| NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter) |
duplication |
Amyotrophic lateral sclerosis type 10 [RCV000020660]|TARDBP-related condition [RCV003415726] |
Chr1:11022529..11022530 [GRCh38]
Chr1:11082586..11082587 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance|not provided |
| NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005539]|Amyotrophic lateral sclerosis type 10 [RCV000693006]|not provided [RCV001090806] |
Chr1:11022418 [GRCh38]
Chr1:11082475 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005540] |
Chr1:11022400 [GRCh38]
Chr1:11082457 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.881G>C (p.Gly294Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005541]|Inborn genetic diseases [RCV002371764] |
Chr1:11022290 [GRCh38]
Chr1:11082347 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005542]|Amyotrophic lateral sclerosis type 10 [RCV001054737] |
Chr1:11022278 [GRCh38]
Chr1:11082335 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005543]|Amyotrophic lateral sclerosis type 10 [RCV001851670]|not provided [RCV000713825] |
Chr1:11022301 [GRCh38]
Chr1:11082358 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic |
| NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005544] |
Chr1:11018836 [GRCh38]
Chr1:11078893 [GRCh37]
Chr1:1p36.22 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005545]|Amyotrophic lateral sclerosis type 10 [RCV001851671]|not provided [RCV000516886] |
Chr1:11022451 [GRCh38]
Chr1:11082508 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic |
| NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005546] |
Chr1:11022437 [GRCh38]
Chr1:11082494 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005547]|Amyotrophic lateral sclerosis type 10 [RCV001384596] |
Chr1:11022352 [GRCh38]
Chr1:11082409 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu) |
single nucleotide variant |
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED [RCV000005549] |
Chr1:11022196 [GRCh38]
Chr1:11082253 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.*697G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000005550]|Amyotrophic lateral sclerosis type 10 [RCV002512811]|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED [RCV000005551] |
Chr1:11023351 [GRCh38]
Chr1:11083408 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.*83T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020654] |
Chr1:11022737 [GRCh38]
Chr1:11082794 [GRCh37]
Chr1:1p36.22 |
pathogenic|not provided |
| NM_007375.3(TARDBP):c.1004G>A (p.Gly335Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020655] |
Chr1:11022413 [GRCh38]
Chr1:11082470 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000703167] |
Chr1:11022444 [GRCh38]
Chr1:11082501 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020657]|Amyotrophic lateral sclerosis type 10 [RCV001851975]|not provided [RCV000993301] |
Chr1:11022464 [GRCh38]
Chr1:11082521 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic|not provided |
| NM_007375.3(TARDBP):c.1083G>T (p.Arg361Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020658] |
Chr1:11022492 [GRCh38]
Chr1:11082549 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.3(TARDBP):c.1097C>G (p.Ala366Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020659] |
Chr1:11022506 [GRCh38]
Chr1:11082563 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.3(TARDBP):c.1135T>C (p.Ser379Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020661] |
Chr1:11022544 [GRCh38]
Chr1:11082601 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.3(TARDBP):c.1136C>G (p.Ser379Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020662] |
Chr1:11022545 [GRCh38]
Chr1:11082602 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020663]|Amyotrophic lateral sclerosis type 10 [RCV002513146]|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED [RCV000106321]|TARDBP-related condition [RCV003944833]|not provided [RCV000413910] |
Chr1:11022553 [GRCh38]
Chr1:11082610 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic |
| NM_007375.3(TARDBP):c.1144G>C (p.Ala382Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020664] |
Chr1:11022553 [GRCh38]
Chr1:11082610 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000995885]|Amyotrophic lateral sclerosis type 10 [RCV001851976]|See cases [RCV002251918]|not provided [RCV001579671] |
Chr1:11022556 [GRCh38]
Chr1:11082613 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic |
| NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003764614]|TARDBP-related condition [RCV003407351]|not provided [RCV001570554] |
Chr1:11022577 [GRCh38]
Chr1:11082634 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001861034]|Inborn genetic diseases [RCV002329720]|not provided [RCV001732914] |
Chr1:11022578 [GRCh38]
Chr1:11082635 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely benign|uncertain significance |
| NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002648124] |
Chr1:11022587 [GRCh38]
Chr1:11082644 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.3(TARDBP):c.195T>A (p.Asp65Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020669] |
Chr1:11013922 [GRCh38]
Chr1:11073979 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020670]|Amyotrophic lateral sclerosis type 10 [RCV000821536]|Inborn genetic diseases [RCV002426513]|TARDBP-related condition [RCV003924849]|not provided [RCV001311624] |
Chr1:11016874 [GRCh38]
Chr1:11076931 [GRCh37]
Chr1:1p36.22 |
benign|likely benign|uncertain significance |
| NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020671]|Amyotrophic lateral sclerosis type 10 [RCV001851977]|Frontotemporal lobar degeneration, TARDBP-related [RCV002051795]|Inborn genetic diseases [RCV003242964]|TARDBP-related condition [RCV003904854] |
Chr1:11022209 [GRCh38]
Chr1:11082266 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020672]|Amyotrophic lateral sclerosis type 10 [RCV000529539]|Motor neuron disease [RCV000492328]|not provided [RCV000412864] |
Chr1:11022268 [GRCh38]
Chr1:11082325 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020673]|Amyotrophic lateral sclerosis type 10 [RCV001390939]|not provided [RCV002472934] |
Chr1:11022290 [GRCh38]
Chr1:11082347 [GRCh37]
Chr1:1p36.22 |
pathogenic|not provided |
| NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000020674]|Amyotrophic lateral sclerosis type 10 [RCV003764615] |
Chr1:11022292 [GRCh38]
Chr1:11082349 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002569399]|not provided [RCV002474373] |
Chr1:11022292 [GRCh38]
Chr1:11082349 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.931A>G (p.Met311Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000694078]|Amyotrophic lateral sclerosis type 10 [RCV003334377]|not provided [RCV003311663] |
Chr1:11022340 [GRCh38]
Chr1:11082397 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001997114] |
Chr1:11022404 [GRCh38]
Chr1:11082461 [GRCh37]
Chr1:1p36.22 |
pathogenic|uncertain significance |
| NM_007375.3(TARDBP):c.859G>C (p.Gly287Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000032100] |
Chr1:11022268 [GRCh38]
Chr1:11082325 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3 |
copy number gain |
See cases [RCV000051459] |
Chr1:10637036..11293430 [GRCh38]
Chr1:10697093..11353487 [GRCh37]
Chr1:10619680..11276074 [NCBI36]
Chr1:1p36.22 |
uncertain significance |
| GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 |
copy number gain |
See cases [RCV000051794] |
Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21 |
pathogenic |
| GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] |
Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13 |
pathogenic |
| GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] |
Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 |
copy number loss |
See cases [RCV000053714] |
Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13 |
pathogenic |
| GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] |
Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22 |
pathogenic |
| GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 |
copy number loss |
See cases [RCV000053724] |
Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 |
copy number loss |
See cases [RCV000053760] |
Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12 |
pathogenic |
| GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 |
copy number loss |
See cases [RCV000053763] |
Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13 |
pathogenic |
| GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 |
copy number loss |
See cases [RCV000053765] |
Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13 |
pathogenic |
| GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 |
copy number loss |
See cases [RCV000053755] |
Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21 |
pathogenic |
| GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 |
copy number loss |
See cases [RCV000053756] |
Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13 |
pathogenic |
| GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] |
Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21 |
pathogenic |
| GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1 |
copy number loss |
See cases [RCV000053758] |
Chr1:10203955..12060262 [GRCh38]
Chr1:10264013..12120319 [GRCh37]
Chr1:10186600..12042906 [NCBI36]
Chr1:1p36.22 |
pathogenic |
| NM_007375.3(TARDBP):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Malignant melanoma [RCV000064005] |
Chr1:11022368 [GRCh38]
Chr1:11082425 [GRCh37]
Chr1:11005012 [NCBI36]
Chr1:1p36.22 |
not provided |
| NM_006610.3(MASP2):c.1645A>T (p.Thr549Ser) |
single nucleotide variant |
Malignant melanoma [RCV000059831] |
Chr1:11027301 [GRCh38]
Chr1:11087358 [GRCh37]
Chr1:11009945 [NCBI36]
Chr1:1p36.22 |
not provided |
| GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 |
copy number loss |
See cases [RCV000133779] |
Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21 |
pathogenic |
| GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 |
copy number loss |
See cases [RCV000135807] |
Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22 |
pathogenic |
| GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 |
copy number loss |
See cases [RCV000136695] |
Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22 |
pathogenic|likely pathogenic |
| GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 |
copy number loss |
See cases [RCV000137461] |
Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 |
copy number loss |
See cases [RCV000137948] |
Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21 |
pathogenic|likely benign |
| GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 |
copy number loss |
See cases [RCV000140873] |
Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21 |
pathogenic |
| GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4 |
copy number gain |
See cases [RCV000141822] |
Chr1:10317912..11018880 [GRCh38]
Chr1:10377970..11078937 [GRCh37]
Chr1:10300557..11001524 [NCBI36]
Chr1:1p36.22 |
uncertain significance |
| GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 |
copy number gain |
See cases [RCV000141823] |
Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21 |
likely pathogenic |
| GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 |
copy number loss |
See cases [RCV000141438] |
Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21 |
pathogenic |
| GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 |
copy number gain |
See cases [RCV000142906] |
Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13 |
pathogenic |
| GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 |
copy number loss |
See cases [RCV000142771] |
Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13 |
pathogenic |
| NM_007375.4(TARDBP):c.*2252A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000262134] |
Chr1:11024906 [GRCh38]
Chr1:11084963 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000392664]|Amyotrophic lateral sclerosis type 10 [RCV000875373]|Amyotrophic lateral sclerosis type 10 [RCV001096237]|Frontotemporal dementia [RCV000353305]|Inborn genetic diseases [RCV002450837]|not provided [RCV003422211]|not specified [RCV000518153] |
Chr1:11022507 [GRCh38]
Chr1:11082564 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000192195]|Amyotrophic lateral sclerosis type 10 [RCV000795453]|not provided [RCV000713823] |
Chr1:11022559 [GRCh38]
Chr1:11082616 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000192196] |
Chr1:11022562 [GRCh38]
Chr1:11082619 [GRCh37]
Chr1:1p36.22 |
pathogenic|not provided |
| NM_007375.4(TARDBP):c.720G>A (p.Ala240=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000298294]|Amyotrophic lateral sclerosis type 10 [RCV002059321] |
Chr1:11022129 [GRCh38]
Chr1:11082186 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000276598] |
Chr1:11027219 [GRCh38]
Chr1:11087276 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.239-15G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000381213]|Amyotrophic lateral sclerosis type 10 [RCV002059320]|not provided [RCV001795488] |
Chr1:11016829 [GRCh38]
Chr1:11076886 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000375543]|not provided [RCV000964365] |
Chr1:11030230 [GRCh38]
Chr1:11090287 [GRCh37]
Chr1:1p36.22 |
benign|uncertain significance |
| Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11 |
uncertain significance |
| chr1:909238-16736132 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207094] |
Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13 |
uncertain significance |
| NM_006610.4(MASP2):c.1316G>A (p.Arg439His) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000318612]|not provided [RCV000961253] |
Chr1:11027630 [GRCh38]
Chr1:11087687 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_007375.4(TARDBP):c.198T>C (p.Ala66=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000625045]|Amyotrophic lateral sclerosis type 10 [RCV000646151]|Inborn genetic diseases [RCV002418140]|not provided [RCV001668630]|not specified [RCV000516412] |
Chr1:11013925 [GRCh38]
Chr1:11073982 [GRCh37]
Chr1:1p36.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_007375.4(TARDBP):c.238+9C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000326560]|Amyotrophic lateral sclerosis type 10 [RCV001078891]|not provided [RCV000951658] |
Chr1:11013974 [GRCh38]
Chr1:11074031 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_007375.4(TARDBP):c.675A>G (p.Pro225=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000338255]|Amyotrophic lateral sclerosis type 10 [RCV000873994]|Inborn genetic diseases [RCV002374491]|not provided [RCV001545890] |
Chr1:11020560 [GRCh38]
Chr1:11080617 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 |
copy number loss |
See cases [RCV000239416] |
Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.*1623T>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000285942] |
Chr1:11024277 [GRCh38]
Chr1:11084334 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_007375.4(TARDBP):c.*666G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000281380] |
Chr1:11023320 [GRCh38]
Chr1:11083377 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1731A>C (p.Gln577His) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000364354]|not provided [RCV000971098] |
Chr1:11027215 [GRCh38]
Chr1:11087272 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 |
copy number loss |
See cases [RCV000240403] |
Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21 |
pathogenic |
| GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 |
copy number gain |
See cases [RCV000240284] |
Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21 |
likely pathogenic |
| NM_006610.4(MASP2):c.*171A>C |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000273230] |
Chr1:11026714 [GRCh38]
Chr1:11086771 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2750G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000396663] |
Chr1:11025404 [GRCh38]
Chr1:11085461 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2773A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000398843] |
Chr1:11025427 [GRCh38]
Chr1:11085484 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*219C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000301588] |
Chr1:11026666 [GRCh38]
Chr1:11086723 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*963C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000400938] |
Chr1:11023617 [GRCh38]
Chr1:11083674 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*1622A>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000319698] |
Chr1:11024276 [GRCh38]
Chr1:11084333 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*208G>A |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000364084]|Amyotrophic lateral sclerosis type 10 [RCV001097985]|Frontotemporal dementia [RCV000269531]|not provided [RCV001555101] |
Chr1:11022862 [GRCh38]
Chr1:11082919 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_007375.4(TARDBP):c.*1081C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000308344] |
Chr1:11023735 [GRCh38]
Chr1:11083792 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.*189G>A |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000365495] |
Chr1:11026696 [GRCh38]
Chr1:11086753 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*214T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000388370] |
Chr1:11022868 [GRCh38]
Chr1:11082925 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*1008T>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000366619] |
Chr1:11023662 [GRCh38]
Chr1:11083719 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.3(TARDBP):c.-110C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000367571] |
Chr1:11012646 [GRCh38]
Chr1:11072703 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_007375.4(TARDBP):c.*2740G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000295354] |
Chr1:11025394 [GRCh38]
Chr1:11085451 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_007375.4(TARDBP):c.*2334G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000329064] |
Chr1:11024988 [GRCh38]
Chr1:11085045 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.-42C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000259969] |
Chr1:11012714 [GRCh38]
Chr1:11072771 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*1633del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000261200]|Frontotemporal dementia [RCV000316450] |
Chr1:11024277 [GRCh38]
Chr1:11084334 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*159A>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000327850] |
Chr1:11022813 [GRCh38]
Chr1:11082870 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*1597_*1600del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000274024]|Frontotemporal dementia [RCV000368674] |
Chr1:11024249..11024252 [GRCh38]
Chr1:11084306..11084309 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.-12-10_-12-9del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000265462]|Frontotemporal dementia [RCV000360165] |
Chr1:11013704..11013705 [GRCh38]
Chr1:11073761..11073762 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.*1084A>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000277861] |
Chr1:11023738 [GRCh38]
Chr1:11083795 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2029C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000390275] |
Chr1:11024683 [GRCh38]
Chr1:11084740 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2331A>G |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000377600]|Amyotrophic lateral sclerosis type 10 [RCV001098078]|Frontotemporal dementia [RCV000322945]|Immunodeficiency due to MASP-2 deficiency [RCV000309062] |
Chr1:11024985 [GRCh38]
Chr1:11085042 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_007375.4(TARDBP):c.*129T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000358284] |
Chr1:11022783 [GRCh38]
Chr1:11082840 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*184C>T |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000369417]|Frontotemporal dementia [RCV000314809]|Immunodeficiency due to MASP-2 deficiency [RCV001101863] |
Chr1:11026701 [GRCh38]
Chr1:11086758 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.*505del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000294216]|Frontotemporal dementia [RCV000330501] |
Chr1:11023156 [GRCh38]
Chr1:11083213 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1590C>T (p.Asp530=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000386253] |
Chr1:11027356 [GRCh38]
Chr1:11087413 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.3(TARDBP):c.-126G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000390128] |
Chr1:11012630 [GRCh38]
Chr1:11072687 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2046T>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000401360] |
Chr1:11024700 [GRCh38]
Chr1:11084757 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.499A>G (p.Met167Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000400226] |
Chr1:11018829 [GRCh38]
Chr1:11078886 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*842G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000336489] |
Chr1:11023496 [GRCh38]
Chr1:11083553 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1617T>C (p.Asn539=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000260724]|Frontotemporal dementia [RCV000316368]|Immunodeficiency due to MASP-2 deficiency [RCV000333994]|not provided [RCV000963738] |
Chr1:11027329 [GRCh38]
Chr1:11087386 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.*225T>C |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000368372]|Frontotemporal dementia [RCV000400242]|Immunodeficiency due to MASP-2 deficiency [RCV000392886] |
Chr1:11026660 [GRCh38]
Chr1:11086717 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.3(TARDBP):c.-122G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099681]|Amyotrophic lateral sclerosis type 10 [RCV001512430] |
Chr1:11012634 [GRCh38]
Chr1:11072691 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.1479C>T (p.Ser493=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000262387]|Frontotemporal dementia [RCV000357134]|Immunodeficiency due to MASP-2 deficiency [RCV000294328]|not specified [RCV000455702] |
Chr1:11027467 [GRCh38]
Chr1:11087524 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.*862G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000286313] |
Chr1:11023516 [GRCh38]
Chr1:11083573 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2829dup |
duplication |
Amyotrophic Lateral Sclerosis, Dominant [RCV000298127]|Frontotemporal dementia [RCV000359870] |
Chr1:11025474..11025475 [GRCh38]
Chr1:11085531..11085532 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2294_*2295insGTTTT |
insertion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000267829]|Frontotemporal dementia [RCV000353235]|Immunodeficiency due to MASP-2 deficiency [RCV000394679] |
Chr1:11024947..11024948 [GRCh38]
Chr1:11085004..11085005 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.*1795A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000339296] |
Chr1:11024449 [GRCh38]
Chr1:11084506 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2154G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000356925] |
Chr1:11024808 [GRCh38]
Chr1:11084865 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*111C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000326034] |
Chr1:11026774 [GRCh38]
Chr1:11086831 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2360C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000289215] |
Chr1:11025014 [GRCh38]
Chr1:11085071 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.-77G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000300041] |
Chr1:11012679 [GRCh38]
Chr1:11072736 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2005T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000290163] |
Chr1:11024659 [GRCh38]
Chr1:11084716 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.3(TARDBP):c.-117G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000402051] |
Chr1:11012639 [GRCh38]
Chr1:11072696 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2538del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000344401]|Frontotemporal dementia [RCV000389658] |
Chr1:11025191 [GRCh38]
Chr1:11085248 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*220A>G |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001099869] |
Chr1:11026665 [GRCh38]
Chr1:11086722 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.57A>G (p.Pro19=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099683]|Amyotrophic lateral sclerosis type 10 [RCV002554944] |
Chr1:11013784 [GRCh38]
Chr1:11073841 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_007375.4(TARDBP):c.*591G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099774] |
Chr1:11023245 [GRCh38]
Chr1:11083302 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*616G>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099775] |
Chr1:11023270 [GRCh38]
Chr1:11083327 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.945G>A (p.Ala315=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001096235]|Amyotrophic lateral sclerosis type 10 [RCV002058874]|not provided [RCV000416081] |
Chr1:11022354 [GRCh38]
Chr1:11082411 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 |
copy number loss |
See cases [RCV000446359] |
Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 |
copy number loss |
See cases [RCV000446470] |
Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12 |
pathogenic |
| GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 |
copy number gain |
See cases [RCV000448222] |
Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22 |
pathogenic |
| GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 |
copy number loss |
See cases [RCV000510444] |
Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_007375.4(TARDBP):c.1043G>T (p.Gly348Val) |
single nucleotide variant |
Motor neuron disease [RCV000492607] |
Chr1:11022452 [GRCh38]
Chr1:11082509 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001855018]|Motor neuron disease [RCV000492707] |
Chr1:11022531 [GRCh38]
Chr1:11082588 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_006610.4(MASP2):c.1514T>C (p.Leu505Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003304657] |
Chr1:11027432 [GRCh38]
Chr1:11087489 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000646150] |
Chr1:11016868 [GRCh38]
Chr1:11076925 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.714+69dup |
duplication |
Amyotrophic lateral sclerosis type 10 [RCV000625046]|not provided [RCV001692234]|not specified [RCV001579709] |
Chr1:11020666..11020667 [GRCh38]
Chr1:11080723..11080724 [GRCh37]
Chr1:1p36.22 |
benign|no classifications from unflagged records |
| NM_007375.4(TARDBP):c.111G>A (p.Gly37=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000646152] |
Chr1:11013838 [GRCh38]
Chr1:11073895 [GRCh37]
Chr1:1p36.22 |
likely benign |
| GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 |
copy number loss |
See cases [RCV000512501] |
Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21 |
likely pathogenic |
| GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 |
copy number loss |
See cases [RCV000512226] |
Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13 |
likely pathogenic |
| NM_007375.4(TARDBP):c.87C>T (p.Ser29=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002524956]|Inborn genetic diseases [RCV002448554]|not provided [RCV000513594] |
Chr1:11013814 [GRCh38]
Chr1:11073871 [GRCh37]
Chr1:1p36.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002067008]|Inborn genetic diseases [RCV002440566]|not provided [RCV000713822] |
Chr1:11022531 [GRCh38]
Chr1:11082588 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.669C>G (p.Pro223=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001101666]|Amyotrophic lateral sclerosis type 10 [RCV001467552]|Inborn genetic diseases [RCV003303206]|TARDBP-related condition [RCV003965466]|not provided [RCV000713824] |
Chr1:11020554 [GRCh38]
Chr1:11080611 [GRCh37]
Chr1:1p36.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007375.4(TARDBP):c.892G>T (p.Gly298Cys) |
single nucleotide variant |
not provided [RCV000713826] |
Chr1:11022301 [GRCh38]
Chr1:11082358 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV000704698]|not provided [RCV001548592] |
Chr1:11022334 [GRCh38]
Chr1:11082391 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.715-243C>T |
single nucleotide variant |
not provided [RCV001565875] |
Chr1:11021881 [GRCh38]
Chr1:11081938 [GRCh37]
Chr1:1p36.22 |
likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NC_000001.11:g.(?_11012634)_(11934865_?)del |
deletion |
Atrial fibrillation, familial, 6 [RCV001031444] |
Chr1:11072691..11994922 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.714+277T>C |
single nucleotide variant |
not provided [RCV001570791] |
Chr1:11020876 [GRCh38]
Chr1:11080933 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1574A>G (p.His525Arg) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000768264] |
Chr1:11027372 [GRCh38]
Chr1:11087429 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 |
copy number loss |
See cases [RCV000790592] |
Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.471A>G (p.Thr157=) |
single nucleotide variant |
not provided [RCV000917702] |
Chr1:11018801 [GRCh38]
Chr1:11078858 [GRCh37]
Chr1:1p36.22 |
likely benign |
| GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 |
copy number loss |
not provided [RCV001005065] |
Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NM_007375.4(TARDBP):c.975C>T (p.Ala325=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003769322]|not provided [RCV000993302] |
Chr1:11022384 [GRCh38]
Chr1:11082441 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_007375.4(TARDBP):c.963C>T (p.Ala321=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001096236]|Amyotrophic lateral sclerosis type 10 [RCV002557978] |
Chr1:11022372 [GRCh38]
Chr1:11082429 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_007375.4(TARDBP):c.*2123T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001096342]|Immunodeficiency due to MASP-2 deficiency [RCV001096341] |
Chr1:11024777 [GRCh38]
Chr1:11084834 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro) |
single nucleotide variant |
Frontotemporal dementia [RCV000986235] |
Chr1:11022538 [GRCh38]
Chr1:11082595 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NM_007375.4(TARDBP):c.*2260T>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001098077] |
Chr1:11024914 [GRCh38]
Chr1:11084971 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1231G>A (p.Val411Met) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098171] |
Chr1:11030242 [GRCh38]
Chr1:11090299 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*556G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001097989] |
Chr1:11023210 [GRCh38]
Chr1:11083267 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) |
duplication |
Amyotrophic lateral sclerosis type 10 [RCV000794845] |
Chr1:11022515..11022516 [GRCh38]
Chr1:11082572..11082573 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001095402]|Amyotrophic lateral sclerosis type 10 [RCV002555973] |
Chr1:11022302 [GRCh38]
Chr1:11082359 [GRCh37]
Chr1:1p36.22 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 |
copy number loss |
not provided [RCV000846372] |
Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21 |
uncertain significance |
| NM_007375.4(TARDBP):c.36C>T (p.Asn12=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099682]|Amyotrophic lateral sclerosis type 10 [RCV002067757]|Inborn genetic diseases [RCV002348556] |
Chr1:11013763 [GRCh38]
Chr1:11073820 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_007375.4(TARDBP):c.*142T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001096240] |
Chr1:11022796 [GRCh38]
Chr1:11082853 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096431] |
Chr1:11027060 [GRCh38]
Chr1:11087117 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1470T>G (p.His490Gln) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096432] |
Chr1:11027476 [GRCh38]
Chr1:11087533 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*551C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001097988] |
Chr1:11023205 [GRCh38]
Chr1:11083262 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2333C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001098079] |
Chr1:11024987 [GRCh38]
Chr1:11085044 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1314C>T (p.Ala438=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098170] |
Chr1:11027632 [GRCh38]
Chr1:11087689 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2823T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099866] |
Chr1:11025477 [GRCh38]
Chr1:11085534 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001207766] |
Chr1:11022371 [GRCh38]
Chr1:11082428 [GRCh37]
Chr1:1p36.22 |
likely pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.717T>C (p.Ile239=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001101667] |
Chr1:11022126 [GRCh38]
Chr1:11082183 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22(chr1:10908411-11158092)x3 |
copy number gain |
not provided [RCV001005066] |
Chr1:10908411..11158092 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*306C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001097986] |
Chr1:11022960 [GRCh38]
Chr1:11083017 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.402+191C>T |
single nucleotide variant |
not provided [RCV001566205] |
Chr1:11017198 [GRCh38]
Chr1:11077255 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.239-116G>T |
single nucleotide variant |
not provided [RCV001570187] |
Chr1:11016728 [GRCh38]
Chr1:11076785 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+147A>G |
single nucleotide variant |
not provided [RCV001717379] |
Chr1:11019020 [GRCh38]
Chr1:11079077 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.-12-263_-12-262del |
microsatellite |
not provided [RCV001637477] |
Chr1:11013451..11013452 [GRCh38]
Chr1:11073508..11073509 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.24C>T (p.Thr8=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002064747]|Inborn genetic diseases [RCV002427196] |
Chr1:11013751 [GRCh38]
Chr1:11073808 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.*212A>G |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101862] |
Chr1:11026673 [GRCh38]
Chr1:11086730 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*663C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099776] |
Chr1:11023317 [GRCh38]
Chr1:11083374 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*763G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099778] |
Chr1:11023417 [GRCh38]
Chr1:11083474 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1468C>T (p.His490Tyr) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096433] |
Chr1:11027478 [GRCh38]
Chr1:11087535 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.402+213dup |
duplication |
not provided [RCV001565294] |
Chr1:11017202..11017203 [GRCh38]
Chr1:11077259..11077260 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.714+79C>T |
single nucleotide variant |
not provided [RCV001562917] |
Chr1:11020678 [GRCh38]
Chr1:11080735 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.238+86A>G |
single nucleotide variant |
not provided [RCV001562964] |
Chr1:11014051 [GRCh38]
Chr1:11074108 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+290A>G |
single nucleotide variant |
not provided [RCV001575866] |
Chr1:11019163 [GRCh38]
Chr1:11079220 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+265A>G |
single nucleotide variant |
not provided [RCV001556131] |
Chr1:11019138 [GRCh38]
Chr1:11079195 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.238+228A>G |
single nucleotide variant |
not provided [RCV001718250] |
Chr1:11014193 [GRCh38]
Chr1:11074250 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.403-65A>G |
single nucleotide variant |
not provided [RCV001718360] |
Chr1:11018668 [GRCh38]
Chr1:11078725 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.544-156A>G |
single nucleotide variant |
not provided [RCV001550822] |
Chr1:11020273 [GRCh38]
Chr1:11080330 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.715-126del |
deletion |
not provided [RCV001595656] |
Chr1:11021998 [GRCh38]
Chr1:11082055 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.402+213del |
deletion |
not provided [RCV001638915] |
Chr1:11017203 [GRCh38]
Chr1:11077260 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.544-184C>T |
single nucleotide variant |
not provided [RCV001596360] |
Chr1:11020245 [GRCh38]
Chr1:11080302 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.714+166del |
deletion |
not provided [RCV001689307] |
Chr1:11020751 [GRCh38]
Chr1:11080808 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.402+110C>T |
single nucleotide variant |
not provided [RCV001689084] |
Chr1:11017117 [GRCh38]
Chr1:11077174 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.*670T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099777] |
Chr1:11023324 [GRCh38]
Chr1:11083381 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*311T>C |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001099867] |
Chr1:11026574 [GRCh38]
Chr1:11086631 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*282C>A |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001099868] |
Chr1:11026603 [GRCh38]
Chr1:11086660 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*954A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001101758] |
Chr1:11023608 [GRCh38]
Chr1:11083665 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.714+166dup |
duplication |
not provided [RCV001648450] |
Chr1:11020750..11020751 [GRCh38]
Chr1:11080807..11080808 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.*56C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001096238] |
Chr1:11022710 [GRCh38]
Chr1:11082767 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*560A>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001099773] |
Chr1:11023214 [GRCh38]
Chr1:11083271 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1 |
copy number loss |
See cases [RCV001194542] |
Chr1:11053101..11336968 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001208497] |
Chr1:11022541 [GRCh38]
Chr1:11082598 [GRCh37]
Chr1:1p36.22 |
likely pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.*343G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001097987] |
Chr1:11022997 [GRCh38]
Chr1:11083054 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001235559] |
Chr1:11020435 [GRCh38]
Chr1:11080492 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*64C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101864] |
Chr1:11026821 [GRCh38]
Chr1:11086878 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1972A>G (p.Met658Val) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101865] |
Chr1:11026974 [GRCh38]
Chr1:11087031 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.411A>G (p.Lys137=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002559644]|TARDBP-related condition [RCV003953563]|not provided [RCV001171751] |
Chr1:11018741 [GRCh38]
Chr1:11078798 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.*2749T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001098080] |
Chr1:11025403 [GRCh38]
Chr1:11085460 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*73G>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001096239]|TARDBP-related condition [RCV003405301] |
Chr1:11022727 [GRCh38]
Chr1:11082784 [GRCh37]
Chr1:1p36.22 |
benign|uncertain significance |
| NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001211878] |
Chr1:11013935 [GRCh38]
Chr1:11073992 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001095433] |
Chr1:11022469 [GRCh38]
Chr1:11082526 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002539645]|not provided [RCV001663537] |
Chr1:11022530 [GRCh38]
Chr1:11082587 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001333649] |
Chr1:11020508 [GRCh38]
Chr1:11080565 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.894T>C (p.Gly298=) |
single nucleotide variant |
not provided [RCV001288869] |
Chr1:11022303 [GRCh38]
Chr1:11082360 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.699A>G (p.Thr233=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001475232] |
Chr1:11020584 [GRCh38]
Chr1:11080641 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1101C>T (p.Phe367=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001475951] |
Chr1:11022510 [GRCh38]
Chr1:11082567 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.544-6G>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001408016] |
Chr1:11020423 [GRCh38]
Chr1:11080480 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.715-301G>T |
single nucleotide variant |
not provided [RCV001616611] |
Chr1:11021823 [GRCh38]
Chr1:11081880 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.-13+95C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001512431] |
Chr1:11012838 [GRCh38]
Chr1:11072895 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001911047] |
Chr1:11013954 [GRCh38]
Chr1:11074011 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 |
copy number loss |
not provided [RCV001832902] |
Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13 |
pathogenic |
| NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001985349] |
Chr1:11022478 [GRCh38]
Chr1:11082535 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1015A>G (p.Met339Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001934211] |
Chr1:11022424 [GRCh38]
Chr1:11082481 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1056T>C (p.Asn352=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001957773] |
Chr1:11022465 [GRCh38]
Chr1:11082522 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002013790] |
Chr1:11022564 [GRCh38]
Chr1:11082621 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_8616514)_(12476900_?)dup |
duplication |
Immunodeficiency 14 [RCV001920571] |
Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001882100] |
Chr1:11022596 [GRCh38]
Chr1:11082653 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_6485016)_(12569078_?)del |
deletion |
not provided [RCV001940096] |
Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22 |
uncertain significance |
| NC_000001.10:g.(?_10003560)_(11346188_?)del |
deletion |
Peroxisome biogenesis disorder, complementation group K [RCV001994817] |
Chr1:10003560..11346188 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.900A>G (p.Gly300=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002130446] |
Chr1:11022309 [GRCh38]
Chr1:11082366 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.714+17C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002145996] |
Chr1:11020616 [GRCh38]
Chr1:11080673 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1515_1516dup (p.Ser506fs) |
duplication |
not provided [RCV002224614] |
Chr1:11027429..11027430 [GRCh38]
Chr1:11087486..11087487 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NM_007375.4(TARDBP):c.239-11G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002168795] |
Chr1:11016833 [GRCh38]
Chr1:11076890 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.330T>G (p.Gly110=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002108148]|Inborn genetic diseases [RCV002325627] |
Chr1:11016935 [GRCh38]
Chr1:11076992 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.544-17C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002076916] |
Chr1:11020412 [GRCh38]
Chr1:11080469 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.402+19A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002134119] |
Chr1:11017026 [GRCh38]
Chr1:11077083 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+9G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002114774] |
Chr1:11018882 [GRCh38]
Chr1:11078939 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.162C>T (p.Val54=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002121281]|Inborn genetic diseases [RCV002400343] |
Chr1:11013889 [GRCh38]
Chr1:11073946 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+15G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002117569] |
Chr1:11018888 [GRCh38]
Chr1:11078945 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.622C>A (p.Arg208=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002218136] |
Chr1:11020507 [GRCh38]
Chr1:11080564 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.189C>T (p.Ala63=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002102002] |
Chr1:11013916 [GRCh38]
Chr1:11073973 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.403-5T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002219199]|TARDBP-related condition [RCV003893212] |
Chr1:11018728 [GRCh38]
Chr1:11078785 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NC_000001.10:g.(?_10535024)_(11107264_?)dup |
duplication |
Peroxisome biogenesis disorder, complementation group K [RCV003113536] |
Chr1:10535024..11107264 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_10698999)_(11907741_?)dup |
duplication |
Atrial fibrillation, familial, 6 [RCV003116537] |
Chr1:10698999..11907741 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_9770514)_(11264780_?)del |
deletion |
Immunodeficiency 14 [RCV003116291] |
Chr1:9770514..11264780 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_10753911)_(11854615_?)dup |
duplication |
not provided [RCV003113615] |
Chr1:10753911..11854615 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_9304994)_(12569078_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV003119499] |
Chr1:9304994..12569078 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.80_97delinsAT (p.Leu27fs) |
indel |
Inborn genetic diseases [RCV002419184] |
Chr1:11013807..11013824 [GRCh38]
Chr1:11073864..11073881 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.11:g.10115497_16283149dup |
duplication |
not specified [RCV002286386] |
Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13 |
likely pathogenic |
| NM_007375.4(TARDBP):c.1075A>G (p.Met359Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002419653] |
Chr1:11022484 [GRCh38]
Chr1:11082541 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.121C>T (p.Leu41Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002368776] |
Chr1:11013848 [GRCh38]
Chr1:11073905 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 |
copy number loss |
not provided [RCV002473951] |
Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| NM_007375.4(TARDBP):c.792C>T (p.His264=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003099791]|Inborn genetic diseases [RCV002416775]|not provided [RCV003426404] |
Chr1:11022201 [GRCh38]
Chr1:11082258 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_007375.4(TARDBP):c.1173delinsCAATGCG (p.Ala391_Gly392insAsnAla) |
indel |
not provided [RCV002474374] |
Chr1:11022582 [GRCh38]
Chr1:11082639 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 |
copy number loss |
not provided [RCV002474779] |
Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13 |
pathogenic |
| NM_007375.4(TARDBP):c.1141G>T (p.Ala381Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002460208] |
Chr1:11022550 [GRCh38]
Chr1:11082607 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.336A>G (p.Pro112=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451700] |
Chr1:11016941 [GRCh38]
Chr1:11076998 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003775016]|not specified [RCV002308531] |
Chr1:11022479 [GRCh38]
Chr1:11082536 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.342A>G (p.Lys114=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457002] |
Chr1:11016947 [GRCh38]
Chr1:11077004 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.967A>G (p.Met323Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002376547] |
Chr1:11022376 [GRCh38]
Chr1:11082433 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.263C>G (p.Thr88Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002428626] |
Chr1:11016868 [GRCh38]
Chr1:11076925 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.774C>G (p.Ser258=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003099733]|Inborn genetic diseases [RCV002409661] |
Chr1:11022183 [GRCh38]
Chr1:11082240 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.911G>A (p.Gly304Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002378703] |
Chr1:11022320 [GRCh38]
Chr1:11082377 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.655G>A (p.Asp219Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002364404] |
Chr1:11020540 [GRCh38]
Chr1:11080597 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002295398] |
Chr1:11022355 [GRCh38]
Chr1:11082412 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1213A>G (p.Met405Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003098090]|Inborn genetic diseases [RCV002357895] |
Chr1:11022622 [GRCh38]
Chr1:11082679 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.642C>T (p.Tyr214=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003776256]|Inborn genetic diseases [RCV002361717] |
Chr1:11020527 [GRCh38]
Chr1:11080584 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.149G>C (p.Cys50Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002389876] |
Chr1:11013876 [GRCh38]
Chr1:11073933 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1005T>A (p.Gly335=) |
single nucleotide variant |
Inborn genetic diseases [RCV002410598] |
Chr1:11022414 [GRCh38]
Chr1:11082471 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.360G>A (p.Leu120=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003099618]|Inborn genetic diseases [RCV002455323] |
Chr1:11016965 [GRCh38]
Chr1:11077022 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1047A>G (p.Pro349=) |
single nucleotide variant |
Inborn genetic diseases [RCV002405778] |
Chr1:11022456 [GRCh38]
Chr1:11082513 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1474G>A (p.Ala492Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002858734] |
Chr1:11027472 [GRCh38]
Chr1:11087529 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002971669] |
Chr1:11022350 [GRCh38]
Chr1:11082407 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1923T>G (p.Asp641Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002859158] |
Chr1:11027023 [GRCh38]
Chr1:11087080 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1173A>G (p.Ala391=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002996256] |
Chr1:11022582 [GRCh38]
Chr1:11082639 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+112C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002946294] |
Chr1:11018985 [GRCh38]
Chr1:11079042 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.715-18A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002972344] |
Chr1:11022106 [GRCh38]
Chr1:11082163 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla) |
duplication |
Amyotrophic lateral sclerosis type 10 [RCV002880627] |
Chr1:11022574..11022575 [GRCh38]
Chr1:11082631..11082632 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1798G>A (p.Ala600Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002883467] |
Chr1:11027148 [GRCh38]
Chr1:11087205 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002953099] |
Chr1:11020472 [GRCh38]
Chr1:11080529 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1864G>A (p.Glu622Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002849442] |
Chr1:11027082 [GRCh38]
Chr1:11087139 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.609T>G (p.Thr203=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003038952] |
Chr1:11020494 [GRCh38]
Chr1:11080551 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.636T>G (p.Ser212=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003039303] |
Chr1:11020521 [GRCh38]
Chr1:11080578 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1453G>A (p.Val485Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002759724] |
Chr1:11027493 [GRCh38]
Chr1:11087550 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.238+16G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003077526] |
Chr1:11013981 [GRCh38]
Chr1:11074038 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.714+18G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003018795] |
Chr1:11020617 [GRCh38]
Chr1:11080674 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1309T>C (p.Ser437Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002757509] |
Chr1:11027637 [GRCh38]
Chr1:11087694 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1702G>C (p.Gly568Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002844437] |
Chr1:11027244 [GRCh38]
Chr1:11087301 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.939T>C (p.Phe313=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002622509] |
Chr1:11022348 [GRCh38]
Chr1:11082405 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.930G>A (p.Gly310=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002638482] |
Chr1:11022339 [GRCh38]
Chr1:11082396 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002761523] |
Chr1:11022463 [GRCh38]
Chr1:11082520 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1411G>A (p.Ala471Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002822221] |
Chr1:11027535 [GRCh38]
Chr1:11087592 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003007169] |
Chr1:11022566 [GRCh38]
Chr1:11082623 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1582G>A (p.Gly528Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002826992] |
Chr1:11027364 [GRCh38]
Chr1:11087421 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002664150] |
Chr1:11022532 [GRCh38]
Chr1:11082589 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NM_007375.4(TARDBP):c.312C>T (p.Ser104=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002711049]|TARDBP-related condition [RCV003961114] |
Chr1:11016917 [GRCh38]
Chr1:11076974 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1853G>C (p.Cys618Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002931214] |
Chr1:11027093 [GRCh38]
Chr1:11087150 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter) |
duplication |
Amyotrophic lateral sclerosis type 10 [RCV002812118]|Amyotrophic lateral sclerosis type 10 [RCV003985874] |
Chr1:11022539..11022540 [GRCh38]
Chr1:11082596..11082597 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.2011A>C (p.Lys671Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002673212] |
Chr1:11026935 [GRCh38]
Chr1:11086992 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.944C>T (p.Ala315Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002676580] |
Chr1:11022353 [GRCh38]
Chr1:11082410 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.403-14A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003065615] |
Chr1:11018719 [GRCh38]
Chr1:11078776 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003089575]|TARDBP-related condition [RCV003420327] |
Chr1:11022538 [GRCh38]
Chr1:11082595 [GRCh37]
Chr1:1p36.22 |
likely pathogenic|uncertain significance |
| NM_007375.4(TARDBP):c.239-12C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002900502] |
Chr1:11016832 [GRCh38]
Chr1:11076889 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+20G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003087467] |
Chr1:11018893 [GRCh38]
Chr1:11078950 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002578481] |
Chr1:11022460 [GRCh38]
Chr1:11082517 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.465T>C (p.Tyr155=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002631625] |
Chr1:11018795 [GRCh38]
Chr1:11078852 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.495A>G (p.Arg165=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002810235] |
Chr1:11018825 [GRCh38]
Chr1:11078882 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV002725576] |
Chr1:11022385 [GRCh38]
Chr1:11082442 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV003132596]|Inborn genetic diseases [RCV003250848] |
Chr1:11027227 [GRCh38]
Chr1:11087284 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003226896] |
Chr1:11022542 [GRCh38]
Chr1:11082599 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NC_000001.10:g.4481271_20530242del |
deletion |
Chromosome 1p36 deletion syndrome [RCV003159574] |
Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12 |
pathogenic |
| NM_007375.4(TARDBP):c.*81_*84del |
deletion |
Inborn genetic diseases [RCV003185100] |
Chr1:11022732..11022735 [GRCh38]
Chr1:11082789..11082792 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1102G>A (p.Gly368Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003173456] |
Chr1:11022511 [GRCh38]
Chr1:11082568 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1072A>T (p.Asn358Tyr) |
single nucleotide variant |
not provided [RCV003319780] |
Chr1:11022481 [GRCh38]
Chr1:11082538 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1947G>T (p.Val649=) |
single nucleotide variant |
not provided [RCV003422557] |
Chr1:11026999 [GRCh38]
Chr1:11087056 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1780G>C (p.Asp594His) |
single nucleotide variant |
Inborn genetic diseases [RCV003386411] |
Chr1:11027166 [GRCh38]
Chr1:11087223 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.780C>T (p.Ala260=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003777534]|Inborn genetic diseases [RCV003363884] |
Chr1:11022189 [GRCh38]
Chr1:11082246 [GRCh37]
Chr1:1p36.22 |
likely benign |
| GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 |
copy number gain |
Trisomy 12p [RCV003447845] |
Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1 |
pathogenic |
| NM_007375.4(TARDBP):c.169G>A (p.Val57Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003797315] |
Chr1:11013896 [GRCh38]
Chr1:11073953 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.239-18T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003792411] |
Chr1:11016826 [GRCh38]
Chr1:11076883 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.990A>G (p.Leu330=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003797737] |
Chr1:11022399 [GRCh38]
Chr1:11082456 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003806998] |
Chr1:11022557 [GRCh38]
Chr1:11082614 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.639G>C (p.Gln213His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003807125] |
Chr1:11020524 [GRCh38]
Chr1:11080581 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.909A>G (p.Gln303=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003787486] |
Chr1:11022318 [GRCh38]
Chr1:11082375 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.715-11A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003794635] |
Chr1:11022113 [GRCh38]
Chr1:11082170 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.543+16C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003787839] |
Chr1:11018889 [GRCh38]
Chr1:11078946 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003804946] |
Chr1:11022531 [GRCh38]
Chr1:11082588 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.238+21dup |
duplication |
Amyotrophic lateral sclerosis type 10 [RCV003782705] |
Chr1:11013981..11013982 [GRCh38]
Chr1:11074038..11074039 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003781443] |
Chr1:11016895 [GRCh38]
Chr1:11076952 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.114G>A (p.Ala38=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003783297] |
Chr1:11013841 [GRCh38]
Chr1:11073898 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs) |
indel |
Immunodeficiency due to MASP-2 deficiency [RCV003486147] |
Chr1:11030212..11030219 [GRCh38]
Chr1:11090269..11090276 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.544-15T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003804601] |
Chr1:11020414 [GRCh38]
Chr1:11080471 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe) |
indel |
Amyotrophic lateral sclerosis type 10 [RCV003792179] |
Chr1:11018835..11018836 [GRCh38]
Chr1:11078892..11078893 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.1179G>A (p.Ser393=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003791335] |
Chr1:11022588 [GRCh38]
Chr1:11082645 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003788813] |
Chr1:11022550 [GRCh38]
Chr1:11082607 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003780897] |
Chr1:11022185 [GRCh38]
Chr1:11082242 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV003486146] |
Chr1:11027043 [GRCh38]
Chr1:11087100 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003812555] |
Chr1:11013822 [GRCh38]
Chr1:11073879 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.12T>C (p.Tyr4=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003800962] |
Chr1:11013739 [GRCh38]
Chr1:11073796 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_007375.4(TARDBP):c.273A>G (p.Ser91=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV003802308] |
Chr1:11016878 [GRCh38]
Chr1:11076935 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1773G>A (p.Pro591=) |
single nucleotide variant |
MASP2-related condition [RCV003931366]|not provided [RCV003884984] |
Chr1:11027173 [GRCh38]
Chr1:11087230 [GRCh37]
Chr1:1p36.22 |
likely benign |
| GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 |
copy number loss |
not specified [RCV003987128] |
Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21 |
pathogenic |
| NM_006610.4(MASP2):c.1647G>A (p.Thr549=) |
single nucleotide variant |
MASP2-related condition [RCV003934725] |
Chr1:11027299 [GRCh38]
Chr1:11087356 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1827G>A (p.Arg609=) |
single nucleotide variant |
MASP2-related condition [RCV003976827] |
Chr1:11027119 [GRCh38]
Chr1:11087176 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1857T>G (p.Ala619=) |
single nucleotide variant |
MASP2-related condition [RCV003921639] |
Chr1:11027089 [GRCh38]
Chr1:11087146 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1689G>A (p.Arg563=) |
single nucleotide variant |
MASP2-related condition [RCV003909273] |
Chr1:11027257 [GRCh38]
Chr1:11087314 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1391G>C (p.Gly464Ala) |
single nucleotide variant |
MASP2-related condition [RCV003944736] |
Chr1:11027555 [GRCh38]
Chr1:11087612 [GRCh37]
Chr1:1p36.22 |
benign |
