756041]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000799711]|Inborn genetic diseases [RCV002332623]|not provided [RCV003318639] |
Chr17:44350320 [GRCh38] Chr17:42427688 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002550639]|not provided [RCV000992524] |
Chr17:44351626..44351627 [GRCh38] Chr17:42428994..42428995 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic |
NM_002087.4(GRN):c.928A>C (p.Thr310Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004973233]|not provided [RCV000992529] |
Chr17:44351455 [GRCh38] Chr17:42428823 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001215304] |
Chr17:44350733 [GRCh38] Chr17:42428101 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.383_386del (p.Asp128fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001220665]|not provided [RCV001751423] |
Chr17:44350260..44350263 [GRCh38] Chr17:42427628..42427631 [GRCh37] Chr17:17q21.31 |
pathogenic|likely pathogenic |
NM_002087.4(GRN):c.662G>C (p.Cys221Ser) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001204178]|Neuronal ceroid lipofuscinosis 11 [RCV004720297] |
Chr17:44350754 [GRCh38] Chr17:42428122 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.7A>G (p.Thr3Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis 11 [RCV001197111] |
Chr17:44349171 [GRCh38] Chr17:42426539 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.57G>T (p.Arg19=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124954]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002556706] |
Chr17:44349221 [GRCh38] Chr17:42426589 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124955]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001242925]|not provided [RCV001593285] |
Chr17:44349263 [GRCh38] Chr17:42426631 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.835+14G>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128035] |
Chr17:44351177 [GRCh38] Chr17:42428545 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1180-8C>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128040] |
Chr17:44352007 [GRCh38] Chr17:42429375 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1180-8C>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128041]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003769226] |
Chr17:44352007 [GRCh38] Chr17:42429375 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122278]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001294896] |
Chr17:44352192 [GRCh38] Chr17:42429560 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1518C>T (p.Thr506=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122280]|not provided [RCV003425938] |
Chr17:44352445 [GRCh38] Chr17:42429813 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1521C>T (p.Phe507=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122281]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002556633] |
Chr17:44352448 [GRCh38] Chr17:42429816 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
GRN-related disorder [RCV004548005]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125934]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001472771]|Inborn genetic diseases [RCV002365805] |
Chr17:44350718 [GRCh38] Chr17:42428086 [GRCh37] Chr17:17q21.31 |
benign|likely benign|uncertain significance |
NM_002087.4(GRN):c.1645-40C>T |
single nucleotide variant |
not provided [RCV001585417] |
Chr17:44352621 [GRCh38] Chr17:42429989 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.-7-75A>G |
single nucleotide variant |
not provided [RCV001561128] |
Chr17:44349083 [GRCh38] Chr17:42426451 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1449G>A (p.Pro483=) |
single nucleotide variant |
GRN-related disorder [RCV004756130]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002066325]|not provided [RCV004705961] |
Chr17:44352376 [GRCh38] Chr17:42429744 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1071A>T (p.Pro357=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002540059] |
Chr17:44351687 [GRCh38] Chr17:42429055 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1212C>T (p.Cys404=) |
single nucleotide variant |
not provided [RCV000908271] |
Chr17:44352047 [GRCh38] Chr17:42429415 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.*273C>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001126034] |
Chr17:44353071 [GRCh38] Chr17:42430439 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.170T>G (p.Leu57Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001041583] |
Chr17:44349457 [GRCh38] Chr17:42426825 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.-8+3A>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122183] |
Chr17:44345337 [GRCh38] Chr17:42422705 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.933+15C>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128037]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001856671] |
Chr17:44351475 [GRCh38] Chr17:42428843 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1019A>T (p.His340Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128039]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001856672]|Inborn genetic diseases [RCV002365806] |
Chr17:44351635 [GRCh38] Chr17:42429003 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NC_000017.11:g.(?_44027807)_(44352876_?)dup |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001032594] |
Chr17:42105175..42430244 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.745C>T (p.Gln249Ter) |
single nucleotide variant |
not provided [RCV000992527] |
Chr17:44351073 [GRCh38] Chr17:42428441 [GRCh37] Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.933+7A>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000933973]|not provided [RCV004704340] |
Chr17:44351467 [GRCh38] Chr17:42428835 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1146G>A (p.Thr382=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001398870]|not provided [RCV004808967] |
Chr17:44351762 [GRCh38] Chr17:42429130 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.54G>A (p.Thr18=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002542302]|not provided [RCV000935535] |
Chr17:44349218 [GRCh38] Chr17:42426586 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.350-50_350-47dup |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989927]|not provided [RCV001619874] |
Chr17:44350176..44350177 [GRCh38] Chr17:42427544..42427545 [GRCh37] Chr17:17q21.31 |
benign |
NM_002087.4(GRN):c.52A>G (p.Thr18Ala) |
single nucleotide variant |
Parkinsonian disorder [RCV002251715] |
Chr17:44349216 [GRCh38] Chr17:42426584 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.349+32G>C |
single nucleotide variant |
not provided [RCV001556123] |
Chr17:44349783 [GRCh38] Chr17:42427151 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.-8+50dup |
duplication |
not provided [RCV001608363] |
Chr17:44345383..44345384 [GRCh38] Chr17:42422751..42422752 [GRCh37] Chr17:17q21.31 |
benign |
NM_002087.4(GRN):c.*246A>G |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001126033] |
Chr17:44353044 [GRCh38] Chr17:42430412 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.709-12G>C |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125935]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002070054]|not provided [RCV001579636] |
Chr17:44351025 [GRCh38] Chr17:42428393 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001222859] |
Chr17:44352437 [GRCh38] Chr17:42429805 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1179+4_1179+8del |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001069975] |
Chr17:44351799..44351803 [GRCh38] Chr17:42429167..42429171 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1226C>T (p.Thr409Met) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001071688] |
Chr17:44352061 [GRCh38] Chr17:42429429 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.349+6G>A |
single nucleotide variant |
not provided [RCV001200223] |
Chr17:44349757 [GRCh38] Chr17:42427125 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1548G>T (p.Val516=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125057]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002556711] |
Chr17:44352475 [GRCh38] Chr17:42429843 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.-22C>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122182] |
Chr17:44345320 [GRCh38] Chr17:42422688 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001204370]|Inborn genetic diseases [RCV002339512]|not provided [RCV003413991] |
Chr17:44352028 [GRCh38] Chr17:42429396 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.507C>G (p.Ala169=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001218441] |
Chr17:44350486 [GRCh38] Chr17:42427854 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125058] |
Chr17:44352487 [GRCh38] Chr17:42429855 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.*12G>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125059] |
Chr17:44352810 [GRCh38] Chr17:42430178 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.*30G>A |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125060] |
Chr17:44352828 [GRCh38] Chr17:42430196 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.559dup (p.Leu187fs) |
duplication |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001262996] |
Chr17:44350533..44350534 [GRCh38] Chr17:42427901..42427902 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.350G>A (p.Gly117Asp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001319865] |
Chr17:44350228 [GRCh38] Chr17:42427596 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1420_1421del (p.Cys474fs) |
microsatellite |
not provided [RCV001289125] |
Chr17:44352343..44352344 [GRCh38] Chr17:42429711..42429712 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.58T>C (p.Cys20Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001318543]|Inborn genetic diseases [RCV004978315] |
Chr17:44349222 [GRCh38] Chr17:42426590 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.836-8C>T |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001422935]|not specified [RCV004699373] |
Chr17:44351355 [GRCh38] Chr17:42428723 [GRCh37] Chr17:17q21.31 |
likely benign|uncertain significance |
NM_002087.4(GRN):c.100C>T (p.Pro34Ser) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001360798] |
Chr17:44349264 [GRCh38] Chr17:42426632 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1721G>A (p.Arg574His) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001307094]|Inborn genetic diseases [RCV002411982]|not provided [RCV004809558] |
Chr17:44352737 [GRCh38] Chr17:42430105 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001324969] |
Chr17:44352679 [GRCh38] Chr17:42430047 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001367112] |
Chr17:44351754 [GRCh38] Chr17:42429122 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.38G>C (p.Gly13Ala) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001330880] |
Chr17:44349202 [GRCh38] Chr17:42426570 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1691G>A (p.Arg564His) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002564193]|not provided [RCV001507391] |
Chr17:44352707 [GRCh38] Chr17:42430075 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.299del (p.Pro100fs) |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001389661] |
Chr17:44349699 [GRCh38] Chr17:42427067 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1743C>T (p.Asp581=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001475974] |
Chr17:44352759 [GRCh38] Chr17:42430127 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.501C>T (p.His167=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001405589] |
Chr17:44350480 [GRCh38] Chr17:42427848 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.-7-320C>G |
single nucleotide variant |
not provided [RCV001643496] |
Chr17:44348838 [GRCh38] Chr17:42426206 [GRCh37] Chr17:17q21.31 |
benign |
NM_002087.4(GRN):c.78C>A (p.Cys26Ter) |
single nucleotide variant |
not provided [RCV001543435] |
Chr17:44349242 [GRCh38] Chr17:42426610 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.934-8del |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001440420] |
Chr17:44351542 [GRCh38] Chr17:42428910 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.1496del (p.Val499fs) |
deletion |
not provided [RCV001531263] |
Chr17:44352423 [GRCh38] Chr17:42429791 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.276C>T (p.Cys92=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002070434]|Inborn genetic diseases [RCV002440824]|not provided [RCV001585365] |
Chr17:44349678 [GRCh38] Chr17:42427046 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.321A>C (p.Ala107=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001498903] |
Chr17:44349723 [GRCh38] Chr17:42427091 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.614C>A (p.Ser205Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001384779] |
Chr17:44350706 [GRCh38] Chr17:42428074 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.599-54G>A |
single nucleotide variant |
not provided [RCV001732701] |
Chr17:44350637 [GRCh38] Chr17:42428005 [GRCh37] Chr17:17q21.31 |
likely benign |
NM_002087.4(GRN):c.740G>A (p.Cys247Tyr) |
single nucleotide variant |
not provided [RCV001756614] |
Chr17:44351068 [GRCh38] Chr17:42428436 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr) |
single nucleotide variant |
GRN-related disorder [RCV004551998]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001861050]|not provided [RCV001756615] |
Chr17:44352489 [GRCh38] Chr17:42429857 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.463-1G>C |
single nucleotide variant |
not provided [RCV001783404] |
Chr17:44350441 [GRCh38] Chr17:42427809 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1636T>C (p.Tyr546His) |
single nucleotide variant |
not provided [RCV001763871] |
Chr17:44352563 [GRCh38] Chr17:42429931 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.280G>A (p.Asp94Asn) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868448]|not provided [RCV001765556] |
Chr17:44349682 [GRCh38] Chr17:42427050 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868892]|not provided [RCV001794715] |
Chr17:44349541 [GRCh38] Chr17:42426909 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1216del (p.Gln406fs) |
deletion |
not provided [RCV001816204] |
Chr17:44352047 [GRCh38] Chr17:42429415 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.139-2A>G |
single nucleotide variant |
not provided [RCV001782236] |
Chr17:44349424 [GRCh38] Chr17:42426792 [GRCh37] Chr17:17q21.31 |
likely pathogenic |
NM_002087.4(GRN):c.1498G>A (p.Val500Ile) |
single nucleotide variant |
not provided [RCV004798200] |
Chr17:44352425 [GRCh38] Chr17:42429793 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.530G>A (p.Arg177His) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001907975] |
Chr17:44350509 [GRCh38] Chr17:42427877 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1672_1673delinsGA (p.Cys558Asp) |
indel |
not provided [RCV002224092]|not specified [RCV001815073] |
Chr17:44352688..44352689 [GRCh38] Chr17:42430056..42430057 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.463-5C>G |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001914518] |
Chr17:44350437 [GRCh38] Chr17:42427805 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001971271] |
Chr17:44352208 [GRCh38] Chr17:42429576 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001970022] |
Chr17:44352051 [GRCh38] Chr17:42429419 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001970521] |
Chr17:44352079 [GRCh38] Chr17:42429447 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.325G>A (p.Gly109Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001895773] |
Chr17:44349727 [GRCh38] Chr17:42427095 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.701T>G (p.Met234Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001926942] |
Chr17:44350793 [GRCh38] Chr17:42428161 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.301C>T (p.Arg101Trp) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002020554] |
Chr17:44349703 [GRCh38] Chr17:42427071 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001986104]|Inborn genetic diseases [RCV004045330] |
Chr17:44352728 [GRCh38] Chr17:42430096 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.658A>G (p.Thr220Ala) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002022155] |
Chr17:44350750 [GRCh38] Chr17:42428118 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.627G>A (p.Pro209=) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021371] |
Chr17:44350719 [GRCh38] Chr17:42428087 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021709]|Inborn genetic diseases [RCV002391132] |
Chr17:44352441 [GRCh38] Chr17:42429809 [GRCh37] Chr17:17q21.31 |
uncertain significance |
NC_000017.10:g.(?_42426434)_(42430018_?)del |
deletion |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001949399] |
Chr17:42426434..42430018 [GRCh37] Chr17:17q21.31 |
pathogenic |
NM_002087.4(GRN):c.529C>T (p.Arg177Cys) |
single nucleotide variant |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021418] |
Chr17:44350508 [GRCh38] Chr17:42427876 [GRCh37] Chr17:17q21.31 |
uncertain significance |