NM_001278116.2(L1CAM):c.1267C>T (p.Gln423Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000792269]|not provided [RCV000520443] |
ChrX:153869520 [GRCh38] ChrX:153134975 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1780del (p.Ser594fs) |
deletion |
not provided [RCV000523553] |
ChrX:153868046 [GRCh38] ChrX:153133501 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) |
single nucleotide variant |
Inborn genetic diseases [RCV002384067]|Spastic paraplegia [RCV000556944]|not provided [RCV000996048]|not specified [RCV000731960] |
ChrX:153870063 [GRCh38] ChrX:153135518 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3458-1G>C |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000022879] |
ChrX:153863550 [GRCh38] ChrX:153129005 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3770A>G (p.Glu1257Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000545618] |
ChrX:153862667 [GRCh38] ChrX:153128122 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3457+18C>T |
single nucleotide variant |
Spastic paraplegia [RCV000552594]|not provided [RCV001613343] |
ChrX:153863865 [GRCh38] ChrX:153129320 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter) |
single nucleotide variant |
not provided [RCV000727583] |
ChrX:153864443 [GRCh38] ChrX:153129898 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.400G>A (p.Gly134Ser) |
single nucleotide variant |
not specified [RCV000519281] |
ChrX:153872152 [GRCh38] ChrX:153137607 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1983del (p.Lys661fs) |
deletion |
not provided [RCV000519174] |
ChrX:153867510 [GRCh38] ChrX:153132965 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2432-19A>C |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000010666] |
ChrX:153865838 [GRCh38] ChrX:153131293 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000010667] |
ChrX:153870403 [GRCh38] ChrX:153135858 [GRCh37] ChrX:Xq28 |
pathogenic |
L1CAM, 1.3-KB DUP |
duplication |
X-linked hydrocephalus syndrome [RCV000010668] |
ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln) |
single nucleotide variant |
MASA syndrome [RCV000010669] |
ChrX:153870854 [GRCh38] ChrX:153136309 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) |
single nucleotide variant |
MASA syndrome [RCV000010670] |
ChrX:153868034 [GRCh38] ChrX:153133489 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) |
single nucleotide variant |
Hydrocephalus due to aqueductal stenosis [RCV000503947]|L1 syndrome [RCV001553633]|Spastic paraplegia [RCV000685761]|X-linked hydrocephalus syndrome [RCV000010671]|not provided [RCV000254986] |
ChrX:153868866 [GRCh38] ChrX:153134321 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002345239]|L1 syndrome [RCV001824565]|X-linked hydrocephalus syndrome [RCV000010672] |
ChrX:153870933 [GRCh38] ChrX:153136388 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs) |
deletion |
MASA syndrome [RCV000010673] |
ChrX:153863517..153863518 [GRCh38] ChrX:153128972..153128973 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002460037]|MASA syndrome [RCV000010675]|Severe hydrocephalus [RCV001257378]|X-linked hydrocephalus syndrome [RCV000010674]|not provided [RCV000413812] |
ChrX:153862856 [GRCh38] ChrX:153128311 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) |
single nucleotide variant |
MASA syndrome [RCV000010676] |
ChrX:153870948 [GRCh38] ChrX:153136403 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) |
single nucleotide variant |
MASA syndrome [RCV000010677]|Spastic paraplegia [RCV000815545]|X-linked hydrocephalus syndrome [RCV001198070]|not provided [RCV000255983] |
ChrX:153869818 [GRCh38] ChrX:153135273 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) |
deletion |
X-linked hydrocephalus syndrome [RCV003151717] |
ChrX:153866658..153866659 [GRCh38] ChrX:153132113..153132114 [GRCh37] ChrX:Xq28 |
pathogenic |
L1CAM, 924C-T |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000010679] |
ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV003151718]|not provided [RCV001794442] |
ChrX:153866826 [GRCh38] ChrX:153132281 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1939+5G>A |
single nucleotide variant |
Spastic paraplegia [RCV000794947]|X-linked hydrocephalus syndrome [RCV003151719] |
ChrX:153867795 [GRCh38] ChrX:153133250 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter) |
single nucleotide variant |
Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction [RCV000010682]|not provided [RCV000430013] |
ChrX:153864893 [GRCh38] ChrX:153130348 [GRCh37] ChrX:Xq28 |
pathogenic |
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_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV001257991]|X-linked complicated corpus callosum dysgenesis [RCV000010684]|X-linked hydrocephalus syndrome [RCV000010683]|not provided [RCV001093004] |
ChrX:153870475 [GRCh38] ChrX:153135930 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.2209-42_2229del |
deletion |
not provided [RCV000520445] |
ChrX:153866851..153866913 [GRCh38] ChrX:153132306..153132368 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.785T>G (p.Leu262Arg) |
single nucleotide variant |
not provided [RCV000522968] |
ChrX:153870409 [GRCh38] ChrX:153135864 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met) |
single nucleotide variant |
Spastic paraplegia [RCV002527490]|not specified [RCV000517132] |
ChrX:153868916 [GRCh38] ChrX:153134371 [GRCh37] ChrX:Xq28 |
likely benign|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 Xq28(chrX:150036146-156022206)x3 |
copy number gain |
See cases [RCV000050946] |
ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28 |
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:10679-156022206)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 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 Xq28(chrX:149989929-156022206)x3 |
copy number gain |
See cases [RCV000050657] |
ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28 |
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 Xq23-28(chrX:115417992-156022206)x1 |
copy number loss |
See cases [RCV000051160] |
ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] |
ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 |
copy number loss |
See cases [RCV000051750] |
ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 |
copy number loss |
See cases [RCV000051728] |
ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 |
copy number loss |
See cases [RCV000051729] |
ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 |
copy number loss |
See cases [RCV000051732] |
ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] |
ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
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 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: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 Xq28(chrX:153722500-154367160)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] |
ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 |
copy number gain |
See cases [RCV000052525] |
ChrX:153769547..154394658 [GRCh38] ChrX:152688196..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 |
copy number gain |
See cases [RCV000052527] |
ChrX:153777340..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152695989..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 |
copy number gain |
See cases [RCV000052528] |
ChrX:153787044..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152705693..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] |
ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 |
copy number gain |
See cases [RCV000052491] |
ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 |
copy number gain |
See cases [RCV000052492] |
ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 |
copy number gain |
See cases [RCV000052445] |
ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 |
copy number gain |
See cases [RCV000052471] |
ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 |
copy number gain |
See cases [RCV000052474] |
ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 |
copy number gain |
See cases [RCV000052475] |
ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] |
ChrX:153585420..154427385 [GRCh38] ChrX:152864376..153655730 [GRCh37] ChrX:152504072..153308924 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 |
copy number gain |
See cases [RCV000052522] |
ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 |
copy number gain |
See cases [RCV000052523] |
ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [NCBI36] ChrX:Xq28 |
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: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: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 |
NM_000425.4(L1CAM):c.2365C>T (p.Gln789Ter) |
single nucleotide variant |
Malignant melanoma [RCV000073125] |
ChrX:153866715 [GRCh38] ChrX:153132170 [GRCh37] ChrX:152785364 [NCBI36] ChrX:Xq28 |
not provided |
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) |
single nucleotide variant |
Inborn genetic diseases [RCV003163045]|MASA syndrome [RCV000660611]|not provided [RCV000992267] |
ChrX:153862783 [GRCh38] ChrX:153128238 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.26G>A (p.Trp9Ter) |
single nucleotide variant |
not provided [RCV000657775] |
ChrX:153875811 [GRCh38] ChrX:153141266 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1021A>C (p.Ser341Arg) |
single nucleotide variant |
not provided [RCV000078725] |
ChrX:153869905 [GRCh38] ChrX:153135360 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1268-10C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847647]|Inborn genetic diseases [RCV002371926]|Spastic paraplegia [RCV000462803]|not provided [RCV001711180]|not specified [RCV000078726] |
ChrX:153868962 [GRCh38] ChrX:153134417 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001278116.2(L1CAM):c.1704-14C>T |
single nucleotide variant |
Spastic paraplegia [RCV002055097]|not provided [RCV001534923]|not specified [RCV000078727] |
ChrX:153868136 [GRCh38] ChrX:153133591 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) |
single nucleotide variant |
Spastic paraplegia [RCV002055098]|not provided [RCV000078728] |
ChrX:153867859 [GRCh38] ChrX:153133314 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.197+17G>A |
single nucleotide variant |
Spastic paraplegia [RCV001516003]|not provided [RCV001598620]|not specified [RCV000078729] |
ChrX:153872575 [GRCh38] ChrX:153138030 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT |
insertion |
Spastic paraplegia [RCV001473187]|not provided [RCV000078730] |
ChrX:153867350..153867351 [GRCh38] ChrX:153132805..153132806 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.2209-6C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847648]|Spastic paraplegia [RCV000471972]|not provided [RCV001689622]|not specified [RCV000078731] |
ChrX:153866877 [GRCh38] ChrX:153132332 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847649]|Inborn genetic diseases [RCV002313749]|Spastic paraplegia [RCV001083170]|not provided [RCV000439917]|not specified [RCV000194324] |
ChrX:153866778 [GRCh38] ChrX:153132233 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847650]|Inborn genetic diseases [RCV002313750]|Spastic paraplegia [RCV000465084]|not provided [RCV001636637]|not specified [RCV000078733] |
ChrX:153866773 [GRCh38] ChrX:153132228 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001278116.2(L1CAM):c.23del (p.Val8fs) |
deletion |
not provided [RCV000173129] |
ChrX:153875814 [GRCh38] ChrX:153141269 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2872+9G>A |
single nucleotide variant |
not provided [RCV000723569]|not specified [RCV000194623] |
ChrX:153865079 [GRCh38] ChrX:153130534 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847651]|Inborn genetic diseases [RCV002311557]|Spastic paraplegia [RCV001084616]|not provided [RCV000224902]|not specified [RCV000078736] |
ChrX:153865088 [GRCh38] ChrX:153130543 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs) |
deletion |
not provided [RCV000176265] |
ChrX:153864988 [GRCh38] ChrX:153130443 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002313751]|Spastic paraplegia [RCV001087331]|not provided [RCV000224350]|not specified [RCV000078738] |
ChrX:153875809 [GRCh38] ChrX:153141264 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001854387]|not provided [RCV000078739] |
ChrX:153864853 [GRCh38] ChrX:153130308 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316222]|Spastic paraplegia [RCV001087351]|not provided [RCV000633088]|not specified [RCV000078740] |
ChrX:153864670 [GRCh38] ChrX:153130125 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.630C>T (p.His210=) |
single nucleotide variant |
Spastic paraplegia [RCV002515756]|not provided [RCV000078741] |
ChrX:153870854 [GRCh38] ChrX:153136309 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847652]|Inborn genetic diseases [RCV002311558]|Spastic paraplegia [RCV000475340]|not provided [RCV001647050]|not specified [RCV000078742] |
ChrX:153870474 [GRCh38] ChrX:153135929 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) |
single nucleotide variant |
not provided [RCV000078743] |
ChrX:153870187 [GRCh38] ChrX:153135642 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
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 |
NM_001278116.2(L1CAM):c.198-9C>A |
single nucleotide variant |
L1CAM-related condition [RCV003399063]|not specified [RCV001290577] |
ChrX:153872363 [GRCh38] ChrX:153137818 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1124-6_1124-3dup |
duplication |
not provided [RCV000171448]|not specified [RCV003235090] |
ChrX:153869665..153869666 [GRCh38] ChrX:153135120..153135121 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) |
single nucleotide variant |
L1CAM-related condition [RCV003407666]|X-linked hydrocephalus syndrome [RCV000180160]|not provided [RCV000724594] |
ChrX:153870123 [GRCh38] ChrX:153135578 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001278116.2(L1CAM):c.2712del (p.Ala906fs) |
deletion |
L1 syndrome [RCV001290587] |
ChrX:153865336 [GRCh38] ChrX:153130791 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847800]|Inborn genetic diseases [RCV002312701]|Spastic paraplegia [RCV000206868]|not specified [RCV000173128] |
ChrX:153875801 [GRCh38] ChrX:153141256 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) |
single nucleotide variant |
MASA syndrome [RCV001332431]|Spastic paraplegia [RCV002546562] |
ChrX:153869826 [GRCh38] ChrX:153135281 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 |
copy number loss |
See cases [RCV000133818] |
ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
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 |
NM_001278116.2(L1CAM):c.1379+3G>A |
single nucleotide variant |
Spastic paraplegia [RCV001512461]|not provided [RCV000174003] |
ChrX:153868838 [GRCh38] ChrX:153134293 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.1316T>C (p.Val439Ala) |
single nucleotide variant |
not provided [RCV000174004] |
ChrX:153868904 [GRCh38] ChrX:153134359 [GRCh37] ChrX:Xq28 |
uncertain significance |
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: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: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 |
NM_001278116.2(L1CAM):c.1547-4T>A |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847807]|Inborn genetic diseases [RCV002399626]|Spastic paraplegia [RCV000549622]|not provided [RCV001530655]|not specified [RCV000174476] |
ChrX:153868462 [GRCh38] ChrX:153133917 [GRCh37] ChrX:Xq28 |
benign|likely benign |
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 |
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 Xq27.3-28(chrX:144627217-155434735)x3 |
copy number gain |
See cases [RCV000133725] |
ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847778]|Hydrocephalus due to aqueductal stenosis [RCV000146245]|Inborn genetic diseases [RCV002453468]|Spastic paraplegia [RCV002515965]|not specified [RCV000431818] |
ChrX:153865714 [GRCh38] ChrX:153131169 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.400+9C>T |
single nucleotide variant |
Hydrocephalus due to aqueductal stenosis [RCV000146246]|Spastic paraplegia [RCV002512577] |
ChrX:153872143 [GRCh38] ChrX:153137598 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847779]|Inborn genetic diseases [RCV002312643]|Spastic paraplegia [RCV000463737]|not provided [RCV001668292]|not specified [RCV000146247] |
ChrX:153870192 [GRCh38] ChrX:153135647 [GRCh37] ChrX:Xq28 |
benign|likely benign |
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 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
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 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
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 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002415749]|Spastic paraplegia [RCV001522149]|not provided [RCV000415952]|not specified [RCV000175007] |
ChrX:153867500 [GRCh38] ChrX:153132955 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) |
single nucleotide variant |
Spastic paraplegia [RCV002056929]|not provided [RCV000175008] |
ChrX:153867531 [GRCh38] ChrX:153132986 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 |
copy number loss |
See cases [RCV000134947] |
ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 |
copy number gain |
See cases [RCV000135840] |
ChrX:153855152..154092314 [GRCh38] ChrX:152773801..153010966 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 |
copy number gain |
See cases [RCV000135451] |
ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28 |
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 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
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 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
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 Xq23-28(chrX:111745722-154555423)x3 |
copy number gain |
See cases [RCV000136030] |
ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
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 Xq25-28(chrX:128473235-156003229)x1 |
copy number loss |
See cases [RCV000136095] |
ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 |
copy number gain |
See cases [RCV000135881] |
ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 |
copy number loss |
See cases [RCV000136912] |
ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
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 Xq28(chrX:153322656-155522304)x2 |
copy number gain |
See cases [RCV000136716] |
ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28 |
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 Xq28(chrX:151750863-155522304)x1 |
copy number loss |
See cases [RCV000136718] |
ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 |
copy number gain |
See cases [RCV000137498] |
ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 |
copy number gain |
See cases [RCV000137536] |
ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 |
copy number gain |
See cases [RCV000137153] |
ChrX:153813894..154140759 [GRCh38] ChrX:152732543..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 |
copy number loss |
See cases [RCV000137257] |
ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 |
copy number loss |
See cases [RCV000137167] |
ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 |
copy number loss |
See cases [RCV000138679] |
ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 |
copy number gain |
See cases [RCV000138393] |
ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
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 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
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 Xq28(chrX:153813894-154383071)x2 |
copy number gain |
See cases [RCV000140524] |
ChrX:153813894..154383071 [GRCh38] ChrX:153079349..153611431 [GRCh37] ChrX:152732543..153264625 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 |
copy number gain |
See cases [RCV000140532] |
ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 |
copy number gain |
See cases [RCV000140537] |
ChrX:153802827..154294817 [GRCh38] ChrX:153068282..153523170 [GRCh37] ChrX:152721476..153176364 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 |
copy number loss |
See cases [RCV000139724] |
ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
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: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)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] 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 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 |
copy number loss |
See cases [RCV000141743] |
ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 |
copy number loss |
See cases [RCV000142137] |
ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 |
copy number gain |
See cases [RCV000142157] |
ChrX:153392250..153934599 [GRCh38] ChrX:152657708..153200052 [GRCh37] ChrX:152310902..152853246 [NCBI36] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 |
copy number gain |
See cases [RCV000143114] |
ChrX:153861449..154140759 [GRCh38] ChrX:152780098..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 |
copy number gain |
See cases [RCV000143002] |
ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 |
copy number loss |
See cases [RCV000142577] |
ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
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 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
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: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 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 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847783]|Inborn genetic diseases [RCV002415650]|Spastic paraplegia [RCV000633108]|not provided [RCV001651024]|not specified [RCV000153424] |
ChrX:153867516 [GRCh38] ChrX:153132971 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312995]|Spastic paraplegia [RCV000633110]|not specified [RCV000153428] |
ChrX:153863488 [GRCh38] ChrX:153128943 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
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 |
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) |
single nucleotide variant |
Spastic paraplegia [RCV002516078]|not provided [RCV000153429] |
ChrX:153864452 [GRCh38] ChrX:153129907 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) |
single nucleotide variant |
MASA syndrome [RCV002492755]|Spastic paraplegia [RCV002516697]|not specified [RCV000176035] |
ChrX:153865391 [GRCh38] ChrX:153130846 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) |
single nucleotide variant |
Spastic paraplegia [RCV000865607]|not provided [RCV001553154]|not specified [RCV000176264] |
ChrX:153864852 [GRCh38] ChrX:153130307 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847869]|Inborn genetic diseases [RCV002317697]|Spastic paraplegia [RCV000231132]|not provided [RCV001529378]|not specified [RCV000192521] |
ChrX:153866869 [GRCh38] ChrX:153132324 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001278116.2(L1CAM):c.807-6G>A |
single nucleotide variant |
L1 syndrome [RCV001582904]|Spastic paraplegia [RCV000470870]|not provided [RCV000255025] |
ChrX:153870246 [GRCh38] ChrX:153135701 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg) |
single nucleotide variant |
not provided [RCV000255190] |
ChrX:153867401 [GRCh38] ChrX:153132856 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847868]|Inborn genetic diseases [RCV002314829]|Spastic paraplegia [RCV000866731]|not specified [RCV000193071] |
ChrX:153868424 [GRCh38] ChrX:153133879 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317046]|Spastic paraplegia [RCV001089013]|not provided [RCV000712207]|not specified [RCV000178097] |
ChrX:153872156 [GRCh38] ChrX:153137611 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002453634]|Spastic paraplegia [RCV002517722]|not provided [RCV000178098] |
ChrX:153872296 [GRCh38] ChrX:153137751 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) |
single nucleotide variant |
Spastic paraplegia [RCV001515064]|not provided [RCV000178099] |
ChrX:153872166 [GRCh38] ChrX:153137621 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.1704-12G>C |
single nucleotide variant |
not specified [RCV000193900] |
ChrX:153868134 [GRCh38] ChrX:153133589 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=) |
single nucleotide variant |
Spastic paraplegia [RCV002054270]|not specified [RCV000194305] |
ChrX:153867387 [GRCh38] ChrX:153132842 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003114346]|not provided [RCV000996050]|not specified [RCV000194913] |
ChrX:153870866 [GRCh38] ChrX:153136321 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) |
single nucleotide variant |
Spastic paraplegia [RCV002054129]|not provided [RCV000179311] |
ChrX:153870893 [GRCh38] ChrX:153136348 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) |
single nucleotide variant |
not provided [RCV000179312] |
ChrX:153870881 [GRCh38] ChrX:153136336 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317065]|Spastic paraplegia [RCV000228863]|not provided [RCV001668345]|not specified [RCV000180502] |
ChrX:153869924 [GRCh38] ChrX:153135379 [GRCh37] ChrX:Xq28 |
benign |
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 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.91+1G>T |
single nucleotide variant |
not specified [RCV000192673] |
ChrX:153873227 [GRCh38] ChrX:153138682 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000195759] |
ChrX:153867800 [GRCh38] ChrX:153133255 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys) |
single nucleotide variant |
Hydrocephalus due to aqueductal stenosis [RCV000192536] |
ChrX:153866729 [GRCh38] ChrX:153132184 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) |
single nucleotide variant |
Hydrocephalus due to aqueductal stenosis [RCV000193744]|L1 syndrome [RCV002509289]|X-linked complicated corpus callosum dysgenesis [RCV000714717]|X-linked hydrocephalus syndrome [RCV000714718]|not provided [RCV000494147] |
ChrX:153866802 [GRCh38] ChrX:153132257 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2614G>T (p.Val872Leu) |
single nucleotide variant |
not specified [RCV000193757] |
ChrX:153865434 [GRCh38] ChrX:153130889 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3531-1G>A |
single nucleotide variant |
MASA syndrome [RCV001786520] |
ChrX:153863380 [GRCh38] ChrX:153128835 [GRCh37] ChrX:Xq28 |
uncertain significance |
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:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000258946] |
ChrX:153868390 [GRCh38] ChrX:153133845 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000633025]|not provided [RCV000255493] |
ChrX:153865707 [GRCh38] ChrX:153131162 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001855005]|X-linked hydrocephalus syndrome [RCV001391257]|not provided [RCV000255535] |
ChrX:153868654 [GRCh38] ChrX:153134109 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.523+12C>T |
single nucleotide variant |
L1 syndrome [RCV001553632]|Spastic paraplegia [RCV001855004]|not provided [RCV000255614] |
ChrX:153871045 [GRCh38] ChrX:153136500 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) |
single nucleotide variant |
L1 syndrome [RCV002229193]|X-linked hydrocephalus syndrome [RCV000211546] |
ChrX:153866700 [GRCh38] ChrX:153132155 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=) |
single nucleotide variant |
Spastic paraplegia [RCV000553935]|not provided [RCV001532219] |
ChrX:153865327 [GRCh38] ChrX:153130782 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.992-2A>G |
single nucleotide variant |
not provided [RCV000224561] |
ChrX:153869936 [GRCh38] ChrX:153135391 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.806+5G>A |
single nucleotide variant |
Spastic paraplegia [RCV000233987] |
ChrX:153870383 [GRCh38] ChrX:153135838 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xq28(chrX:153126942-153141972)x0 |
copy number loss |
See cases [RCV000239792] |
ChrX:153126942..153141972 [GRCh37] ChrX:Xq28 |
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 Xq28(chrX:153047627-153555804)x2 |
copy number gain |
See cases [RCV000239929] |
ChrX:153047627..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 |
copy number gain |
See cases [RCV000239969] |
ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
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:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)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 Xq28(chrX:152993910-153555804)x2 |
copy number gain |
See cases [RCV000240396] |
ChrX:152993910..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3458-34C>T |
single nucleotide variant |
not provided [RCV001707572]|not specified [RCV000248464] |
ChrX:153863583 [GRCh38] ChrX:153129038 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg) |
single nucleotide variant |
Spastic paraplegia [RCV000822372]|not specified [RCV000517896] |
ChrX:153865350 [GRCh38] ChrX:153130805 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 |
copy number gain |
See cases [RCV000240530] |
ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.3322+19G>A |
single nucleotide variant |
Spastic paraplegia [RCV002055038]|not specified [RCV000244308] |
ChrX:153864303 [GRCh38] ChrX:153129758 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
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_001278116.2(L1CAM):c.177del (p.Ser60fs) |
deletion |
not provided [RCV000255965] |
ChrX:153872612 [GRCh38] ChrX:153138067 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 |
copy number loss |
See cases [RCV000240337] |
ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153126942-153141190)x0 |
copy number loss |
See cases [RCV000240503] |
ChrX:153126942..153141190 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2547+1G>A |
single nucleotide variant |
not provided [RCV000256047] |
ChrX:153865703 [GRCh38] ChrX:153131158 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys) |
single nucleotide variant |
L1 syndrome [RCV001251391]|Spastic paraplegia [RCV001063204]|not provided [RCV000256126] |
ChrX:153868690 [GRCh38] ChrX:153134145 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313977]|Spastic paraplegia [RCV000860873]|not provided [RCV001668428]|not specified [RCV000252322] |
ChrX:153872258 [GRCh38] ChrX:153137713 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.1704-34G>C |
single nucleotide variant |
not specified [RCV000242899] |
ChrX:153868156 [GRCh38] ChrX:153133611 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.992-32C>T |
single nucleotide variant |
not provided [RCV001711651]|not specified [RCV000248126] |
ChrX:153869966 [GRCh38] ChrX:153135421 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.1146C>G (p.Tyr382Ter) |
single nucleotide variant |
not provided [RCV000273260] |
ChrX:153869641 [GRCh38] ChrX:153135096 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) |
single nucleotide variant |
Spastic paraplegia [RCV002059214]|not provided [RCV000284128] |
ChrX:153870084 [GRCh38] ChrX:153135539 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) |
single nucleotide variant |
not provided [RCV000290168]|not specified [RCV002271484] |
ChrX:153866772 [GRCh38] ChrX:153132227 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) |
single nucleotide variant |
not provided [RCV000359762] |
ChrX:153869538 [GRCh38] ChrX:153134993 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) |
single nucleotide variant |
Spastic paraplegia [RCV002059183]|not provided [RCV000265468] |
ChrX:153869819 [GRCh38] ChrX:153135274 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.1469_1474del (p.Asn490_Asp491del) |
deletion |
not provided [RCV000490194] |
ChrX:153868633..153868638 [GRCh38] ChrX:153134088..153134093 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1123+5G>A |
single nucleotide variant |
not provided [RCV000522923] |
ChrX:153869798 [GRCh38] ChrX:153135253 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3323-24dup |
duplication |
Spastic paraplegia [RCV002060205]|not provided [RCV000514788]|not specified [RCV000601751] |
ChrX:153864035..153864036 [GRCh38] ChrX:153129490..153129491 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3352G>C (p.Ala1118Pro) |
single nucleotide variant |
not provided [RCV003223825] |
ChrX:153863988 [GRCh38] ChrX:153129443 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3774G>C (p.Ter1258Tyr) |
single nucleotide variant |
not provided [RCV000519922] |
ChrX:153862663 [GRCh38] ChrX:153128118 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.23T>A (p.Val8Glu) |
single nucleotide variant |
not provided [RCV000314558] |
ChrX:153875814 [GRCh38] ChrX:153141269 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2849G>A (p.Gly950Asp) |
single nucleotide variant |
not provided [RCV000292448] |
ChrX:153865111 [GRCh38] ChrX:153130566 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153128098)_(153141311_?)del |
deletion |
Spastic paraplegia [RCV000550964] |
ChrX:153128098..153141311 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.232C>T (p.Pro78Ser) |
single nucleotide variant |
Spastic paraplegia [RCV001457196]|not specified [RCV000604142] |
ChrX:153872320 [GRCh38] ChrX:153137775 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.219T>C (p.Gly73=) |
single nucleotide variant |
not provided [RCV000592176] |
ChrX:153872333 [GRCh38] ChrX:153137788 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1704-1G>A |
single nucleotide variant |
L1CAM-related condition [RCV003403410]|not provided [RCV000598815] |
ChrX:153868123 [GRCh38] ChrX:153133578 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2918_2919del (p.Pro973fs) |
deletion |
not provided [RCV000599167] |
ChrX:153864948..153864949 [GRCh38] ChrX:153130403..153130404 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1267+1G>A |
single nucleotide variant |
L1 syndrome [RCV001260406]|Spastic paraplegia [RCV001221488]|not provided [RCV000522273] |
ChrX:153869519 [GRCh38] ChrX:153134974 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.3166+1G>A |
single nucleotide variant |
L1 syndrome [RCV000790407] |
ChrX:153864584 [GRCh38] ChrX:153130039 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002314948]|MASA syndrome [RCV002497076]|Spastic paraplegia [RCV000524706]|not provided [RCV001653889]|not specified [RCV001662537] |
ChrX:153872676 [GRCh38] ChrX:153138131 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.2911C>T (p.Arg971Trp) |
single nucleotide variant |
not specified [RCV000413228] |
ChrX:153864956 [GRCh38] ChrX:153130411 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.170G>A (p.Cys57Tyr) |
single nucleotide variant |
not provided [RCV000413431] |
ChrX:153872619 [GRCh38] ChrX:153138074 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1939+5G>C |
single nucleotide variant |
not provided [RCV000413779] |
ChrX:153867795 [GRCh38] ChrX:153133250 [GRCh37] ChrX:Xq28 |
likely 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 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
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:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
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 Xq28(chrX:152228560-154930047)x2 |
copy number gain |
See cases [RCV000447331] |
ChrX:152228560..154930047 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
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 Xq28(chrX:152970475-153524157)x2 |
copy number gain |
See cases [RCV000447506] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-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:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [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 Xq28(chrX:150253008-155233731)x1 |
copy number loss |
See cases [RCV000446761] |
ChrX:150253008..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153126942-153143271)x1 |
copy number loss |
See cases [RCV000446311] |
ChrX:153126942..153143271 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
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:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.-45T>A |
single nucleotide variant |
not specified [RCV000438963] |
ChrX:153875881 [GRCh38] ChrX:153141336 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=) |
single nucleotide variant |
not specified [RCV000428829] |
ChrX:153864652 [GRCh38] ChrX:153130107 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.523+16C>T |
single nucleotide variant |
not specified [RCV000433056] |
ChrX:153871041 [GRCh38] ChrX:153136496 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=) |
single nucleotide variant |
Inborn genetic diseases [RCV002429399]|Spastic paraplegia [RCV002062724]|not specified [RCV000440185] |
ChrX:153865351 [GRCh38] ChrX:153130806 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.2343C>G (p.Phe781Leu) |
single nucleotide variant |
not provided [RCV000433806] |
ChrX:153866737 [GRCh38] ChrX:153132192 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter) |
single nucleotide variant |
not provided [RCV000441590] |
ChrX:153865818 [GRCh38] ChrX:153131273 [GRCh37] ChrX:Xq28 |
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:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 |
copy number gain |
See cases [RCV000448796] |
ChrX:152886474..153368990 [GRCh37] ChrX:Xq28 |
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 Xq25-28(chrX:126773628-155233731)x1 |
copy number loss |
See cases [RCV000448724] |
ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
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 Xq26.3-28(chrX:134114063-155233731)x1 |
copy number loss |
See cases [RCV000448865] |
ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.1899G>C (p.Val633=) |
single nucleotide variant |
Spastic paraplegia [RCV003103789] |
ChrX:153867840 [GRCh38] ChrX:153133295 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1028_1032dup (p.Gly345fs) |
duplication |
not provided [RCV000481500] |
ChrX:153869893..153869894 [GRCh38] ChrX:153135348..153135349 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153129338)_(153131274_?)del |
deletion |
Spastic paraplegia [RCV000463166] |
ChrX:153129338..153131274 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2249A>C (p.Tyr750Ser) |
single nucleotide variant |
not provided [RCV000483657] |
ChrX:153866831 [GRCh38] ChrX:153132286 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001278116.2(L1CAM):c.806+1G>C |
single nucleotide variant |
Spastic paraplegia [RCV002526546]|not provided [RCV000484761] |
ChrX:153870387 [GRCh38] ChrX:153135842 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002525764]|not provided [RCV000484845] |
ChrX:153869928 [GRCh38] ChrX:153135383 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.452G>A (p.Gly151Glu) |
single nucleotide variant |
not provided [RCV000481510] |
ChrX:153871128 [GRCh38] ChrX:153136583 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1939+1G>A |
single nucleotide variant |
not provided [RCV000485549] |
ChrX:153867799 [GRCh38] ChrX:153133254 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2370C>T (p.Ala790=) |
single nucleotide variant |
Spastic paraplegia [RCV001418283] |
ChrX:153866710 [GRCh38] ChrX:153132165 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002525939]|not provided [RCV000479930] |
ChrX:153863484 [GRCh38] ChrX:153128939 [GRCh37] ChrX:Xq28 |
likely pathogenic|likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV001262258]|not provided [RCV000487331] |
ChrX:153868699 [GRCh38] ChrX:153134154 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1445T>C (p.Leu482Pro) |
single nucleotide variant |
not provided [RCV000478627] |
ChrX:153868662 [GRCh38] ChrX:153134117 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1828+5G>T |
single nucleotide variant |
not provided [RCV000480495] |
ChrX:153867993 [GRCh38] ChrX:153133448 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 |
copy number gain |
See cases [RCV000510478] |
ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311820]|Spastic paraplegia [RCV002060125]|not specified [RCV000503444] |
ChrX:153862765 [GRCh38] ChrX:153128220 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) |
single nucleotide variant |
Spastic paraplegia [RCV000542375]|not specified [RCV000501462] |
ChrX:153863928 [GRCh38] ChrX:153129383 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000678319]|not provided [RCV000497542] |
ChrX:153870490 [GRCh38] ChrX:153135945 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.2431+5G>A |
single nucleotide variant |
Spastic paraplegia [RCV001234704]|not provided [RCV000497711] |
ChrX:153866644 [GRCh38] ChrX:153132099 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter) |
single nucleotide variant |
Hydrocephalus due to aqueductal stenosis [RCV000502360] |
ChrX:153864698 [GRCh38] ChrX:153130153 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1704G>A (p.Lys568=) |
single nucleotide variant |
not specified [RCV000502483] |
ChrX:153868122 [GRCh38] ChrX:153133577 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848871]|Inborn genetic diseases [RCV002413377]|Spastic paraplegia [RCV001517300]|not specified [RCV000500394] |
ChrX:153868067 [GRCh38] ChrX:153133522 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.502del (p.Arg168fs) |
deletion |
not provided [RCV000498241] |
ChrX:153871078 [GRCh38] ChrX:153136533 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 |
copy number gain |
See cases [RCV000510362] |
ChrX:153097608..153681801 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) |
single nucleotide variant |
Inborn genetic diseases [RCV002350120]|Spastic paraplegia [RCV002056853]|not specified [RCV000500638] |
ChrX:153862795 [GRCh38] ChrX:153128250 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.1187C>A (p.Pro396His) |
single nucleotide variant |
not specified [RCV000500893] |
ChrX:153869600 [GRCh38] ChrX:153135055 [GRCh37] ChrX:Xq28 |
likely benign |
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 |
NM_001278116.2(L1CAM):c.1767C>A (p.Tyr589Ter) |
single nucleotide variant |
not provided [RCV000494118] |
ChrX:153868059 [GRCh38] ChrX:153133514 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_001278116.2(L1CAM):c.1485C>G (p.Tyr495Ter) |
single nucleotide variant |
not provided [RCV000494608] |
ChrX:153868622 [GRCh38] ChrX:153134077 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2205G>A (p.Trp735Ter) |
single nucleotide variant |
not provided [RCV000494635] |
ChrX:153867057 [GRCh38] ChrX:153132512 [GRCh37] ChrX:Xq28 |
likely 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 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.826T>A (p.Trp276Arg) |
single nucleotide variant |
not provided [RCV000492967] |
ChrX:153870221 [GRCh38] ChrX:153135676 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
NM_001278116.2(L1CAM):c.266C>A (p.Ser89Ter) |
single nucleotide variant |
not provided [RCV000493177] |
ChrX:153872286 [GRCh38] ChrX:153137741 [GRCh37] ChrX:Xq28 |
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 |
NM_001278116.2(L1CAM):c.2438dup (p.Ala814fs) |
duplication |
not provided [RCV000493415] |
ChrX:153865812..153865813 [GRCh38] ChrX:153131267..153131268 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 |
copy number loss |
See cases [RCV000511228] |
ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 |
copy number gain |
See cases [RCV000511034] |
ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 |
copy number loss |
See cases [RCV000510866] |
ChrX:151963528..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 |
copy number loss |
See cases [RCV000510920] |
ChrX:151311551..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-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 |
NC_000023.10:g.(?_153132791)_(153141311_?)del |
deletion |
Spastic paraplegia [RCV000633117] |
ChrX:153132791..153141311 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) |
single nucleotide variant |
MASA syndrome [RCV002298692]|Spastic paraplegia [RCV001044106]|not provided [RCV000579326] |
ChrX:153868333 [GRCh38] ChrX:153133788 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000633032]|not provided [RCV001766346] |
ChrX:153867451 [GRCh38] ChrX:153132906 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153128098)_(153599633_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] |
ChrX:153128098..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1358C>T (p.Ala453Val) |
single nucleotide variant |
Spastic paraplegia [RCV000539404] |
ChrX:153868862 [GRCh38] ChrX:153134317 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3323-11C>G |
single nucleotide variant |
not specified [RCV000612701] |
ChrX:153864028 [GRCh38] ChrX:153129483 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.401-16C>T |
single nucleotide variant |
not specified [RCV000601847] |
ChrX:153871195 [GRCh38] ChrX:153136650 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3542+14G>A |
single nucleotide variant |
Spastic paraplegia [RCV002062941]|not specified [RCV000614217] |
ChrX:153863354 [GRCh38] ChrX:153128809 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002524421]|X-linked complicated corpus callosum dysgenesis [RCV000656097] |
ChrX:153864588 [GRCh38] ChrX:153130043 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.2368G>C (p.Ala790Pro) |
single nucleotide variant |
not provided [RCV003239115] |
ChrX:153866712 [GRCh38] ChrX:153132167 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000721055]|Spastic paraplegia [RCV000532238] |
ChrX:153872214 [GRCh38] ChrX:153137669 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.3039C>G (p.Ala1013=) |
single nucleotide variant |
not specified [RCV000604325] |
ChrX:153864828 [GRCh38] ChrX:153130283 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 |
copy number gain |
See cases [RCV000512403] |
ChrX:152899437..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2137+1G>A |
single nucleotide variant |
Spastic paraplegia [RCV000633045] |
ChrX:153867355 [GRCh38] ChrX:153132810 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3046+1G>C |
single nucleotide variant |
Spastic paraplegia [RCV000633014] |
ChrX:153864820 [GRCh38] ChrX:153130275 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3071C>G (p.Ser1024Ter) |
single nucleotide variant |
not provided [RCV000578796] |
ChrX:153864680 [GRCh38] ChrX:153130135 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1379G>A (p.Trp460Ter) |
single nucleotide variant |
not provided [RCV000579131] |
ChrX:153868841 [GRCh38] ChrX:153134296 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153138672-153665655) |
copy number gain |
Microcytic anemia [RCV000626549] |
ChrX:153138672..153665655 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3592G>C (p.Asp1198His) |
single nucleotide variant |
not provided [RCV000659185] |
ChrX:153862845 [GRCh38] ChrX:153128300 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677999] |
ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3549C>T (p.Asn1183=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314382]|Spastic paraplegia [RCV002067021] |
ChrX:153862888 [GRCh38] ChrX:153128343 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 |
copy number loss |
not provided [RCV000684401] |
ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 |
copy number gain |
not provided [RCV000684402] |
ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 |
copy number loss |
not provided [RCV000684397] |
ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000681474] |
ChrX:153868435 [GRCh38] ChrX:153133890 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 |
copy number gain |
not provided [RCV000684736] |
ChrX:152398094..153176959 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 |
copy number gain |
not provided [RCV000684738] |
ChrX:152628304..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 |
copy number gain |
not provided [RCV000684739] |
ChrX:152941302..153438781 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 |
copy number gain |
not provided [RCV000684741] |
ChrX:153123907..153431401 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 |
copy number loss |
not provided [RCV000684386] |
ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_001278116.2(L1CAM):c.2014C>T (p.Gln672Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000685478] |
ChrX:153867479 [GRCh38] ChrX:153132934 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) |
single nucleotide variant |
Spastic paraplegia [RCV000704149] |
ChrX:153868674 [GRCh38] ChrX:153134129 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NC_000023.10:g.(?_153136492)_(153138172_?)del |
deletion |
Spastic paraplegia [RCV000708519] |
ChrX:153136492..153138172 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314594]|Spastic paraplegia [RCV000862520] |
ChrX:153866806 [GRCh38] ChrX:153132261 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NC_000023.10:g.(?_152954010)_(153599633_?)dup |
duplication |
Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] |
ChrX:152954010..153599633 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NM_001278116.2(L1CAM):c.1219C>T (p.Arg407Cys) |
single nucleotide variant |
Spastic paraplegia [RCV000688821] |
ChrX:153869568 [GRCh38] ChrX:153135023 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.2848G>A (p.Gly950Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000703388] |
ChrX:153865112 [GRCh38] ChrX:153130567 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153128823)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] |
ChrX:153128823..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2065G>A (p.Val689Ile) |
single nucleotide variant |
Spastic paraplegia [RCV000689607] |
ChrX:153867428 [GRCh38] ChrX:153132883 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.2300T>C (p.Ile767Thr) |
single nucleotide variant |
Spastic paraplegia [RCV000707011] |
ChrX:153866780 [GRCh38] ChrX:153132235 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.400+5G>A |
single nucleotide variant |
Spastic paraplegia [RCV000693176]|not provided [RCV001310754] |
ChrX:153872147 [GRCh38] ChrX:153137602 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) |
single nucleotide variant |
Spastic paraplegia [RCV002534505]|not provided [RCV000712206] |
ChrX:153864014 [GRCh38] ChrX:153129469 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NC_000023.10:g.(?_153128118)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] |
ChrX:153128118..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2195T>A (p.Val732Asp) |
single nucleotide variant |
Spastic paraplegia [RCV000703115] |
ChrX:153867067 [GRCh38] ChrX:153132522 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1546G>A (p.Asp516Asn) |
single nucleotide variant |
Spastic paraplegia [RCV000705270] |
ChrX:153868561 [GRCh38] ChrX:153134016 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) |
single nucleotide variant |
Aganglionic megacolon [RCV000736050]|Spastic paraplegia [RCV001509675] |
ChrX:153865465 [GRCh38] ChrX:153130920 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.2552C>T (p.Thr851Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002312442]|Spastic paraplegia [RCV002067012] |
ChrX:153865496 [GRCh38] ChrX:153130951 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.3711G>A (p.Ala1237=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318046] |
ChrX:153862726 [GRCh38] ChrX:153128181 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His) |
single nucleotide variant |
Inborn genetic diseases [RCV002313631]|Spastic paraplegia [RCV002534561] |
ChrX:153865714 [GRCh38] ChrX:153131169 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.3187C>T (p.Leu1063Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002315337] |
ChrX:153864457 [GRCh38] ChrX:153129912 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1148G>A (p.Arg383Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002318079] |
ChrX:153869639 [GRCh38] ChrX:153135094 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.2853C>T (p.Tyr951=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318089]|Spastic paraplegia [RCV002534924] |
ChrX:153865107 [GRCh38] ChrX:153130562 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318830]|MASA syndrome [RCV001730709]|Spastic paraplegia [RCV000865401]|X-linked complicated corpus callosum dysgenesis [RCV001730710]|X-linked hydrocephalus syndrome [RCV001730708]|not provided [RCV001709685] |
ChrX:153870835 [GRCh38] ChrX:153136290 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) |
single nucleotide variant |
Inborn genetic diseases [RCV002318090] |
ChrX:153869567 [GRCh38] ChrX:153135022 [GRCh37] ChrX:Xq28 |
benign|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 Xq25-28(chrX:122924044-155233731)x1 |
copy number loss |
not provided [RCV000849097] |
ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_001278116.2(L1CAM):c.1828+1G>A |
single nucleotide variant |
not provided [RCV001571389] |
ChrX:153867997 [GRCh38] ChrX:153133452 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 |
copy number loss |
not provided [RCV000753810] |
ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 |
copy number gain |
not provided [RCV000753922] |
ChrX:152806628..153626649 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 |
copy number loss |
not provided [RCV000753815] |
ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002359156]|MASA syndrome [RCV002495862]|Spastic paraplegia [RCV003120621]|not provided [RCV001532221] |
ChrX:153872167 [GRCh38] ChrX:153137622 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
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 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
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:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [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 |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] 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 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=) |
single nucleotide variant |
Spastic paraplegia [RCV001495245]|not provided [RCV003432826] |
ChrX:153869644 [GRCh38] ChrX:153135099 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3458-139G>A |
single nucleotide variant |
not provided [RCV001725715] |
ChrX:153863688 [GRCh38] ChrX:153129143 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847313]|Inborn genetic diseases [RCV002386493]|Spastic paraplegia [RCV002539576]|not provided [RCV001643341] |
ChrX:153868927 [GRCh38] ChrX:153134382 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.992-3C>T |
single nucleotide variant |
Spastic paraplegia [RCV001907817] |
ChrX:153869937 [GRCh38] ChrX:153135392 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 |
copy number loss |
Premature ovarian insufficiency [RCV000852349] |
ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.76+55C>T |
single nucleotide variant |
not provided [RCV001647694] |
ChrX:153875706 [GRCh38] ChrX:153141161 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.400+291C>G |
single nucleotide variant |
not provided [RCV001546763] |
ChrX:153871861 [GRCh38] ChrX:153137316 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1205C>G (p.Thr402Ser) |
single nucleotide variant |
not provided [RCV000762681] |
ChrX:153869582 [GRCh38] ChrX:153135037 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3427A>G (p.Ile1143Val) |
single nucleotide variant |
not provided [RCV003239056] |
ChrX:153863913 [GRCh38] ChrX:153129368 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) |
duplication |
X-linked hydrocephalus syndrome [RCV000990983] |
ChrX:153865810..153865811 [GRCh38] ChrX:153131265..153131266 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.77-132C>A |
single nucleotide variant |
not provided [RCV001565877] |
ChrX:153873374 [GRCh38] ChrX:153138829 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2872+1G>C |
single nucleotide variant |
Global developmental delay [RCV001559326] |
ChrX:153865087 [GRCh38] ChrX:153130542 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.266C>T (p.Ser89Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000864758] |
ChrX:153872286 [GRCh38] ChrX:153137741 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) |
single nucleotide variant |
Inborn genetic diseases [RCV002319992]|Spastic paraplegia [RCV001518063]|not provided [RCV003432815] |
ChrX:153864013 [GRCh38] ChrX:153129468 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.2091C>T (p.Pro697=) |
single nucleotide variant |
Spastic paraplegia [RCV002538984] |
ChrX:153867402 [GRCh38] ChrX:153132857 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1353C>T (p.Phe451=) |
single nucleotide variant |
not provided [RCV000869287] |
ChrX:153868867 [GRCh38] ChrX:153134322 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.92T>C (p.Val31Ala) |
single nucleotide variant |
not provided [RCV000870382] |
ChrX:153872697 [GRCh38] ChrX:153138152 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=) |
single nucleotide variant |
Spastic paraplegia [RCV001517099] |
ChrX:153862702 [GRCh38] ChrX:153128157 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.99G>C (p.Glu33Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002381944]|not provided [RCV000867312] |
ChrX:153872690 [GRCh38] ChrX:153138145 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3690T>C (p.Ser1230=) |
single nucleotide variant |
Spastic paraplegia [RCV001519834] |
ChrX:153862747 [GRCh38] ChrX:153128202 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1476C>T (p.Thr492=) |
single nucleotide variant |
Spastic paraplegia [RCV002064658] |
ChrX:153868631 [GRCh38] ChrX:153134086 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847058]|Inborn genetic diseases [RCV002427122]|Spastic paraplegia [RCV000865405] |
ChrX:153866848 [GRCh38] ChrX:153132303 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.2058C>T (p.Thr686=) |
single nucleotide variant |
not provided [RCV000946273] |
ChrX:153867435 [GRCh38] ChrX:153132890 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001428176]|not provided [RCV000867169] |
ChrX:153872185 [GRCh38] ChrX:153137640 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.1269G>A (p.Gln423=) |
single nucleotide variant |
Spastic paraplegia [RCV001513218] |
ChrX:153868951 [GRCh38] ChrX:153134406 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2452C>T (p.Leu818=) |
single nucleotide variant |
not provided [RCV000927910] |
ChrX:153865799 [GRCh38] ChrX:153131254 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003372930]|Spastic paraplegia [RCV000983859]|not provided [RCV003432986] |
ChrX:153870083 [GRCh38] ChrX:153135538 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1786G>C (p.Glu596Gln) |
single nucleotide variant |
Spastic paraplegia [RCV001050309] |
ChrX:153868040 [GRCh38] ChrX:153133495 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) |
copy number gain |
not provided [RCV000767679] |
ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.910G>T (p.Glu304Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001069390] |
ChrX:153870137 [GRCh38] ChrX:153135592 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.1411G>A (p.Asp471Asn) |
single nucleotide variant |
not provided [RCV000996046] |
ChrX:153868696 [GRCh38] ChrX:153134151 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys) |
single nucleotide variant |
not provided [RCV000996047] |
ChrX:153868720 [GRCh38] ChrX:153134175 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.-31C>G |
single nucleotide variant |
not provided [RCV001608777] |
ChrX:153875867 [GRCh38] ChrX:153141322 [GRCh37] ChrX:Xq28 |
benign |
NC_000023.10:g.(?_153128108)_(153609567_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] |
ChrX:153128108..153609567 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3019C>G (p.Arg1007Gly) |
single nucleotide variant |
not specified [RCV000781491] |
ChrX:153864848 [GRCh38] ChrX:153130303 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.749del (p.Ser250fs) |
deletion |
L1 syndrome [RCV000790408] |
ChrX:153870445 [GRCh38] ChrX:153135900 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3530+8G>A |
single nucleotide variant |
Spastic paraplegia [RCV000860538] |
ChrX:153863469 [GRCh38] ChrX:153128924 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1329T>G (p.Thr443=) |
single nucleotide variant |
not provided [RCV000869055] |
ChrX:153868891 [GRCh38] ChrX:153134346 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1335C>T (p.Tyr445=) |
single nucleotide variant |
not provided [RCV000876714] |
ChrX:153868885 [GRCh38] ChrX:153134340 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.523+10G>T |
single nucleotide variant |
Spastic paraplegia [RCV001408329] |
ChrX:153871047 [GRCh38] ChrX:153136502 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1161C>T (p.Gly387=) |
single nucleotide variant |
Spastic paraplegia [RCV001414841] |
ChrX:153869626 [GRCh38] ChrX:153135081 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=) |
single nucleotide variant |
Spastic paraplegia [RCV001520759]|not provided [RCV003432803] |
ChrX:153875804 [GRCh38] ChrX:153141259 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.1722G>A (p.Gly574=) |
single nucleotide variant |
Spastic paraplegia [RCV001445649] |
ChrX:153868104 [GRCh38] ChrX:153133559 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1851G>A (p.Arg617=) |
single nucleotide variant |
Spastic paraplegia [RCV002064453] |
ChrX:153867888 [GRCh38] ChrX:153133343 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1379+7G>A |
single nucleotide variant |
not provided [RCV000840969] |
ChrX:153868834 [GRCh38] ChrX:153134289 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152954020)_(154096327_?)del |
deletion |
Adrenoleukodystrophy [RCV000815921] |
ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.487A>G (p.Ser163Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000803125] |
ChrX:153871093 [GRCh38] ChrX:153136548 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153137587)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] |
ChrX:153137587..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128098)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] |
ChrX:153128098..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000802301]|not provided [RCV001553213] |
ChrX:153863511 [GRCh38] ChrX:153128966 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe) |
single nucleotide variant |
Spastic paraplegia [RCV000804825]|not provided [RCV003442087] |
ChrX:153868327 [GRCh38] ChrX:153133782 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.401-12T>C |
single nucleotide variant |
not provided [RCV000842616] |
ChrX:153871191 [GRCh38] ChrX:153136646 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV000990984] |
ChrX:153875834 [GRCh38] ChrX:153141289 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.1823del (p.Val608fs) |
deletion |
Spastic paraplegia [RCV000813993] |
ChrX:153868003 [GRCh38] ChrX:153133458 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) |
single nucleotide variant |
not provided [RCV000827963] |
ChrX:153864670 [GRCh38] ChrX:153130125 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.1481G>A (p.Arg494His) |
single nucleotide variant |
Spastic paraplegia [RCV000793609] |
ChrX:153868626 [GRCh38] ChrX:153134081 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.1702_1703+14del |
deletion |
Spastic paraplegia [RCV000817263] |
ChrX:153868288..153868303 [GRCh38] ChrX:153133743..153133758 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV000794906] |
ChrX:153871107 [GRCh38] ChrX:153136562 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.726G>A (p.Leu242=) |
single nucleotide variant |
Spastic paraplegia [RCV000862395] |
ChrX:153870468 [GRCh38] ChrX:153135923 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152990712)_(153650075_?)del |
deletion |
X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.452G>C (p.Gly151Ala) |
single nucleotide variant |
Spastic paraplegia [RCV000802209] |
ChrX:153871128 [GRCh38] ChrX:153136583 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) |
single nucleotide variant |
Spastic paraplegia [RCV001088727]|not provided [RCV000861212] |
ChrX:153864694 [GRCh38] ChrX:153130149 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.870C>T (p.Tyr290=) |
single nucleotide variant |
not provided [RCV000875150] |
ChrX:153870177 [GRCh38] ChrX:153135632 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=) |
single nucleotide variant |
Spastic paraplegia [RCV001510594]|not provided [RCV003432795] |
ChrX:153869876 [GRCh38] ChrX:153135331 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.2869C>A (p.Pro957Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001061777] |
ChrX:153865091 [GRCh38] ChrX:153130546 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003214133] |
ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.-109+1811dup |
duplication |
X-linked hydrocephalus syndrome [RCV000990985] |
ChrX:153884253..153884254 [GRCh38] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG |
insertion |
X-linked hydrocephalus syndrome [RCV000990988] |
ChrX:153885969..153885970 [GRCh38] ChrX:153151423..153151424 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 |
copy number gain |
not provided [RCV000846316] |
ChrX:153105400..153438105 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1894C>T (p.Arg632Cys) |
single nucleotide variant |
Spastic paraplegia [RCV000869671] |
ChrX:153867845 [GRCh38] ChrX:153133300 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) |
single nucleotide variant |
MASA syndrome [RCV000850499]|not provided [RCV002225750] |
ChrX:153870880 [GRCh38] ChrX:153136335 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
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_001278116.2(L1CAM):c.2593_2594del (p.His865fs) |
deletion |
not provided [RCV001008335] |
ChrX:153865454..153865455 [GRCh38] ChrX:153130909..153130910 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3448_3452delinsGGG (p.Lys1150fs) |
indel |
Spastic paraplegia [RCV001239298] |
ChrX:153863888..153863892 [GRCh38] ChrX:153129343..153129347 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.3341C>T (p.Pro1114Leu) |
single nucleotide variant |
not provided [RCV003313710] |
ChrX:153863999 [GRCh38] ChrX:153129454 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG |
insertion |
X-linked hydrocephalus syndrome [RCV000990986] |
ChrX:153885826..153885827 [GRCh38] ChrX:153151280..153151281 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.-109+234del |
deletion |
X-linked hydrocephalus syndrome [RCV000990987] |
ChrX:153885831 [GRCh38] ChrX:153151285 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=) |
single nucleotide variant |
not provided [RCV000996049] |
ChrX:153870818 [GRCh38] ChrX:153136273 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) |
single nucleotide variant |
not provided [RCV000996051] |
ChrX:153870881 [GRCh38] ChrX:153136336 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152014869)_(154563736_?)del |
deletion |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] |
ChrX:152014869..154563736 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_001278116.2(L1CAM):c.641C>T (p.Pro214Leu) |
single nucleotide variant |
not provided [RCV003234285] |
ChrX:153870843 [GRCh38] ChrX:153136298 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.76+194C>A |
single nucleotide variant |
not provided [RCV001549564] |
ChrX:153875567 [GRCh38] ChrX:153141022 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.76+225G>A |
single nucleotide variant |
not provided [RCV001550630] |
ChrX:153875536 [GRCh38] ChrX:153140991 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys) |
single nucleotide variant |
not provided [RCV001578231] |
ChrX:153872350 [GRCh38] ChrX:153137805 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153128118)_(153664237_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107402] |
ChrX:153128118..153664237 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1103T>A (p.Ile368Asn) |
single nucleotide variant |
not provided [RCV001560492] |
ChrX:153869823 [GRCh38] ChrX:153135278 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3457+116G>T |
single nucleotide variant |
not provided [RCV001655212] |
ChrX:153863767 [GRCh38] ChrX:153129222 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.*159T>C |
single nucleotide variant |
not provided [RCV001658720] |
ChrX:153862504 [GRCh38] ChrX:153127959 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.401-90T>G |
single nucleotide variant |
not provided [RCV001638382] |
ChrX:153871269 [GRCh38] ChrX:153136724 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) |
single nucleotide variant |
not provided [RCV001723326] |
ChrX:153870062 [GRCh38] ChrX:153135517 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.400+285G>A |
single nucleotide variant |
not provided [RCV001620086] |
ChrX:153871867 [GRCh38] ChrX:153137322 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3457+53C>T |
single nucleotide variant |
not provided [RCV001614173] |
ChrX:153863830 [GRCh38] ChrX:153129285 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.631G>A (p.Ala211Thr) |
single nucleotide variant |
not provided [RCV001558206] |
ChrX:153870853 [GRCh38] ChrX:153136308 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.197+43A>G |
single nucleotide variant |
not provided [RCV001677703] |
ChrX:153872549 [GRCh38] ChrX:153138004 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3434G>A (p.Arg1145His) |
single nucleotide variant |
Inborn genetic diseases [RCV002458543]|not provided [RCV001575713] |
ChrX:153863906 [GRCh38] ChrX:153129361 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) |
single nucleotide variant |
Spastic paraplegia [RCV002568383]|not provided [RCV001558898] |
ChrX:153870468 [GRCh38] ChrX:153135923 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.2431+322dup |
duplication |
not provided [RCV001686214] |
ChrX:153866312..153866313 [GRCh38] ChrX:153131767..153131768 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1389G>A (p.Glu463=) |
single nucleotide variant |
Spastic paraplegia [RCV001421125] |
ChrX:153868718 [GRCh38] ChrX:153134173 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1158T>C (p.Arg386=) |
single nucleotide variant |
Spastic paraplegia [RCV001439568] |
ChrX:153869629 [GRCh38] ChrX:153135084 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1444C>T (p.Leu482=) |
single nucleotide variant |
Spastic paraplegia [RCV002539986] |
ChrX:153868663 [GRCh38] ChrX:153134118 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3489T>C (p.Ser1163=) |
single nucleotide variant |
not provided [RCV000928753] |
ChrX:153863518 [GRCh38] ChrX:153128973 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1703+10G>C |
single nucleotide variant |
Spastic paraplegia [RCV002064506] |
ChrX:153868292 [GRCh38] ChrX:153133747 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1386C>T (p.Asp462=) |
single nucleotide variant |
Spastic paraplegia [RCV000865751] |
ChrX:153868721 [GRCh38] ChrX:153134176 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002379917]|Spastic paraplegia [RCV001240369] |
ChrX:153872659 [GRCh38] ChrX:153138114 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001238051] |
ChrX:153869563 [GRCh38] ChrX:153135018 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1143G>C (p.Lys381Asn) |
single nucleotide variant |
Spastic paraplegia [RCV001241860] |
ChrX:153869644 [GRCh38] ChrX:153135099 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys) |
single nucleotide variant |
not provided [RCV001532220] |
ChrX:153867515 [GRCh38] ChrX:153132970 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2431+300_2431+311del |
microsatellite |
not provided [RCV001557754] |
ChrX:153866338..153866349 [GRCh38] ChrX:153131793..153131804 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.76+232G>T |
single nucleotide variant |
not provided [RCV001577906] |
ChrX:153875529 [GRCh38] ChrX:153140984 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1900T>C (p.Ser634Pro) |
single nucleotide variant |
not provided [RCV001557952] |
ChrX:153867839 [GRCh38] ChrX:153133294 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1418G>A (p.Arg473His) |
single nucleotide variant |
not provided [RCV001552314] |
ChrX:153868689 [GRCh38] ChrX:153134144 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.400+156T>C |
single nucleotide variant |
not provided [RCV001553533] |
ChrX:153871996 [GRCh38] ChrX:153137451 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) |
single nucleotide variant |
not provided [RCV001571629] |
ChrX:153870104 [GRCh38] ChrX:153135559 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2209C>G (p.Pro737Ala) |
single nucleotide variant |
not provided [RCV003235878] |
ChrX:153866871 [GRCh38] ChrX:153132326 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile) |
single nucleotide variant |
not specified [RCV002469976] |
ChrX:153867415 [GRCh38] ChrX:153132870 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.48del (p.Cys17fs) |
deletion |
not provided [RCV001008072] |
ChrX:153875789 [GRCh38] ChrX:153141244 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.807-61G>C |
single nucleotide variant |
not provided [RCV001687582] |
ChrX:153870301 [GRCh38] ChrX:153135756 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3543-11T>C |
single nucleotide variant |
not provided [RCV001657494] |
ChrX:153862905 [GRCh38] ChrX:153128360 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2431+147C>A |
single nucleotide variant |
not provided [RCV001713736] |
ChrX:153866502 [GRCh38] ChrX:153131957 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1268-114= |
single nucleotide variant |
not provided [RCV001616465] |
ChrX:153869066 [GRCh38] ChrX:153134521 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2431+336del |
deletion |
not provided [RCV001685603] |
ChrX:153866313 [GRCh38] ChrX:153131768 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1267+101G>A |
single nucleotide variant |
not provided [RCV001653291] |
ChrX:153869419 [GRCh38] ChrX:153134874 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1939+98C>T |
single nucleotide variant |
not provided [RCV001652620] |
ChrX:153867702 [GRCh38] ChrX:153133157 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.992-59G>A |
single nucleotide variant |
not provided [RCV001617321] |
ChrX:153869993 [GRCh38] ChrX:153135448 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2431+329T>C |
single nucleotide variant |
not provided [RCV001587835] |
ChrX:153866320 [GRCh38] ChrX:153131775 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3543-22C>A |
single nucleotide variant |
not provided [RCV001638202] |
ChrX:153862916 [GRCh38] ChrX:153128371 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3323-84C>T |
single nucleotide variant |
not provided [RCV001713223] |
ChrX:153864101 [GRCh38] ChrX:153129556 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 |
copy number gain |
not provided [RCV001007368] |
ChrX:153029046..153567369 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 |
copy number gain |
not provided [RCV001007367] |
ChrX:153023149..153345755 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2763C>T (p.Pro921=) |
single nucleotide variant |
Spastic paraplegia [RCV002538581]|not provided [RCV001666523] |
ChrX:153865197 [GRCh38] ChrX:153130652 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1704-18_1704-15del |
microsatellite |
Spastic paraplegia [RCV002073166]|not provided [RCV001667771] |
ChrX:153868137..153868140 [GRCh38] ChrX:153133592..153133595 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.523+45G>A |
single nucleotide variant |
not provided [RCV001616541] |
ChrX:153871012 [GRCh38] ChrX:153136467 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV001266763]|L1 syndrome [RCV002239304]|Spastic paraplegia [RCV001040041]|X-linked complicated corpus callosum dysgenesis [RCV001809962]|not provided [RCV001545171] |
ChrX:153870122 [GRCh38] ChrX:153135577 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.1268-1G>A |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV001027729] |
ChrX:153868953 [GRCh38] ChrX:153134408 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3166+1G>T |
single nucleotide variant |
Spastic paraplegia [RCV001206057] |
ChrX:153864584 [GRCh38] ChrX:153130039 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NC_000023.10:g.(?_152990712)_(153650075_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152954010)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] |
ChrX:152954010..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del) |
microsatellite |
Spastic paraplegia [RCV001213725]|not provided [RCV001751393] |
ChrX:153875798..153875800 [GRCh38] ChrX:153141253..153141255 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3181G>T (p.Ala1061Ser) |
single nucleotide variant |
Spastic paraplegia [RCV001219669] |
ChrX:153864463 [GRCh38] ChrX:153129918 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152954010)_(153141311_?)dup |
duplication |
Creatine transporter deficiency [RCV001033780] |
ChrX:152954010..153141311 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 |
copy number gain |
not provided [RCV001007365] |
ChrX:152516781..153368573 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2559G>A (p.Trp853Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001210967] |
ChrX:153865489 [GRCh38] ChrX:153130944 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.401-1G>A |
single nucleotide variant |
Spastic paraplegia [RCV001228655] |
ChrX:153871180 [GRCh38] ChrX:153136635 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3241C>T (p.Gln1081Ter) |
single nucleotide variant |
L1 syndrome [RCV001251323] |
ChrX:153864403 [GRCh38] ChrX:153129858 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV001254092] |
ChrX:153870451 [GRCh38] ChrX:153135906 [GRCh37] ChrX:Xq28 |
likely pathogenic|likely benign |
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro) |
single nucleotide variant |
Intellectual disability [RCV001257682] |
ChrX:153864418 [GRCh38] ChrX:153129873 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3016G>A (p.Val1006Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV001267448]|Spastic paraplegia [RCV002542850] |
ChrX:153864851 [GRCh38] ChrX:153130306 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) |
deletion |
X-linked hydrocephalus syndrome [RCV001261519] |
ChrX:153872649..153872650 [GRCh38] ChrX:153138104..153138105 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.77-248G>A |
single nucleotide variant |
not provided [RCV001581289] |
ChrX:153873490 [GRCh38] ChrX:153138945 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
NM_001278116.2(L1CAM):c.32_33del (p.Leu11fs) |
microsatellite |
MASA syndrome [RCV001262132] |
ChrX:153875804..153875805 [GRCh38] ChrX:153141259..153141260 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp) |
single nucleotide variant |
MASA syndrome [RCV001260986] |
ChrX:153869565 [GRCh38] ChrX:153135020 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3754C>T (p.Pro1252Ser) |
single nucleotide variant |
X-linked complicated corpus callosum dysgenesis [RCV001332430] |
ChrX:153862683 [GRCh38] ChrX:153128138 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr) |
single nucleotide variant |
MASA syndrome [RCV001332432] |
ChrX:153865449 [GRCh38] ChrX:153130904 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002568231]|not provided [RCV001536295] |
ChrX:153864656 [GRCh38] ChrX:153130111 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 |
copy number gain |
not provided [RCV001260058] |
ChrX:153113943..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 |
copy number gain |
not provided [RCV001260059] |
ChrX:153135257..153594096 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 |
copy number gain |
not provided [RCV001260062] |
ChrX:152631130..153240286 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3774G>T (p.Ter1258Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV001265999] |
ChrX:153862663 [GRCh38] ChrX:153128118 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.524-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV001266175] |
ChrX:153870962 [GRCh38] ChrX:153136417 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3458-5T>G |
single nucleotide variant |
Intellectual disability [RCV001257681] |
ChrX:153863554 [GRCh38] ChrX:153129009 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153136492)_(153138172_?)del |
deletion |
Spastic paraplegia [RCV001327817] |
ChrX:153136492..153138172 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met) |
single nucleotide variant |
not provided [RCV001310753] |
ChrX:153869607 [GRCh38] ChrX:153135062 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.807-7C>T |
single nucleotide variant |
Spastic paraplegia [RCV001422360] |
ChrX:153870247 [GRCh38] ChrX:153135702 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002350670]|Spastic paraplegia [RCV002070235]|not provided [RCV001357794] |
ChrX:153862727 [GRCh38] ChrX:153128182 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NC_000023.11:g.153859456A>G |
single nucleotide variant |
not provided [RCV001354276] |
ChrX:153859456 [GRCh38] ChrX:153124911 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV001375670] |
ChrX:153858452..154332213 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.176C>T (p.Ala59Val) |
single nucleotide variant |
Spastic paraplegia [RCV001372486] |
ChrX:153872613 [GRCh38] ChrX:153138068 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152228560-153146794)x2 |
copy number gain |
Autism [RCV002284318] |
ChrX:152228560..153146794 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly) |
single nucleotide variant |
MASA syndrome [RCV001290966] |
ChrX:153870835 [GRCh38] ChrX:153136290 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg) |
single nucleotide variant |
MASA syndrome [RCV001270392]|Spastic paraplegia [RCV002541647] |
ChrX:153862848 [GRCh38] ChrX:153128303 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001391666] |
ChrX:153128098..153498669 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu) |
single nucleotide variant |
not provided [RCV001310752] |
ChrX:153863507 [GRCh38] ChrX:153128962 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001278116.2(L1CAM):c.2258_2263dup (p.Gln753_Trp754dup) |
duplication |
Spastic paraplegia [RCV001306307] |
ChrX:153866816..153866817 [GRCh38] ChrX:153132271..153132272 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_001278116.2(L1CAM):c.882C>T (p.Asn294=) |
single nucleotide variant |
Spastic paraplegia [RCV001404569] |
ChrX:153870165 [GRCh38] ChrX:153135620 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2274G>C (p.Gly758=) |
single nucleotide variant |
Spastic paraplegia [RCV001470231] |
ChrX:153866806 [GRCh38] ChrX:153132261 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1704-5C>T |
single nucleotide variant |
Spastic paraplegia [RCV001451941] |
ChrX:153868127 [GRCh38] ChrX:153133582 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001523623]|not provided [RCV002070291] |
ChrX:153867388 [GRCh38] ChrX:153132843 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=) |
single nucleotide variant |
Spastic paraplegia [RCV001517298]|not provided [RCV003434305] |
ChrX:153870396 [GRCh38] ChrX:153135851 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3531-12G>A |
single nucleotide variant |
Spastic paraplegia [RCV002570843]|not provided [RCV001581822] |
ChrX:153863391 [GRCh38] ChrX:153128846 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.990G>A (p.Glu330=) |
single nucleotide variant |
Spastic paraplegia [RCV001412119] |
ChrX:153870057 [GRCh38] ChrX:153135512 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2822C>T (p.Pro941Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001388276] |
ChrX:153865138 [GRCh38] ChrX:153130593 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001388277]|not provided [RCV003322891] |
ChrX:153865347 [GRCh38] ChrX:153130802 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.558G>C (p.Thr186=) |
single nucleotide variant |
Spastic paraplegia [RCV001431012] |
ChrX:153870926 [GRCh38] ChrX:153136381 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2654T>A (p.Leu885Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001385394] |
ChrX:153865394 [GRCh38] ChrX:153130849 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153129318)_(153131294_?)del |
deletion |
Spastic paraplegia [RCV001389112] |
ChrX:153129318..153131294 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3774G>A (p.Ter1258=) |
single nucleotide variant |
Spastic paraplegia [RCV001436934] |
ChrX:153862663 [GRCh38] ChrX:153128118 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1413C>T (p.Asp471=) |
single nucleotide variant |
Spastic paraplegia [RCV001419739] |
ChrX:153868694 [GRCh38] ChrX:153134149 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3178G>A (p.Gly1060Arg) |
single nucleotide variant |
Spastic paraplegia [RCV001509674] |
ChrX:153864466 [GRCh38] ChrX:153129921 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3323-8A>C |
single nucleotide variant |
Spastic paraplegia [RCV001451073] |
ChrX:153864025 [GRCh38] ChrX:153129480 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2553G>A (p.Thr851=) |
single nucleotide variant |
Spastic paraplegia [RCV001515696] |
ChrX:153865495 [GRCh38] ChrX:153130950 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.*203G>C |
single nucleotide variant |
not provided [RCV001588446] |
ChrX:153862460 [GRCh38] ChrX:153127915 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1547-14C>T |
single nucleotide variant |
Spastic paraplegia [RCV002539719]|not provided [RCV001709997] |
ChrX:153868472 [GRCh38] ChrX:153133927 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.694+55G>A |
single nucleotide variant |
not provided [RCV001684400] |
ChrX:153870735 [GRCh38] ChrX:153136190 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.92-180C>T |
single nucleotide variant |
not provided [RCV001615724] |
ChrX:153872877 [GRCh38] ChrX:153138332 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2432-86G>A |
single nucleotide variant |
not provided [RCV001698729] |
ChrX:153865905 [GRCh38] ChrX:153131360 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2310C>T (p.Asp770=) |
single nucleotide variant |
not provided [RCV001694559] |
ChrX:153866770 [GRCh38] ChrX:153132225 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) |
indel |
not specified [RCV001582400] |
ChrX:153870419..153870476 [GRCh38] ChrX:153135874..153135931 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2500C>T (p.Arg834Trp) |
single nucleotide variant |
Spastic paraplegia [RCV001523196] |
ChrX:153865751 [GRCh38] ChrX:153131206 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.401-89A>G |
single nucleotide variant |
not provided [RCV001687391] |
ChrX:153871268 [GRCh38] ChrX:153136723 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1863C>T (p.Ser621=) |
single nucleotide variant |
Inborn genetic diseases [RCV002414106]|Spastic paraplegia [RCV001461181] |
ChrX:153867876 [GRCh38] ChrX:153133331 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh38/hg38 Xq28(chrX:153905292-154361918) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000012611] |
ChrX:153905292..154361918 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3628G>A (p.Asp1210Asn) |
single nucleotide variant |
Spastic paraplegia [RCV001519680] |
ChrX:153862809 [GRCh38] ChrX:153128264 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.950C>T (p.Ser317Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001523467] |
ChrX:153870097 [GRCh38] ChrX:153135552 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.267G>T (p.Ser89=) |
single nucleotide variant |
Spastic paraplegia [RCV001443624] |
ChrX:153872285 [GRCh38] ChrX:153137740 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1972G>A (p.Ala658Thr) |
single nucleotide variant |
not provided [RCV001725836] |
ChrX:153867521 [GRCh38] ChrX:153132976 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1546+6G>A |
single nucleotide variant |
not provided [RCV001725837] |
ChrX:153868555 [GRCh38] ChrX:153134010 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152014869)_(155171615_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] |
ChrX:152014869..155171615 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(153363122_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] |
ChrX:152014869..153363122 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NM_001278116.2(L1CAM):c.2260T>A (p.Trp754Arg) |
single nucleotide variant |
not provided [RCV001756554] |
ChrX:153866820 [GRCh38] ChrX:153132275 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1429del (p.Tyr477fs) |
deletion |
not provided [RCV001782361] |
ChrX:153868678 [GRCh38] ChrX:153134133 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) |
duplication |
X-linked hydrocephalus syndrome [RCV002272933] |
ChrX:153870901..153870902 [GRCh38] ChrX:153136356..153136357 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152372767-155233731) |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] |
ChrX:152372767..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3322+11G>A |
single nucleotide variant |
See cases [RCV002252515]|not specified [RCV002307851] |
ChrX:153864311 [GRCh38] ChrX:153129766 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1475C>T (p.Thr492Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002540423]|not provided [RCV001758791] |
ChrX:153868632 [GRCh38] ChrX:153134087 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3587A>G (p.Asn1196Ser) |
single nucleotide variant |
not provided [RCV001751811] |
ChrX:153862850 [GRCh38] ChrX:153128305 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr) |
single nucleotide variant |
not provided [RCV001751952] |
ChrX:153865202 [GRCh38] ChrX:153130657 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002540368]|not provided [RCV001765350] |
ChrX:153867898 [GRCh38] ChrX:153133353 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.1633C>T (p.Pro545Ser) |
single nucleotide variant |
not provided [RCV001767682] |
ChrX:153868372 [GRCh38] ChrX:153133827 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002544019]|not provided [RCV001772460] |
ChrX:153867845 [GRCh38] ChrX:153133300 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3140T>C (p.Phe1047Ser) |
single nucleotide variant |
not provided [RCV001754464] |
ChrX:153864611 [GRCh38] ChrX:153130066 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.769G>A (p.Gly257Arg) |
single nucleotide variant |
not provided [RCV001772784] |
ChrX:153870425 [GRCh38] ChrX:153135880 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) |
single nucleotide variant |
MASA syndrome [RCV002488524]|not provided [RCV001764761] |
ChrX:153864633 [GRCh38] ChrX:153130088 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2234C>T (p.Ala745Val) |
single nucleotide variant |
not provided [RCV001752080] |
ChrX:153866846 [GRCh38] ChrX:153132301 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3476C>T (p.Thr1159Ile) |
single nucleotide variant |
not provided [RCV001768589] |
ChrX:153863531 [GRCh38] ChrX:153128986 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2539G>A (p.Gly847Arg) |
single nucleotide variant |
not provided [RCV001768611] |
ChrX:153865712 [GRCh38] ChrX:153131167 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) |
indel |
MASA syndrome [RCV002506781]|not provided [RCV001767779] |
ChrX:153865734..153865735 [GRCh38] ChrX:153131189..153131190 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.457T>A (p.Ser153Thr) |
single nucleotide variant |
not provided [RCV001767818] |
ChrX:153871123 [GRCh38] ChrX:153136578 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1292C>A (p.Ala431Glu) |
single nucleotide variant |
not provided [RCV001765632] |
ChrX:153868928 [GRCh38] ChrX:153134383 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2416T>C (p.Tyr806His) |
single nucleotide variant |
not provided [RCV001768722] |
ChrX:153866664 [GRCh38] ChrX:153132119 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys) |
single nucleotide variant |
not provided [RCV001774381] |
ChrX:153867083 [GRCh38] ChrX:153132538 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2978T>C (p.Leu993Pro) |
single nucleotide variant |
not provided [RCV001758026] |
ChrX:153864889 [GRCh38] ChrX:153130344 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2249A>G (p.Tyr750Cys) |
single nucleotide variant |
not provided [RCV001774455] |
ChrX:153866831 [GRCh38] ChrX:153132286 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1120G>T (p.Glu374Ter) |
single nucleotide variant |
not provided [RCV001782360] |
ChrX:153869806 [GRCh38] ChrX:153135261 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.76+4A>T |
single nucleotide variant |
not provided [RCV001754335] |
ChrX:153875757 [GRCh38] ChrX:153141212 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3449A>G (p.Lys1150Arg) |
single nucleotide variant |
not provided [RCV001761303] |
ChrX:153863891 [GRCh38] ChrX:153129346 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_001278116.2(L1CAM):c.1786G>A (p.Glu596Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001963810] |
ChrX:153868040 [GRCh38] ChrX:153133495 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) |
single nucleotide variant |
Spastic paraplegia [RCV002542010]|not specified [RCV001819158] |
ChrX:153872297 [GRCh38] ChrX:153137752 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter) |
single nucleotide variant |
X-linked complicated corpus callosum dysgenesis [RCV001824277] |
ChrX:153864947 [GRCh38] ChrX:153130402 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.616del (p.Asp206fs) |
deletion |
Spastic paraplegia [RCV001864298] |
ChrX:153870868 [GRCh38] ChrX:153136323 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001839062] |
ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28 |
pathogenic |
NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe) |
single nucleotide variant |
Spastic paraplegia [RCV001914751] |
ChrX:153870403 [GRCh38] ChrX:153135858 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2413G>C (p.Gly805Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848533] |
ChrX:153866667 [GRCh38] ChrX:153132122 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002425340]|Spastic paraplegia [RCV001970432] |
ChrX:153865486 [GRCh38] ChrX:153130941 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848536]|not provided [RCV003434331] |
ChrX:153864867 [GRCh38] ChrX:153130322 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs) |
duplication |
Spastic paraplegia [RCV001967213] |
ChrX:153870835..153870836 [GRCh38] ChrX:153136290..153136291 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 |
copy number gain |
not provided [RCV001829153] |
ChrX:152740984..153431748 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152970475-153524157) |
copy number gain |
not specified [RCV002053204] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153105394-153421839) |
copy number gain |
not specified [RCV002053207] |
ChrX:153105394..153421839 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3591G>A (p.Gly1197=) |
single nucleotide variant |
Spastic paraplegia [RCV001966125] |
ChrX:153862846 [GRCh38] ChrX:153128301 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met) |
single nucleotide variant |
Spastic paraplegia [RCV002006734] |
ChrX:153875771 [GRCh38] ChrX:153141226 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 |
copy number gain |
not provided [RCV001834439] |
ChrX:153093501..153792322 [GRCh37] ChrX:Xq28 |
pathogenic |
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_001278116.2(L1CAM):c.292A>G (p.Thr98Ala) |
single nucleotide variant |
not specified [RCV001844497] |
ChrX:153872260 [GRCh38] ChrX:153137715 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153135263-153594168) |
copy number gain |
not specified [RCV002053209] |
ChrX:153135263..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.*383C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848528] |
ChrX:153862280 [GRCh38] ChrX:153127735 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848529] |
ChrX:153869640 [GRCh38] ChrX:153135095 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.198-8G>A |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848530] |
ChrX:153872362 [GRCh38] ChrX:153137817 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.198-9C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848531]|Spastic paraplegia [RCV002545275] |
ChrX:153872363 [GRCh38] ChrX:153137818 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848534] |
ChrX:153864879 [GRCh38] ChrX:153130334 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848537] |
ChrX:153864475 [GRCh38] ChrX:153129930 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.644G>A (p.Gly215Asp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848539] |
ChrX:153870840 [GRCh38] ChrX:153136295 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3046+1G>A |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV001848629] |
ChrX:153864820 [GRCh38] ChrX:153130275 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1225C>T (p.Arg409Trp) |
single nucleotide variant |
Spastic paraplegia [RCV002044090] |
ChrX:153869562 [GRCh38] ChrX:153135017 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) |
single nucleotide variant |
MASA syndrome [RCV001843717] |
ChrX:153864410 [GRCh38] ChrX:153129865 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_152986307)_(153593345_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001967054] |
ChrX:152986307..153593345 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.401-7C>G |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848538] |
ChrX:153871186 [GRCh38] ChrX:153136641 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2584A>G (p.Ser862Gly) |
single nucleotide variant |
Spastic paraplegia [RCV001892099] |
ChrX:153865464 [GRCh38] ChrX:153130919 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2209-9C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848532]|Spastic paraplegia [RCV002543409] |
ChrX:153866880 [GRCh38] ChrX:153132335 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq28(chrX:153113943-153624020) |
copy number gain |
not specified [RCV002053208] |
ChrX:153113943..153624020 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1940-1G>A |
single nucleotide variant |
Spastic paraplegia [RCV002017926] |
ChrX:153867554 [GRCh38] ChrX:153133009 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.1913C>A (p.Ala638Glu) |
single nucleotide variant |
Spastic paraplegia [RCV001942458] |
ChrX:153867826 [GRCh38] ChrX:153133281 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2813G>A (p.Trp938Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001904362] |
ChrX:153865147 [GRCh38] ChrX:153130602 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2999G>A (p.Gly1000Asp) |
single nucleotide variant |
Spastic paraplegia [RCV001886863] |
ChrX:153864868 [GRCh38] ChrX:153130323 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3257A>C (p.Tyr1086Ser) |
single nucleotide variant |
Spastic paraplegia [RCV001977914] |
ChrX:153864387 [GRCh38] ChrX:153129842 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1040G>A (p.Gly347Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002028541] |
ChrX:153869886 [GRCh38] ChrX:153135341 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3734G>A (p.Gly1245Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002045976] |
ChrX:153862703 [GRCh38] ChrX:153128158 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152482081)_(153416424_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV001953905] |
ChrX:152482081..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2459G>A (p.Gly820Asp) |
single nucleotide variant |
Spastic paraplegia [RCV001932118] |
ChrX:153865792 [GRCh38] ChrX:153131247 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.2541A>G (p.Gly847=) |
single nucleotide variant |
Spastic paraplegia [RCV002046746] |
ChrX:153865710 [GRCh38] ChrX:153131165 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001937109] |
ChrX:153870238 [GRCh38] ChrX:153135693 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2674C>G (p.His892Asp) |
single nucleotide variant |
Spastic paraplegia [RCV001907469] |
ChrX:153865374 [GRCh38] ChrX:153130829 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2243T>C (p.Val748Ala) |
single nucleotide variant |
Spastic paraplegia [RCV001923741] |
ChrX:153866837 [GRCh38] ChrX:153132292 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.992-20G>A |
single nucleotide variant |
Spastic paraplegia [RCV001906366] |
ChrX:153869954 [GRCh38] ChrX:153135409 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.774G>C (p.Gln258His) |
single nucleotide variant |
Spastic paraplegia [RCV001940501] |
ChrX:153870420 [GRCh38] ChrX:153135875 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys) |
single nucleotide variant |
not provided [RCV002034808] |
ChrX:153865326 [GRCh38] ChrX:153130781 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.203G>T (p.Arg68Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001905603] |
ChrX:153872349 [GRCh38] ChrX:153137804 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1703+1G>A |
single nucleotide variant |
Spastic paraplegia [RCV002036511] |
ChrX:153868301 [GRCh38] ChrX:153133756 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.1781G>A (p.Ser594Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002088953] |
ChrX:153868045 [GRCh38] ChrX:153133500 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1704-4G>A |
single nucleotide variant |
Spastic paraplegia [RCV002146988] |
ChrX:153868126 [GRCh38] ChrX:153133581 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3531-13C>T |
single nucleotide variant |
Spastic paraplegia [RCV002112441] |
ChrX:153863392 [GRCh38] ChrX:153128847 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.570C>T (p.Asn190=) |
single nucleotide variant |
Inborn genetic diseases [RCV002346447]|Spastic paraplegia [RCV002125001] |
ChrX:153870914 [GRCh38] ChrX:153136369 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.510C>T (p.Tyr170=) |
single nucleotide variant |
Spastic paraplegia [RCV002191041] |
ChrX:153871070 [GRCh38] ChrX:153136525 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2565G>T (p.Glu855Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002127129] |
ChrX:153865483 [GRCh38] ChrX:153130938 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1124-10G>C |
single nucleotide variant |
Spastic paraplegia [RCV002208989] |
ChrX:153869673 [GRCh38] ChrX:153135128 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.942C>T (p.Ala314=) |
single nucleotide variant |
Spastic paraplegia [RCV002110576] |
ChrX:153870105 [GRCh38] ChrX:153135560 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.806+14C>A |
single nucleotide variant |
Spastic paraplegia [RCV002111098] |
ChrX:153870374 [GRCh38] ChrX:153135829 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3542+13C>T |
single nucleotide variant |
Spastic paraplegia [RCV002185273] |
ChrX:153863355 [GRCh38] ChrX:153128810 [GRCh37] ChrX:Xq28 |
benign |
Single allele |
deletion |
Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] |
ChrX:153427468..156004919 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3046+20T>A |
single nucleotide variant |
Spastic paraplegia [RCV002111862] |
ChrX:153864801 [GRCh38] ChrX:153130256 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.651G>A (p.Arg217=) |
single nucleotide variant |
Spastic paraplegia [RCV002089884] |
ChrX:153870833 [GRCh38] ChrX:153136288 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1547-18C>T |
single nucleotide variant |
Spastic paraplegia [RCV002190242]|not provided [RCV002264454] |
ChrX:153868476 [GRCh38] ChrX:153133931 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3290G>A (p.Arg1097Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002174160] |
ChrX:153864354 [GRCh38] ChrX:153129809 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2412C>T (p.Ile804=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443190]|Spastic paraplegia [RCV002127277] |
ChrX:153866668 [GRCh38] ChrX:153132123 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.695-8C>T |
single nucleotide variant |
Spastic paraplegia [RCV002094997] |
ChrX:153870507 [GRCh38] ChrX:153135962 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.695-10C>T |
single nucleotide variant |
Spastic paraplegia [RCV002097318] |
ChrX:153870509 [GRCh38] ChrX:153135964 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.806+18G>A |
single nucleotide variant |
Spastic paraplegia [RCV002205197] |
ChrX:153870370 [GRCh38] ChrX:153135825 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1673G>A (p.Arg558Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002132394] |
ChrX:153868332 [GRCh38] ChrX:153133787 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3322+7C>G |
single nucleotide variant |
Spastic paraplegia [RCV002212494] |
ChrX:153864315 [GRCh38] ChrX:153129770 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.999G>T (p.Pro333=) |
single nucleotide variant |
Spastic paraplegia [RCV002116677] |
ChrX:153869927 [GRCh38] ChrX:153135382 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3267C>T (p.His1089=) |
single nucleotide variant |
Spastic paraplegia [RCV002150739] |
ChrX:153864377 [GRCh38] ChrX:153129832 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1842G>A (p.Pro614=) |
single nucleotide variant |
Spastic paraplegia [RCV002133085]|not provided [RCV003434440] |
ChrX:153867897 [GRCh38] ChrX:153133352 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3047-20G>A |
single nucleotide variant |
Spastic paraplegia [RCV002169796] |
ChrX:153864724 [GRCh38] ChrX:153130179 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2340C>T (p.Thr780=) |
single nucleotide variant |
Spastic paraplegia [RCV002081057] |
ChrX:153866740 [GRCh38] ChrX:153132195 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1670G>C (p.Gly557Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002185498] |
ChrX:153868335 [GRCh38] ChrX:153133790 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.524-7C>T |
single nucleotide variant |
Spastic paraplegia [RCV002153360] |
ChrX:153870967 [GRCh38] ChrX:153136422 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.807-16T>G |
single nucleotide variant |
Spastic paraplegia [RCV002079018] |
ChrX:153870256 [GRCh38] ChrX:153135711 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2709G>C (p.Ser903=) |
single nucleotide variant |
Spastic paraplegia [RCV002147057] |
ChrX:153865339 [GRCh38] ChrX:153130794 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3238C>T (p.Leu1080=) |
single nucleotide variant |
Spastic paraplegia [RCV002078708] |
ChrX:153864406 [GRCh38] ChrX:153129861 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1828+5G>A |
single nucleotide variant |
not provided [RCV002214558] |
ChrX:153867993 [GRCh38] ChrX:153133448 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.1379+12G>A |
single nucleotide variant |
Spastic paraplegia [RCV002152695] |
ChrX:153868829 [GRCh38] ChrX:153134284 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.524-20G>A |
single nucleotide variant |
Spastic paraplegia [RCV002124785] |
ChrX:153870980 [GRCh38] ChrX:153136435 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs) |
microsatellite |
MASA syndrome [RCV002086744] |
ChrX:153865451..153865452 [GRCh38] ChrX:153130906..153130907 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2536C>T (p.Arg846Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002132458] |
ChrX:153865715 [GRCh38] ChrX:153131170 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1162G>A (p.Ala388Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002146450] |
ChrX:153869625 [GRCh38] ChrX:153135080 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3457+15C>T |
single nucleotide variant |
Spastic paraplegia [RCV002171353] |
ChrX:153863868 [GRCh38] ChrX:153129323 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3322+12G>A |
single nucleotide variant |
Spastic paraplegia [RCV002076572] |
ChrX:153864310 [GRCh38] ChrX:153129765 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3375C>T (p.Gly1125=) |
single nucleotide variant |
Spastic paraplegia [RCV002094535] |
ChrX:153863965 [GRCh38] ChrX:153129420 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.436G>A (p.Val146Met) |
single nucleotide variant |
L1CAM-related condition [RCV003418383]|Spastic paraplegia [RCV002132104] |
ChrX:153871144 [GRCh38] ChrX:153136599 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.400+10G>A |
single nucleotide variant |
Spastic paraplegia [RCV002173856] |
ChrX:153872142 [GRCh38] ChrX:153137597 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2715C>T (p.Pro905=) |
single nucleotide variant |
Spastic paraplegia [RCV002088995] |
ChrX:153865333 [GRCh38] ChrX:153130788 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3702G>A (p.Glu1234=) |
single nucleotide variant |
Spastic paraplegia [RCV002082966] |
ChrX:153862735 [GRCh38] ChrX:153128190 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1703+14C>T |
single nucleotide variant |
Spastic paraplegia [RCV002175856] |
ChrX:153868288 [GRCh38] ChrX:153133743 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.694+20_694+32del |
deletion |
Spastic paraplegia [RCV002177692] |
ChrX:153870758..153870770 [GRCh38] ChrX:153136213..153136225 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.721C>T (p.Arg241Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002121879] |
ChrX:153870473 [GRCh38] ChrX:153135928 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2749+18C>T |
single nucleotide variant |
Spastic paraplegia [RCV002098478] |
ChrX:153865281 [GRCh38] ChrX:153130736 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002122139]|not provided [RCV003434415] |
ChrX:153869526 [GRCh38] ChrX:153134981 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.3531-12G>C |
single nucleotide variant |
Spastic paraplegia [RCV002140358] |
ChrX:153863391 [GRCh38] ChrX:153128846 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2057C>A (p.Thr686Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002103218] |
ChrX:153867436 [GRCh38] ChrX:153132891 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.523+13G>A |
single nucleotide variant |
Spastic paraplegia [RCV002220397] |
ChrX:153871044 [GRCh38] ChrX:153136499 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1379+8T>C |
single nucleotide variant |
Spastic paraplegia [RCV002117942] |
ChrX:153868833 [GRCh38] ChrX:153134288 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.33C>G (p.Leu11=) |
single nucleotide variant |
Spastic paraplegia [RCV002139834] |
ChrX:153875804 [GRCh38] ChrX:153141259 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) |
single nucleotide variant |
Spastic paraplegia [RCV002220979] |
ChrX:153863899 [GRCh38] ChrX:153129354 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3588C>A (p.Asn1196Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002183621] |
ChrX:153862849 [GRCh38] ChrX:153128304 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152954030)_(153283591_?)dup |
duplication |
Spastic paraplegia [RCV003111187]|not provided [RCV003111188] |
ChrX:152954030..153283591 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153135069)_(153135421_?)del |
deletion |
Spastic paraplegia [RCV003111189] |
ChrX:153135069..153135421 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153001546)_(154563736_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119108] |
ChrX:153001546..154563736 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2748A>T (p.Gly916=) |
single nucleotide variant |
not provided [RCV003152207] |
ChrX:153865300 [GRCh38] ChrX:153130755 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val) |
single nucleotide variant |
Cerebellar ataxia [RCV002244238] |
ChrX:153870149 [GRCh38] ChrX:153135604 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2603_2604del (p.Lys868fs) |
deletion |
not provided [RCV002227710] |
ChrX:153865444..153865445 [GRCh38] ChrX:153130899..153130900 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.400+55G>A |
single nucleotide variant |
not provided [RCV002244606] |
ChrX:153872097 [GRCh38] ChrX:153137552 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1310T>C (p.Met437Thr) |
single nucleotide variant |
not provided [RCV003131412] |
ChrX:153868910 [GRCh38] ChrX:153134365 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1156C>T (p.Arg386Cys) |
single nucleotide variant |
See cases [RCV002253181] |
ChrX:153869631 [GRCh38] ChrX:153135086 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152815772-153624215) |
copy number gain |
Global developmental delay [RCV002280663] |
ChrX:152815772..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr) |
single nucleotide variant |
not provided [RCV003131413] |
ChrX:153865455 [GRCh38] ChrX:153130910 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) |
single nucleotide variant |
L1CAM-related condition [RCV003418432]|not provided [RCV002269408] |
ChrX:153862766 [GRCh38] ChrX:153128221 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
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:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.3550G>A (p.Glu1184Lys) |
single nucleotide variant |
not provided [RCV002261666] |
ChrX:153862887 [GRCh38] ChrX:153128342 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2857C>G (p.Leu953Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002435427] |
ChrX:153865103 [GRCh38] ChrX:153130558 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs) |
deletion |
X-linked hydrocephalus syndrome [RCV002291801] |
ChrX:153868439..153868440 [GRCh38] ChrX:153133894..153133895 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 |
copy number loss |
See cases [RCV002292203] |
ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
NM_001278116.2(L1CAM):c.407C>T (p.Pro136Leu) |
single nucleotide variant |
not provided [RCV002283233] |
ChrX:153871173 [GRCh38] ChrX:153136628 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His) |
single nucleotide variant |
MASA syndrome [RCV002272817] |
ChrX:153862682 [GRCh38] ChrX:153128137 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV002274447] |
ChrX:153866681 [GRCh38] ChrX:153132136 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV002291800] |
ChrX:153866784 [GRCh38] ChrX:153132239 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.2269C>T (p.Gln757Ter) |
single nucleotide variant |
L1 syndrome [RCV002281879] |
ChrX:153866811 [GRCh38] ChrX:153132266 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3182C>A (p.Ala1061Asp) |
single nucleotide variant |
not provided [RCV002293747] |
ChrX:153864462 [GRCh38] ChrX:153129917 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3530+2T>C |
single nucleotide variant |
X-linked complicated corpus callosum dysgenesis [RCV002290196] |
ChrX:153863475 [GRCh38] ChrX:153128930 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452334] |
ChrX:153862810 [GRCh38] ChrX:153128265 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2750-6C>T |
single nucleotide variant |
not specified [RCV002282824] |
ChrX:153865216 [GRCh38] ChrX:153130671 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV002291802] |
ChrX:153866704 [GRCh38] ChrX:153132159 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002437150]|Spastic paraplegia [RCV003102023]|not provided [RCV003481309] |
ChrX:153865441 [GRCh38] ChrX:153130896 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=) |
single nucleotide variant |
Inborn genetic diseases [RCV002367100]|Spastic paraplegia [RCV003098333] |
ChrX:153870815 [GRCh38] ChrX:153136270 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3046+5G>C |
single nucleotide variant |
not provided [RCV002281520] |
ChrX:153864816 [GRCh38] ChrX:153130271 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2712G>T (p.Gly904=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437450] |
ChrX:153865336 [GRCh38] ChrX:153130791 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2548-37C>A |
single nucleotide variant |
not provided [RCV003129402] |
ChrX:153865537 [GRCh38] ChrX:153130992 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003300930] |
ChrX:153866661 [GRCh38] ChrX:153132116 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1A>G (p.Met1Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002417110] |
ChrX:153875836 [GRCh38] ChrX:153141291 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.1703+5G>A |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV002471556] |
ChrX:153868297 [GRCh38] ChrX:153133752 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152805142-153200052)x2 |
copy number gain |
not provided [RCV002474953] |
ChrX:152805142..153200052 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 |
copy number loss |
not provided [RCV002474567] |
ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_001278116.2(L1CAM):c.2389G>A (p.Gly797Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002303776] |
ChrX:153866691 [GRCh38] ChrX:153132146 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1052G>A (p.Arg351His) |
single nucleotide variant |
Inborn genetic diseases [RCV002403922] |
ChrX:153869874 [GRCh38] ChrX:153135329 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3626C>A (p.Ala1209Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002301559] |
ChrX:153862811 [GRCh38] ChrX:153128266 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001278116.2(L1CAM):c.2334G>A (p.Thr778=) |
single nucleotide variant |
Inborn genetic diseases [RCV002457650] |
ChrX:153866746 [GRCh38] ChrX:153132201 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_001278116.2(L1CAM):c.1446G>A (p.Leu482=) |
single nucleotide variant |
Inborn genetic diseases [RCV002394460] |
ChrX:153868661 [GRCh38] ChrX:153134116 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2432-1G>A |
single nucleotide variant |
L1 syndrome [RCV002308615] |
ChrX:153865820 [GRCh38] ChrX:153131275 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=) |
single nucleotide variant |
Inborn genetic diseases [RCV002431168]|Spastic paraplegia [RCV003102133] |
ChrX:153872282 [GRCh38] ChrX:153137737 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1641G>C (p.Leu547Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002295109] |
ChrX:153868364 [GRCh38] ChrX:153133819 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala) |
single nucleotide variant |
Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002307849] |
ChrX:153872337 [GRCh38] ChrX:153137792 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2745G>A (p.Glu915=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439287] |
ChrX:153865303 [GRCh38] ChrX:153130758 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1909C>T (p.Pro637Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002408417] |
ChrX:153867830 [GRCh38] ChrX:153133285 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3752A>C (p.Asn1251Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002299662] |
ChrX:153862685 [GRCh38] ChrX:153128140 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.845C>A (p.Pro282His) |
single nucleotide variant |
Inborn genetic diseases [RCV002447547] |
ChrX:153870202 [GRCh38] ChrX:153135657 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002401579] |
ChrX:153868075 [GRCh38] ChrX:153133530 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1581A>T (p.Thr527=) |
single nucleotide variant |
Inborn genetic diseases [RCV002405811] |
ChrX:153868424 [GRCh38] ChrX:153133879 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.991+4T>A |
single nucleotide variant |
Inborn genetic diseases [RCV002382810] |
ChrX:153870052 [GRCh38] ChrX:153135507 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.139G>T (p.Val47Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002389219] |
ChrX:153872650 [GRCh38] ChrX:153138105 [GRCh37] ChrX:Xq28 |
benign|uncertain significance |
NM_001278116.2(L1CAM):c.2538C>T (p.Arg846=) |
single nucleotide variant |
Spastic paraplegia [RCV003015380] |
ChrX:153865713 [GRCh38] ChrX:153131168 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1268-5C>T |
single nucleotide variant |
Spastic paraplegia [RCV003014584] |
ChrX:153868957 [GRCh38] ChrX:153134412 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1974G>A (p.Ala658=) |
single nucleotide variant |
Spastic paraplegia [RCV002904388] |
ChrX:153867519 [GRCh38] ChrX:153132974 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.992-9T>C |
single nucleotide variant |
Spastic paraplegia [RCV002775175] |
ChrX:153869943 [GRCh38] ChrX:153135398 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3046+1G>T |
single nucleotide variant |
Spastic paraplegia [RCV002838649] |
ChrX:153864820 [GRCh38] ChrX:153130275 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.1574G>A (p.Arg525His) |
single nucleotide variant |
Spastic paraplegia [RCV002751198] |
ChrX:153868431 [GRCh38] ChrX:153133886 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3582G>A (p.Ser1194=) |
single nucleotide variant |
Spastic paraplegia [RCV002908666] |
ChrX:153862855 [GRCh38] ChrX:153128310 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1731C>T (p.Val577=) |
single nucleotide variant |
Spastic paraplegia [RCV002996937] |
ChrX:153868095 [GRCh38] ChrX:153133550 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3047-7C>A |
single nucleotide variant |
Spastic paraplegia [RCV002794933] |
ChrX:153864711 [GRCh38] ChrX:153130166 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.91+7del |
deletion |
Spastic paraplegia [RCV002690347] |
ChrX:153873221 [GRCh38] ChrX:153138676 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002973890]|not provided [RCV003434646] |
ChrX:153869553 [GRCh38] ChrX:153135008 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.707T>C (p.Ile236Thr) |
single nucleotide variant |
not provided [RCV002475304] |
ChrX:153870487 [GRCh38] ChrX:153135942 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2371G>A (p.Val791Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002907917] |
ChrX:153866709 [GRCh38] ChrX:153132164 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1170C>T (p.Ile390=) |
single nucleotide variant |
Spastic paraplegia [RCV002617822] |
ChrX:153869617 [GRCh38] ChrX:153135072 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1167G>A (p.Leu389=) |
single nucleotide variant |
Spastic paraplegia [RCV003016535] |
ChrX:153869620 [GRCh38] ChrX:153135075 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1399A>G (p.Thr467Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002994455] |
ChrX:153868708 [GRCh38] ChrX:153134163 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1774G>A (p.Val592Met) |
single nucleotide variant |
Spastic paraplegia [RCV002903721] |
ChrX:153868052 [GRCh38] ChrX:153133507 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1414G>A (p.Glu472Lys) |
single nucleotide variant |
not provided [RCV002461888] |
ChrX:153868693 [GRCh38] ChrX:153134148 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1128G>A (p.Leu376=) |
single nucleotide variant |
Spastic paraplegia [RCV003073875] |
ChrX:153869659 [GRCh38] ChrX:153135114 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2152C>G (p.Pro718Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002777451] |
ChrX:153867110 [GRCh38] ChrX:153132565 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.250G>T (p.Val84Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002819227] |
ChrX:153872302 [GRCh38] ChrX:153137757 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2281G>A (p.Gly761Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002708244] |
ChrX:153866799 [GRCh38] ChrX:153132254 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.972G>A (p.Ala324=) |
single nucleotide variant |
Spastic paraplegia [RCV002761696] |
ChrX:153870075 [GRCh38] ChrX:153135530 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002707842] |
ChrX:153864430 [GRCh38] ChrX:153129885 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3100G>A (p.Val1034Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002953685] |
ChrX:153864651 [GRCh38] ChrX:153130106 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2548-11C>T |
single nucleotide variant |
Spastic paraplegia [RCV002572024] |
ChrX:153865511 [GRCh38] ChrX:153130966 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=) |
single nucleotide variant |
Spastic paraplegia [RCV002976316] |
ChrX:153868337 [GRCh38] ChrX:153133792 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1359G>C (p.Ala453=) |
single nucleotide variant |
Spastic paraplegia [RCV002785676] |
ChrX:153868861 [GRCh38] ChrX:153134316 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3069C>T (p.Ile1023=) |
single nucleotide variant |
Spastic paraplegia [RCV003078726] |
ChrX:153864682 [GRCh38] ChrX:153130137 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1268-10C>G |
single nucleotide variant |
Spastic paraplegia [RCV003038219] |
ChrX:153868962 [GRCh38] ChrX:153134417 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.703A>G (p.Met235Val) |
single nucleotide variant |
Spastic paraplegia [RCV003079580] |
ChrX:153870491 [GRCh38] ChrX:153135946 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2089C>G (p.Pro697Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002912206] |
ChrX:153867404 [GRCh38] ChrX:153132859 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1123+3G>A |
single nucleotide variant |
Spastic paraplegia [RCV002866611] |
ChrX:153869800 [GRCh38] ChrX:153135255 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002885044]|not specified [RCV003388128] |
ChrX:153867875 [GRCh38] ChrX:153133330 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.2593C>G (p.His865Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002620914] |
ChrX:153865455 [GRCh38] ChrX:153130910 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.289A>G (p.Ile97Val) |
single nucleotide variant |
Spastic paraplegia [RCV002760152] |
ChrX:153872263 [GRCh38] ChrX:153137718 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1829-2A>G |
single nucleotide variant |
L1 syndrome [RCV002510468] |
ChrX:153867912 [GRCh38] ChrX:153133367 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.476_524-42delinsGAA |
indel |
Spastic paraplegia [RCV002979749] |
ChrX:153871002..153871104 [GRCh38] ChrX:153136457..153136559 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2892G>T (p.Gly964=) |
single nucleotide variant |
Spastic paraplegia [RCV003081247] |
ChrX:153864975 [GRCh38] ChrX:153130430 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1849C>T (p.Arg617Trp) |
single nucleotide variant |
Spastic paraplegia [RCV002695079] |
ChrX:153867890 [GRCh38] ChrX:153133345 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.756G>C (p.Leu252=) |
single nucleotide variant |
Spastic paraplegia [RCV002886525] |
ChrX:153870438 [GRCh38] ChrX:153135893 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1603del (p.Arg534_Val535insTer) |
deletion |
Spastic paraplegia [RCV002847470] |
ChrX:153868402 [GRCh38] ChrX:153133857 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.524-8C>T |
single nucleotide variant |
Spastic paraplegia [RCV002780896] |
ChrX:153870968 [GRCh38] ChrX:153136423 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.189C>T (p.Pro63=) |
single nucleotide variant |
Spastic paraplegia [RCV002780572] |
ChrX:153872600 [GRCh38] ChrX:153138055 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002976439] |
ChrX:153870184 [GRCh38] ChrX:153135639 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2109C>T (p.Val703=) |
single nucleotide variant |
Spastic paraplegia [RCV002976457] |
ChrX:153867384 [GRCh38] ChrX:153132839 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3166+18C>A |
single nucleotide variant |
Spastic paraplegia [RCV002927126] |
ChrX:153864567 [GRCh38] ChrX:153130022 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2217G>A (p.Arg739=) |
single nucleotide variant |
Spastic paraplegia [RCV002927128] |
ChrX:153866863 [GRCh38] ChrX:153132318 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2872+3G>A |
single nucleotide variant |
Spastic paraplegia [RCV002740049] |
ChrX:153865085 [GRCh38] ChrX:153130540 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.484C>G (p.Pro162Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003019453] |
ChrX:153871096 [GRCh38] ChrX:153136551 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=) |
single nucleotide variant |
Spastic paraplegia [RCV003081178] |
ChrX:153872642 [GRCh38] ChrX:153138097 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1857G>A (p.Val619=) |
single nucleotide variant |
Spastic paraplegia [RCV002948358] |
ChrX:153867882 [GRCh38] ChrX:153133337 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3068T>A (p.Ile1023Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002869143] |
ChrX:153864683 [GRCh38] ChrX:153130138 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002712382] |
ChrX:153864947 [GRCh38] ChrX:153130402 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.348C>T (p.Ala116=) |
single nucleotide variant |
Spastic paraplegia [RCV002876108] |
ChrX:153872204 [GRCh38] ChrX:153137659 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1752C>T (p.Ser584=) |
single nucleotide variant |
Spastic paraplegia [RCV002958527] |
ChrX:153868074 [GRCh38] ChrX:153133529 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002576330] |
ChrX:153865736 [GRCh38] ChrX:153131191 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002767630] |
ChrX:153865151 [GRCh38] ChrX:153130606 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1386C>A (p.Asp462Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002958637] |
ChrX:153868721 [GRCh38] ChrX:153134176 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3698A>G (p.Lys1233Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002645746] |
ChrX:153862739 [GRCh38] ChrX:153128194 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2260T>C (p.Trp754Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003023444] |
ChrX:153866820 [GRCh38] ChrX:153132275 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2943C>T (p.Thr981=) |
single nucleotide variant |
Spastic paraplegia [RCV002765979] |
ChrX:153864924 [GRCh38] ChrX:153130379 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3322+18C>T |
single nucleotide variant |
Spastic paraplegia [RCV003081808] |
ChrX:153864304 [GRCh38] ChrX:153129759 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3520G>A (p.Gly1174Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002800966] |
ChrX:153863487 [GRCh38] ChrX:153128942 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1691_1703+3dup |
duplication |
Spastic paraplegia [RCV002933060] |
ChrX:153868298..153868299 [GRCh38] ChrX:153133753..153133754 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2872+14C>T |
single nucleotide variant |
Spastic paraplegia [RCV002573098] |
ChrX:153865074 [GRCh38] ChrX:153130529 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.695-14C>A |
single nucleotide variant |
Spastic paraplegia [RCV003058801] |
ChrX:153870513 [GRCh38] ChrX:153135968 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.454G>A (p.Glu152Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003043277] |
ChrX:153871126 [GRCh38] ChrX:153136581 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2137+19C>T |
single nucleotide variant |
Spastic paraplegia [RCV003041672] |
ChrX:153867337 [GRCh38] ChrX:153132792 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.932G>A (p.Arg311His) |
single nucleotide variant |
Inborn genetic diseases [RCV002666045] |
ChrX:153870115 [GRCh38] ChrX:153135570 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3572G>C (p.Ser1191Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002766088] |
ChrX:153862865 [GRCh38] ChrX:153128320 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.3159C>T (p.Ala1053=) |
single nucleotide variant |
Spastic paraplegia [RCV002851075] |
ChrX:153864592 [GRCh38] ChrX:153130047 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003046315]|not provided [RCV003236945] |
ChrX:153872610 [GRCh38] ChrX:153138065 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
NM_001278116.2(L1CAM):c.3046+12G>A |
single nucleotide variant |
Spastic paraplegia [RCV003090597] |
ChrX:153864809 [GRCh38] ChrX:153130264 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2623G>A (p.Ala875Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003068540]|Spastic paraplegia [RCV003061094] |
ChrX:153865425 [GRCh38] ChrX:153130880 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.1380-2A>T |
single nucleotide variant |
Spastic paraplegia [RCV002857289] |
ChrX:153868729 [GRCh38] ChrX:153134184 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2123T>A (p.Val708Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002597573] |
ChrX:153867370 [GRCh38] ChrX:153132825 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2716G>A (p.Ala906Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003063516] |
ChrX:153865332 [GRCh38] ChrX:153130787 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1226G>A (p.Arg409Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003063522] |
ChrX:153869561 [GRCh38] ChrX:153135016 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.807-4G>T |
single nucleotide variant |
Spastic paraplegia [RCV002770282] |
ChrX:153870244 [GRCh38] ChrX:153135699 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3368del (p.Phe1123fs) |
deletion |
Spastic paraplegia [RCV002899064] |
ChrX:153863972 [GRCh38] ChrX:153129427 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3235G>A (p.Asp1079Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003009081] |
ChrX:153864409 [GRCh38] ChrX:153129864 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.523+9C>T |
single nucleotide variant |
Spastic paraplegia [RCV002629119] |
ChrX:153871048 [GRCh38] ChrX:153136503 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val) |
single nucleotide variant |
Spastic paraplegia [RCV002601140] |
ChrX:153875773 [GRCh38] ChrX:153141228 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2547+2T>G |
single nucleotide variant |
Spastic paraplegia [RCV002877056] |
ChrX:153865702 [GRCh38] ChrX:153131157 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3721A>G (p.Asn1241Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003048575] |
ChrX:153862716 [GRCh38] ChrX:153128171 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3530+5G>A |
single nucleotide variant |
Spastic paraplegia [RCV002598553] |
ChrX:153863472 [GRCh38] ChrX:153128927 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val) |
single nucleotide variant |
Spastic paraplegia [RCV003088802]|not provided [RCV003434573] |
ChrX:153872161 [GRCh38] ChrX:153137616 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.92-9T>C |
single nucleotide variant |
Spastic paraplegia [RCV002599240] |
ChrX:153872706 [GRCh38] ChrX:153138161 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.816C>T (p.Pro272=) |
single nucleotide variant |
Spastic paraplegia [RCV003062483] |
ChrX:153870231 [GRCh38] ChrX:153135686 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002900517] |
ChrX:153865108 [GRCh38] ChrX:153130563 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1345A>G (p.Lys449Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002832367] |
ChrX:153868875 [GRCh38] ChrX:153134330 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1829-20C>T |
single nucleotide variant |
Spastic paraplegia [RCV002629415] |
ChrX:153867930 [GRCh38] ChrX:153133385 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2702G>A (p.Arg901Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002632859] |
ChrX:153865346 [GRCh38] ChrX:153130801 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.806+14C>T |
single nucleotide variant |
Spastic paraplegia [RCV003030919] |
ChrX:153870374 [GRCh38] ChrX:153135829 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1678C>A (p.Leu560Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003086385] |
ChrX:153868327 [GRCh38] ChrX:153133782 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1380-17C>T |
single nucleotide variant |
Spastic paraplegia [RCV002988416] |
ChrX:153868744 [GRCh38] ChrX:153134199 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.366C>T (p.Thr122=) |
single nucleotide variant |
Spastic paraplegia [RCV002988511] |
ChrX:153872186 [GRCh38] ChrX:153137641 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2329A>C (p.Asn777His) |
single nucleotide variant |
Spastic paraplegia [RCV003087606] |
ChrX:153866751 [GRCh38] ChrX:153132206 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.833G>A (p.Arg278His) |
single nucleotide variant |
Spastic paraplegia [RCV003066532] |
ChrX:153870214 [GRCh38] ChrX:153135669 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3543-15C>T |
single nucleotide variant |
Spastic paraplegia [RCV003066883] |
ChrX:153862909 [GRCh38] ChrX:153128364 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2929A>G (p.Thr977Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002584572] |
ChrX:153864938 [GRCh38] ChrX:153130393 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1387G>C (p.Glu463Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002604511] |
ChrX:153868720 [GRCh38] ChrX:153134175 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp) |
single nucleotide variant |
Spastic paraplegia [RCV003066409] |
ChrX:153870934 [GRCh38] ChrX:153136389 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003066410] |
ChrX:153873241 [GRCh38] ChrX:153138696 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3530+17G>A |
single nucleotide variant |
Spastic paraplegia [RCV003068601] |
ChrX:153863460 [GRCh38] ChrX:153128915 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1595G>A (p.Gly532Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002582692] |
ChrX:153868410 [GRCh38] ChrX:153133865 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2539G>T (p.Gly847Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003050675] |
ChrX:153865712 [GRCh38] ChrX:153131167 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.3192G>A (p.Ser1064=) |
single nucleotide variant |
Spastic paraplegia [RCV002633291] |
ChrX:153864452 [GRCh38] ChrX:153129907 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003093661] |
ChrX:153870089 [GRCh38] ChrX:153135544 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3609C>T (p.Gly1203=) |
single nucleotide variant |
Spastic paraplegia [RCV003070283] |
ChrX:153862828 [GRCh38] ChrX:153128283 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002655066] |
ChrX:153867884 [GRCh38] ChrX:153133339 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2877T>G (p.Asp959Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002584599] |
ChrX:153864990 [GRCh38] ChrX:153130445 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.747C>T (p.Ser249=) |
single nucleotide variant |
Spastic paraplegia [RCV002606265] |
ChrX:153870447 [GRCh38] ChrX:153135902 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3453_3456del (p.Lys1150_Tyr1151insTer) |
deletion |
Spastic paraplegia [RCV003066407] |
ChrX:153863884..153863887 [GRCh38] ChrX:153129339..153129342 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.633C>T (p.Ala211=) |
single nucleotide variant |
Spastic paraplegia [RCV002611913] |
ChrX:153870851 [GRCh38] ChrX:153136306 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.856G>A (p.Asp286Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003093374] |
ChrX:153870191 [GRCh38] ChrX:153135646 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.991+6G>A |
single nucleotide variant |
not specified [RCV003155710] |
ChrX:153870050 [GRCh38] ChrX:153135505 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3226A>T (p.Thr1076Ser) |
single nucleotide variant |
not provided [RCV003227280] |
ChrX:153864418 [GRCh38] ChrX:153129873 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2714C>T (p.Pro905Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003193580] |
ChrX:153865334 [GRCh38] ChrX:153130789 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2311C>T (p.Pro771Ser) |
single nucleotide variant |
not provided [RCV003228279] |
ChrX:153866769 [GRCh38] ChrX:153132224 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.806+5G>C |
single nucleotide variant |
not provided [RCV003229220] |
ChrX:153870383 [GRCh38] ChrX:153135838 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2029C>T (p.Leu677Phe) |
single nucleotide variant |
not provided [RCV003219116] |
ChrX:153867464 [GRCh38] ChrX:153132919 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs) |
deletion |
X-linked hydrocephalus syndrome [RCV003219194] |
ChrX:153865493 [GRCh38] ChrX:153130948 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.3500dup (p.Met1168fs) |
duplication |
L1 syndrome [RCV003226113] |
ChrX:153863506..153863507 [GRCh38] ChrX:153128961..153128962 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2006C>G (p.Pro669Arg) |
single nucleotide variant |
not provided [RCV003214160] |
ChrX:153867487 [GRCh38] ChrX:153132942 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2854G>A (p.Val952Met) |
single nucleotide variant |
not provided [RCV003133967] |
ChrX:153865106 [GRCh38] ChrX:153130561 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1118T>C (p.Val373Ala) |
single nucleotide variant |
not provided [RCV003133965] |
ChrX:153869808 [GRCh38] ChrX:153135263 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del) |
deletion |
not provided [RCV003133966] |
ChrX:153865459..153865467 [GRCh38] ChrX:153130914..153130922 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3630T>G (p.Asp1210Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003215003] |
ChrX:153862807 [GRCh38] ChrX:153128262 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1166del (p.Leu389fs) |
deletion |
not provided [RCV003146864] |
ChrX:153869621 [GRCh38] ChrX:153135076 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2900C>T (p.Ser967Phe) |
single nucleotide variant |
not provided [RCV003323212] |
ChrX:153864967 [GRCh38] ChrX:153130422 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1066G>T (p.Val356Phe) |
single nucleotide variant |
not provided [RCV003323035] |
ChrX:153869860 [GRCh38] ChrX:153135315 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1365del (p.Ser457fs) |
deletion |
not provided [RCV003319614] |
ChrX:153868855 [GRCh38] ChrX:153134310 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003262724] |
ChrX:153870116 [GRCh38] ChrX:153135571 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3613G>A (p.Asp1205Asn) |
single nucleotide variant |
not provided [RCV003319894] |
ChrX:153862824 [GRCh38] ChrX:153128279 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln) |
single nucleotide variant |
not provided [RCV003328521] |
ChrX:153864847 [GRCh38] ChrX:153130302 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3583C>G (p.Leu1195Val) |
single nucleotide variant |
not provided [RCV003329729] |
ChrX:153862854 [GRCh38] ChrX:153128309 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1430A>C (p.Tyr477Ser) |
single nucleotide variant |
X-linked complicated corpus callosum dysgenesis [RCV003340912] |
ChrX:153868677 [GRCh38] ChrX:153134132 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1811_1816dup (p.Gln605_Leu606insProGln) |
duplication |
not specified [RCV003331867] |
ChrX:153868009..153868010 [GRCh38] ChrX:153133464..153133465 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3043T>C (p.Ser1015Pro) |
single nucleotide variant |
not specified [RCV003331736] |
ChrX:153864824 [GRCh38] ChrX:153130279 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3092A>T (p.Tyr1031Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003364364] |
ChrX:153864659 [GRCh38] ChrX:153130114 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1341G>A (p.Leu447=) |
single nucleotide variant |
Spastic paraplegia [RCV003875002] |
ChrX:153868879 [GRCh38] ChrX:153134334 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2253C>T (p.Arg751=) |
single nucleotide variant |
Spastic paraplegia [RCV003873172] |
ChrX:153866827 [GRCh38] ChrX:153132282 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1014G>A (p.Lys338=) |
single nucleotide variant |
Spastic paraplegia [RCV003873181] |
ChrX:153869912 [GRCh38] ChrX:153135367 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2547+14G>T |
single nucleotide variant |
Spastic paraplegia [RCV003873199] |
ChrX:153865690 [GRCh38] ChrX:153131145 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3373G>A (p.Gly1125Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003873301] |
ChrX:153863967 [GRCh38] ChrX:153129422 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1796T>C (p.Val599Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003874200] |
ChrX:153868030 [GRCh38] ChrX:153133485 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2769G>A (p.Ala923=) |
single nucleotide variant |
Spastic paraplegia [RCV003874549] |
ChrX:153865191 [GRCh38] ChrX:153130646 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3543-9C>T |
single nucleotide variant |
Spastic paraplegia [RCV003874560] |
ChrX:153862903 [GRCh38] ChrX:153128358 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.799G>A (p.Glu267Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003875128] |
ChrX:153870395 [GRCh38] ChrX:153135850 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1829-19C>T |
single nucleotide variant |
Spastic paraplegia [RCV003873798] |
ChrX:153867929 [GRCh38] ChrX:153133384 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.124C>T (p.Pro42Ser) |
single nucleotide variant |
not provided [RCV003482754] |
ChrX:153872665 [GRCh38] ChrX:153138120 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3048G>A (p.Gly1016=) |
single nucleotide variant |
Spastic paraplegia [RCV003874533] |
ChrX:153864703 [GRCh38] ChrX:153130158 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3334C>T (p.Leu1112Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003874879] |
ChrX:153864006 [GRCh38] ChrX:153129461 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3323-15G>A |
single nucleotide variant |
Spastic paraplegia [RCV003874622] |
ChrX:153864032 [GRCh38] ChrX:153129487 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 |
copy number loss |
not provided [RCV003483929] |
ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 |
copy number loss |
not provided [RCV003483936] |
ChrX:148598351..154943978 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 |
copy number gain |
not provided [RCV003483984] |
ChrX:152707335..153624154 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 |
copy number gain |
not provided [RCV003483986] |
ChrX:152916854..154775938 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 |
copy number gain |
not provided [RCV003483987] |
ChrX:152941303..153549189 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_001278116.2(L1CAM):c.1187C>T (p.Pro396Leu) |
single nucleotide variant |
L1CAM-related condition [RCV003402468] |
ChrX:153869600 [GRCh38] ChrX:153135055 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2138C>G (p.Ala713Gly) |
single nucleotide variant |
not specified [RCV003479968] |
ChrX:153867124 [GRCh38] ChrX:153132579 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.991+1G>A |
single nucleotide variant |
L1CAM-related condition [RCV003397789] |
ChrX:153870055 [GRCh38] ChrX:153135510 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 |
copy number loss |
not provided [RCV003483930] |
ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_001278116.2(L1CAM):c.20A>G (p.Tyr7Cys) |
single nucleotide variant |
not provided [RCV003480417] |
ChrX:153875817 [GRCh38] ChrX:153141272 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2279G>A (p.Arg760Gln) |
single nucleotide variant |
not provided [RCV003480416] |
ChrX:153866801 [GRCh38] ChrX:153132256 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2739C>T (p.Thr913=) |
single nucleotide variant |
not provided [RCV003482755] |
ChrX:153865309 [GRCh38] ChrX:153130764 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1806T>G (p.Ser602Arg) |
single nucleotide variant |
L1CAM-related condition [RCV003402651] |
ChrX:153868020 [GRCh38] ChrX:153133475 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile) |
single nucleotide variant |
not provided [RCV003457628] |
ChrX:153863934 [GRCh38] ChrX:153129389 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3118del (p.Glu1040fs) |
deletion |
L1CAM-related condition [RCV003404552] |
ChrX:153864633 [GRCh38] ChrX:153130088 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_001278116.2(L1CAM):c.2648G>C (p.Ser883Thr) |
single nucleotide variant |
not provided [RCV003443771] |
ChrX:153865400 [GRCh38] ChrX:153130855 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.114G>A (p.Thr38=) |
single nucleotide variant |
not provided [RCV003432623] |
ChrX:153872675 [GRCh38] ChrX:153138130 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs) |
deletion |
L1CAM-related condition [RCV003391647] |
ChrX:153868579 [GRCh38] ChrX:153134034 [GRCh37] ChrX:Xq28 |
pathogenic|likely pathogenic |
NM_001278116.2(L1CAM):c.1533C>A (p.Asn511Lys) |
single nucleotide variant |
not specified [RCV003404986] |
ChrX:153868574 [GRCh38] ChrX:153134029 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.247G>C (p.Gly83Arg) |
single nucleotide variant |
L1CAM-related condition [RCV003416709] |
ChrX:153872305 [GRCh38] ChrX:153137760 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu) |
single nucleotide variant |
L1CAM-related condition [RCV003392871] |
ChrX:153870155 [GRCh38] ChrX:153135610 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_001278116.2(L1CAM):c.827G>T (p.Trp276Leu) |
single nucleotide variant |
L1CAM-related condition [RCV003417003] |
ChrX:153870220 [GRCh38] ChrX:153135675 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.895C>A (p.Leu299Met) |
single nucleotide variant |
not provided [RCV003441648] |
ChrX:153870152 [GRCh38] ChrX:153135607 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1878G>A (p.Leu626=) |
single nucleotide variant |
not provided [RCV003432621] |
ChrX:153867861 [GRCh38] ChrX:153133316 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3473A>G (p.Asp1158Gly) |
single nucleotide variant |
not provided [RCV003442614] |
ChrX:153863534 [GRCh38] ChrX:153128989 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.1839G>A (p.Gly613=) |
single nucleotide variant |
not provided [RCV003432622] |
ChrX:153867900 [GRCh38] ChrX:153133355 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2942C>T (p.Thr981Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003878298] |
ChrX:153864925 [GRCh38] ChrX:153130380 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1480C>T (p.Arg494Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003824788] |
ChrX:153868627 [GRCh38] ChrX:153134082 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2876A>G (p.Asp959Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003879903] |
ChrX:153864991 [GRCh38] ChrX:153130446 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2944G>A (p.Asp982Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003877527] |
ChrX:153864923 [GRCh38] ChrX:153130378 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.3457+5C>T |
single nucleotide variant |
Spastic paraplegia [RCV003879447] |
ChrX:153863878 [GRCh38] ChrX:153129333 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001278116.2(L1CAM):c.2547+14G>C |
single nucleotide variant |
Spastic paraplegia [RCV003877172] |
ChrX:153865690 [GRCh38] ChrX:153131145 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1829-11C>T |
single nucleotide variant |
Spastic paraplegia [RCV003877991] |
ChrX:153867921 [GRCh38] ChrX:153133376 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.858C>T (p.Asp286=) |
single nucleotide variant |
Spastic paraplegia [RCV003879590] |
ChrX:153870189 [GRCh38] ChrX:153135644 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.2049C>T (p.Val683=) |
single nucleotide variant |
Spastic paraplegia [RCV003876650] |
ChrX:153867444 [GRCh38] ChrX:153132899 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1940-14T>C |
single nucleotide variant |
Spastic paraplegia [RCV003879823] |
ChrX:153867567 [GRCh38] ChrX:153133022 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.2548-10G>A |
single nucleotide variant |
Spastic paraplegia [RCV003876460] |
ChrX:153865510 [GRCh38] ChrX:153130965 [GRCh37] ChrX:Xq28 |
likely benign |
NM_001278116.2(L1CAM):c.1773C>T (p.Cys591=) |
single nucleotide variant |
Spastic paraplegia [RCV003876398] |
ChrX:153868053 [GRCh38] ChrX:153133508 [GRCh37] ChrX:Xq28 |
benign |
NM_001278116.2(L1CAM):c.3639C>T (p.Gly1213=) |
single nucleotide variant |
Spastic paraplegia [RCV003878971] |
ChrX:153862798 [GRCh38] ChrX:153128253 [GRCh37] ChrX:Xq28 |
likely benign |