NM_013444.4(UBQLN2):c.1474G>C (p.Val492Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003640905]|UBQLN2-related disorder [RCV004752928]|not specified [RCV000516395] |
ChrX:56565347 [GRCh38] ChrX:56591780 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV000022842] |
ChrX:56565363 [GRCh38] ChrX:56591796 [GRCh37] ChrX:Xp11.21 |
pathogenic |
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV000022843] |
ChrX:56565362 [GRCh38] ChrX:56591795 [GRCh37] ChrX:Xp11.21 |
pathogenic |
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV000022844] |
ChrX:56565389 [GRCh38] ChrX:56591822 [GRCh37] ChrX:Xp11.21 |
pathogenic |
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV000022845]|UBQLN2-related disorder [RCV004752721] |
ChrX:56565398 [GRCh38] ChrX:56591831 [GRCh37] ChrX:Xp11.21 |
pathogenic|uncertain significance |
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV000625776]|Amyotrophic lateral sclerosis type 15 [RCV000022846]|UBQLN2-related disorder [RCV003944836]|not provided [RCV003441723] |
ChrX:56565446 [GRCh38] ChrX:56591879 [GRCh37] ChrX:Xp11.21 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) |
single nucleotide variant |
not provided [RCV000730263]|not specified [RCV000518129] |
ChrX:56565293 [GRCh38] ChrX:56591726 [GRCh37] ChrX:Xp11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2 |
copy number gain |
See cases [RCV000052414] |
ChrX:55895084..65038751 [GRCh38] ChrX:55921517..64258631 [GRCh37] ChrX:55938242..64175356 [NCBI36] ChrX:Xp11.21-q11.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 |
copy number gain |
See cases [RCV000052392] |
ChrX:51664377..58055036 [GRCh38] ChrX:51407309..58081470 [GRCh37] ChrX:51424049..58098195 [NCBI36] ChrX:Xp11.22-11.21 |
pathogenic |
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 |
copy number gain |
See cases [RCV000052393] |
ChrX:52363196..58455952 [GRCh38] ChrX:52175778..58482385 [GRCh37] ChrX:52123054..58499110 [NCBI36] ChrX:Xp11.22-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 |
copy number loss |
See cases [RCV000053007] |
ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 |
copy number loss |
See cases [RCV000052990] |
ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 |
copy number loss |
See cases [RCV000052994] |
ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV000144928] |
ChrX:56565363 [GRCh38] ChrX:56591796 [GRCh37] ChrX:Xp11.21 |
pathogenic|uncertain significance|not provided |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 |
copy number loss |
See cases [RCV000134026] |
ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 |
copy number loss |
See cases [RCV000135306] |
ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 |
copy number loss |
See cases [RCV000137552] |
ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 |
copy number gain |
See cases [RCV000137412] |
ChrX:53750365..63089185 [GRCh38] ChrX:53776863..62203737 [GRCh37] ChrX:53793588..62225380 [NCBI36] ChrX:Xp11.22-q11.1 |
pathogenic |
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 |
copy number loss |
See cases [RCV000137414] |
ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2 |
copy number gain |
See cases [RCV000137371] |
ChrX:56127875..63867853 [GRCh38] ChrX:56154308..63087733 [GRCh37] ChrX:56171033..63004458 [NCBI36] ChrX:Xp11.21-q11.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 |
copy number loss |
See cases [RCV000139343] |
ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp11.21(chrX:56041093-57333244)x2 |
copy number gain |
See cases [RCV000141695] |
ChrX:56041093..57333244 [GRCh38] ChrX:56067526..57359677 [GRCh37] ChrX:56084251..57376402 [NCBI36] ChrX:Xp11.21 |
uncertain significance |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 |
copy number loss |
See cases [RCV000142334] |
ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 |
copy number gain |
See cases [RCV000142756] |
ChrX:52809123..65305544 [GRCh38] ChrX:52838147..64525424 [GRCh37] ChrX:52854872..64442149 [NCBI36] ChrX:Xp11.22-q11.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 |
copy number gain |
See cases [RCV000239834] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_013444.4(UBQLN2):c.915G>C (p.Thr305=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002085733] |
ChrX:56564788 [GRCh38] ChrX:56591221 [GRCh37] ChrX:Xp11.21 |
likely benign |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 |
copy number loss |
See cases [RCV000239814] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 |
copy number loss |
See cases [RCV000511311] |
ChrX:55240087..78225374 [GRCh37] ChrX:Xp11.21-q21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1 |
pathogenic |
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000399814]|Amyotrophic lateral sclerosis type 15 [RCV001079580]|not provided [RCV000547371]|not specified [RCV000241665] |
ChrX:56565334 [GRCh38] ChrX:56591767 [GRCh37] ChrX:Xp11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.*1170dup |
duplication |
Amyotrophic Lateral Sclerosis, Dominant [RCV000303430] |
ChrX:56566917..56566918 [GRCh38] ChrX:56593350..56593351 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.-163G>T |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000294537]|Amyotrophic lateral sclerosis type 15 [RCV001167818]|not provided [RCV004703896] |
ChrX:56563711 [GRCh38] ChrX:56590144 [GRCh37] ChrX:Xp11.21 |
benign|likely benign |
NM_013444.4(UBQLN2):c.*1258C>T |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000358178]|Amyotrophic lateral sclerosis type 15 [RCV001165714]|not provided [RCV004703897] |
ChrX:56567006 [GRCh38] ChrX:56593439 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.-55CT[5] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000349652] |
ChrX:56563818..56563819 [GRCh38] ChrX:56590251..56590252 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000281846]|Amyotrophic lateral sclerosis type 15 [RCV001167824] |
ChrX:56565043 [GRCh38] ChrX:56591476 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.3(UBQLN2):c.-277A>C |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000325002]|Amyotrophic lateral sclerosis type 15 [RCV001167235] |
ChrX:56563597 [GRCh38] ChrX:56590030 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000385557]|Amyotrophic lateral sclerosis type 15 [RCV001167821] |
ChrX:56564116 [GRCh38] ChrX:56590549 [GRCh37] ChrX:Xp11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_013444.3(UBQLN2):c.-271G>C |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000388853]|Amyotrophic lateral sclerosis type 15 [RCV001167817] |
ChrX:56563603 [GRCh38] ChrX:56590036 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000336836]|Amyotrophic lateral sclerosis type 15 [RCV000649034]|not provided [RCV001580013]|not specified [RCV001288936] |
ChrX:56565256 [GRCh38] ChrX:56591689 [GRCh37] ChrX:Xp11.21 |
benign|likely benign |
NM_013444.4(UBQLN2):c.*16T>C |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000297168]|Amyotrophic lateral sclerosis type 15 [RCV001169694] |
ChrX:56565764 [GRCh38] ChrX:56592197 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.*41G>T |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000342793]|Amyotrophic lateral sclerosis type 15 [RCV001169695] |
ChrX:56565789 [GRCh38] ChrX:56592222 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.*881A>G |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000400643]|Amyotrophic lateral sclerosis type 15 [RCV001165711] |
ChrX:56566629 [GRCh38] ChrX:56593062 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1318C>A (p.Pro440Thr) |
single nucleotide variant |
not provided [RCV000487760]|not specified [RCV004023236] |
ChrX:56565191 [GRCh38] ChrX:56591624 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1496G>A (p.Gly499Asp) |
single nucleotide variant |
not provided [RCV001760674] |
ChrX:56565369 [GRCh38] ChrX:56591802 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 |
copy number loss |
See cases [RCV000447092] |
ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 |
copy number loss |
See cases [RCV000447773] |
ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 |
copy number loss |
See cases [RCV000510437] |
ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 |
copy number loss |
See cases [RCV000511615] |
ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 |
copy number loss |
See cases [RCV000512022] |
ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 |
copy number loss |
See cases [RCV000512339] |
ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_013444.4(UBQLN2):c.579C>T (p.Ser193=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005056463]|UBQLN2-related disorder [RCV004753006]|not provided [RCV000714148] |
ChrX:56564452 [GRCh38] ChrX:56590885 [GRCh37] ChrX:Xp11.21 |
benign|likely benign |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 |
copy number loss |
not provided [RCV000753535] |
ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002066081]|not specified [RCV004877683] |
ChrX:56565588 [GRCh38] ChrX:56592021 [GRCh37] ChrX:Xp11.21 |
benign|uncertain significance |
NM_013444.4(UBQLN2):c.264C>T (p.Ile88=) |
single nucleotide variant |
not provided [RCV000925752] |
ChrX:56564137 [GRCh38] ChrX:56590570 [GRCh37] ChrX:Xp11.21 |
likely benign |
46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated circulating creatine kinase concentration [RCV000856573] |
ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
NM_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV000793463] |
ChrX:56565447 [GRCh38] ChrX:56591880 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21(chrX:56457791-57976114)x2 |
copy number gain |
not provided [RCV000849391] |
ChrX:56457791..57976114 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.*905G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001165712] |
ChrX:56566653 [GRCh38] ChrX:56593086 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.*1171T>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001165713] |
ChrX:56566919 [GRCh38] ChrX:56593352 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1516C>T (p.Pro506Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001095427] |
ChrX:56565389 [GRCh38] ChrX:56591822 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.-54T>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001167820] |
ChrX:56563820 [GRCh38] ChrX:56590253 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001209947] |
ChrX:56565587 [GRCh38] ChrX:56592020 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001211116] |
ChrX:56564933 [GRCh38] ChrX:56591366 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 |
copy number loss |
not provided [RCV000846273] |
ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
NM_013444.4(UBQLN2):c.900C>A (p.Ser300=) |
single nucleotide variant |
not provided [RCV000910795] |
ChrX:56564773 [GRCh38] ChrX:56591206 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.378G>A (p.Ala126=) |
single nucleotide variant |
not provided [RCV000927086] |
ChrX:56564251 [GRCh38] ChrX:56590684 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.-159A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001167819] |
ChrX:56563715 [GRCh38] ChrX:56590148 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003526032]|not provided [RCV001092792] |
ChrX:56565147 [GRCh38] ChrX:56591580 [GRCh37] ChrX:Xp11.21 |
pathogenic|uncertain significance |
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001169693] |
ChrX:56565731 [GRCh38] ChrX:56592164 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001228420] |
ChrX:56564811 [GRCh38] ChrX:56591244 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001167822] |
ChrX:56564681 [GRCh38] ChrX:56591114 [GRCh37] ChrX:Xp11.21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_013444.4(UBQLN2):c.1031A>G (p.Asn344Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001167823] |
ChrX:56564904 [GRCh38] ChrX:56591337 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.3(UBQLN2):c.-272T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001167236] |
ChrX:56563602 [GRCh38] ChrX:56590035 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.1174A>G (p.Met392Val) |
single nucleotide variant |
not provided [RCV001531157] |
ChrX:56565047 [GRCh38] ChrX:56591480 [GRCh37] ChrX:Xp11.21 |
likely pathogenic |
NM_013444.4(UBQLN2):c.636G>A (p.Gln212=) |
single nucleotide variant |
not provided [RCV001579940] |
ChrX:56564509 [GRCh38] ChrX:56590942 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001316038] |
ChrX:56565600 [GRCh38] ChrX:56592033 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.522G>A (p.Gln174=) |
single nucleotide variant |
not provided [RCV001289409] |
ChrX:56564395 [GRCh38] ChrX:56590828 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1499C>A (p.Pro500His) |
single nucleotide variant |
not provided [RCV001289408] |
ChrX:56565372 [GRCh38] ChrX:56591805 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.717G>A (p.Arg239=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001516388] |
ChrX:56564590 [GRCh38] ChrX:56591023 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.1417A>G (p.Ile473Val) |
single nucleotide variant |
not provided [RCV001763138] |
ChrX:56565290 [GRCh38] ChrX:56591723 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1255A>G (p.Asn419Asp) |
single nucleotide variant |
not provided [RCV001773357] |
ChrX:56565128 [GRCh38] ChrX:56591561 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002538747]|not provided [RCV001756695] |
ChrX:56564910 [GRCh38] ChrX:56591343 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002020808] |
ChrX:56563894 [GRCh38] ChrX:56590327 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.304A>G (p.Ile102Val) |
single nucleotide variant |
Vascular dementia [RCV002051769] |
ChrX:56564177 [GRCh38] ChrX:56590610 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001871478] |
ChrX:56564730 [GRCh38] ChrX:56591163 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002000744] |
ChrX:56564720 [GRCh38] ChrX:56591153 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001937846] |
ChrX:56565071 [GRCh38] ChrX:56591504 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001867618] |
ChrX:56564886 [GRCh38] ChrX:56591319 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002049008] |
ChrX:56565347 [GRCh38] ChrX:56591780 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001878297] |
ChrX:56565152 [GRCh38] ChrX:56591585 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1011C>T (p.Ser337=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002207807] |
ChrX:56564884 [GRCh38] ChrX:56591317 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.900C>T (p.Ser300=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002095503] |
ChrX:56564773 [GRCh38] ChrX:56591206 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1329A>G (p.Leu443=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002197019] |
ChrX:56565202 [GRCh38] ChrX:56591635 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1455G>A (p.Leu485=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002100003] |
ChrX:56565328 [GRCh38] ChrX:56591761 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002162796]|UBQLN2-related disorder [RCV003403700]|not provided [RCV003883774] |
ChrX:56564892 [GRCh38] ChrX:56591325 [GRCh37] ChrX:Xp11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_013444.4(UBQLN2):c.51T>A (p.Pro17=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002200883] |
ChrX:56563924 [GRCh38] ChrX:56590357 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002157671]|not provided [RCV005242177] |
ChrX:56565175 [GRCh38] ChrX:56591608 [GRCh37] ChrX:Xp11.21 |
benign|likely benign |
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003115682] |
ChrX:56565264 [GRCh38] ChrX:56591697 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) |
copy number loss |
Turner syndrome [RCV002280671] |
ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_013444.4(UBQLN2):c.947T>C (p.Leu316Pro) |
single nucleotide variant |
not provided [RCV002261659] |
ChrX:56564820 [GRCh38] ChrX:56591253 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1003A>T (p.Thr335Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002471695] |
ChrX:56564876 [GRCh38] ChrX:56591309 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1043A>G (p.Asn348Ser) |
single nucleotide variant |
not specified [RCV004137005] |
ChrX:56564916 [GRCh38] ChrX:56591349 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003075025] |
ChrX:56564200 [GRCh38] ChrX:56590633 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002756501] |
ChrX:56564274 [GRCh38] ChrX:56590707 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.509_510delinsTA (p.Gln170Leu) |
indel |
not provided [RCV003152059] |
ChrX:56564382..56564383 [GRCh38] ChrX:56590815..56590816 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002800177] |
ChrX:56564926 [GRCh38] ChrX:56591359 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.648G>T (p.Gln216His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003080786] |
ChrX:56564521 [GRCh38] ChrX:56590954 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002639584]|not specified [RCV004681521] |
ChrX:56564232 [GRCh38] ChrX:56590665 [GRCh37] ChrX:Xp11.21 |
benign|uncertain significance |
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002926960] |
ChrX:56564718 [GRCh38] ChrX:56591151 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002571121]|not specified [RCV004064405] |
ChrX:56565497 [GRCh38] ChrX:56591930 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002953200] |
ChrX:56564985 [GRCh38] ChrX:56591418 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1]) |
microsatellite |
Amyotrophic lateral sclerosis type 15 [RCV002875998]|UBQLN2-related disorder [RCV003961145]|not provided [RCV003434513] |
ChrX:56565361..56565369 [GRCh38] ChrX:56591794..56591802 [GRCh37] ChrX:Xp11.21 |
benign|likely benign |
NM_013444.4(UBQLN2):c.195C>T (p.Phe65=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002790257]|not provided [RCV003434509] |
ChrX:56564068 [GRCh38] ChrX:56590501 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002766441] |
ChrX:56564367 [GRCh38] ChrX:56590800 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002700704]|UBQLN2-related disorder [RCV003916515]|not provided [RCV004598214] |
ChrX:56564278 [GRCh38] ChrX:56590711 [GRCh37] ChrX:Xp11.21 |
benign|likely benign |
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003084751] |
ChrX:56564237 [GRCh38] ChrX:56590670 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003088473] |
ChrX:56563922 [GRCh38] ChrX:56590355 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002939139] |
ChrX:56565442 [GRCh38] ChrX:56591875 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1872G>A (p.Ser624=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003090283] |
ChrX:56565745 [GRCh38] ChrX:56592178 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003064727] |
ChrX:56565354 [GRCh38] ChrX:56591787 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002635822] |
ChrX:56564241 [GRCh38] ChrX:56590674 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1407A>T (p.Ala469=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003069038] |
ChrX:56565280 [GRCh38] ChrX:56591713 [GRCh37] ChrX:Xp11.21 |
likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 |
copy number loss |
See cases [RCV000134568] |
ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 |
copy number gain |
See cases [RCV000135877] |
ChrX:53764152..58014767 [GRCh38] ChrX:53790650..58041201 [GRCh37] ChrX:53807375..58057926 [NCBI36] ChrX:Xp11.22-11.21 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 |
copy number gain |
See cases [RCV000135958] |
ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) |
copy number loss |
See cases [RCV000141742] |
ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 |
copy number loss |
See cases [RCV000142036] |
ChrX:51654792..58469500 [GRCh38] ChrX:51397726..58495933 [GRCh37] ChrX:51414466..58512658 [NCBI36] ChrX:Xp11.22-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 |
copy number loss |
See cases [RCV000143131] |
ChrX:56431359..76557419 [GRCh38] ChrX:56457792..75777827 [GRCh37] ChrX:56474517..75694231 [NCBI36] ChrX:Xp11.21-q13.3 |
pathogenic |
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 |
copy number gain |
See cases [RCV000239889] |
ChrX:53085607..67176333 [GRCh37] ChrX:Xp11.22-q12 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 |
copy number gain |
See cases [RCV000240407] |
ChrX:53220822..58066465 [GRCh37] ChrX:Xp11.22-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q11.1(chrX:56457791-62348148)x3 |
copy number gain |
See cases [RCV000511839] |
ChrX:56457791..62348148 [GRCh37] ChrX:Xp11.21-q11.1 |
uncertain significance |
GRCh37/hg19 Xp11.21(chrX:56488503-57276424) |
copy number gain |
Global developmental delay [RCV000626550] |
ChrX:56488503..57276424 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV000649033] |
ChrX:56564841 [GRCh38] ChrX:56591274 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.3(UBQLN2):c.1581_1584delinsG (p.Thr528del) |
indel |
not provided [RCV000714147] |
ChrX:56565454..56565457 [GRCh38] ChrX:56591887..56591890 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1145T>A (p.Leu382Gln) |
single nucleotide variant |
not provided [RCV000714146] |
ChrX:56565018 [GRCh38] ChrX:56591451 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.1852C>T (p.Leu618=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001397590] |
ChrX:56565725 [GRCh38] ChrX:56592158 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.*661A>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001169697] |
ChrX:56566409 [GRCh38] ChrX:56592842 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.*655A>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001169696] |
ChrX:56566403 [GRCh38] ChrX:56592836 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
NM_013444.4(UBQLN2):c.1016G>T (p.Gly339Val) |
single nucleotide variant |
not provided [RCV002467034] |
ChrX:56564889 [GRCh38] ChrX:56591322 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3 |
copy number gain |
not provided [RCV002472635] |
ChrX:53731940..63932866 [GRCh37] ChrX:Xp11.22-q11.2 |
likely pathogenic |
GRCh37/hg19 Xp11.21(chrX:56457791-56721134)x3 |
copy number gain |
not provided [RCV001007305] |
ChrX:56457791..56721134 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001260915]|not provided [RCV004697043]|not specified [RCV002249676] |
ChrX:56565192 [GRCh38] ChrX:56591625 [GRCh37] ChrX:Xp11.21 |
likely pathogenic|uncertain significance |
NM_013444.4(UBQLN2):c.1663C>T (p.Pro555Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV004696621] |
ChrX:56565536 [GRCh38] ChrX:56591969 [GRCh37] ChrX:Xp11.21 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.278A>G (p.His93Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003772002]|not provided [RCV001758452] |
ChrX:56564151 [GRCh38] ChrX:56590584 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001810079] |
ChrX:56564597 [GRCh38] ChrX:56591030 [GRCh37] ChrX:Xp11.21 |
pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 Xp11.21(chrX:56218598-56798106) |
copy number gain |
not specified [RCV002053134] |
ChrX:56218598..56798106 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001906076] |
ChrX:56565468 [GRCh38] ChrX:56591901 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001944256] |
ChrX:56563929 [GRCh38] ChrX:56590362 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002048080] |
ChrX:56564193 [GRCh38] ChrX:56590626 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002015654] |
ChrX:56565363 [GRCh38] ChrX:56591796 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001919418]|UBQLN2-related disorder [RCV004753430] |
ChrX:56563955 [GRCh38] ChrX:56590388 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV001975735] |
ChrX:56565359 [GRCh38] ChrX:56591792 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002075408] |
ChrX:56565607 [GRCh38] ChrX:56592040 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.1029C>A (p.Gly343=) |
single nucleotide variant |
not specified [RCV004783243] |
ChrX:56564902 [GRCh38] ChrX:56591335 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003118500] |
ChrX:56563877 [GRCh38] ChrX:56590310 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.969G>A (p.Pro323=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003121418] |
ChrX:56564842 [GRCh38] ChrX:56591275 [GRCh37] ChrX:Xp11.21 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002991590] |
ChrX:56565667 [GRCh38] ChrX:56592100 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1422G>A (p.Pro474=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003081551] |
ChrX:56565295 [GRCh38] ChrX:56591728 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1698C>T (p.Ala566=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003081552] |
ChrX:56565571 [GRCh38] ChrX:56592004 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1707A>T (p.Gly569=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003081553] |
ChrX:56565580 [GRCh38] ChrX:56592013 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1719A>G (p.Pro573=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003081554] |
ChrX:56565592 [GRCh38] ChrX:56592025 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003055489] |
ChrX:56565046 [GRCh38] ChrX:56591479 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.1416G>C (p.Leu472=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003081550] |
ChrX:56565289 [GRCh38] ChrX:56591722 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.462T>C (p.Leu154=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003054280] |
ChrX:56564335 [GRCh38] ChrX:56590768 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.186G>A (p.Ser62=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003025751] |
ChrX:56564059 [GRCh38] ChrX:56590492 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002573768] |
ChrX:56565474 [GRCh38] ChrX:56591907 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002600721] |
ChrX:56564304 [GRCh38] ChrX:56590737 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003071333]|not provided [RCV003886597] |
ChrX:56565446 [GRCh38] ChrX:56591879 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003070431] |
ChrX:56565595 [GRCh38] ChrX:56592028 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002604745]|UBQLN2-related disorder [RCV004753569] |
ChrX:56564933 [GRCh38] ChrX:56591366 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002584182] |
ChrX:56565625 [GRCh38] ChrX:56592058 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003050615] |
ChrX:56564337 [GRCh38] ChrX:56590770 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002608882] |
ChrX:56564913 [GRCh38] ChrX:56591346 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003777307]|not provided [RCV003319099] |
ChrX:56565441 [GRCh38] ChrX:56591874 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003875021] |
ChrX:56564159 [GRCh38] ChrX:56590592 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1596C>T (p.Gly532=) |
single nucleotide variant |
not provided [RCV003430554] |
ChrX:56565469 [GRCh38] ChrX:56591902 [GRCh37] ChrX:Xp11.21 |
likely benign |
GRCh37/hg19 Xp11.21(chrX:56246851-56758100)x2 |
copy number gain |
not provided [RCV003483961] |
ChrX:56246851..56758100 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.253G>C (p.Asp85His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005100303]|not provided [RCV003480411] |
ChrX:56564126 [GRCh38] ChrX:56590559 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.144G>A (p.Val48=) |
single nucleotide variant |
not provided [RCV003430553] |
ChrX:56564017 [GRCh38] ChrX:56590450 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.159G>T (p.Ser53=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003527036] |
ChrX:56564032 [GRCh38] ChrX:56590465 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1001C>T (p.Thr334Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003527130] |
ChrX:56564874 [GRCh38] ChrX:56591307 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003525839]|UBQLN2-related disorder [RCV003929228] |
ChrX:56564941 [GRCh38] ChrX:56591374 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003526626] |
ChrX:56565457 [GRCh38] ChrX:56591890 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003525538] |
ChrX:56564053 [GRCh38] ChrX:56590486 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003526263] |
ChrX:56565606 [GRCh38] ChrX:56592039 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003525764] |
ChrX:56564696 [GRCh38] ChrX:56591129 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003833877] |
ChrX:56565376 [GRCh38] ChrX:56591809 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.399C>T (p.Ser133=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003836628] |
ChrX:56564272 [GRCh38] ChrX:56590705 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003836143] |
ChrX:56565396 [GRCh38] ChrX:56591829 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003850878] |
ChrX:56565148 [GRCh38] ChrX:56591581 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003641991] |
ChrX:56564922 [GRCh38] ChrX:56591355 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003641135]|not specified [RCV004676240] |
ChrX:56564954 [GRCh38] ChrX:56591387 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003642295] |
ChrX:56565337 [GRCh38] ChrX:56591770 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003642328] |
ChrX:56565652 [GRCh38] ChrX:56592085 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003641737] |
ChrX:56565452 [GRCh38] ChrX:56591885 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.165G>A (p.Gln55=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003640819] |
ChrX:56564038 [GRCh38] ChrX:56590471 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.150G>A (p.Glu50=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003640514] |
ChrX:56564023 [GRCh38] ChrX:56590456 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003640810] |
ChrX:56563942 [GRCh38] ChrX:56590375 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003641315] |
ChrX:56564313 [GRCh38] ChrX:56590746 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003641537] |
ChrX:56564652 [GRCh38] ChrX:56591085 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003641655] |
ChrX:56564518 [GRCh38] ChrX:56590951 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1437T>G (p.Gly479=) |
single nucleotide variant |
UBQLN2-related disorder [RCV003899011] |
ChrX:56565310 [GRCh38] ChrX:56591743 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.348C>T (p.Ser116=) |
single nucleotide variant |
UBQLN2-related disorder [RCV003936828] |
ChrX:56564221 [GRCh38] ChrX:56590654 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.981G>C (p.Gln327His) |
single nucleotide variant |
not specified [RCV004526332] |
ChrX:56564854 [GRCh38] ChrX:56591287 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1818A>C (p.Ala606=) |
single nucleotide variant |
not specified [RCV004526560] |
ChrX:56565691 [GRCh38] ChrX:56592124 [GRCh37] ChrX:Xp11.21 |
likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 |
copy number gain |
Klinefelter syndrome [RCV004579655] |
ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
NM_013444.4(UBQLN2):c.1126A>G (p.Ile376Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV004595289] |
ChrX:56564999 [GRCh38] ChrX:56591432 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.341A>G (p.Gln114Arg) |
single nucleotide variant |
not specified [RCV004677863] |
ChrX:56564214 [GRCh38] ChrX:56590647 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.-4C>T |
single nucleotide variant |
not provided [RCV004598858] |
ChrX:56563870 [GRCh38] ChrX:56590303 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.111G>T (p.Val37=) |
single nucleotide variant |
UBQLN2-related disorder [RCV004753860] |
ChrX:56563984 [GRCh38] ChrX:56590417 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.202C>G (p.Gln68Glu) |
single nucleotide variant |
UBQLN2-related disorder [RCV004731391] |
ChrX:56564075 [GRCh38] ChrX:56590508 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NC_000023.10:g.(?_54610638)_(154689386_?)dup |
duplication |
Hereditary factor VIII deficiency disease [RCV004768478] |
ChrX:54610638..154689386 [GRCh37] ChrX:Xp11.22-q28 |
uncertain significance |
NM_013444.4(UBQLN2):c.1366A>G (p.Met456Val) |
single nucleotide variant |
UBQLN2-related disorder [RCV004731781] |
ChrX:56565239 [GRCh38] ChrX:56591672 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1497_1550del (p.Ile501_Pro518del) |
deletion |
UBQLN2-related disorder [RCV004730398] |
ChrX:56565362..56565415 [GRCh38] ChrX:56591795..56591848 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.844G>A (p.Ala282Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005105386]|not provided [RCV005052567] |
ChrX:56564717 [GRCh38] ChrX:56591150 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1524C>G (p.Thr508=) |
single nucleotide variant |
not provided [RCV005000794] |
ChrX:56565397 [GRCh38] ChrX:56591830 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.438G>A (p.Gly146=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005146451] |
ChrX:56564311 [GRCh38] ChrX:56590744 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1219G>T (p.Ala407Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005174580] |
ChrX:56565092 [GRCh38] ChrX:56591525 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1094G>C (p.Ser365Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005158054] |
ChrX:56564967 [GRCh38] ChrX:56591400 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1144C>T (p.Leu382=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005069792] |
ChrX:56565017 [GRCh38] ChrX:56591450 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1640C>T (p.Thr547Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005117053] |
ChrX:56565513 [GRCh38] ChrX:56591946 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1533_1550del (p.510IGP[1]) |
deletion |
Amyotrophic lateral sclerosis type 15 [RCV005113615] |
ChrX:56565398..56565415 [GRCh38] ChrX:56591831..56591848 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1713T>C (p.Asn571=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005072941] |
ChrX:56565586 [GRCh38] ChrX:56592019 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.724G>T (p.Ala242Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005190649] |
ChrX:56564597 [GRCh38] ChrX:56591030 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.171T>G (p.Phe57Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005166489] |
ChrX:56564044 [GRCh38] ChrX:56590477 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1527C>T (p.Pro509=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005151450] |
ChrX:56565400 [GRCh38] ChrX:56591833 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1331C>T (p.Ser444Leu) |
single nucleotide variant |
not provided [RCV005241924] |
ChrX:56565204 [GRCh38] ChrX:56591637 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.834G>C (p.Pro278=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005136883] |
ChrX:56564707 [GRCh38] ChrX:56591140 [GRCh37] ChrX:Xp11.21 |
benign |
NM_013444.4(UBQLN2):c.846C>A (p.Ala282=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005111669] |
ChrX:56564719 [GRCh38] ChrX:56591152 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.904G>C (p.Gly302Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005169620] |
ChrX:56564777 [GRCh38] ChrX:56591210 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.519G>C (p.Gln173His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005137794] |
ChrX:56564392 [GRCh38] ChrX:56590825 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1602G>A (p.Thr534=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005159995] |
ChrX:56565475 [GRCh38] ChrX:56591908 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1591G>C (p.Gly531Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005165813] |
ChrX:56565464 [GRCh38] ChrX:56591897 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1803G>A (p.Leu601=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005190301] |
ChrX:56565676 [GRCh38] ChrX:56592109 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1039A>G (p.Ser347Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005187361] |
ChrX:56564912 [GRCh38] ChrX:56591345 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.990A>G (p.Ala330=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005071427] |
ChrX:56564863 [GRCh38] ChrX:56591296 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.809G>T (p.Arg270Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005181506] |
ChrX:56564682 [GRCh38] ChrX:56591115 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1728G>A (p.Pro576=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005129937] |
ChrX:56565601 [GRCh38] ChrX:56592034 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1512A>G (p.Ile504Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005414442] |
ChrX:56565385 [GRCh38] ChrX:56591818 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1555A>G (p.Thr519Ala) |
single nucleotide variant |
not provided [RCV005402441] |
ChrX:56565428 [GRCh38] ChrX:56591861 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1616C>G (p.Ser539Cys) |
single nucleotide variant |
not provided [RCV005410737] |
ChrX:56565489 [GRCh38] ChrX:56591922 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.433T>C (p.Leu145=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005108632] |
ChrX:56564306 [GRCh38] ChrX:56590739 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.138C>T (p.Phe46=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV002587705] |
ChrX:56564011 [GRCh38] ChrX:56590444 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1007C>T (p.Thr336Ile) |
single nucleotide variant |
not specified [RCV004259296] |
ChrX:56564880 [GRCh38] ChrX:56591313 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.267G>T (p.Gln89His) |
single nucleotide variant |
not provided [RCV003228542] |
ChrX:56564140 [GRCh38] ChrX:56590573 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1619G>C (p.Ser540Thr) |
single nucleotide variant |
not provided [RCV003329763] |
ChrX:56565492 [GRCh38] ChrX:56591925 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003486284] |
ChrX:56565395 [GRCh38] ChrX:56591828 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1517C>T (p.Pro506Leu) |
single nucleotide variant |
UBQLN2-related disorder [RCV003402318] |
ChrX:56565390 [GRCh38] ChrX:56591823 [GRCh37] ChrX:Xp11.21 |
likely pathogenic |
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003525603]|not provided [RCV005220743] |
ChrX:56563949 [GRCh38] ChrX:56590382 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003527495] |
ChrX:56564850 [GRCh38] ChrX:56591283 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003525667] |
ChrX:56564901 [GRCh38] ChrX:56591334 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) |
copy number loss |
not specified [RCV003986240] |
ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV003642273]|not specified [RCV004877827] |
ChrX:56565191 [GRCh38] ChrX:56591624 [GRCh37] ChrX:Xp11.21 |
likely benign|uncertain significance |
NM_013444.4(UBQLN2):c.141G>A (p.Ala47=) |
single nucleotide variant |
UBQLN2-related disorder [RCV003934524]|not provided [RCV005242514] |
ChrX:56564014 [GRCh38] ChrX:56590447 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1728G>C (p.Pro576=) |
single nucleotide variant |
UBQLN2-related disorder [RCV003913854] |
ChrX:56565601 [GRCh38] ChrX:56592034 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1457G>C (p.Gly486Ala) |
single nucleotide variant |
UBQLN2-related disorder [RCV003974217] |
ChrX:56565330 [GRCh38] ChrX:56591763 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.683C>A (p.Pro228Gln) |
single nucleotide variant |
UBQLN2-related disorder [RCV004753887] |
ChrX:56564556 [GRCh38] ChrX:56590989 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.901T>C (p.Ser301Pro) |
single nucleotide variant |
UBQLN2-related disorder [RCV004752660] |
ChrX:56564774 [GRCh38] ChrX:56591207 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.80C>T (p.Pro27Leu) |
single nucleotide variant |
not specified [RCV004883820] |
ChrX:56563953 [GRCh38] ChrX:56590386 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.1619G>A (p.Ser540Asn) |
single nucleotide variant |
not specified [RCV004883821] |
ChrX:56565492 [GRCh38] ChrX:56591925 [GRCh37] ChrX:Xp11.21 |
uncertain significance |
NM_013444.4(UBQLN2):c.39C>A (p.Pro13=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005065752] |
ChrX:56563912 [GRCh38] ChrX:56590345 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1758G>T (p.Leu586=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005185645] |
ChrX:56565631 [GRCh38] ChrX:56592064 [GRCh37] ChrX:Xp11.21 |
likely benign |
NM_013444.4(UBQLN2):c.1764G>A (p.Gln588=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 15 [RCV005168904] |
ChrX:56565637 [GRCh38] ChrX:56592070 [GRCh37] ChrX:Xp11.21 |
uncertain significance |