NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) |
deletion |
ALS2-related disorder [RCV004541601]|Infantile-onset ascending hereditary spastic paralysis [RCV000547809]|not specified [RCV000518496] |
Chr2:201733357..201733365 [GRCh38] Chr2:202598080..202598088 [GRCh37] Chr2:2q33.1 |
benign|likely benign|uncertain significance |
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002525016]|Infantile-onset ascending hereditary spastic paralysis [RCV002527453]|not specified [RCV000516809] |
Chr2:201701861 [GRCh38] Chr2:202566584 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.1969A>G (p.Lys657Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000549260] |
Chr2:201746595 [GRCh38] Chr2:202611318 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.2:c.[1825_1826insCAGTG;3529G>T] |
insertion |
Infantile-onset ascending hereditary spastic paralysis [RCV000034965] |
|
pathogenic |
NM_020919.2:c.[3565delG;62848G>C] |
deletion |
Amyotrophic lateral sclerosis type 2 [RCV000034989] |
|
pathogenic |
NM_020919.4(ALS2):c.2581-5T>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000526173] |
Chr2:201729188 [GRCh38] Chr2:202593911 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.468G>A (p.Ala156=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002060230]|not specified [RCV000517340] |
Chr2:201761526 [GRCh38] Chr2:202626249 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002525221]|not provided [RCV000521782] |
Chr2:201760961 [GRCh38] Chr2:202625684 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.138del (p.Ala47fs) |
deletion |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000004655] |
Chr2:201767266 [GRCh38] Chr2:202631989 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000995486]|Juvenile primary lateral sclerosis [RCV000004656] |
Chr2:201746696..201746697 [GRCh38] Chr2:202611419..202611420 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) |
microsatellite |
Juvenile primary lateral sclerosis [RCV000004657]|not provided [RCV004799732] |
Chr2:201757445..201757446 [GRCh38] Chr2:202622168..202622169 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000004658] |
Chr2:201723335 [GRCh38] Chr2:202588058 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000004659] |
Chr2:201754672 [GRCh38] Chr2:202619395 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000004660] |
Chr2:201733318..201733319 [GRCh38] Chr2:202598041..202598042 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000004661] |
Chr2:201760986..201760987 [GRCh38] Chr2:202625709..202625710 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.4721del (p.Val1574fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000004662] |
Chr2:201704571 [GRCh38] Chr2:202569294 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000004663] |
Chr2:201726854 [GRCh38] Chr2:202591577 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.553del (p.Thr185fs) |
deletion |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000004664]|Juvenile primary lateral sclerosis [RCV000995489] |
Chr2:201761441 [GRCh38] Chr2:202626164 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000004665]|not provided [RCV001090658] |
Chr2:201761524 [GRCh38] Chr2:202626247 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.2980-2A>G |
single nucleotide variant |
Juvenile primary lateral sclerosis [RCV000004666] |
Chr2:201726868 [GRCh38] Chr2:202591591 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000004667] |
Chr2:201744285 [GRCh38] Chr2:202609008 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1999-2A>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000034887] |
Chr2:201744431 [GRCh38] Chr2:202609154 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu) |
single nucleotide variant |
Juvenile primary lateral sclerosis [RCV000034964] |
Chr2:201754524 [GRCh38] Chr2:202619247 [GRCh37] Chr2:2q33.1 |
pathogenic |
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 |
copy number loss |
See cases [RCV000050980] |
Chr2:174898848..203941548 [GRCh38] Chr2:175763576..204806271 [GRCh37] Chr2:175471822..204514516 [NCBI36] Chr2:2q31.1-33.2 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 |
copy number gain |
See cases [RCV000051119] |
Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] |
Chr2:198095810..211803453 [GRCh38] Chr2:198960534..212668178 [GRCh37] Chr2:198668779..212376423 [NCBI36] Chr2:2q33.1-34 |
pathogenic |
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 |
copy number loss |
See cases [RCV000052605] |
Chr2:200520961..203566211 [GRCh38] Chr2:201385684..204430934 [GRCh37] Chr2:201093929..204139179 [NCBI36] Chr2:2q33.1-33.2 |
pathogenic |
GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1 |
copy number loss |
See cases [RCV000052606] |
Chr2:201537291..201896769 [GRCh38] Chr2:202402014..202761492 [GRCh37] Chr2:202110259..202469737 [NCBI36] Chr2:2q33.1 |
pathogenic |
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 |
copy number loss |
See cases [RCV000052558] |
Chr2:176304445..202039790 [GRCh38] Chr2:177169173..202904513 [GRCh37] Chr2:176877419..202612758 [NCBI36] Chr2:2q31.1-33.1 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] |
Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
NM_020919.3(ALS2):c.3907C>T (p.Gln1303Ter) |
single nucleotide variant |
Malignant melanoma [RCV000065360] |
Chr2:201715769 [GRCh38] Chr2:202580492 [GRCh37] Chr2:202288737 [NCBI36] Chr2:2q33.1 |
not provided |
NM_020919.3(ALS2):c.3043C>T (p.Pro1015Ser) |
single nucleotide variant |
Malignant melanoma [RCV000065361] |
Chr2:201726803 [GRCh38] Chr2:202591526 [GRCh37] Chr2:202299771 [NCBI36] Chr2:2q33.1 |
not provided |
NM_020919.3(ALS2):c.141C>T (p.Ala47=) |
single nucleotide variant |
Malignant melanoma [RCV000065362] |
Chr2:201767263 [GRCh38] Chr2:202631986 [GRCh37] Chr2:202340231 [NCBI36] Chr2:2q33.1 |
not provided |
NM_020919.3(ALS2):c.3802C>T (p.Leu1268=) |
single nucleotide variant |
Malignant melanoma [RCV000060459] |
Chr2:201718111 [GRCh38] Chr2:202582834 [GRCh37] Chr2:202291079 [NCBI36] Chr2:2q33.1 |
not provided |
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001095478]|Infantile-onset ascending hereditary spastic paralysis [RCV000087053]|not provided [RCV000171328] |
Chr2:201728592 [GRCh38] Chr2:202593315 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic|no classifications from unflagged records |
NM_020919.4(ALS2):c.1885G>A (p.Glu629Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004036261]|Infantile-onset ascending hereditary spastic paralysis [RCV001303045] |
Chr2:201746679 [GRCh38] Chr2:202611402 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000190777]|Infantile-onset ascending hereditary spastic paralysis [RCV003502523]|not provided [RCV004719741] |
Chr2:201704160 [GRCh38] Chr2:202568883 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic|uncertain significance |
NM_020919.4(ALS2):c.2581-24del |
deletion |
not provided [RCV001572163] |
Chr2:201729207 [GRCh38] Chr2:202593930 [GRCh37] Chr2:2q33.1 |
likely benign |
GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3 |
copy number gain |
See cases [RCV000134147] |
Chr2:201674160..202308811 [GRCh38] Chr2:202538883..203173534 [GRCh37] Chr2:202247128..202881779 [NCBI36] Chr2:2q33.1 |
uncertain significance |
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 |
copy number loss |
See cases [RCV000135341] |
Chr2:195660594..203969488 [GRCh38] Chr2:196525318..204834211 [GRCh37] Chr2:196233563..204542456 [NCBI36] Chr2:2q32.3-33.2 |
pathogenic |
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 |
copy number loss |
See cases [RCV000135665] |
Chr2:197400023..202089348 [GRCh38] Chr2:198264747..202954071 [GRCh37] Chr2:197972992..202662316 [NCBI36] Chr2:2q33.1 |
likely pathogenic |
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 |
copy number loss |
See cases [RCV000136596] |
Chr2:198767347..202353840 [GRCh38] Chr2:199632071..203218563 [GRCh37] Chr2:199340316..202926808 [NCBI36] Chr2:2q33.1 |
pathogenic |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 |
copy number gain |
See cases [RCV000139446] |
Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 |
copy number loss |
See cases [RCV000141254] |
Chr2:192938826..215705052 [GRCh38] Chr2:193803552..216569775 [GRCh37] Chr2:193511797..216278020 [NCBI36] Chr2:2q32.3-35 |
pathogenic |
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 |
copy number loss |
See cases [RCV000141076] |
Chr2:199946494..209985195 [GRCh38] Chr2:200811217..210849919 [GRCh37] Chr2:200519462..210558164 [NCBI36] Chr2:2q33.1-34 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 |
copy number loss |
See cases [RCV000143301] |
Chr2:199937273..210031924 [GRCh38] Chr2:200801996..210896648 [GRCh37] Chr2:200510241..210604893 [NCBI36] Chr2:2q33.1-34 |
pathogenic |
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000162071] |
Chr2:201744426 [GRCh38] Chr2:202609149 [GRCh37] Chr2:2q33.1 |
pathogenic|not provided |
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) |
duplication |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000162072]|Infantile-onset ascending hereditary spastic paralysis [RCV001089474] |
Chr2:201706852..201706853 [GRCh38] Chr2:202571575..202571576 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic|not provided |
NM_020919.3(ALS2):c.-329G>A |
single nucleotide variant |
ALS2-related disorder [RCV000259954]|Amyotrophic Lateral Sclerosis, Recessive [RCV000317537] |
Chr2:201781145 [GRCh38] Chr2:202645868 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1805G>A (p.Arg602His) |
single nucleotide variant |
ALS2-related disorder [RCV000336519]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000297939] |
Chr2:201749722 [GRCh38] Chr2:202614445 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3625-16_3625-15del |
deletion |
ALS2-related disorder [RCV000407533]|Amyotrophic Lateral Sclerosis, Recessive [RCV000301154]|Infantile-onset ascending hereditary spastic paralysis [RCV002057637]|not provided [RCV001549975] |
Chr2:201723135..201723136 [GRCh38] Chr2:202587858..202587859 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) |
single nucleotide variant |
ALS2-related disorder [RCV000261194]|Amyotrophic lateral sclerosis [RCV001260560]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000355910]|Hereditary spastic paraplegia [RCV000515815]|Infantile-onset ascending hereditary spastic paralysis [RCV000863616]|not provided [RCV001590976] |
Chr2:201726526 [GRCh38] Chr2:202591249 [GRCh37] Chr2:2q33.1 |
pathogenic|benign|uncertain significance |
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser) |
single nucleotide variant |
ALS2-related disorder [RCV000277763]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000388460]|Inborn genetic diseases [RCV004639223] |
Chr2:201760997 [GRCh38] Chr2:202625720 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.20+9A>G |
single nucleotide variant |
ALS2-related disorder [RCV000279639]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000341635] |
Chr2:201768857 [GRCh38] Chr2:202633580 [GRCh37] Chr2:2q33.1 |
pathogenic|uncertain significance |
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys) |
single nucleotide variant |
ALS2-related disorder [RCV001143535]|Hereditary spastic paraplegia [RCV001847937]|Infantile-onset ascending hereditary spastic paralysis [RCV000206059]|not provided [RCV001594874]|not specified [RCV000516738] |
Chr2:201723437 [GRCh38] Chr2:202588160 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.4004+6T>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000524821] |
Chr2:201715666 [GRCh38] Chr2:202580389 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) |
single nucleotide variant |
ALS2-related disorder [RCV000388670]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000294407]|Hereditary spastic paraplegia [RCV001848004]|Infantile-onset ascending hereditary spastic paralysis [RCV001082502]|not provided [RCV000756988] |
Chr2:201741784 [GRCh38] Chr2:202606507 [GRCh37] Chr2:2q33.1 |
benign|likely benign|uncertain significance |
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) |
single nucleotide variant |
ALS2-related disorder [RCV001142050]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000330397]|Amyotrophic lateral sclerosis type 2, juvenile [RCV002494657]|Hereditary spastic paraplegia [RCV001848005]|Infantile-onset ascending hereditary spastic paralysis [RCV000227758]|not provided [RCV001711641]|not specified [RCV001287973] |
Chr2:201761519 [GRCh38] Chr2:202626242 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) |
single nucleotide variant |
ALS2-related disorder [RCV001137184]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000764355]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139424]|Hereditary spastic paraplegia [RCV001848003]|Infantile-onset ascending hereditary spastic paralysis [RCV001082210]|not provided [RCV000512695]|not specified [RCV000516346] |
Chr2:201757758 [GRCh38] Chr2:202622481 [GRCh37] Chr2:2q33.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) |
single nucleotide variant |
ALS2-related disorder [RCV001141604]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141605]|Hereditary spastic paraplegia [RCV001848006]|Infantile-onset ascending hereditary spastic paralysis [RCV000230667]|not provided [RCV001596997]|not specified [RCV000518222] |
Chr2:201704528 [GRCh38] Chr2:202569251 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.1425_1428del (p.Gly477fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000232793] |
Chr2:201757445..201757448 [GRCh38] Chr2:202622168..202622171 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1623C>T (p.His541=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000226594] |
Chr2:201754520 [GRCh38] Chr2:202619243 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4498G>A (p.Glu1500Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000232857] |
Chr2:201706928 [GRCh38] Chr2:202571651 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) |
single nucleotide variant |
ALS2-related disorder [RCV000377762]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000323025]|Hereditary spastic paraplegia [RCV001848051]|Infantile-onset ascending hereditary spastic paralysis [RCV001084529]|not provided [RCV000539511]|not specified [RCV000277866] |
Chr2:201710994 [GRCh38] Chr2:202575717 [GRCh37] Chr2:2q33.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) |
single nucleotide variant |
ALS2-related disorder [RCV000313623]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000368212]|Infantile-onset ascending hereditary spastic paralysis [RCV000863516] |
Chr2:201715800 [GRCh38] Chr2:202580523 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) |
single nucleotide variant |
ALS2-related disorder [RCV000382737]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000328276]|Hereditary spastic paraplegia [RCV001848678]|Infantile-onset ascending hereditary spastic paralysis [RCV000813075]|Peripheral axonal neuropathy [RCV000414980]|Tip-toe gait [RCV001358657]|not provided [RCV001580056]|not specified [RCV001289224] |
Chr2:201733377 [GRCh38] Chr2:202598100 [GRCh37] Chr2:2q33.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004023998]|Infantile-onset ascending hereditary spastic paralysis [RCV000545112] |
Chr2:201757440 [GRCh38] Chr2:202622163 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) |
single nucleotide variant |
ALS2-related disorder [RCV000316456]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000361538]|Hereditary spastic paraplegia [RCV001848676]|Infantile-onset ascending hereditary spastic paralysis [RCV000703570] |
Chr2:201727708 [GRCh38] Chr2:202592431 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.1251A>G (p.Ser417=) |
single nucleotide variant |
ALS2-related disorder [RCV000309519]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000366368] |
Chr2:201757622 [GRCh38] Chr2:202622345 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.20+7T>C |
single nucleotide variant |
ALS2-related disorder [RCV000399186]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000302011]|Infantile-onset ascending hereditary spastic paralysis [RCV001509594]|Juvenile primary lateral sclerosis [RCV001548882]|not provided [RCV001610719]|not specified [RCV000243518] |
Chr2:201768859 [GRCh38] Chr2:202633582 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.3(ALS2):c.-128C>T |
single nucleotide variant |
ALS2-related disorder [RCV000370614]|Amyotrophic Lateral Sclerosis, Recessive [RCV000273644] |
Chr2:201780944 [GRCh38] Chr2:202645667 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.*15T>G |
single nucleotide variant |
ALS2-related disorder [RCV000390506]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000285997] |
Chr2:201701836 [GRCh38] Chr2:202566559 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*105A>C |
single nucleotide variant |
ALS2-related disorder [RCV000335270]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000280255]|not provided [RCV001582977] |
Chr2:201701746 [GRCh38] Chr2:202566469 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.-95G>C |
single nucleotide variant |
ALS2-related disorder [RCV000270281]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000313725]|not provided [RCV004708472] |
Chr2:201780911 [GRCh38] Chr2:202645634 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) |
single nucleotide variant |
ALS2-related disorder [RCV000269440]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000326864]|Infantile-onset ascending hereditary spastic paralysis [RCV001509593]|Juvenile primary lateral sclerosis [RCV001548881]|not provided [RCV000710519]|not specified [RCV000243956] |
Chr2:201760892 [GRCh38] Chr2:202625615 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2842-16G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001515527]|not provided [RCV001675754]|not specified [RCV000253757] |
Chr2:201727791 [GRCh38] Chr2:202592514 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1114-27A>G |
single nucleotide variant |
not provided [RCV001618462]|not specified [RCV000246510] |
Chr2:201757786 [GRCh38] Chr2:202622509 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1816-8C>T |
single nucleotide variant |
ALS2-related disorder [RCV000400905]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000349374]|Hereditary spastic paraplegia [RCV001848038]|Infantile-onset ascending hereditary spastic paralysis [RCV001087893]|not provided [RCV000710520]|not specified [RCV000251509] |
Chr2:201746756 [GRCh38] Chr2:202611479 [GRCh37] Chr2:2q33.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020919.4(ALS2):c.4004+25C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001549267]|Infantile-onset ascending hereditary spastic paralysis [RCV001549269]|Juvenile primary lateral sclerosis [RCV001549268]|not provided [RCV001651241]|not specified [RCV000254072] |
Chr2:201715647 [GRCh38] Chr2:202580370 [GRCh37] Chr2:2q33.1 |
benign |
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 |
copy number gain |
See cases [RCV000240410] |
Chr2:200776457..203070949 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2466G>A (p.Val822=) |
single nucleotide variant |
ALS2-related disorder [RCV000352784]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000288406]|Infantile-onset ascending hereditary spastic paralysis [RCV001509592]|Juvenile primary lateral sclerosis [RCV001548877]|not provided [RCV000710522]|not specified [RCV000249292] |
Chr2:201733390 [GRCh38] Chr2:202598113 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) |
single nucleotide variant |
ALS2-related disorder [RCV000267099]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000322182]|Infantile-onset ascending hereditary spastic paralysis [RCV001510257]|not provided [RCV001636812]|not specified [RCV000254279] |
Chr2:201728557 [GRCh38] Chr2:202593280 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.4580+7G>A |
single nucleotide variant |
ALS2-related disorder [RCV000391745]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000306834]|Infantile-onset ascending hereditary spastic paralysis [RCV001509590]|Juvenile primary lateral sclerosis [RCV001549262]|not provided [RCV001660346]|not specified [RCV000242163] |
Chr2:201706839 [GRCh38] Chr2:202571562 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) |
single nucleotide variant |
ALS2-related disorder [RCV000387223]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000281155]|Hereditary spastic paraplegia [RCV001848039]|Infantile-onset ascending hereditary spastic paralysis [RCV000459871]|not provided [RCV001706359]|not specified [RCV000244654] |
Chr2:201761714 [GRCh38] Chr2:202626437 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.4123-64G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001549263]|Infantile-onset ascending hereditary spastic paralysis [RCV001549265]|Juvenile primary lateral sclerosis [RCV001549264]|not provided [RCV001673194] |
Chr2:201710102 [GRCh38] Chr2:202574825 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4581-48T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001549259]|Infantile-onset ascending hereditary spastic paralysis [RCV001549261]|Juvenile primary lateral sclerosis [RCV001549260]|not provided [RCV001711575]|not specified [RCV000247168] |
Chr2:201705509 [GRCh38] Chr2:202570232 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2841+48del |
deletion |
not provided [RCV001660345]|not specified [RCV000249600] |
Chr2:201728464 [GRCh38] Chr2:202593187 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.4004+34A>G |
single nucleotide variant |
not specified [RCV000245264] |
Chr2:201715638 [GRCh38] Chr2:202580361 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.*942A>G |
single nucleotide variant |
ALS2-related disorder [RCV000265872]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000302547] |
Chr2:201700909 [GRCh38] Chr2:202565632 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) |
single nucleotide variant |
ALS2-related disorder [RCV000347093]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000283291]|Infantile-onset ascending hereditary spastic paralysis [RCV001509591]|Juvenile primary lateral sclerosis [RCV001549266]|not provided [RCV000710524]|not specified [RCV000250217] |
Chr2:201711098 [GRCh38] Chr2:202575821 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.*912A>G |
single nucleotide variant |
ALS2-related disorder [RCV000366533]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000271890] |
Chr2:201700939 [GRCh38] Chr2:202565662 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) |
single nucleotide variant |
ALS2-related disorder [RCV000276464]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000370877]|Infantile-onset ascending hereditary spastic paralysis [RCV000862055]|not provided [RCV001571366]|not specified [RCV001289226] |
Chr2:201707010 [GRCh38] Chr2:202571733 [GRCh37] Chr2:2q33.1 |
benign|likely benign|uncertain significance |
NM_020919.4(ALS2):c.3248+50G>A |
single nucleotide variant |
not provided [RCV004710667]|not specified [RCV000245744] |
Chr2:201726434 [GRCh38] Chr2:202591157 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) |
single nucleotide variant |
ALS2-related disorder [RCV000398431]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000344027]|Hereditary spastic paraplegia [RCV001848040]|Infantile-onset ascending hereditary spastic paralysis [RCV000465089]|not provided [RCV001636813]|not specified [RCV000250738] |
Chr2:201715791 [GRCh38] Chr2:202580514 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.*447G>A |
single nucleotide variant |
ALS2-related disorder [RCV000277935]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000333101] |
Chr2:201701404 [GRCh38] Chr2:202566127 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.*1202C>T |
single nucleotide variant |
ALS2-related disorder [RCV000400706]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000300059] |
Chr2:201700649 [GRCh38] Chr2:202565372 [GRCh37] Chr2:2q33.1 |
benign|uncertain significance |
NM_020919.4(ALS2):c.*1100A>G |
single nucleotide variant |
ALS2-related disorder [RCV000336245]|Amyotrophic Lateral Sclerosis, Recessive [RCV000408039] |
Chr2:201700751 [GRCh38] Chr2:202565474 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*163A>G |
single nucleotide variant |
ALS2-related disorder [RCV000337836]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000373830]|not provided [RCV001590975] |
Chr2:201701688 [GRCh38] Chr2:202566411 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=) |
single nucleotide variant |
ALS2-related disorder [RCV000402291]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000289092] |
Chr2:201715746 [GRCh38] Chr2:202580469 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*1004G>A |
single nucleotide variant |
ALS2-related disorder [RCV000305695]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000360466]|not provided [RCV004708470] |
Chr2:201700847 [GRCh38] Chr2:202565570 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) |
single nucleotide variant |
ALS2-related disorder [RCV000392611]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000340981]|Infantile-onset ascending hereditary spastic paralysis [RCV002521362] |
Chr2:201701867 [GRCh38] Chr2:202566590 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) |
single nucleotide variant |
ALS2-related disorder [RCV000291959]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000376765]|Hereditary spastic paraplegia [RCV001848677]|Infantile-onset ascending hereditary spastic paralysis [RCV000685367]|not provided [RCV001579967] |
Chr2:201729052 [GRCh38] Chr2:202593775 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) |
single nucleotide variant |
ALS2-related disorder [RCV000407711]|Amyotrophic Lateral Sclerosis, Recessive [RCV000306041]|Hereditary spastic paraplegia [RCV001848679]|Infantile-onset ascending hereditary spastic paralysis [RCV000546027]|not provided [RCV001580129] |
Chr2:201753206 [GRCh38] Chr2:202617929 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.*379T>A |
single nucleotide variant |
ALS2-related disorder [RCV000387560]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000292159] |
Chr2:201701472 [GRCh38] Chr2:202566195 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.*1538C>G |
single nucleotide variant |
ALS2-related disorder [RCV000389144]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000343965] |
Chr2:201700313 [GRCh38] Chr2:202565036 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*893C>T |
single nucleotide variant |
ALS2-related disorder [RCV000381762]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000326977]|not provided [RCV004708471] |
Chr2:201700958 [GRCh38] Chr2:202565681 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.-93A>G |
single nucleotide variant |
ALS2-related disorder [RCV000310299]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000362634] |
Chr2:201780909 [GRCh38] Chr2:202645632 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4581-7A>G |
single nucleotide variant |
ALS2-related disorder [RCV000365254]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000310484]|Infantile-onset ascending hereditary spastic paralysis [RCV000861830]|not provided [RCV001571615]|not specified [RCV001660693] |
Chr2:201705468 [GRCh38] Chr2:202570191 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.3(ALS2):c.-328A>G |
single nucleotide variant |
ALS2-related disorder [RCV000374101]|Amyotrophic Lateral Sclerosis, Recessive [RCV000331178] |
Chr2:201781144 [GRCh38] Chr2:202645867 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4404-14C>T |
single nucleotide variant |
ALS2-related disorder [RCV000331486]|Amyotrophic Lateral Sclerosis, Recessive [RCV000356769] |
Chr2:201707036 [GRCh38] Chr2:202571759 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg) |
single nucleotide variant |
ALS2-related disorder [RCV000261969]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000317080] |
Chr2:201707906 [GRCh38] Chr2:202572629 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) |
single nucleotide variant |
ALS2-related disorder [RCV000358508]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000266152]|not provided [RCV003311764] |
Chr2:201757590 [GRCh38] Chr2:202622313 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2675C>T (p.Thr892Ile) |
single nucleotide variant |
not provided [RCV000489470] |
Chr2:201729089 [GRCh38] Chr2:202593812 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3597_3599del (p.Glu1199_Gly1200delinsAsp) |
deletion |
not provided [RCV000487866] |
Chr2:201723355..201723357 [GRCh38] Chr2:202588078..202588080 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000490310] |
Chr2:201757569 [GRCh38] Chr2:202622292 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002512105]|Infantile-onset ascending hereditary spastic paralysis [RCV003611516]|Tip-toe gait [RCV003318583]|not provided [RCV000488207] |
Chr2:201726688 [GRCh38] Chr2:202591411 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002525015]|Infantile-onset ascending hereditary spastic paralysis [RCV001857890]|not provided [RCV004800440]|not specified [RCV000517270] |
Chr2:201744320 [GRCh38] Chr2:202609043 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*1249G>A |
single nucleotide variant |
ALS2-related disorder [RCV000294824]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000349057] |
Chr2:201700602 [GRCh38] Chr2:202565325 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1114-7A>G |
single nucleotide variant |
not specified [RCV000518093] |
Chr2:201757766 [GRCh38] Chr2:202622489 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser) |
single nucleotide variant |
ALS2-related disorder [RCV000338160]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000371841] |
Chr2:201761746 [GRCh38] Chr2:202626469 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4123-4T>C |
single nucleotide variant |
ALS2-related disorder [RCV000371766]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000286752] |
Chr2:201710042 [GRCh38] Chr2:202574765 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.-31T>A |
single nucleotide variant |
ALS2-related disorder [RCV000400039]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000340593] |
Chr2:201768916 [GRCh38] Chr2:202633639 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) |
single nucleotide variant |
ALS2-related disorder [RCV001139426]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139425]|Infantile-onset ascending hereditary spastic paralysis [RCV002556972] |
Chr2:201760950 [GRCh38] Chr2:202625673 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2845_2854dup (p.His952fs) |
duplication |
not provided [RCV000598800] |
Chr2:201727762..201727763 [GRCh38] Chr2:202592485..202592486 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2171-4A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000527503] |
Chr2:201741858 [GRCh38] Chr2:202606581 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser) |
single nucleotide variant |
ALS2-related disorder [RCV001139427]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140200]|Infantile-onset ascending hereditary spastic paralysis [RCV000640990] |
Chr2:201760957 [GRCh38] Chr2:202625680 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.576G>C (p.Pro192=) |
single nucleotide variant |
ALS2-related disorder [RCV004544854]|Infantile-onset ascending hereditary spastic paralysis [RCV000640996]|not provided [RCV001311978] |
Chr2:201761418 [GRCh38] Chr2:202626141 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) |
single nucleotide variant |
ALS2-related disorder [RCV001137294]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137295]|Hereditary spastic paraplegia [RCV001849016]|Infantile-onset ascending hereditary spastic paralysis [RCV001089250]|not specified [RCV001644727] |
Chr2:201761663 [GRCh38] Chr2:202626386 [GRCh37] Chr2:2q33.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001868005]|not provided [RCV000598924] |
Chr2:201761459 [GRCh38] Chr2:202626182 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) |
single nucleotide variant |
ALS2-related disorder [RCV001137183]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137182]|Infantile-onset ascending hereditary spastic paralysis [RCV000530345]|not provided [RCV004791548] |
Chr2:201757702 [GRCh38] Chr2:202622425 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1921C>T (p.Gln641Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000640989] |
Chr2:201746643 [GRCh38] Chr2:202611366 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2500A>C (p.Asn834His) |
single nucleotide variant |
not provided [RCV000415888] |
Chr2:201733356 [GRCh38] Chr2:202598079 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.281T>G (p.Ile94Ser) |
single nucleotide variant |
not provided [RCV000415903] |
Chr2:201761713 [GRCh38] Chr2:202626436 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001861458]|not provided [RCV000416251] |
Chr2:201706975 [GRCh38] Chr2:202571698 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2171-7G>A |
single nucleotide variant |
ALS2-related disorder [RCV004537973]|Infantile-onset ascending hereditary spastic paralysis [RCV000537607]|not provided [RCV003437257] |
Chr2:201741861 [GRCh38] Chr2:202606584 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001198494]|Hereditary spastic paraplegia [RCV001848736]|Infantile-onset ascending hereditary spastic paralysis [RCV001865302]|Peripheral axonal neuropathy [RCV000415216]|not provided [RCV004791442] |
Chr2:201711091 [GRCh38] Chr2:202575814 [GRCh37] Chr2:2q33.1 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_020919.4(ALS2):c.2833C>T (p.His945Tyr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000813724] |
Chr2:201728520 [GRCh38] Chr2:202593243 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4466T>C (p.Leu1489Pro) |
single nucleotide variant |
not provided [RCV000434514] |
Chr2:201706960 [GRCh38] Chr2:202571683 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.624T>G (p.Cys208Trp) |
single nucleotide variant |
not provided [RCV000418753] |
Chr2:201761370 [GRCh38] Chr2:202626093 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000735438]|Amyotrophic lateral sclerosis type 2, juvenile [RCV002481351]|Inborn genetic diseases [RCV000624087]|Infantile-onset ascending hereditary spastic paralysis [RCV001851103]|not provided [RCV000421128] |
Chr2:201724392 [GRCh38] Chr2:202589115 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.2581-1G>C |
single nucleotide variant |
not provided [RCV000426459] |
Chr2:201729184 [GRCh38] Chr2:202593907 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.2337G>C (p.Leu779Phe) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002524858]|not provided [RCV000420295] |
Chr2:201741688 [GRCh38] Chr2:202606411 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2638C>G (p.Leu880Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004639235]|not provided [RCV000427011] |
Chr2:201729126 [GRCh38] Chr2:202593849 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.368G>A (p.Cys123Tyr) |
single nucleotide variant |
not provided [RCV000430653] |
Chr2:201761626 [GRCh38] Chr2:202626349 [GRCh37] Chr2:2q33.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 |
copy number gain |
See cases [RCV000448271] |
Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
NM_020919.4(ALS2):c.4021C>T (p.Arg1341Cys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000456215] |
Chr2:201711092 [GRCh38] Chr2:202575815 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1816-1G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000457236] |
Chr2:201746749 [GRCh38] Chr2:202611472 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000515900]|Infantile-onset ascending hereditary spastic paralysis [RCV000466171]|not provided [RCV001653833] |
Chr2:201718167 [GRCh38] Chr2:202582890 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2222G>A (p.Arg741Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000460592] |
Chr2:201741803 [GRCh38] Chr2:202606526 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1977A>T (p.Pro659=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001444366] |
Chr2:201746587 [GRCh38] Chr2:202611310 [GRCh37] Chr2:2q33.1 |
likely benign |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848841]|Infantile-onset ascending hereditary spastic paralysis [RCV001087516]|not provided [RCV000469355] |
Chr2:201754565 [GRCh38] Chr2:202619288 [GRCh37] Chr2:2q33.1 |
benign|likely benign|uncertain significance |
NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002525622]|Infantile-onset ascending hereditary spastic paralysis [RCV000472844] |
Chr2:201725384 [GRCh38] Chr2:202590107 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) |
single nucleotide variant |
ALS2-related disorder [RCV001143531]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143532]|Hereditary spastic paraplegia [RCV001848840]|Infantile-onset ascending hereditary spastic paralysis [RCV000473535]|not provided [RCV001531945]|not specified [RCV001662448] |
Chr2:201718172 [GRCh38] Chr2:202582895 [GRCh37] Chr2:2q33.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020919.4(ALS2):c.735_738del (p.Glu246fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001386854]|not provided [RCV000486714] |
Chr2:201761256..201761259 [GRCh38] Chr2:202625979..202625982 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.4627-5T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000554259] |
Chr2:201705205 [GRCh38] Chr2:202569928 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003611517]|not provided [RCV000498320] |
Chr2:201715737 [GRCh38] Chr2:202580460 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848876]|Infantile-onset ascending hereditary spastic paralysis [RCV000820889]|not specified [RCV000505894] |
Chr2:201706931 [GRCh38] Chr2:202571654 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_020919.4(ALS2):c.2875C>A (p.Leu959Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000540876] |
Chr2:201727742 [GRCh38] Chr2:202592465 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3486A>C (p.Gly1162=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000640995] |
Chr2:201724321 [GRCh38] Chr2:202589044 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3309T>C (p.His1103=) |
single nucleotide variant |
ALS2-related disorder [RCV001136966]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139217]|Infantile-onset ascending hereditary spastic paralysis [RCV001086810]|not provided [RCV000555606] |
Chr2:201725394 [GRCh38] Chr2:202590117 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.1815+8T>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000560701] |
Chr2:201749704 [GRCh38] Chr2:202614427 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000640991] |
Chr2:201718128 [GRCh38] Chr2:202582851 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) |
single nucleotide variant |
ALS2-related disorder [RCV001141938]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141937]|Inborn genetic diseases [RCV003243183]|Infantile-onset ascending hereditary spastic paralysis [RCV000557506]|not provided [RCV001553526] |
Chr2:201753242 [GRCh38] Chr2:202617965 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.1659A>G (p.Val553=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000535803] |
Chr2:201753224 [GRCh38] Chr2:202617947 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) |
single nucleotide variant |
ALS2-related disorder [RCV001143530]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143529]|Infantile-onset ascending hereditary spastic paralysis [RCV000640987]|not provided [RCV002473084]|not specified [RCV002222571] |
Chr2:201715813 [GRCh38] Chr2:202580536 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000763471]|Infantile-onset ascending hereditary spastic paralysis [RCV000640988] |
Chr2:201757640 [GRCh38] Chr2:202622363 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.358G>T (p.Ala120Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002544659]|Infantile-onset ascending hereditary spastic paralysis [RCV000640992] |
Chr2:201761636 [GRCh38] Chr2:202626359 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000640993]|not provided [RCV001771870] |
Chr2:201754543 [GRCh38] Chr2:202619266 [GRCh37] Chr2:2q33.1 |
likely pathogenic|uncertain significance |
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) |
single nucleotide variant |
ALS2-related disorder [RCV001139218]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139219]|Infantile-onset ascending hereditary spastic paralysis [RCV000640994]|not provided [RCV001591429] |
Chr2:201726800 [GRCh38] Chr2:202591523 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2979+5G>A |
single nucleotide variant |
not provided [RCV000513372] |
Chr2:201727207 [GRCh38] Chr2:202591930 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3307C>A (p.His1103Asn) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000699894]|not specified [RCV004702344] |
Chr2:201725396 [GRCh38] Chr2:202590119 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4382G>T (p.Arg1461Leu) |
single nucleotide variant |
not specified [RCV000714649] |
Chr2:201707890 [GRCh38] Chr2:202572613 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4435C>T (p.Pro1479Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000701598] |
Chr2:201706991 [GRCh38] Chr2:202571714 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala) |
single nucleotide variant |
not provided [RCV000710521] |
Chr2:201744330 [GRCh38] Chr2:202609053 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile) |
single nucleotide variant |
not provided [RCV000710525] |
Chr2:201709990 [GRCh38] Chr2:202574713 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4403+4A>G |
single nucleotide variant |
not provided [RCV000710526] |
Chr2:201707865 [GRCh38] Chr2:202572588 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000764354]|Infantile-onset ascending hereditary spastic paralysis [RCV000704262] |
Chr2:201726712 [GRCh38] Chr2:202591435 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3183-3C>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000692381] |
Chr2:201726552 [GRCh38] Chr2:202591275 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4858G>A (p.Glu1620Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000692382] |
Chr2:201704199 [GRCh38] Chr2:202568922 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3449T>A (p.Met1150Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000701693] |
Chr2:201724358 [GRCh38] Chr2:202589081 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2979G>A (p.Lys993=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000701694] |
Chr2:201727212 [GRCh38] Chr2:202591935 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1998+6C>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000706874] |
Chr2:201746560 [GRCh38] Chr2:202611283 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3860_3865del (p.Val1287_Pro1288del) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000704618] |
Chr2:201715811..201715816 [GRCh38] Chr2:202580534..202580539 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002533654]|Infantile-onset ascending hereditary spastic paralysis [RCV000702466] |
Chr2:201727741 [GRCh38] Chr2:202592464 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4345G>A (p.Glu1449Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003163233]|Infantile-onset ascending hereditary spastic paralysis [RCV000699373] |
Chr2:201707927 [GRCh38] Chr2:202572650 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1472-188T>G |
single nucleotide variant |
not provided [RCV001575311] |
Chr2:201754859 [GRCh38] Chr2:202619582 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4141C>T (p.His1381Tyr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000817297] |
Chr2:201710020 [GRCh38] Chr2:202574743 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.175+239G>A |
single nucleotide variant |
not provided [RCV001567729] |
Chr2:201766990 [GRCh38] Chr2:202631713 [GRCh37] Chr2:2q33.1 |
likely benign |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_020919.4(ALS2):c.4688+208G>T |
single nucleotide variant |
not provided [RCV001611468] |
Chr2:201704931 [GRCh38] Chr2:202569654 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4123-152dup |
duplication |
not provided [RCV001680454] |
Chr2:201710183..201710184 [GRCh38] Chr2:202574906..202574907 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) |
single nucleotide variant |
ALS2-related disorder [RCV001143735]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143736]|Hereditary spastic paraplegia [RCV001849153]|Infantile-onset ascending hereditary spastic paralysis [RCV000862041]|not provided [RCV001672966] |
Chr2:201754516 [GRCh38] Chr2:202619239 [GRCh37] Chr2:2q33.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020919.4(ALS2):c.3858A>G (p.Ala1286=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001434901] |
Chr2:201715818 [GRCh38] Chr2:202580541 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4626+1G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV003128270]|not provided [RCV001543521] |
Chr2:201705415 [GRCh38] Chr2:202570138 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.4004+127A>G |
single nucleotide variant |
not provided [RCV001648636] |
Chr2:201715545 [GRCh38] Chr2:202580268 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3348-75A>G |
single nucleotide variant |
not provided [RCV001667912] |
Chr2:201724534 [GRCh38] Chr2:202589257 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3249-6T>G |
single nucleotide variant |
not provided [RCV000762310] |
Chr2:201725460 [GRCh38] Chr2:202590183 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2528G>T (p.Arg843Leu) |
single nucleotide variant |
not provided [RCV000762311] |
Chr2:201733328 [GRCh38] Chr2:202598051 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2171-181C>T |
single nucleotide variant |
not provided [RCV001550577] |
Chr2:201742035 [GRCh38] Chr2:202606758 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4005-311A>G |
single nucleotide variant |
not provided [RCV001551207] |
Chr2:201711419 [GRCh38] Chr2:202576142 [GRCh37] Chr2:2q33.1 |
likely benign |
Single allele |
duplication |
Neurodevelopmental disorder [RCV000787403] |
Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2 |
pathogenic |
NM_020919.4(ALS2):c.175+251T>C |
single nucleotide variant |
not provided [RCV001575801] |
Chr2:201766978 [GRCh38] Chr2:202631701 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2171-287C>T |
single nucleotide variant |
not provided [RCV001681319] |
Chr2:201742141 [GRCh38] Chr2:202606864 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.-60-318C>T |
single nucleotide variant |
not provided [RCV001648749] |
Chr2:201769263 [GRCh38] Chr2:202633986 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.366G>A (p.Gln122=) |
single nucleotide variant |
ALS2-related disorder [RCV001142056]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142055]|Hereditary spastic paraplegia [RCV001847066]|Infantile-onset ascending hereditary spastic paralysis [RCV000866239] |
Chr2:201761628 [GRCh38] Chr2:202626351 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.1164C>T (p.Ser388=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000867541]|not provided [RCV001585825] |
Chr2:201757709 [GRCh38] Chr2:202622432 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1887A>G (p.Glu629=) |
single nucleotide variant |
not provided [RCV000866474] |
Chr2:201746677 [GRCh38] Chr2:202611400 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4626+7T>C |
single nucleotide variant |
not provided [RCV000901009] |
Chr2:201705409 [GRCh38] Chr2:202570132 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4854C>T (p.Gly1618=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000868541] |
Chr2:201704203 [GRCh38] Chr2:202568926 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4773C>T (p.His1591=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000936790] |
Chr2:201704519 [GRCh38] Chr2:202569242 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2912+9G>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002539075] |
Chr2:201727696 [GRCh38] Chr2:202592419 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.879T>A (p.Thr293=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001412544] |
Chr2:201761115 [GRCh38] Chr2:202625838 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=) |
single nucleotide variant |
ALS2-related disorder [RCV001136959]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143536]|Infantile-onset ascending hereditary spastic paralysis [RCV000867659] |
Chr2:201724345 [GRCh38] Chr2:202589068 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.2616T>C (p.Ser872=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001467084] |
Chr2:201729148 [GRCh38] Chr2:202593871 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1674C>A (p.Gly558=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003502576] |
Chr2:201753209 [GRCh38] Chr2:202617932 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2193A>G (p.Thr731=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001454584] |
Chr2:201741832 [GRCh38] Chr2:202606555 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2028A>G (p.Gly676=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002539026] |
Chr2:201744400 [GRCh38] Chr2:202609123 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4733C>T (p.Thr1578Ile) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001062208] |
Chr2:201704559 [GRCh38] Chr2:202569282 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4763C>T (p.Ala1588Val) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001052966] |
Chr2:201704529 [GRCh38] Chr2:202569252 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2980A>C (p.Thr994Pro) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001043391] |
Chr2:201726866 [GRCh38] Chr2:202591589 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.725T>C (p.Met242Thr) |
single nucleotide variant |
ALS2-related disorder [RCV004536121]|Hereditary spastic paraplegia [RCV001847143]|Infantile-onset ascending hereditary spastic paralysis [RCV001061841]|not provided [RCV001585962] |
Chr2:201761269 [GRCh38] Chr2:202625992 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2171-62C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001548878]|Infantile-onset ascending hereditary spastic paralysis [RCV001548880]|Juvenile primary lateral sclerosis [RCV001548879]|not provided [RCV001655873] |
Chr2:201741916 [GRCh38] Chr2:202606639 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4640C>T (p.Thr1547Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001059532] |
Chr2:201705187 [GRCh38] Chr2:202569910 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4436C>G (p.Pro1479Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001052543] |
Chr2:201706990 [GRCh38] Chr2:202571713 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1439G>A (p.Arg480Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000814363] |
Chr2:201757434 [GRCh38] Chr2:202622157 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1479_1480insCGTGC (p.Leu495fs) |
insertion |
ALS2-related disorder [RCV000778585] |
Chr2:201754663..201754664 [GRCh38] Chr2:202619386..202619387 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3330C>T (p.Cys1110=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001486067] |
Chr2:201725373 [GRCh38] Chr2:202590096 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4914T>G (p.Gly1638=) |
single nucleotide variant |
not provided [RCV000923685] |
Chr2:201704143 [GRCh38] Chr2:202568866 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.528C>T (p.Thr176=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002064534] |
Chr2:201761466 [GRCh38] Chr2:202626189 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2979+8T>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847067]|Infantile-onset ascending hereditary spastic paralysis [RCV000866523] |
Chr2:201727204 [GRCh38] Chr2:202591927 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.396G>A (p.Pro132=) |
single nucleotide variant |
ALS2-related disorder [RCV001142051]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142052]|Inborn genetic diseases [RCV004639397]|Infantile-onset ascending hereditary spastic paralysis [RCV002539027] |
Chr2:201761598 [GRCh38] Chr2:202626321 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3018G>A (p.Gln1006=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001465405] |
Chr2:201726828 [GRCh38] Chr2:202591551 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000984509] |
Chr2:201760933..201760940 [GRCh38] Chr2:202625656..202625663 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.1054C>T (p.Leu352=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001453876] |
Chr2:201760940 [GRCh38] Chr2:202625663 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2856T>C (p.His952=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000873530]|not provided [RCV003438530] |
Chr2:201727761 [GRCh38] Chr2:202592484 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1640+10A>G |
single nucleotide variant |
ALS2-related disorder [RCV001143734]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141939]|not provided [RCV000920182] |
Chr2:201754493 [GRCh38] Chr2:202619216 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.218G>A (p.Gly73Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000798218] |
Chr2:201761776 [GRCh38] Chr2:202626499 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3622A>T (p.Met1208Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000807997] |
Chr2:201723332 [GRCh38] Chr2:202588055 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1325G>C (p.Gly442Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000811586] |
Chr2:201757548 [GRCh38] Chr2:202622271 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2566A>G (p.Thr856Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000808452] |
Chr2:201733290 [GRCh38] Chr2:202598013 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.628G>T (p.Ala210Ser) |
single nucleotide variant |
not provided [RCV000997647] |
Chr2:201761366 [GRCh38] Chr2:202626089 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2q33.1(chr2:202639314-202680220)x1 |
copy number loss |
not provided [RCV000846192] |
Chr2:202639314..202680220 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001375960]|Infantile-onset ascending hereditary spastic paralysis [RCV000800103]|not provided [RCV002051896] |
Chr2:201723434 [GRCh38] Chr2:202588157 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met) |
single nucleotide variant |
ALS2-related disorder [RCV001136863]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136862]|Infantile-onset ascending hereditary spastic paralysis [RCV000803341] |
Chr2:201707011 [GRCh38] Chr2:202571734 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.*1398C>A |
single nucleotide variant |
ALS2-related disorder [RCV001136647]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136648] |
Chr2:201700453 [GRCh38] Chr2:202565176 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4627G>T (p.Val1543Phe) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000793363] |
Chr2:201705200 [GRCh38] Chr2:202569923 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001095479]|Infantile-onset ascending hereditary spastic paralysis [RCV001391373] |
Chr2:201707891 [GRCh38] Chr2:202572614 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2089G>A (p.Glu697Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000818309] |
Chr2:201744339 [GRCh38] Chr2:202609062 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) |
single nucleotide variant |
ALS2-related disorder [RCV001136965]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136964]|Infantile-onset ascending hereditary spastic paralysis [RCV002070598]|not provided [RCV001760096] |
Chr2:201725358 [GRCh38] Chr2:202590081 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.*504G>A |
single nucleotide variant |
ALS2-related disorder [RCV001136753]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136752] |
Chr2:201701347 [GRCh38] Chr2:202566070 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*426T>A |
single nucleotide variant |
ALS2-related disorder [RCV001136755]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136754] |
Chr2:201701425 [GRCh38] Chr2:202566148 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001245925]|not provided [RCV000991511] |
Chr2:201757744 [GRCh38] Chr2:202622467 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1998+4A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000798363] |
Chr2:201746562 [GRCh38] Chr2:202611285 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys) |
single nucleotide variant |
ALS2-related disorder [RCV001136963]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136962]|Infantile-onset ascending hereditary spastic paralysis [RCV001856750] |
Chr2:201724413 [GRCh38] Chr2:202589136 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg) |
single nucleotide variant |
ALS2-related disorder [RCV001137066]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139310] |
Chr2:201733406 [GRCh38] Chr2:202598129 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1624G>A (p.Gly542Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000820021] |
Chr2:201754519 [GRCh38] Chr2:202619242 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.329G>T (p.Gly110Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004027594]|Infantile-onset ascending hereditary spastic paralysis [RCV000797362]|not specified [RCV003396390] |
Chr2:201761665 [GRCh38] Chr2:202626388 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4641G>A (p.Thr1547=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001461182]|not provided [RCV004721657] |
Chr2:201705186 [GRCh38] Chr2:202569909 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3809A>G (p.Glu1270Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001045715] |
Chr2:201718104 [GRCh38] Chr2:202582827 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1816-7G>A |
single nucleotide variant |
ALS2-related disorder [RCV001139314]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139313]|Infantile-onset ascending hereditary spastic paralysis [RCV002559343] |
Chr2:201746755 [GRCh38] Chr2:202611478 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34 |
pathogenic |
NM_020919.4(ALS2):c.2472C>T (p.Asp824=) |
single nucleotide variant |
ALS2-related disorder [RCV001137064]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137065] |
Chr2:201733384 [GRCh38] Chr2:202598107 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001858860]|not provided [RCV000997646] |
Chr2:201757722 [GRCh38] Chr2:202622445 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*1219C>G |
single nucleotide variant |
ALS2-related disorder [RCV001138894]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001138895] |
Chr2:201700632 [GRCh38] Chr2:202565355 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*302A>G |
single nucleotide variant |
ALS2-related disorder [RCV001138987]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001138988] |
Chr2:201701549 [GRCh38] Chr2:202566272 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3466G>C (p.Val1156Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001479936] |
Chr2:201724341 [GRCh38] Chr2:202589064 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000991371]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001030773]|Infantile-onset ascending hereditary spastic paralysis [RCV000995488] |
Chr2:201761393 [GRCh38] Chr2:202626116 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001039202]|not provided [RCV000991512] |
Chr2:201754585 [GRCh38] Chr2:202619308 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002549759]|not provided [RCV000991513] |
Chr2:201746604 [GRCh38] Chr2:202611327 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4818A>G (p.Leu1606=) |
single nucleotide variant |
not provided [RCV000991515] |
Chr2:201704474 [GRCh38] Chr2:202569197 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) |
microsatellite |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001250151] |
Chr2:201704537..201704538 [GRCh38] Chr2:202569260..202569261 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001242459]|not provided [RCV001729818] |
Chr2:201725372 [GRCh38] Chr2:202590095 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1964G>A (p.Gly655Asp) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001222683] |
Chr2:201746600 [GRCh38] Chr2:202611323 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter) |
single nucleotide variant |
Juvenile primary lateral sclerosis [RCV000995485] |
Chr2:201723371 [GRCh38] Chr2:202588094 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV000995487] |
Chr2:201761081 [GRCh38] Chr2:202625804 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1886A>G (p.Glu629Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001206576] |
Chr2:201746678 [GRCh38] Chr2:202611401 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002568563]|Infantile-onset ascending hereditary spastic paralysis [RCV001243074]|not provided [RCV001289225] |
Chr2:201729132 [GRCh38] Chr2:202593855 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4544_4547dup (p.Ile1517fs) |
duplication |
Infantile-onset ascending hereditary spastic paralysis [RCV001232129] |
Chr2:201706878..201706879 [GRCh38] Chr2:202571601..202571602 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.3440C>G (p.Ser1147Cys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001221691]|not provided [RCV003142176] |
Chr2:201724367 [GRCh38] Chr2:202589090 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003284109]|Infantile-onset ascending hereditary spastic paralysis [RCV001240971]|not provided [RCV001760268] |
Chr2:201749744 [GRCh38] Chr2:202614467 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.269G>A (p.Gly90Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001219528] |
Chr2:201761725 [GRCh38] Chr2:202626448 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002549760]|not provided [RCV000991514] |
Chr2:201726799 [GRCh38] Chr2:202591522 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1011A>G (p.Pro337=) |
single nucleotide variant |
ALS2-related disorder [RCV001140202]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140201] |
Chr2:201760983 [GRCh38] Chr2:202625706 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) |
single nucleotide variant |
ALS2-related disorder [RCV001140204]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140203]|Infantile-onset ascending hereditary spastic paralysis [RCV002559355]|not provided [RCV001579560] |
Chr2:201761108 [GRCh38] Chr2:202625831 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.-99C>T |
single nucleotide variant |
ALS2-related disorder [RCV001140305]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140304] |
Chr2:201780915 [GRCh38] Chr2:202645638 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*584G>A |
single nucleotide variant |
ALS2-related disorder [RCV001136750]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136751] |
Chr2:201701267 [GRCh38] Chr2:202565990 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1545A>C (p.Gly515=) |
single nucleotide variant |
ALS2-related disorder [RCV001143738]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143737] |
Chr2:201754598 [GRCh38] Chr2:202619321 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2802T>C (p.Asn934=) |
single nucleotide variant |
ALS2-related disorder [RCV001141834]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141835]|Infantile-onset ascending hereditary spastic paralysis [RCV003502590] |
Chr2:201728551 [GRCh38] Chr2:202593274 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2737C>T (p.Arg913Ter) |
single nucleotide variant |
not provided [RCV001090657] |
Chr2:201728616 [GRCh38] Chr2:202593339 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002554816]|not provided [RCV001090659] |
Chr2:201761681 [GRCh38] Chr2:202626404 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NC_000002.11:g.(?_201943606)_(204824322_?)dup |
duplication |
Autoimmune lymphoproliferative syndrome type 2B [RCV003105677]|Immunodeficiency, common variable, 1 [RCV003122553] |
Chr2:201943606..204824322 [GRCh37] Chr2:2q33.1-33.2 |
uncertain significance |
NM_020919.4(ALS2):c.142C>G (p.Leu48Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV003107983] |
Chr2:201767262 [GRCh38] Chr2:202631985 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.2580+63G>A |
single nucleotide variant |
not provided [RCV001571763] |
Chr2:201733213 [GRCh38] Chr2:202597936 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.146G>T (p.Gly49Val) |
single nucleotide variant |
not provided [RCV001663633] |
Chr2:201767258 [GRCh38] Chr2:202631981 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4627-69T>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001549124]|Infantile-onset ascending hereditary spastic paralysis [RCV001549126]|Juvenile primary lateral sclerosis [RCV001549125]|not provided [RCV001713030] |
Chr2:201705269 [GRCh38] Chr2:202569992 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4581-297G>A |
single nucleotide variant |
not provided [RCV001574308] |
Chr2:201705758 [GRCh38] Chr2:202570481 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1998+30A>G |
single nucleotide variant |
not provided [RCV001570461] |
Chr2:201746536 [GRCh38] Chr2:202611259 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3347+227dup |
duplication |
not provided [RCV001621276] |
Chr2:201725112..201725113 [GRCh38] Chr2:202589835..202589836 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.-60-70dup |
duplication |
not provided [RCV001610047] |
Chr2:201769002..201769003 [GRCh38] Chr2:202633725..202633726 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3512+233C>G |
single nucleotide variant |
not provided [RCV001549614] |
Chr2:201724062 [GRCh38] Chr2:202588785 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.-60-70_-60-69dup |
duplication |
not provided [RCV001554894] |
Chr2:201769002..201769003 [GRCh38] Chr2:202633725..202633726 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.176-239C>T |
single nucleotide variant |
not provided [RCV001560509] |
Chr2:201762057 [GRCh38] Chr2:202626780 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3347+287G>A |
single nucleotide variant |
not provided [RCV001652874] |
Chr2:201725069 [GRCh38] Chr2:202589792 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1999-171G>C |
single nucleotide variant |
not provided [RCV001560685] |
Chr2:201744600 [GRCh38] Chr2:202609323 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4581-313dup |
duplication |
not provided [RCV001725383] |
Chr2:201705765..201705766 [GRCh38] Chr2:202570488..202570489 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.21-208C>T |
single nucleotide variant |
not provided [RCV001560891] |
Chr2:201767591 [GRCh38] Chr2:202632314 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3702+183G>T |
single nucleotide variant |
not provided [RCV001654026] |
Chr2:201722860 [GRCh38] Chr2:202587583 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2713-198_2713-195del |
microsatellite |
not provided [RCV001608486] |
Chr2:201728835..201728838 [GRCh38] Chr2:202593558..202593561 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4005-127T>C |
single nucleotide variant |
not provided [RCV001572308] |
Chr2:201711235 [GRCh38] Chr2:202575958 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.21-189T>A |
single nucleotide variant |
not provided [RCV001561806] |
Chr2:201767572 [GRCh38] Chr2:202632295 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1815+216C>G |
single nucleotide variant |
not provided [RCV001669636] |
Chr2:201749496 [GRCh38] Chr2:202614219 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2841+261G>A |
single nucleotide variant |
not provided [RCV001696284] |
Chr2:201728251 [GRCh38] Chr2:202592974 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2841+253G>A |
single nucleotide variant |
not provided [RCV001688836] |
Chr2:201728259 [GRCh38] Chr2:202592982 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4936-233G>A |
single nucleotide variant |
not provided [RCV001557277] |
Chr2:201702122 [GRCh38] Chr2:202566845 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3981C>T (p.Thr1327=) |
single nucleotide variant |
not provided [RCV001663637] |
Chr2:201715695 [GRCh38] Chr2:202580418 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4936-152G>A |
single nucleotide variant |
not provided [RCV001614526] |
Chr2:201702041 [GRCh38] Chr2:202566764 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4404-183A>C |
single nucleotide variant |
not provided [RCV001552225] |
Chr2:201707205 [GRCh38] Chr2:202571928 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2580+208C>T |
single nucleotide variant |
not provided [RCV001552624] |
Chr2:201733068 [GRCh38] Chr2:202597791 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2913-8C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000868682] |
Chr2:201727286 [GRCh38] Chr2:202592009 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) |
single nucleotide variant |
ALS2-related disorder [RCV001143636]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143637]|Infantile-onset ascending hereditary spastic paralysis [RCV001460449] |
Chr2:201733315 [GRCh38] Chr2:202598038 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His) |
single nucleotide variant |
ALS2-related disorder [RCV001141707]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141706]|Infantile-onset ascending hereditary spastic paralysis [RCV000862275]|not provided [RCV004711313] |
Chr2:201715771 [GRCh38] Chr2:202580494 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3558G>A (p.Gly1186=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001425675] |
Chr2:201723396 [GRCh38] Chr2:202588119 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2403T>C (p.Leu801=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000952381] |
Chr2:201738684 [GRCh38] Chr2:202603407 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.861A>G (p.Glu287=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000862702] |
Chr2:201761133 [GRCh38] Chr2:202625856 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2912+8C>T |
single nucleotide variant |
ALS2-related disorder [RCV001141833]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141832]|Hereditary spastic paraplegia [RCV001847072]|Infantile-onset ascending hereditary spastic paralysis [RCV002538983] |
Chr2:201727697 [GRCh38] Chr2:202592420 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.4200C>T (p.Gly1400=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002547224] |
Chr2:201709961 [GRCh38] Chr2:202574684 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3078G>A (p.Gln1026=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000877226] |
Chr2:201726768 [GRCh38] Chr2:202591491 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn) |
single nucleotide variant |
ALS2-related disorder [RCV001139099]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139098]|Inborn genetic diseases [RCV003363119]|Infantile-onset ascending hereditary spastic paralysis [RCV001856786] |
Chr2:201715693 [GRCh38] Chr2:202580416 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr) |
single nucleotide variant |
ALS2-related disorder [RCV001139311]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139312]|Infantile-onset ascending hereditary spastic paralysis [RCV001856790] |
Chr2:201738725 [GRCh38] Chr2:202603448 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3956A>G (p.Asp1319Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001066043] |
Chr2:201715720 [GRCh38] Chr2:202580443 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1815+4_1815+15del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001227871] |
Chr2:201749697..201749708 [GRCh38] Chr2:202614420..202614431 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4145C>T (p.Pro1382Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004033667]|Infantile-onset ascending hereditary spastic paralysis [RCV001206296] |
Chr2:201710016 [GRCh38] Chr2:202574739 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV003106160]|Infantile-onset ascending hereditary spastic paralysis [RCV001234628] |
Chr2:201741804 [GRCh38] Chr2:202606527 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.1402G>A (p.Val468Met) |
single nucleotide variant |
ALS2-related disorder [RCV001143739]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143740] |
Chr2:201757471 [GRCh38] Chr2:202622194 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002500830]|Infantile-onset ascending hereditary spastic paralysis [RCV000986979] |
Chr2:201709900 [GRCh38] Chr2:202574623 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV000986980] |
Chr2:201746653 [GRCh38] Chr2:202611376 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.2443C>T (p.Leu815=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002065813] |
Chr2:201733413 [GRCh38] Chr2:202598136 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2088C>T (p.His696=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002071902]|not provided [RCV001531946] |
Chr2:201744340 [GRCh38] Chr2:202609063 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2979+102C>G |
single nucleotide variant |
not provided [RCV001577512] |
Chr2:201727110 [GRCh38] Chr2:202591833 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.-60-58del |
deletion |
not provided [RCV001575660] |
Chr2:201769003 [GRCh38] Chr2:202633726 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2841+136C>T |
single nucleotide variant |
not provided [RCV001575184] |
Chr2:201728376 [GRCh38] Chr2:202593099 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3703-2A>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003229781] |
Chr2:201718212 [GRCh38] Chr2:202582935 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.3348-290A>G |
single nucleotide variant |
not provided [RCV001552065] |
Chr2:201724749 [GRCh38] Chr2:202589472 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV000991370] |
Chr2:201744324 [GRCh38] Chr2:202609047 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.3702+107G>T |
single nucleotide variant |
not provided [RCV001558400] |
Chr2:201722936 [GRCh38] Chr2:202587659 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4005-111G>A |
single nucleotide variant |
not provided [RCV001619685] |
Chr2:201711219 [GRCh38] Chr2:202575942 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.21-246C>T |
single nucleotide variant |
not provided [RCV001558863] |
Chr2:201767629 [GRCh38] Chr2:202632352 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1640+154C>G |
single nucleotide variant |
not provided [RCV001559428] |
Chr2:201754349 [GRCh38] Chr2:202619072 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4935+281T>C |
single nucleotide variant |
not provided [RCV001669525] |
Chr2:201703841 [GRCh38] Chr2:202568564 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.175+123T>A |
single nucleotide variant |
not provided [RCV001549787] |
Chr2:201767106 [GRCh38] Chr2:202631829 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3702+113G>A |
single nucleotide variant |
not provided [RCV001678329] |
Chr2:201722930 [GRCh38] Chr2:202587653 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2713-2A>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002259431] |
Chr2:201728642 [GRCh38] Chr2:202593365 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.3249-293G>C |
single nucleotide variant |
not provided [RCV001556460] |
Chr2:201725747 [GRCh38] Chr2:202590470 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.346G>A (p.Gly116Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001263249] |
Chr2:201761648 [GRCh38] Chr2:202626371 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2581-274T>C |
single nucleotide variant |
not provided [RCV001615657] |
Chr2:201729457 [GRCh38] Chr2:202594180 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3702+180A>G |
single nucleotide variant |
not provided [RCV001615663] |
Chr2:201722863 [GRCh38] Chr2:202587586 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4281-196C>T |
single nucleotide variant |
not provided [RCV001722906] |
Chr2:201708187 [GRCh38] Chr2:202572910 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.21-294G>A |
single nucleotide variant |
not provided [RCV001660919] |
Chr2:201767677 [GRCh38] Chr2:202632400 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3722A>G (p.Asn1241Ser) |
single nucleotide variant |
not provided [RCV001579762] |
Chr2:201718191 [GRCh38] Chr2:202582914 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2980-26T>A |
single nucleotide variant |
not provided [RCV001652977] |
Chr2:201726892 [GRCh38] Chr2:202591615 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3347+248T>C |
single nucleotide variant |
not provided [RCV001617170] |
Chr2:201725108 [GRCh38] Chr2:202589831 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003771828]|not provided [RCV001663635] |
Chr2:201725388 [GRCh38] Chr2:202590111 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2979+155dup |
duplication |
not provided [RCV001636108] |
Chr2:201727046..201727047 [GRCh38] Chr2:202591769..202591770 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2842-20C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002488436]|Infantile-onset ascending hereditary spastic paralysis [RCV002070458]|not provided [RCV001590574] |
Chr2:201727795 [GRCh38] Chr2:202592518 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.4005-134G>T |
single nucleotide variant |
not provided [RCV001596013] |
Chr2:201711242 [GRCh38] Chr2:202575965 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3703-135G>A |
single nucleotide variant |
not provided [RCV001596071] |
Chr2:201718345 [GRCh38] Chr2:202583068 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2913-30_2913-26del |
deletion |
not provided [RCV001658461] |
Chr2:201727304..201727308 [GRCh38] Chr2:202592027..202592031 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2581-133T>C |
single nucleotide variant |
not provided [RCV001673384] |
Chr2:201729316 [GRCh38] Chr2:202594039 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1113+202T>G |
single nucleotide variant |
not provided [RCV001635754] |
Chr2:201760679 [GRCh38] Chr2:202625402 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1685T>C (p.Ile562Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001866245]|not provided [RCV001596470] |
Chr2:201753198 [GRCh38] Chr2:202617921 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) |
single nucleotide variant |
ALS2-related disorder [RCV001141602]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141603]|Infantile-onset ascending hereditary spastic paralysis [RCV001208992]|not provided [RCV002509617] |
Chr2:201701868 [GRCh38] Chr2:202566591 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2580+15A>G |
single nucleotide variant |
ALS2-related disorder [RCV001143634]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143635] |
Chr2:201733261 [GRCh38] Chr2:202597984 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*586G>A |
single nucleotide variant |
ALS2-related disorder [RCV001143325]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143326] |
Chr2:201701265 [GRCh38] Chr2:202565988 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4627-4G>A |
single nucleotide variant |
ALS2-related disorder [RCV001143424]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143425]|Infantile-onset ascending hereditary spastic paralysis [RCV002557055] |
Chr2:201705204 [GRCh38] Chr2:202569927 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=) |
single nucleotide variant |
ALS2-related disorder [RCV001143426]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143427]|Infantile-onset ascending hereditary spastic paralysis [RCV002070726] |
Chr2:201706860 [GRCh38] Chr2:202571583 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.508G>A (p.Glu170Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001049451]|not provided [RCV004792669] |
Chr2:201761486 [GRCh38] Chr2:202626209 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val) |
single nucleotide variant |
ALS2-related disorder [RCV001143533]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143534]|Inborn genetic diseases [RCV003163319]|Infantile-onset ascending hereditary spastic paralysis [RCV001858942] |
Chr2:201723087 [GRCh38] Chr2:202587810 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*1501A>G |
single nucleotide variant |
ALS2-related disorder [RCV001136646]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136645] |
Chr2:201700350 [GRCh38] Chr2:202565073 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001089473] |
Chr2:201726685 [GRCh38] Chr2:202591408 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.275_276del (p.Tyr92fs) |
microsatellite |
Juvenile primary lateral sclerosis [RCV001089475] |
Chr2:201761718..201761719 [GRCh38] Chr2:202626441..202626442 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.*1079A>G |
single nucleotide variant |
ALS2-related disorder [RCV001141487]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141488] |
Chr2:201700772 [GRCh38] Chr2:202565495 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr) |
single nucleotide variant |
ALS2-related disorder [RCV001141936]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141935] |
Chr2:201749744 [GRCh38] Chr2:202614467 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3348-313A>G |
single nucleotide variant |
not provided [RCV001724480] |
Chr2:201724772 [GRCh38] Chr2:202589495 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.*1093C>T |
single nucleotide variant |
ALS2-related disorder [RCV001138896]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001138897] |
Chr2:201700758 [GRCh38] Chr2:202565481 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4581-71C>T |
single nucleotide variant |
not provided [RCV001588701] |
Chr2:201705532 [GRCh38] Chr2:202570255 [GRCh37] Chr2:2q33.1 |
likely benign |
Single allele |
deletion |
Pulmonary arterial hypertension [RCV001004033] |
Chr2:201106432..204901548 [GRCh37] Chr2:2q33.1-33.3 |
pathogenic |
NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe) |
single nucleotide variant |
ALS2-related disorder [RCV001139222]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141831] |
Chr2:201727238 [GRCh38] Chr2:202591961 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2417+246T>C |
single nucleotide variant |
not provided [RCV001644436] |
Chr2:201738424 [GRCh38] Chr2:202603147 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4004+67A>C |
single nucleotide variant |
not provided [RCV001587685] |
Chr2:201715605 [GRCh38] Chr2:202580328 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2713-96T>C |
single nucleotide variant |
not provided [RCV001667610] |
Chr2:201728736 [GRCh38] Chr2:202593459 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3702+51dup |
duplication |
not provided [RCV001714651] |
Chr2:201722983..201722984 [GRCh38] Chr2:202587706..202587707 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4403+255C>T |
single nucleotide variant |
not provided [RCV001614341] |
Chr2:201707614 [GRCh38] Chr2:202572337 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2351+204G>A |
single nucleotide variant |
not provided [RCV001690228] |
Chr2:201741470 [GRCh38] Chr2:202606193 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2913-58C>T |
single nucleotide variant |
not provided [RCV001681060] |
Chr2:201727336 [GRCh38] Chr2:202592059 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001095477]|Infantile-onset ascending hereditary spastic paralysis [RCV001089471] |
Chr2:201753165 [GRCh38] Chr2:202617888 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001089472] |
Chr2:201760950 [GRCh38] Chr2:202625673 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.4935+226C>T |
single nucleotide variant |
not provided [RCV001584859] |
Chr2:201703896 [GRCh38] Chr2:202568619 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4281-326G>C |
single nucleotide variant |
not provided [RCV001709847] |
Chr2:201708317 [GRCh38] Chr2:202573040 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3513-166A>G |
single nucleotide variant |
not provided [RCV001679010] |
Chr2:201723607 [GRCh38] Chr2:202588330 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1998+194A>G |
single nucleotide variant |
not provided [RCV001692666] |
Chr2:201746372 [GRCh38] Chr2:202611095 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1999-213C>T |
single nucleotide variant |
not provided [RCV001616508] |
Chr2:201744642 [GRCh38] Chr2:202609365 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2919C>G (p.Gly973=) |
single nucleotide variant |
not provided [RCV001663634] |
Chr2:201727272 [GRCh38] Chr2:202591995 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.176-84T>G |
single nucleotide variant |
not provided [RCV001679359] |
Chr2:201761902 [GRCh38] Chr2:202626625 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2913-202A>G |
single nucleotide variant |
not provided [RCV001584003] |
Chr2:201727480 [GRCh38] Chr2:202592203 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2016_2026del (p.Val673fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001217451] |
Chr2:201744402..201744412 [GRCh38] Chr2:202609125..202609135 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.*1328G>T |
single nucleotide variant |
ALS2-related disorder [RCV001136650]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136649] |
Chr2:201700523 [GRCh38] Chr2:202565246 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*1259A>G |
single nucleotide variant |
ALS2-related disorder [RCV001136652]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136651] |
Chr2:201700592 [GRCh38] Chr2:202565315 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3721A>C (p.Asn1241His) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001201853] |
Chr2:201718192 [GRCh38] Chr2:202582915 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2961A>G (p.Ser987=) |
single nucleotide variant |
ALS2-related disorder [RCV001139221]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139220] |
Chr2:201727230 [GRCh38] Chr2:202591953 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1325G>T (p.Gly442Val) |
single nucleotide variant |
ALS2-related disorder [RCV001143741]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137181] |
Chr2:201757548 [GRCh38] Chr2:202622271 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln) |
single nucleotide variant |
ALS2-related disorder [RCV001137063]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143638]|Inborn genetic diseases [RCV002556912]|Infantile-onset ascending hereditary spastic paralysis [RCV002558301] |
Chr2:201733328 [GRCh38] Chr2:202598051 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.339C>T (p.Tyr113=) |
single nucleotide variant |
ALS2-related disorder [RCV001137293]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142057]|Infantile-onset ascending hereditary spastic paralysis [RCV001444397] |
Chr2:201761655 [GRCh38] Chr2:202626378 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002554409]|Infantile-onset ascending hereditary spastic paralysis [RCV001058481] |
Chr2:201726784 [GRCh38] Chr2:202591507 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*843G>A |
single nucleotide variant |
ALS2-related disorder [RCV001143321]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143322] |
Chr2:201701008 [GRCh38] Chr2:202565731 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2430T>G (p.Asn810Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001218139] |
Chr2:201733426 [GRCh38] Chr2:202598149 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1472-10T>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001215400] |
Chr2:201754681 [GRCh38] Chr2:202619404 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.4838+1del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001218439] |
Chr2:201704453 [GRCh38] Chr2:202569176 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.1960A>G (p.Ser654Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001233911] |
Chr2:201746604 [GRCh38] Chr2:202611327 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3442C>T (p.Pro1148Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004030744]|Infantile-onset ascending hereditary spastic paralysis [RCV001070332] |
Chr2:201724365 [GRCh38] Chr2:202589088 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1016A>G (p.Tyr339Cys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001070387] |
Chr2:201760978 [GRCh38] Chr2:202625701 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.154C>T (p.His52Tyr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001202441] |
Chr2:201767250 [GRCh38] Chr2:202631973 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2849C>T (p.Thr950Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001216844] |
Chr2:201727768 [GRCh38] Chr2:202592491 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.367T>C (p.Cys123Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001064572]|Juvenile primary lateral sclerosis [RCV001331156] |
Chr2:201761627 [GRCh38] Chr2:202626350 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1471+1G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001089476] |
Chr2:201757401 [GRCh38] Chr2:202622124 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.4837A>T (p.Arg1613Trp) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001064769] |
Chr2:201704455 [GRCh38] Chr2:202569178 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu) |
single nucleotide variant |
ALS2-related disorder [RCV001142053]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001142054]|Infantile-onset ascending hereditary spastic paralysis [RCV001246012] |
Chr2:201761599 [GRCh38] Chr2:202626322 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.88A>G (p.Ile30Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002551481]|Infantile-onset ascending hereditary spastic paralysis [RCV001040936]|not provided [RCV001311979] |
Chr2:201767316 [GRCh38] Chr2:202632039 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) |
single nucleotide variant |
ALS2-related disorder [RCV001136960]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001136961]|Infantile-onset ascending hereditary spastic paralysis [RCV001367326]|not provided [RCV002473205] |
Chr2:201724391 [GRCh38] Chr2:202589114 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3547G>A (p.Val1183Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001055843] |
Chr2:201723407 [GRCh38] Chr2:202588130 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NC_000002.12:g.201705201del |
deletion |
Global developmental delay [RCV001003959] |
Chr2:201705200 [GRCh38] Chr2:202569923 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.*1533C>T |
single nucleotide variant |
ALS2-related disorder [RCV001143215]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143216] |
Chr2:201700318 [GRCh38] Chr2:202565041 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.*764A>G |
single nucleotide variant |
ALS2-related disorder [RCV001143323]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143324] |
Chr2:201701087 [GRCh38] Chr2:202565810 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001095480] |
Chr2:201704484 [GRCh38] Chr2:202569207 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.3280A>G (p.Met1094Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002563165]|Infantile-onset ascending hereditary spastic paralysis [RCV001229607] |
Chr2:201725423 [GRCh38] Chr2:202590146 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4871T>C (p.Ile1624Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001862739]|Microcephaly [RCV001252923] |
Chr2:201704186 [GRCh38] Chr2:202568909 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2q33.1(chr2:202460698-202566764)x3 |
copy number gain |
not provided [RCV001258572] |
Chr2:202460698..202566764 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser) |
single nucleotide variant |
not provided [RCV001663632] |
Chr2:201757695 [GRCh38] Chr2:202622418 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3849A>C (p.Gly1283=) |
single nucleotide variant |
not provided [RCV001663636] |
Chr2:201715827 [GRCh38] Chr2:202580550 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1 |
copy number loss |
not provided [RCV001258573] |
Chr2:202011822..202749788 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001313031] |
Chr2:201729158 [GRCh38] Chr2:202593881 [GRCh37] Chr2:2q33.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
NM_020919.4(ALS2):c.1652T>A (p.Leu551Ter) |
single nucleotide variant |
not provided [RCV001268510] |
Chr2:201753231 [GRCh38] Chr2:202617954 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.461A>G (p.Gln154Arg) |
single nucleotide variant |
not provided [RCV001287972] |
Chr2:201761533 [GRCh38] Chr2:202626256 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) |
copy number loss |
Chromosome 2q32-q33 deletion syndrome [RCV002280608] |
Chr2:185697659..213002074 [GRCh37] Chr2:2q32.1-34 |
pathogenic |
NM_020919.4(ALS2):c.2855A>G (p.His952Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001315964] |
Chr2:201727762 [GRCh38] Chr2:202592485 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.37G>A (p.Gly13Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001307090] |
Chr2:201767367 [GRCh38] Chr2:202632090 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1502G>A (p.Arg501Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001319335] |
Chr2:201754641 [GRCh38] Chr2:202619364 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3113dup (p.Tyr1039fs) |
duplication |
Amyotrophic lateral sclerosis type 2 [RCV001335999] |
Chr2:201726732..201726733 [GRCh38] Chr2:202591455..202591456 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.4333C>G (p.Pro1445Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004035868]|Infantile-onset ascending hereditary spastic paralysis [RCV001338661] |
Chr2:201707939 [GRCh38] Chr2:202572662 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.45G>C (p.Lys15Asn) |
single nucleotide variant |
not provided [RCV001663638] |
Chr2:201767359 [GRCh38] Chr2:202632082 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1738-120A>C |
single nucleotide variant |
not provided [RCV001537097] |
Chr2:201749909 [GRCh38] Chr2:202614632 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4909C>T (p.Gln1637Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001352403] |
Chr2:201704148 [GRCh38] Chr2:202568871 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3872A>G (p.Glu1291Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001374257] |
Chr2:201715804 [GRCh38] Chr2:202580527 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.4146C>G (p.Pro1382=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001396547] |
Chr2:201710015 [GRCh38] Chr2:202574738 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3273C>T (p.Asn1091=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001392208] |
Chr2:201725430 [GRCh38] Chr2:202590153 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1737+3A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001337160] |
Chr2:201753143 [GRCh38] Chr2:202617866 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1816A>T (p.Ile606Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001304408] |
Chr2:201746748 [GRCh38] Chr2:202611471 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4861G>A (p.Val1621Ile) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001359223]|not provided [RCV004793458] |
Chr2:201704196 [GRCh38] Chr2:202568919 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001391371] |
Chr2:201726511 [GRCh38] Chr2:202591234 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.3513-1G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001391372] |
Chr2:201723442 [GRCh38] Chr2:202588165 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly) |
single nucleotide variant |
not provided [RCV001289223] |
Chr2:201741699 [GRCh38] Chr2:202606422 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4022G>T (p.Arg1341Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001349548] |
Chr2:201711091 [GRCh38] Chr2:202575814 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.602G>A (p.Arg201Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001361252] |
Chr2:201761392 [GRCh38] Chr2:202626115 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.469T>G (p.Cys157Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001347186] |
Chr2:201761525 [GRCh38] Chr2:202626248 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4177G>A (p.Val1393Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001322185] |
Chr2:201709984 [GRCh38] Chr2:202574707 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3616A>G (p.Lys1206Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001319256] |
Chr2:201723338 [GRCh38] Chr2:202588061 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1988C>T (p.Ser663Phe) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001361989] |
Chr2:201746576 [GRCh38] Chr2:202611299 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3594C>T (p.Tyr1198=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002543585]|not provided [RCV001311977] |
Chr2:201723360 [GRCh38] Chr2:202588083 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4478A>C (p.Tyr1493Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001319743] |
Chr2:201706948 [GRCh38] Chr2:202571671 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.326del (p.Asn109fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001391369] |
Chr2:201761668 [GRCh38] Chr2:202626391 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1009C>T (p.Pro337Ser) |
single nucleotide variant |
not provided [RCV001354488] |
Chr2:201760985 [GRCh38] Chr2:202625708 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.474C>T (p.Gly158=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001296339]|not provided [RCV001597266] |
Chr2:201761520 [GRCh38] Chr2:202626243 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001391370] |
Chr2:201761419 [GRCh38] Chr2:202626142 [GRCh37] Chr2:2q33.1 |
pathogenic|conflicting interpretations of pathogenicity |
NM_020919.4(ALS2):c.956C>T (p.Ser319Phe) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001359220] |
Chr2:201761038 [GRCh38] Chr2:202625761 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001391374] |
Chr2:201704460 [GRCh38] Chr2:202569183 [GRCh37] Chr2:2q33.1 |
pathogenic|conflicting interpretations of pathogenicity |
NM_020919.4(ALS2):c.2487G>A (p.Leu829=) |
single nucleotide variant |
Juvenile primary lateral sclerosis [RCV001331155] |
Chr2:201733369 [GRCh38] Chr2:202598092 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2913-13G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001473272] |
Chr2:201727291 [GRCh38] Chr2:202592014 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2842-9C>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001441101] |
Chr2:201727784 [GRCh38] Chr2:202592507 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4107G>A (p.Arg1369=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001451521]|not provided [RCV004809612] |
Chr2:201711006 [GRCh38] Chr2:202575729 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.1816-10G>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001517976]|not provided [RCV001551059]|not specified [RCV001658210] |
Chr2:201746758 [GRCh38] Chr2:202611481 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.2004A>G (p.Gly668=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001504438] |
Chr2:201744424 [GRCh38] Chr2:202609147 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2979+8del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001393119] |
Chr2:201727204 [GRCh38] Chr2:202591927 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2745G>A (p.Leu915=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001493392] |
Chr2:201728608 [GRCh38] Chr2:202593331 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3624+1G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV003106223]|Infantile-onset ascending hereditary spastic paralysis [RCV001377565] |
Chr2:201723329 [GRCh38] Chr2:202588052 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847264]|Infantile-onset ascending hereditary spastic paralysis [RCV001409881] |
Chr2:201709967 [GRCh38] Chr2:202574690 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.4164G>A (p.Glu1388=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001400075] |
Chr2:201709997 [GRCh38] Chr2:202574720 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4365T>G (p.Thr1455=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001428198] |
Chr2:201707907 [GRCh38] Chr2:202572630 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1782C>T (p.Ser594=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001436239] |
Chr2:201749745 [GRCh38] Chr2:202614468 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3248+1G>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001379324] |
Chr2:201726483 [GRCh38] Chr2:202591206 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.2842-2A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001379573] |
Chr2:201727777 [GRCh38] Chr2:202592500 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.2595T>C (p.Tyr865=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001408731] |
Chr2:201729169 [GRCh38] Chr2:202593892 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4936-120G>T |
single nucleotide variant |
not provided [RCV001535200] |
Chr2:201702009 [GRCh38] Chr2:202566732 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3348-1G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001379989] |
Chr2:201724460 [GRCh38] Chr2:202589183 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.4005-75G>A |
single nucleotide variant |
not provided [RCV001565024] |
Chr2:201711183 [GRCh38] Chr2:202575906 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3447T>C (p.Ser1149=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001442904] |
Chr2:201724360 [GRCh38] Chr2:202589083 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2417+10C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001432228] |
Chr2:201738660 [GRCh38] Chr2:202603383 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2913-7G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001406796] |
Chr2:201727285 [GRCh38] Chr2:202592008 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3347+8T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001482512] |
Chr2:201725348 [GRCh38] Chr2:202590071 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1998+305A>G |
single nucleotide variant |
not provided [RCV001681782] |
Chr2:201746261 [GRCh38] Chr2:202610984 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2350G>A (p.Glu784Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001457686] |
Chr2:201741675 [GRCh38] Chr2:202606398 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4403+246A>G |
single nucleotide variant |
not provided [RCV001667054] |
Chr2:201707623 [GRCh38] Chr2:202572346 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2581-291T>C |
single nucleotide variant |
not provided [RCV001680015] |
Chr2:201729474 [GRCh38] Chr2:202594197 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4005-76T>C |
single nucleotide variant |
not provided [RCV001717220] |
Chr2:201711184 [GRCh38] Chr2:202575907 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4936-129A>G |
single nucleotide variant |
not provided [RCV001717224] |
Chr2:201702018 [GRCh38] Chr2:202566741 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2912+9G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001470072] |
Chr2:201727696 [GRCh38] Chr2:202592419 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.21-205G>A |
single nucleotide variant |
not provided [RCV001687685] |
Chr2:201767588 [GRCh38] Chr2:202632311 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4281-211G>A |
single nucleotide variant |
not provided [RCV001715824] |
Chr2:201708202 [GRCh38] Chr2:202572925 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4281-92G>C |
single nucleotide variant |
not provided [RCV001714461] |
Chr2:201708083 [GRCh38] Chr2:202572806 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4368G>A (p.Gly1456=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001477717] |
Chr2:201707904 [GRCh38] Chr2:202572627 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2170+104G>T |
single nucleotide variant |
not provided [RCV001708820] |
Chr2:201744154 [GRCh38] Chr2:202608877 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3513-86G>A |
single nucleotide variant |
not provided [RCV001619164] |
Chr2:201723527 [GRCh38] Chr2:202588250 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.267T>C (p.Val89=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001415726] |
Chr2:201761727 [GRCh38] Chr2:202626450 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1728G>T (p.Ala576=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001419806] |
Chr2:201753155 [GRCh38] Chr2:202617878 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2520A>C (p.Pro840=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001418276] |
Chr2:201733336 [GRCh38] Chr2:202598059 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4004+1G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001379780] |
Chr2:201715671 [GRCh38] Chr2:202580394 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.4764G>C (p.Ala1588=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001489572] |
Chr2:201704528 [GRCh38] Chr2:202569251 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4626+10A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001450586] |
Chr2:201705406 [GRCh38] Chr2:202570129 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4567C>T (p.Leu1523Phe) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003108836] |
Chr2:201706859 [GRCh38] Chr2:202571582 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002259411]|Juvenile amyotrophic lateral sclerosis [RCV002227850] |
Chr2:201709891 [GRCh38] Chr2:202574614 [GRCh37] Chr2:2q33.1 |
pathogenic |
NC_000002.11:g.(?_202501451)_(202633608_?)del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV003105409]|Joubert syndrome 14 [RCV003122416] |
Chr2:202501451..202633608 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2580+2T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV003225989]|Infantile-onset ascending hereditary spastic paralysis [RCV002259429] |
Chr2:201733274 [GRCh38] Chr2:202597997 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.326A>G (p.Asn109Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004641678]|Infantile-onset ascending hereditary spastic paralysis [RCV002032704]|not provided [RCV001730191] |
Chr2:201761668 [GRCh38] Chr2:202626391 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.-60-2A>G |
single nucleotide variant |
not provided [RCV001730210] |
Chr2:201768947 [GRCh38] Chr2:202633670 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.3513-2del |
deletion |
not provided [RCV001783465] |
Chr2:201723443 [GRCh38] Chr2:202588166 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2417+1G>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002259430] |
Chr2:201738669 [GRCh38] Chr2:202603392 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.3958A>G (p.Asn1320Asp) |
single nucleotide variant |
not specified [RCV002259434] |
Chr2:201715718 [GRCh38] Chr2:202580441 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3517delG |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV002259433] |
Chr2:201723437 [GRCh38] Chr2:202588160 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1964G>C (p.Gly655Ala) |
single nucleotide variant |
not provided [RCV001772647] |
Chr2:201746600 [GRCh38] Chr2:202611323 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4303G>A (p.Glu1435Lys) |
single nucleotide variant |
not provided [RCV001774124] |
Chr2:201707969 [GRCh38] Chr2:202572692 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2423T>G (p.Phe808Cys) |
single nucleotide variant |
not provided [RCV001765790] |
Chr2:201733433 [GRCh38] Chr2:202598156 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4228G>C (p.Glu1410Gln) |
single nucleotide variant |
not provided [RCV001765791] |
Chr2:201709933 [GRCh38] Chr2:202574656 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.878C>G (p.Thr293Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003264082]|not provided [RCV001756935] |
Chr2:201761116 [GRCh38] Chr2:202625839 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4642A>G (p.Lys1548Glu) |
single nucleotide variant |
not provided [RCV001758830] |
Chr2:201705185 [GRCh38] Chr2:202569908 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3223A>G (p.Met1075Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002542360]|Infantile-onset ascending hereditary spastic paralysis [RCV001885254]|not provided [RCV001806655] |
Chr2:201726509 [GRCh38] Chr2:202591232 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4069G>A (p.Val1357Ile) |
single nucleotide variant |
ALS2-related disorder [RCV004734274]|not provided [RCV001797211] |
Chr2:201711044 [GRCh38] Chr2:202575767 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1156A>G (p.Thr386Ala) |
single nucleotide variant |
not provided [RCV001760591] |
Chr2:201757717 [GRCh38] Chr2:202622440 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.691C>T (p.Arg231Ter) |
single nucleotide variant |
Abnormal central motor function [RCV001814425] |
Chr2:201761303 [GRCh38] Chr2:202626026 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.1640+1G>A |
single nucleotide variant |
Abnormal central motor function [RCV001814407]|Infantile-onset ascending hereditary spastic paralysis [RCV002471117]|not provided [RCV002292646] |
Chr2:201754502 [GRCh38] Chr2:202619225 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV001824228] |
Chr2:201753234 [GRCh38] Chr2:202617957 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.2651G>A (p.Arg884Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002008739] |
Chr2:201729113 [GRCh38] Chr2:202593836 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1139A>C (p.Asn380Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001926911] |
Chr2:201757734 [GRCh38] Chr2:202622457 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2386G>C (p.Gly796Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001874868] |
Chr2:201738701 [GRCh38] Chr2:202603424 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2639T>C (p.Leu880Pro) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002045698] |
Chr2:201729125 [GRCh38] Chr2:202593848 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.215G>A (p.Ser72Asn) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001950682] |
Chr2:201761779 [GRCh38] Chr2:202626502 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3085C>T (p.Pro1029Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001950588] |
Chr2:201726761 [GRCh38] Chr2:202591484 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3395G>A (p.Arg1132His) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001912781] |
Chr2:201724412 [GRCh38] Chr2:202589135 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1008A>G (p.Ile336Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002548697]|Infantile-onset ascending hereditary spastic paralysis [RCV001872092] |
Chr2:201760986 [GRCh38] Chr2:202625709 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3624+3G>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001949099] |
Chr2:201723327 [GRCh38] Chr2:202588050 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4910A>G (p.Gln1637Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002044987] |
Chr2:201704147 [GRCh38] Chr2:202568870 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2072A>C (p.Tyr691Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001895313] |
Chr2:201744356 [GRCh38] Chr2:202609079 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4195G>A (p.Val1399Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001890474]|not provided [RCV004793567] |
Chr2:201709966 [GRCh38] Chr2:202574689 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848506]|Infantile-onset ascending hereditary spastic paralysis [RCV002543408] |
Chr2:201704472 [GRCh38] Chr2:202569195 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1403T>C (p.Val468Ala) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848413] |
Chr2:201757470 [GRCh38] Chr2:202622193 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.155A>G (p.His52Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848420] |
Chr2:201767249 [GRCh38] Chr2:202631972 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NC_000002.11:g.(?_202566574)_(203424669_?)del |
deletion |
Primary pulmonary hypertension [RCV001946571] |
Chr2:202566574..203424669 [GRCh37] Chr2:2q33.1-33.2 |
pathogenic |
NM_020919.4(ALS2):c.3617A>C (p.Lys1206Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001969723] |
Chr2:201723337 [GRCh38] Chr2:202588060 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848521]|Infantile-onset ascending hereditary spastic paralysis [RCV002034765] |
Chr2:201761141 [GRCh38] Chr2:202625864 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4214G>A (p.Arg1405His) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001911441] |
Chr2:201709947 [GRCh38] Chr2:202574670 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848394]|Infantile-onset ascending hereditary spastic paralysis [RCV002034756]|not provided [RCV003438880] |
Chr2:201760946 [GRCh38] Chr2:202625669 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) |
copy number gain |
not specified [RCV002053265] |
Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
NM_020919.4(ALS2):c.2479A>G (p.Thr827Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002020613] |
Chr2:201733377 [GRCh38] Chr2:202598100 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1483C>G (p.Leu495Val) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001871145] |
Chr2:201754660 [GRCh38] Chr2:202619383 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4382G>A (p.Arg1461Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001893196]|not provided [RCV003136264] |
Chr2:201707890 [GRCh38] Chr2:202572613 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.77G>C (p.Gly26Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002002774] |
Chr2:201767327 [GRCh38] Chr2:202632050 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.62A>G (p.His21Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002022630] |
Chr2:201767342 [GRCh38] Chr2:202632065 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.256A>G (p.Asn86Asp) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002039509] |
Chr2:201761738 [GRCh38] Chr2:202626461 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2282A>G (p.His761Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848444]|Infantile-onset ascending hereditary spastic paralysis [RCV002034761] |
Chr2:201741743 [GRCh38] Chr2:202606466 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3047C>G (p.Pro1016Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001872892] |
Chr2:201726799 [GRCh38] Chr2:202591522 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.499A>G (p.Ile167Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004044177]|Infantile-onset ascending hereditary spastic paralysis [RCV001926384] |
Chr2:201761495 [GRCh38] Chr2:202626218 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3904C>T (p.Arg1302Cys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002005791] |
Chr2:201715772 [GRCh38] Chr2:202580495 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2779C>A (p.His927Asn) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001892983] |
Chr2:201728574 [GRCh38] Chr2:202593297 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del) |
deletion |
Hereditary spastic paraplegia [RCV001848403] |
Chr2:201757723..201757728 [GRCh38] Chr2:202622446..202622451 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1359G>C (p.Gln453His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848407] |
Chr2:201757514 [GRCh38] Chr2:202622237 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3381T>A (p.Phe1127Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001895364] |
Chr2:201724426 [GRCh38] Chr2:202589149 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2583A>G (p.Ala861=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848452]|Infantile-onset ascending hereditary spastic paralysis [RCV003611563] |
Chr2:201729181 [GRCh38] Chr2:202593904 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2735G>A (p.Arg912His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848457] |
Chr2:201728618 [GRCh38] Chr2:202593341 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3703-7T>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848479] |
Chr2:201718217 [GRCh38] Chr2:202582940 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4878T>A (p.Asp1626Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001986732] |
Chr2:201704179 [GRCh38] Chr2:202568902 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3249G>A (p.Gly1083=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001891879] |
Chr2:201725454 [GRCh38] Chr2:202590177 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1241G>A (p.Gly414Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004043033]|Infantile-onset ascending hereditary spastic paralysis [RCV001965180] |
Chr2:201757632 [GRCh38] Chr2:202622355 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2024C>G (p.Ala675Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001948229] |
Chr2:201744404 [GRCh38] Chr2:202609127 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3513-7T>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001912465] |
Chr2:201723448 [GRCh38] Chr2:202588171 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4317A>C (p.Thr1439=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002007046] |
Chr2:201707955 [GRCh38] Chr2:202572678 [GRCh37] Chr2:2q33.1 |
likely benign |
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) |
copy number loss |
not specified [RCV002053275] |
Chr2:200851079..209054267 [GRCh37] Chr2:2q33.1-34 |
pathogenic |
NM_020919.4(ALS2):c.3989G>A (p.Arg1330His) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001986769] |
Chr2:201715687 [GRCh38] Chr2:202580410 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001969691]|not provided [RCV002473342] |
Chr2:201761768 [GRCh38] Chr2:202626491 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2077G>A (p.Ala693Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002043813] |
Chr2:201744351 [GRCh38] Chr2:202609074 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848437]|Infantile-onset ascending hereditary spastic paralysis [RCV002543401] |
Chr2:201746709 [GRCh38] Chr2:202611432 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.802G>A (p.Ala268Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848518] |
Chr2:201761192 [GRCh38] Chr2:202625915 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3624+6T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002003958] |
Chr2:201723324 [GRCh38] Chr2:202588047 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4692A>G (p.Thr1564=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848495] |
Chr2:201704600 [GRCh38] Chr2:202569323 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4831C>T (p.Arg1611Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848510] |
Chr2:201704461 [GRCh38] Chr2:202569184 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3985C>T (p.Arg1329Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004045986]|Infantile-onset ascending hereditary spastic paralysis [RCV002015677] |
Chr2:201715691 [GRCh38] Chr2:202580414 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.864del (p.Val289fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001942307] |
Chr2:201761130 [GRCh38] Chr2:202625853 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.3836+3G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002000409] |
Chr2:201718074 [GRCh38] Chr2:202582797 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1256A>T (p.Lys419Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001944573] |
Chr2:201757617 [GRCh38] Chr2:202622340 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.35A>G (p.Glu12Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001954535] |
Chr2:201767369 [GRCh38] Chr2:202632092 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.815C>T (p.Ala272Val) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002000460] |
Chr2:201761179 [GRCh38] Chr2:202625902 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3653A>G (p.Asp1218Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002038577] |
Chr2:201723092 [GRCh38] Chr2:202587815 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1042T>C (p.Tyr348His) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001905991] |
Chr2:201760952 [GRCh38] Chr2:202625675 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3703-2A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001995649] |
Chr2:201718212 [GRCh38] Chr2:202582935 [GRCh37] Chr2:2q33.1 |
pathogenic|likely pathogenic |
NM_020919.4(ALS2):c.749T>C (p.Ile250Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001974325] |
Chr2:201761245 [GRCh38] Chr2:202625968 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.334G>A (p.Ala112Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001903904] |
Chr2:201761660 [GRCh38] Chr2:202626383 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1171G>T (p.Ala391Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001888056] |
Chr2:201757702 [GRCh38] Chr2:202622425 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4626+6G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001904025] |
Chr2:201705410 [GRCh38] Chr2:202570133 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.162TCT[1] (p.Leu56del) |
microsatellite |
Infantile-onset ascending hereditary spastic paralysis [RCV001886042] |
Chr2:201767237..201767239 [GRCh38] Chr2:202631960..202631962 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3128G>A (p.Arg1043His) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001979398] |
Chr2:201726718 [GRCh38] Chr2:202591441 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.116G>A (p.Gly39Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002051336] |
Chr2:201767288 [GRCh38] Chr2:202632011 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1850C>T (p.Ala617Val) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001888269] |
Chr2:201746714 [GRCh38] Chr2:202611437 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.514T>G (p.Trp172Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002009867] |
Chr2:201761480 [GRCh38] Chr2:202626203 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4581-3T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002038349] |
Chr2:201705464 [GRCh38] Chr2:202570187 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3837-15A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001925961] |
Chr2:201715854 [GRCh38] Chr2:202580577 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3986G>A (p.Arg1329Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001992287] |
Chr2:201715690 [GRCh38] Chr2:202580413 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1471+3A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001993550] |
Chr2:201757399 [GRCh38] Chr2:202622122 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3094C>T (p.Arg1032Cys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001973936] |
Chr2:201726752 [GRCh38] Chr2:202591475 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3442_3444del (p.Pro1148del) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001877708] |
Chr2:201724363..201724365 [GRCh38] Chr2:202589086..202589088 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2111G>A (p.Arg704Gln) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001996236] |
Chr2:201744317 [GRCh38] Chr2:202609040 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1265T>C (p.Met422Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001974475] |
Chr2:201757608 [GRCh38] Chr2:202622331 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NC_000002.11:g.(?_201943606)_(204824322_?)del |
deletion |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001950956]|Autoimmune lymphoproliferative syndrome type 2B [RCV001950955]|Immunodeficiency, common variable, 1 [RCV003120780] |
Chr2:201943606..204824322 [GRCh37] Chr2:2q33.1-33.2 |
pathogenic |
NM_020919.4(ALS2):c.2302A>G (p.Ser768Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001919974] |
Chr2:201741723 [GRCh38] Chr2:202606446 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.236C>G (p.Pro79Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002048753] |
Chr2:201761758 [GRCh38] Chr2:202626481 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4037C>G (p.Thr1346Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001898688] |
Chr2:201711076 [GRCh38] Chr2:202575799 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1832G>C (p.Gly611Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002553553]|Infantile-onset ascending hereditary spastic paralysis [RCV001917467] |
Chr2:201746732 [GRCh38] Chr2:202611455 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.3437C>T (p.Ser1146Phe) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001898907] |
Chr2:201724370 [GRCh38] Chr2:202589093 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3053G>A (p.Gly1018Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001990990] |
Chr2:201726793 [GRCh38] Chr2:202591516 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3145T>G (p.Tyr1049Asp) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001882264] |
Chr2:201726701 [GRCh38] Chr2:202591424 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002571250]|Infantile-onset ascending hereditary spastic paralysis [RCV001972928] |
Chr2:201723089 [GRCh38] Chr2:202587812 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2756G>C (p.Ser919Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001996522] |
Chr2:201728597 [GRCh38] Chr2:202593320 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2978A>C (p.Lys993Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001957839] |
Chr2:201727213 [GRCh38] Chr2:202591936 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.878C>T (p.Thr293Ile) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001925770] |
Chr2:201761116 [GRCh38] Chr2:202625839 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1553A>G (p.Asp518Gly) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002031026] |
Chr2:201754590 [GRCh38] Chr2:202619313 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3584G>T (p.Gly1195Val) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002018400] |
Chr2:201723370 [GRCh38] Chr2:202588093 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4213C>T (p.Arg1405Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002548823]|Infantile-onset ascending hereditary spastic paralysis [RCV002048524] |
Chr2:201709948 [GRCh38] Chr2:202574671 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4368del (p.Lys1457fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001960666] |
Chr2:201707904 [GRCh38] Chr2:202572627 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2630G>A (p.Cys877Tyr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001866773] |
Chr2:201729134 [GRCh38] Chr2:202593857 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4636A>G (p.Thr1546Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001901330] |
Chr2:201705191 [GRCh38] Chr2:202569914 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.111C>G (p.Gly37=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001982155] |
Chr2:201767293 [GRCh38] Chr2:202632016 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4281G>T (p.Arg1427Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001926088] |
Chr2:201707991 [GRCh38] Chr2:202572714 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NC_000002.11:g.(?_202587756)_(202589192_?)del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001951369] |
Chr2:202587756..202589192 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2912+16C>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001939505] |
Chr2:201727689 [GRCh38] Chr2:202592412 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2417+17C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001956565] |
Chr2:201738653 [GRCh38] Chr2:202603376 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4399C>G (p.Pro1467Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001900553] |
Chr2:201707873 [GRCh38] Chr2:202572596 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4403+15del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001952712] |
Chr2:201707854 [GRCh38] Chr2:202572577 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2171-3T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001979805] |
Chr2:201741857 [GRCh38] Chr2:202606580 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2560C>G (p.Leu854Val) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002019243] |
Chr2:201733296 [GRCh38] Chr2:202598019 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.690A>G (p.Glu230=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001960757] |
Chr2:201761304 [GRCh38] Chr2:202626027 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4507A>G (p.Ile1503Val) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001906072] |
Chr2:201706919 [GRCh38] Chr2:202571642 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.272A>G (p.Gln91Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001906861] |
Chr2:201761722 [GRCh38] Chr2:202626445 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.169A>G (p.Thr57Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001972991] |
Chr2:201767235 [GRCh38] Chr2:202631958 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1531C>A (p.Pro511Thr) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001901563] |
Chr2:201754612 [GRCh38] Chr2:202619335 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1114-1G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002014253] |
Chr2:201757760 [GRCh38] Chr2:202622483 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.979A>G (p.Thr327Ala) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001935075] |
Chr2:201761015 [GRCh38] Chr2:202625738 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4528C>T (p.Arg1510Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001992862] |
Chr2:201706898 [GRCh38] Chr2:202571621 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1622del (p.His541fs) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV001955652] |
Chr2:201754521 [GRCh38] Chr2:202619244 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1249T>C (p.Ser417Pro) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001952453] |
Chr2:201757624 [GRCh38] Chr2:202622347 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.71A>G (p.Gln24Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001958373] |
Chr2:201767333 [GRCh38] Chr2:202632056 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3015T>G (p.Asp1005Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV001866718] |
Chr2:201726831 [GRCh38] Chr2:202591554 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2170+15C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002126353] |
Chr2:201744243 [GRCh38] Chr2:202608966 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4280+15C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002125342] |
Chr2:201709866 [GRCh38] Chr2:202574589 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1290T>C (p.Cys430=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002108211]|not provided [RCV004711810] |
Chr2:201757583 [GRCh38] Chr2:202622306 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4689-10T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002110451] |
Chr2:201704613 [GRCh38] Chr2:202569336 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1472-17G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002110479] |
Chr2:201754688 [GRCh38] Chr2:202619411 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3711G>A (p.Leu1237=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002087319] |
Chr2:201718202 [GRCh38] Chr2:202582925 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4938A>G (p.Ala1646=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002206929] |
Chr2:201701887 [GRCh38] Chr2:202566610 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2170+16del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV002088907] |
Chr2:201744242 [GRCh38] Chr2:202608965 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2171-25CAT[3] |
microsatellite |
Infantile-onset ascending hereditary spastic paralysis [RCV002206523] |
Chr2:201741868..201741870 [GRCh38] Chr2:202606591..202606593 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4838+19del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV002125316] |
Chr2:201704435 [GRCh38] Chr2:202569158 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2707dup (p.Met903fs) |
duplication |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002223745] |
Chr2:201729056..201729057 [GRCh38] Chr2:202593779..202593780 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2171-9T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002110040] |
Chr2:201741863 [GRCh38] Chr2:202606586 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1611G>A (p.Gly537=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002208613] |
Chr2:201754532 [GRCh38] Chr2:202619255 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4881A>G (p.Leu1627=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002167994] |
Chr2:201704176 [GRCh38] Chr2:202568899 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.176-19T>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002127308] |
Chr2:201761837 [GRCh38] Chr2:202626560 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002223744] |
Chr2:201709938 [GRCh38] Chr2:202574661 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.2171-13T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002111742] |
Chr2:201741867 [GRCh38] Chr2:202606590 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.960T>C (p.Ser320=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002207136] |
Chr2:201761034 [GRCh38] Chr2:202625757 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2526A>G (p.Arg842=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002071813] |
Chr2:201733330 [GRCh38] Chr2:202598053 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4404-17A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002111335] |
Chr2:201707039 [GRCh38] Chr2:202571762 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4580+17C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002168656] |
Chr2:201706829 [GRCh38] Chr2:202571552 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.405T>C (p.Asn135=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002079249] |
Chr2:201761589 [GRCh38] Chr2:202626312 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.176-8dup |
duplication |
Infantile-onset ascending hereditary spastic paralysis [RCV002113353] |
Chr2:201761825..201761826 [GRCh38] Chr2:202626548..202626549 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2170+11A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002149503] |
Chr2:201744247 [GRCh38] Chr2:202608970 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4404-18C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002188339] |
Chr2:201707040 [GRCh38] Chr2:202571763 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.2170+19T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002500434]|Infantile-onset ascending hereditary spastic paralysis [RCV002208091] |
Chr2:201744239 [GRCh38] Chr2:202608962 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1816-19T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002079028] |
Chr2:201746767 [GRCh38] Chr2:202611490 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3267C>T (p.Ile1089=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002130883] |
Chr2:201725436 [GRCh38] Chr2:202590159 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2980-18G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002114068]|not provided [RCV004711847] |
Chr2:201726884 [GRCh38] Chr2:202591607 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4581-16A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002078593] |
Chr2:201705477 [GRCh38] Chr2:202570200 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2713-13T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002173388] |
Chr2:201728653 [GRCh38] Chr2:202593376 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.18A>G (p.Arg6=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002210632] |
Chr2:201768868 [GRCh38] Chr2:202633591 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1738-6dup |
duplication |
Infantile-onset ascending hereditary spastic paralysis [RCV002132441] |
Chr2:201749794..201749795 [GRCh38] Chr2:202614517..202614518 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.285T>G (p.Thr95=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002115500] |
Chr2:201761709 [GRCh38] Chr2:202626432 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4332T>A (p.Ala1444=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002173347] |
Chr2:201707940 [GRCh38] Chr2:202572663 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.176-10dup |
duplication |
Infantile-onset ascending hereditary spastic paralysis [RCV002195350] |
Chr2:201761827..201761828 [GRCh38] Chr2:202626550..202626551 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3512+13_3512+15del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV002084720] |
Chr2:201724280..201724282 [GRCh38] Chr2:202589003..202589005 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1650G>A (p.Pro550=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002078188] |
Chr2:201753233 [GRCh38] Chr2:202617956 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1641-16T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002115229] |
Chr2:201753258 [GRCh38] Chr2:202617981 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1653G>A (p.Leu551=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002169144] |
Chr2:201753230 [GRCh38] Chr2:202617953 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1032A>G (p.Ala344=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002095830]|not specified [RCV002222755] |
Chr2:201760962 [GRCh38] Chr2:202625685 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4280+16A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002173732] |
Chr2:201709865 [GRCh38] Chr2:202574588 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1472-18C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002080271] |
Chr2:201754689 [GRCh38] Chr2:202619412 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4004+18C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002124498] |
Chr2:201715654 [GRCh38] Chr2:202580377 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.246C>T (p.Pro82=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002191971] |
Chr2:201761748 [GRCh38] Chr2:202626471 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2979+13T>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002213523] |
Chr2:201727199 [GRCh38] Chr2:202591922 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.660C>G (p.Leu220=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002127189] |
Chr2:201761334 [GRCh38] Chr2:202626057 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1509A>G (p.Lys503=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002092242] |
Chr2:201754634 [GRCh38] Chr2:202619357 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3703-6A>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002113838] |
Chr2:201718216 [GRCh38] Chr2:202582939 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4688+15G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002095157] |
Chr2:201705124 [GRCh38] Chr2:202569847 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3564T>C (p.Gly1188=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002213678] |
Chr2:201723390 [GRCh38] Chr2:202588113 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4004+11A>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002168390] |
Chr2:201715661 [GRCh38] Chr2:202580384 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3894C>T (p.Asp1298=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002138655] |
Chr2:201715782 [GRCh38] Chr2:202580505 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2331C>G (p.Leu777=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002101748] |
Chr2:201741694 [GRCh38] Chr2:202606417 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3204T>C (p.Asp1068=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002199797] |
Chr2:201726528 [GRCh38] Chr2:202591251 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4403+17G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002102502] |
Chr2:201707852 [GRCh38] Chr2:202572575 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4123-20T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002100872] |
Chr2:201710058 [GRCh38] Chr2:202574781 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3702+20T>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002219349] |
Chr2:201723023 [GRCh38] Chr2:202587746 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.138A>G (p.Ala46=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002103033] |
Chr2:201767266 [GRCh38] Chr2:202631989 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4935+10G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002102024] |
Chr2:201704112 [GRCh38] Chr2:202568835 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1998+11A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002216761] |
Chr2:201746555 [GRCh38] Chr2:202611278 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1446C>T (p.Leu482=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002164226] |
Chr2:201757427 [GRCh38] Chr2:202622150 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1114-19T>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002081202] |
Chr2:201757778 [GRCh38] Chr2:202622501 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.945C>T (p.Ser315=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002103258] |
Chr2:201761049 [GRCh38] Chr2:202625772 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3702+17_3702+20del |
microsatellite |
Infantile-onset ascending hereditary spastic paralysis [RCV002098106] |
Chr2:201723023..201723026 [GRCh38] Chr2:202587746..202587749 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1479C>T (p.Pro493=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002100071] |
Chr2:201754664 [GRCh38] Chr2:202619387 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1158C>A (p.Thr386=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002122928] |
Chr2:201757715 [GRCh38] Chr2:202622438 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.4838+13T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002163144] |
Chr2:201704441 [GRCh38] Chr2:202569164 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2418-14del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV002117861] |
Chr2:201733452 [GRCh38] Chr2:202598175 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.1472-20del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV002117862] |
Chr2:201754691 [GRCh38] Chr2:202619414 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3625-5T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002100204] |
Chr2:201723125 [GRCh38] Chr2:202587848 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3699A>G (p.Gly1233=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002158134] |
Chr2:201723046 [GRCh38] Chr2:202587769 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2604G>A (p.Leu868=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002158708] |
Chr2:201729160 [GRCh38] Chr2:202593883 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4131C>T (p.Asp1377=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002124013] |
Chr2:201710030 [GRCh38] Chr2:202574753 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2712+8A>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002124028] |
Chr2:201729044 [GRCh38] Chr2:202593767 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.175+18G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002143740] |
Chr2:201767211 [GRCh38] Chr2:202631934 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2842-17C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002202794] |
Chr2:201727792 [GRCh38] Chr2:202592515 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1114-17A>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002119555] |
Chr2:201757776 [GRCh38] Chr2:202622499 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4725C>T (p.Ile1575=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002200021] |
Chr2:201704567 [GRCh38] Chr2:202569290 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3836+14G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002141397] |
Chr2:201718063 [GRCh38] Chr2:202582786 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3836+18A>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002123450] |
Chr2:201718059 [GRCh38] Chr2:202582782 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.300C>T (p.Ser100=) |
single nucleotide variant |
ALS2-related disorder [RCV004543814]|Infantile-onset ascending hereditary spastic paralysis [RCV002120330] |
Chr2:201761694 [GRCh38] Chr2:202626417 [GRCh37] Chr2:2q33.1 |
benign|likely benign |
NM_020919.4(ALS2):c.2980-8G>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002198799] |
Chr2:201726874 [GRCh38] Chr2:202591597 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2712+16T>G |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002178394] |
Chr2:201729036 [GRCh38] Chr2:202593759 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.333C>T (p.Val111=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002119242] |
Chr2:201761661 [GRCh38] Chr2:202626384 [GRCh37] Chr2:2q33.1 |
likely benign |
NC_000002.11:g.(?_202571549)_(202571765_?)del |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV003109777] |
Chr2:202571549..202571765 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NC_000002.11:g.(?_202566574)_(202633608_?)dup |
duplication |
Infantile-onset ascending hereditary spastic paralysis [RCV003109778] |
Chr2:202566574..202633608 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.176-7C>T |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003112396] |
Chr2:201761825 [GRCh38] Chr2:202626548 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.2913-15T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003111898] |
Chr2:201727293 [GRCh38] Chr2:202592016 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3808G>A (p.Glu1270Lys) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003112612] |
Chr2:201718105 [GRCh38] Chr2:202582828 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.653A>G (p.Gln218Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003118171] |
Chr2:201761341 [GRCh38] Chr2:202626064 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4404-5T>C |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003114889] |
Chr2:201707027 [GRCh38] Chr2:202571750 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.144C>A (p.Leu48=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003113415] |
Chr2:201767260 [GRCh38] Chr2:202631983 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.92C>T (p.Thr31Ile) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003115028] |
Chr2:201767312 [GRCh38] Chr2:202632035 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.247A>G (p.Ile83Val) |
single nucleotide variant |
not provided [RCV004784751] |
Chr2:201761747 [GRCh38] Chr2:202626470 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4584A>C (p.Lys1528Asn) |
single nucleotide variant |
not provided [RCV004786129] |
Chr2:201705458 [GRCh38] Chr2:202570181 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2168dup (p.Leu723fs) |
duplication |
Amyotrophic lateral sclerosis type 2, juvenile [RCV003153174] |
Chr2:201744259..201744260 [GRCh38] Chr2:202608982..202608983 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.1606G>A (p.Glu536Lys) |
single nucleotide variant |
not provided [RCV003152074] |
Chr2:201754537 [GRCh38] Chr2:202619260 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3893del (p.Asp1298fs) |
deletion |
Amyotrophic lateral sclerosis type 2, juvenile [RCV003152844] |
Chr2:201715783 [GRCh38] Chr2:202580506 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.158_160del (p.Gly53del) |
deletion |
Infantile-onset ascending hereditary spastic paralysis [RCV002259432] |
Chr2:201767244..201767246 [GRCh38] Chr2:202631967..202631969 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.347G>A (p.Gly116Glu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002259428] |
Chr2:201761647 [GRCh38] Chr2:202626370 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.4206A>G (p.Gly1402=) |
single nucleotide variant |
not specified [RCV002259435] |
Chr2:201709955 [GRCh38] Chr2:202574678 [GRCh37] Chr2:2q33.1 |
benign |
NM_020919.4(ALS2):c.3099T>A (p.Ser1033Arg) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003096305]|not provided [RCV002279113] |
Chr2:201726747 [GRCh38] Chr2:202591470 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003101455]|Infantile-onset ascending hereditary spastic paralysis [RCV003101456]|not provided [RCV002261726] |
Chr2:201760945 [GRCh38] Chr2:202625668 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2929A>G (p.Thr977Ala) |
single nucleotide variant |
not provided [RCV002267550] |
Chr2:201727262 [GRCh38] Chr2:202591985 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3 |
copy number gain |
CYSTIC HYGROMA, VSD [RCV002282736] |
Chr2:201838259..202711243 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1686C>G (p.Ile562Met) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002296884] |
Chr2:201753197 [GRCh38] Chr2:202617920 [GRCh37] Chr2:2q33.1 |
uncertain significance |
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 |
copy number loss |
not provided [RCV002473800] |
Chr2:189909904..209468383 [GRCh37] Chr2:2q32.2-34 |
pathogenic |
NM_020919.4(ALS2):c.176A>T (p.Asp59Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002471927] |
Chr2:201761818 [GRCh38] Chr2:202626541 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del) |
microsatellite |
not provided [RCV002475044] |
Chr2:201757683..201757685 [GRCh38] Chr2:202622406..202622408 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4368G>T (p.Gly1456=) |
single nucleotide variant |
not provided [RCV002475047] |
Chr2:201707904 [GRCh38] Chr2:202572627 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly) |
single nucleotide variant |
not provided [RCV002475043] |
Chr2:201725357 [GRCh38] Chr2:202590080 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.183G>A (p.Glu61=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002858517] |
Chr2:201761811 [GRCh38] Chr2:202626534 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3829A>T (p.Lys1277Ter) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002471488] |
Chr2:201718084 [GRCh38] Chr2:202582807 [GRCh37] Chr2:2q33.1 |
pathogenic |
NM_020919.4(ALS2):c.1738-4A>G |
single nucleotide variant |
not provided [RCV002475042] |
Chr2:201749793 [GRCh38] Chr2:202614516 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1737+7G>A |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003108123]|not provided [RCV002475046] |
Chr2:201753139 [GRCh38] Chr2:202617862 [GRCh37] Chr2:2q33.1 |
likely benign|uncertain significance |
NM_020919.4(ALS2):c.2700dup (p.Gly901fs) |
duplication |
ALS2-related disorder [RCV004584274] |
Chr2:201729063..201729064 [GRCh38] Chr2:202593786..202593787 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.2539T>C (p.Tyr847His) |
single nucleotide variant |
ALS2-related motor neuron disease [RCV003994424]|Infantile-onset ascending hereditary spastic paralysis [RCV002299796] |
Chr2:201733317 [GRCh38] Chr2:202598040 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1148G>T (p.Ser383Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002837099] |
Chr2:201757725 [GRCh38] Chr2:202622448 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.2647G>A (p.Gly883Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002995050]|not provided [RCV004572503] |
Chr2:201729117 [GRCh38] Chr2:202593840 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.882T>C (p.Leu294=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002837614] |
Chr2:201761112 [GRCh38] Chr2:202625835 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4150G>A (p.Gly1384Ser) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002904238] |
Chr2:201710011 [GRCh38] Chr2:202574734 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.3816T>C (p.Asp1272=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003011976] |
Chr2:201718097 [GRCh38] Chr2:202582820 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.4227G>T (p.Gln1409His) |
single nucleotide variant |
Inborn genetic diseases [RCV002840922] |
Chr2:201709934 [GRCh38] Chr2:202574657 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs) |
deletion |
Amyotrophic lateral sclerosis type 2, juvenile [RCV002512482] |
Chr2:201757546..201757552 [GRCh38] Chr2:202622269..202622275 [GRCh37] Chr2:2q33.1 |
likely pathogenic |
NM_020919.4(ALS2):c.4191A>T (p.Thr1397=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002751009] |
Chr2:201709970 [GRCh38] Chr2:202574693 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.3831A>G (p.Lys1277=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV002972479] |
Chr2:201718082 [GRCh38] Chr2:202582805 [GRCh37] Chr2:2q33.1 |
likely benign |
NM_020919.4(ALS2):c.1250C>T (p.Ser417Leu) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003014561] |
Chr2:201757623 [GRCh38] Chr2:202622346 [GRCh37] Chr2:2q33.1 |
uncertain significance |
NM_020919.4(ALS2):c.4464G>A (p.Pro1488=) |
single nucleotide variant |
Infantile-onset ascending hereditary spastic paralysis [RCV003015406] |
Chr2:201706962 [GRCh38] Chr2:202571685 [ |