| NM_004738.5(VAPB):c.492C>T (p.Thr164=) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141337]|Amyotrophic lateral sclerosis type 8 [RCV001141338]|Amyotrophic lateral sclerosis type 8 [RCV002254553]|Inborn genetic diseases [RCV002350278]|VAPB-related disorder [RCV003915561]|not provided [RCV000714164] |
Chr20:58441002 [GRCh38]
Chr20:57016058 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.348T>C (p.Asp116=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254552]|Inborn genetic diseases [RCV002456128] |
Chr20:58438977 [GRCh38]
Chr20:57014033 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.137C>T (p.Thr46Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV000023467]|not provided [RCV000059634] |
Chr20:58418289 [GRCh38]
Chr20:56993345 [GRCh37]
Chr20:20q13.32 |
pathogenic|not provided |
| NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV002254541]|Amyotrophic lateral sclerosis type 8 [RCV000005073]|Amyotrophic lateral sclerosis type 8 [RCV002254542]|not provided [RCV000059635] |
Chr20:58418318 [GRCh38]
Chr20:56993374 [GRCh37]
Chr20:20q13.32 |
pathogenic|not provided |
| NM_004738.4(VAPB):c.58+13731G>C |
single nucleotide variant |
Lung cancer [RCV000101691] |
Chr20:58403248 [GRCh38]
Chr20:56978304 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 |
copy number gain |
See cases [RCV000053035] |
Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33 |
pathogenic |
| NM_004738.5(VAPB):c.656G>T (p.Gly219Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254543]|not provided [RCV000514140]|not specified [RCV000171347] |
Chr20:58444159 [GRCh38]
Chr20:57019215 [GRCh37]
Chr20:20q13.32 |
likely pathogenic|likely benign|uncertain significance |
| GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 |
copy number gain |
See cases [RCV000135859] |
Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33 |
pathogenic |
| GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 |
copy number gain |
See cases [RCV000135622] |
Chr20:55630597..60941207 [GRCh38]
Chr20:54220678..59516263 [GRCh37]
Chr20:53639062..58949658 [NCBI36]
Chr20:20q13.2-13.33 |
likely pathogenic |
| GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 |
copy number gain |
See cases [RCV000138035] |
Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33 |
pathogenic |
| GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 |
copy number gain |
See cases [RCV000141347] |
Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33 |
pathogenic |
| GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 |
copy number gain |
See cases [RCV000143584] |
Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33 |
likely pathogenic |
| NM_004738.5(VAPB):c.315+35C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV002244621]|Amyotrophic lateral sclerosis type 8 [RCV002244620]|not provided [RCV001618434]|not specified [RCV000242156] |
Chr20:58434740 [GRCh38]
Chr20:57009796 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000403252]|Amyotrophic lateral sclerosis type 8 [RCV000314779]|Amyotrophic lateral sclerosis type 8 [RCV002254544]|Inborn genetic diseases [RCV002374418]|not provided [RCV001573916]|not specified [RCV000244932] |
Chr20:58439019 [GRCh38]
Chr20:57014075 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*1413C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000284187]|Amyotrophic lateral sclerosis type 8 [RCV000341587] |
Chr20:58445648 [GRCh38]
Chr20:57020704 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*3274C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000303074]|Amyotrophic lateral sclerosis type 8 [RCV000360211] |
Chr20:58447509 [GRCh38]
Chr20:57022565 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*3315A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000267868]|Amyotrophic lateral sclerosis type 8 [RCV000306599] |
Chr20:58447550 [GRCh38]
Chr20:57022606 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4862A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000379930]|Amyotrophic lateral sclerosis type 8 [RCV000285524] |
Chr20:58449097 [GRCh38]
Chr20:57024153 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3027A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000269613]|Amyotrophic lateral sclerosis type 8 [RCV000327036] |
Chr20:58447262 [GRCh38]
Chr20:57022318 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*348C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000291998]|Amyotrophic lateral sclerosis type 8 [RCV000349192] |
Chr20:58444583 [GRCh38]
Chr20:57019639 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4072C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000275528]|Amyotrophic lateral sclerosis type 8 [RCV000330679] |
Chr20:58448307 [GRCh38]
Chr20:57023363 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*2766C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000262707]|Amyotrophic lateral sclerosis type 8 [RCV000320238] |
Chr20:58447001 [GRCh38]
Chr20:57022057 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*1282A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000372664]|Amyotrophic lateral sclerosis type 8 [RCV000280522]|not provided [RCV004717405] |
Chr20:58445517 [GRCh38]
Chr20:57020573 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.-149dup |
duplication |
Amyotrophic Lateral Sclerosis, Dominant [RCV000375322]|Spinal Muscular Atrophy, Dominant [RCV000280776]|not provided [RCV001636946] |
Chr20:58389302..58389303 [GRCh38]
Chr20:56964358..56964359 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*4559A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000270178]|Amyotrophic lateral sclerosis type 8 [RCV000325219] |
Chr20:58448794 [GRCh38]
Chr20:57023850 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*5790G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000307346]|Amyotrophic lateral sclerosis type 8 [RCV000343522]|not provided [RCV003430864] |
Chr20:58450025 [GRCh38]
Chr20:57025081 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*3764C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000391380]|Amyotrophic lateral sclerosis type 8 [RCV000307620] |
Chr20:58447999 [GRCh38]
Chr20:57023055 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*5145T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000403731]|Amyotrophic lateral sclerosis type 8 [RCV000307814] |
Chr20:58449380 [GRCh38]
Chr20:57024436 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6746C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000270282]|Amyotrophic lateral sclerosis type 8 [RCV000362492] |
Chr20:58450981 [GRCh38]
Chr20:57026037 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4868C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000376542]|Amyotrophic lateral sclerosis type 8 [RCV000321832]|not provided [RCV004717411] |
Chr20:58449103 [GRCh38]
Chr20:57024159 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*3805G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000343799]|Amyotrophic lateral sclerosis type 8 [RCV000391100] |
Chr20:58448040 [GRCh38]
Chr20:57023096 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*3428CATGTGTG[2] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000363767]|Spinal Muscular Atrophy, Dominant [RCV000271475] |
Chr20:58447657..58447664 [GRCh38]
Chr20:57022713..57022720 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*937G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000270734]|Amyotrophic lateral sclerosis type 8 [RCV000328180]|not provided [RCV004717403] |
Chr20:58445172 [GRCh38]
Chr20:57020228 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*6619G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000311461]|Amyotrophic lateral sclerosis type 8 [RCV000368444] |
Chr20:58450854 [GRCh38]
Chr20:57025910 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*6684ATG[1] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000328737]|Spinal Muscular Atrophy, Dominant [RCV000271303] |
Chr20:58450919..58450921 [GRCh38]
Chr20:57025975..57025977 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*6088C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000273397]|Amyotrophic lateral sclerosis type 8 [RCV000386505]|not provided [RCV003311769] |
Chr20:58450323 [GRCh38]
Chr20:57025379 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*4446G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000273605]|Amyotrophic lateral sclerosis type 8 [RCV000368174]|not provided [RCV004717409] |
Chr20:58448681 [GRCh38]
Chr20:57023737 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*1050G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000384386]|Amyotrophic lateral sclerosis type 8 [RCV000273510] |
Chr20:58445285 [GRCh38]
Chr20:57020341 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000312731]|Amyotrophic lateral sclerosis type 8 [RCV000348929]|Amyotrophic lateral sclerosis type 8 [RCV002254546]|Inborn genetic diseases [RCV002323548] |
Chr20:58438961 [GRCh38]
Chr20:57014017 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*2671A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000393672]|Amyotrophic lateral sclerosis type 8 [RCV000313081] |
Chr20:58446906 [GRCh38]
Chr20:57021962 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*4418C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000313237]|Amyotrophic lateral sclerosis type 8 [RCV000402589] |
Chr20:58448653 [GRCh38]
Chr20:57023709 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3942C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000354988]|Amyotrophic lateral sclerosis type 8 [RCV000260092] |
Chr20:58448177 [GRCh38]
Chr20:57023233 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-159_-158insCC |
insertion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000260456]|Spinal Muscular Atrophy, Dominant [RCV000315707] |
Chr20:58389301..58389302 [GRCh38]
Chr20:56964357..56964358 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000353224]|Amyotrophic lateral sclerosis type 8 [RCV002254547]|Inborn genetic diseases [RCV002338940]|Spinal Muscular Atrophy, Dominant [RCV000260698]|VAPB-related disorder [RCV003932357]|not provided [RCV001653641]|not specified [RCV001289412] |
Chr20:58440984..58440986 [GRCh38]
Chr20:57016040..57016042 [GRCh37]
Chr20:20q13.32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004738.5(VAPB):c.*5352C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000373907]|Amyotrophic lateral sclerosis type 8 [RCV000260590] |
Chr20:58449587 [GRCh38]
Chr20:57024643 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1451GT[17] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000276168]|Spinal Muscular Atrophy, Dominant [RCV000333567]|not provided [RCV004694623] |
Chr20:58445685..58445686 [GRCh38]
Chr20:57020741..57020742 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1451GT[16] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000353309]|Spinal Muscular Atrophy, Dominant [RCV000260784] |
Chr20:58445685..58445688 [GRCh38]
Chr20:57020741..57020744 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6578T>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000369628]|Amyotrophic lateral sclerosis type 8 [RCV000406359] |
Chr20:58450813 [GRCh38]
Chr20:57025869 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*4923A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000337193]|Amyotrophic lateral sclerosis type 8 [RCV000282201] |
Chr20:58449158 [GRCh38]
Chr20:57024214 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.-152C>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000376361]|Amyotrophic lateral sclerosis type 8 [RCV000321722] |
Chr20:58389308 [GRCh38]
Chr20:56964364 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3516C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000262124]|Amyotrophic lateral sclerosis type 8 [RCV000317307] |
Chr20:58447751 [GRCh38]
Chr20:57022807 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-189C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000273575]|Amyotrophic lateral sclerosis type 8 [RCV000368078] |
Chr20:58389271 [GRCh38]
Chr20:56964327 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5095T>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000407007]|Amyotrophic lateral sclerosis type 8 [RCV000351005]|not provided [RCV003326415] |
Chr20:58449330 [GRCh38]
Chr20:57024386 [GRCh37]
Chr20:20q13.32 |
benign|likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*4271A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000393655]|Amyotrophic lateral sclerosis type 8 [RCV000283616]|not provided [RCV004718534] |
Chr20:58448506 [GRCh38]
Chr20:57023562 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*1800A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000321555]|Amyotrophic lateral sclerosis type 8 [RCV000282928] |
Chr20:58446035 [GRCh38]
Chr20:57021091 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.4(VAPB):c.-292G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000284594]|Amyotrophic lateral sclerosis type 8 [RCV000391526] |
Chr20:58389168 [GRCh38]
Chr20:56964224 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*3020A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000323636]|Amyotrophic lateral sclerosis type 8 [RCV000380553] |
Chr20:58447255 [GRCh38]
Chr20:57022311 [GRCh37]
Chr20:20q13.32 |
benign|likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*200_*214delinsGTTGAGGGGGAAACATTAAAAG |
indel |
Amyotrophic Lateral Sclerosis, Dominant [RCV000381968]|Spinal Muscular Atrophy, Dominant [RCV000324973] |
Chr20:58444435..58444449 [GRCh38]
Chr20:57019491..57019505 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5815G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000358419]|Amyotrophic lateral sclerosis type 8 [RCV000263659] |
Chr20:58450050 [GRCh38]
Chr20:57025106 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4265G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000342315]|Amyotrophic lateral sclerosis type 8 [RCV000287264] |
Chr20:58448500 [GRCh38]
Chr20:57023556 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.-33C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000341800]|Amyotrophic lateral sclerosis type 8 [RCV000286786]|Amyotrophic lateral sclerosis type 8 [RCV002254545]|not provided [RCV004703829] |
Chr20:58389427 [GRCh38]
Chr20:56964483 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*4240G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000381779]|Amyotrophic lateral sclerosis type 8 [RCV000327190] |
Chr20:58448475 [GRCh38]
Chr20:57023531 [GRCh37]
Chr20:20q13.32 |
benign|likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*4520T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000364620]|Amyotrophic lateral sclerosis type 8 [RCV000328563]|not provided [RCV004717410] |
Chr20:58448755 [GRCh38]
Chr20:57023811 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*3493G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000328925]|Amyotrophic lateral sclerosis type 8 [RCV000385849] |
Chr20:58447728 [GRCh38]
Chr20:57022784 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6182C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000343815]|Amyotrophic lateral sclerosis type 8 [RCV000288863]|not provided [RCV004717413] |
Chr20:58450417 [GRCh38]
Chr20:57025473 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*1168G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000331059]|Amyotrophic lateral sclerosis type 8 [RCV000387846] |
Chr20:58445403 [GRCh38]
Chr20:57020459 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3870G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000300550]|Amyotrophic lateral sclerosis type 8 [RCV000264078] |
Chr20:58448105 [GRCh38]
Chr20:57023161 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2320T>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000347229]|Amyotrophic lateral sclerosis type 8 [RCV000289976] |
Chr20:58446555 [GRCh38]
Chr20:57021611 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*4052C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000334124]|Amyotrophic lateral sclerosis type 8 [RCV000370068]|not provided [RCV004717408] |
Chr20:58448287 [GRCh38]
Chr20:57023343 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*5769G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000386321]|Amyotrophic lateral sclerosis type 8 [RCV000291646] |
Chr20:58450004 [GRCh38]
Chr20:57025060 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*3118C>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000291949]|Amyotrophic lateral sclerosis type 8 [RCV000383859] |
Chr20:58447353 [GRCh38]
Chr20:57022409 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3725T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000347446]|Amyotrophic lateral sclerosis type 8 [RCV000292551] |
Chr20:58447960 [GRCh38]
Chr20:57023016 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*1335C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000338173]|Amyotrophic lateral sclerosis type 8 [RCV000391276] |
Chr20:58445570 [GRCh38]
Chr20:57020626 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*5832G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000332012]|Amyotrophic lateral sclerosis type 8 [RCV000276965] |
Chr20:58450067 [GRCh38]
Chr20:57025123 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*375C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000387344]|Amyotrophic lateral sclerosis type 8 [RCV000295429] |
Chr20:58444610 [GRCh38]
Chr20:57019666 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*1265G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000295668]|Amyotrophic lateral sclerosis type 8 [RCV000315665]|not provided [RCV004717404] |
Chr20:58445500 [GRCh38]
Chr20:57020556 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*6257del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000400097]|Spinal Muscular Atrophy, Dominant [RCV000340437] |
Chr20:58450492 [GRCh38]
Chr20:57025548 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3566A>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000296133]|Amyotrophic lateral sclerosis type 8 [RCV000371903] |
Chr20:58447801 [GRCh38]
Chr20:57022857 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*4952C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000296236]|Amyotrophic lateral sclerosis type 8 [RCV000402003] |
Chr20:58449187 [GRCh38]
Chr20:57024243 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*2748A>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000355067]|Amyotrophic lateral sclerosis type 8 [RCV000297911] |
Chr20:58446983 [GRCh38]
Chr20:57022039 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4327A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000353079]|Amyotrophic lateral sclerosis type 8 [RCV000298172] |
Chr20:58448562 [GRCh38]
Chr20:57023618 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.574-4G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000356646]|Amyotrophic lateral sclerosis type 8 [RCV000299440]|Amyotrophic lateral sclerosis type 8 [RCV002254548]|Inborn genetic diseases [RCV002348093]|VAPB-related disorder [RCV003922478]|not provided [RCV001564242] |
Chr20:58444073 [GRCh38]
Chr20:57019129 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*2224C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000393666]|Amyotrophic lateral sclerosis type 8 [RCV000343570]|not provided [RCV004717406] |
Chr20:58446459 [GRCh38]
Chr20:57021515 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*5233_*5237del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000362262]|Spinal Muscular Atrophy, Dominant [RCV000267555] |
Chr20:58449467..58449471 [GRCh38]
Chr20:57024523..57024527 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.618C>T (p.Ser206=) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000264195]|Amyotrophic lateral sclerosis type 8 [RCV000321639]|Amyotrophic lateral sclerosis type 8 [RCV002520024]|Inborn genetic diseases [RCV002356472] |
Chr20:58444121 [GRCh38]
Chr20:57019177 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*602G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000337700]|Amyotrophic lateral sclerosis type 8 [RCV000299180] |
Chr20:58444837 [GRCh38]
Chr20:57019893 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3192T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000408059]|Amyotrophic lateral sclerosis type 8 [RCV000299419] |
Chr20:58447427 [GRCh38]
Chr20:57022483 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*5826G>A |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000355038]|Spinal Muscular Atrophy, Dominant [RCV000300145] |
Chr20:58450061 [GRCh38]
Chr20:57025117 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5789C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000346521]|Amyotrophic lateral sclerosis type 8 [RCV000391026] |
Chr20:58450024 [GRCh38]
Chr20:57025080 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1773G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000375216]|Amyotrophic lateral sclerosis type 8 [RCV000318234] |
Chr20:58446008 [GRCh38]
Chr20:57021064 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*5298C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000264156]|Amyotrophic lateral sclerosis type 8 [RCV000319356]|not provided [RCV004718535] |
Chr20:58449533 [GRCh38]
Chr20:57024589 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*2819A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000358117]|Amyotrophic lateral sclerosis type 8 [RCV000266259]|not provided [RCV004717407] |
Chr20:58447054 [GRCh38]
Chr20:57022110 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*726A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000302170]|Amyotrophic lateral sclerosis type 8 [RCV000406420] |
Chr20:58444961 [GRCh38]
Chr20:57020017 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*3118C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000349600]|Amyotrophic lateral sclerosis type 8 [RCV000387756]|not provided [RCV002510880] |
Chr20:58447353 [GRCh38]
Chr20:57022409 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*75G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000267525]|Amyotrophic lateral sclerosis type 8 [RCV000378414] |
Chr20:58444310 [GRCh38]
Chr20:57019366 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*753C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000359310]|Amyotrophic lateral sclerosis type 8 [RCV000267325]|not provided [RCV004717402] |
Chr20:58444988 [GRCh38]
Chr20:57020044 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*5250T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000303935]|Amyotrophic lateral sclerosis type 8 [RCV000358667]|not provided [RCV004717412] |
Chr20:58449485 [GRCh38]
Chr20:57024541 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*3822C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000358904]|Amyotrophic lateral sclerosis type 8 [RCV000304157] |
Chr20:58448057 [GRCh38]
Chr20:57023113 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*884A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000363071]|Amyotrophic lateral sclerosis type 8 [RCV000306080] |
Chr20:58445119 [GRCh38]
Chr20:57020175 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*596C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000352804]|Amyotrophic lateral sclerosis type 8 [RCV000408322] |
Chr20:58444831 [GRCh38]
Chr20:57019887 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143189]|Amyotrophic lateral sclerosis type 8 [RCV001143188]|Amyotrophic lateral sclerosis type 8 [RCV002254551]|Inborn genetic diseases [RCV002367723]|not specified [RCV000516581] |
Chr20:58444170 [GRCh38]
Chr20:57019226 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*5795T>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000391022]|Amyotrophic lateral sclerosis type 8 [RCV000303838] |
Chr20:58450030 [GRCh38]
Chr20:57025086 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1451GT[19] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000405957]|Spinal Muscular Atrophy, Dominant [RCV000363809] |
Chr20:58445684..58445685 [GRCh38]
Chr20:57020740..57020741 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.4(VAPB):c.-229_-226dupGTGC |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000304828]|Spinal Muscular Atrophy, Dominant [RCV000364118]|not provided [RCV004694621] |
Chr20:58389207..58389208 [GRCh38]
Chr20:56964263..56964264 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5511_*5513del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000316542]|Spinal Muscular Atrophy, Dominant [RCV000389687] |
Chr20:58449745..58449747 [GRCh38]
Chr20:57024801..57024803 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.30C>T (p.Leu10=) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000402917]|Amyotrophic lateral sclerosis type 8 [RCV000347700]|Amyotrophic lateral sclerosis type 8 [RCV002254693]|Inborn genetic diseases [RCV002323547] |
Chr20:58389489 [GRCh38]
Chr20:56964545 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.-159_-158insC |
insertion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000333178]|Spinal Muscular Atrophy, Dominant [RCV000369109] |
Chr20:58389301..58389302 [GRCh38]
Chr20:56964357..56964358 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5699_*5700insA |
insertion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000295455]|Spinal Muscular Atrophy, Dominant [RCV000350421] |
Chr20:58449934..58449935 [GRCh38]
Chr20:57024990..57024991 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1431G>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000306681]|Amyotrophic lateral sclerosis type 8 [RCV000405372] |
Chr20:58445666 [GRCh38]
Chr20:57020722 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3628A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000386859]|Amyotrophic lateral sclerosis type 8 [RCV000350948] |
Chr20:58447863 [GRCh38]
Chr20:57022919 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3134G>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000295898]|Amyotrophic lateral sclerosis type 8 [RCV000334535] |
Chr20:58447369 [GRCh38]
Chr20:57022425 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2676A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000403086]|Amyotrophic lateral sclerosis type 8 [RCV000369959] |
Chr20:58446911 [GRCh38]
Chr20:57021967 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6238T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000285440]|Amyotrophic lateral sclerosis type 8 [RCV000379844] |
Chr20:58450473 [GRCh38]
Chr20:57025529 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-198GCCCTC[3] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000308817]|Spinal Muscular Atrophy, Dominant [RCV000404362] |
Chr20:58389257..58389258 [GRCh38]
Chr20:56964313..56964314 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1919A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000378620]|Amyotrophic lateral sclerosis type 8 [RCV000286539] |
Chr20:58446154 [GRCh38]
Chr20:57021210 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6842A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000379621]|Amyotrophic lateral sclerosis type 8 [RCV000322703] |
Chr20:58451077 [GRCh38]
Chr20:57026133 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3260C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000405480]|Amyotrophic lateral sclerosis type 8 [RCV000337958] |
Chr20:58447495 [GRCh38]
Chr20:57022551 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4306del |
deletion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000338743]|Spinal Muscular Atrophy, Dominant [RCV000393662] |
Chr20:58448537 [GRCh38]
Chr20:57023593 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254550]|Inborn genetic diseases [RCV002350144]|not specified [RCV000518325] |
Chr20:58441061 [GRCh38]
Chr20:57016117 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.-12C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000382271]|Amyotrophic lateral sclerosis type 8 [RCV000287965] |
Chr20:58389448 [GRCh38]
Chr20:56964504 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6460GT[3] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000298656]|Spinal Muscular Atrophy, Dominant [RCV000392765] |
Chr20:58450694..58450695 [GRCh38]
Chr20:57025750..57025751 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.4(VAPB):c.-283A>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000339660]|Amyotrophic lateral sclerosis type 8 [RCV000402456] |
Chr20:58389177 [GRCh38]
Chr20:56964233 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6354G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000338423]|Amyotrophic lateral sclerosis type 8 [RCV000299905] |
Chr20:58450589 [GRCh38]
Chr20:57025645 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1451GT[20] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000368563]|Spinal Muscular Atrophy, Dominant [RCV000311492]|not provided [RCV004694622] |
Chr20:58445684..58445685 [GRCh38]
Chr20:57020740..57020741 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5114G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000365876]|Amyotrophic lateral sclerosis type 8 [RCV000311251] |
Chr20:58449349 [GRCh38]
Chr20:57024405 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4206G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV000385224]|Amyotrophic lateral sclerosis type 8 [RCV000290384] |
Chr20:58448441 [GRCh38]
Chr20:57023497 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6117CTGT[1] |
microsatellite |
Amyotrophic Lateral Sclerosis, Dominant [RCV000328637]|Spinal Muscular Atrophy, Dominant [RCV000383258] |
Chr20:58450351..58450354 [GRCh38]
Chr20:57025407..57025410 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*467G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138868]|Amyotrophic lateral sclerosis type 8 [RCV001138869] |
Chr20:58444702 [GRCh38]
Chr20:57019758 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*480T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138870]|Amyotrophic lateral sclerosis type 8 [RCV001138871] |
Chr20:58444715 [GRCh38]
Chr20:57019771 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-137C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138338]|Amyotrophic lateral sclerosis type 8 [RCV001138339] |
Chr20:58389323 [GRCh38]
Chr20:56964379 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.194C>T (p.Ala65Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254560] |
Chr20:58418346 [GRCh38]
Chr20:56993402 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.289A>G (p.Thr97Ala) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138758]|Amyotrophic lateral sclerosis type 8 [RCV001138759]|Amyotrophic lateral sclerosis type 8 [RCV002254561] |
Chr20:58434679 [GRCh38]
Chr20:57009735 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.195C>A (p.Ala65=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254564]|Inborn genetic diseases [RCV002420746] |
Chr20:58418347 [GRCh38]
Chr20:56993403 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.709A>G (p.Ile237Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254558] |
Chr20:58444212 [GRCh38]
Chr20:57019268 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 |
copy number gain |
See cases [RCV000511980] |
Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33 |
likely pathogenic |
| GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 |
copy number gain |
See cases [RCV000510832] |
Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| NM_004738.5(VAPB):c.156C>T (p.Tyr52=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003768115]|not provided [RCV000714163] |
Chr20:58418308 [GRCh38]
Chr20:56993364 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.59-4A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138754]|Amyotrophic lateral sclerosis type 8 [RCV001138755]|Amyotrophic lateral sclerosis type 8 [RCV002254555]|Inborn genetic diseases [RCV002358508]|VAPB-related disorder [RCV003905399]|not provided [RCV000527726]|not specified [RCV005000166] |
Chr20:58418207 [GRCh38]
Chr20:56993263 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.496G>A (p.Val166Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254559]|Inborn genetic diseases [RCV004678776] |
Chr20:58441006 [GRCh38]
Chr20:57016062 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254562] |
Chr20:58440992 [GRCh38]
Chr20:57016048 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.510G>A (p.Met170Ile) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143187]|Amyotrophic lateral sclerosis type 8 [RCV000990320]|Amyotrophic lateral sclerosis type 8 [RCV002254554]|Inborn genetic diseases [RCV002341333]|VAPB-related disorder [RCV003915562]|not provided [RCV001579802] |
Chr20:58441020 [GRCh38]
Chr20:57016076 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) |
copy number gain |
See cases [RCV000512450] |
Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| NM_004738.5(VAPB):c.104C>T (p.Pro35Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254563] |
Chr20:58418256 [GRCh38]
Chr20:56993312 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.174C>T (p.Ser58=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254565]|Inborn genetic diseases [RCV002397227]|VAPB-related disorder [RCV003918033] |
Chr20:58418326 [GRCh38]
Chr20:56993382 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254567]|Amyotrophic lateral sclerosis type 8 [RCV003147532] |
Chr20:58441003 [GRCh38]
Chr20:57016059 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254571] |
Chr20:58418263 [GRCh38]
Chr20:56993319 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.58+5G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254568]|Inborn genetic diseases [RCV002352159] |
Chr20:58389522 [GRCh38]
Chr20:56964578 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254569]|Inborn genetic diseases [RCV002343494] |
Chr20:58441055 [GRCh38]
Chr20:57016111 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 |
copy number gain |
not provided [RCV000741059] |
Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 |
copy number gain |
not provided [RCV000741057] |
Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 |
copy number gain |
not provided [RCV000741058] |
Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33 |
pathogenic |
| NM_004738.5(VAPB):c.105G>A (p.Pro35=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254580]|VAPB-related disorder [RCV004758059] |
Chr20:58418257 [GRCh38]
Chr20:56993313 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.316-128G>A |
single nucleotide variant |
not provided [RCV001539453] |
Chr20:58438817 [GRCh38]
Chr20:57013873 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.-150_-149dup |
duplication |
not provided [RCV001725101] |
Chr20:58389302..58389303 [GRCh38]
Chr20:56964358..56964359 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.59-168G>A |
single nucleotide variant |
not provided [RCV001549744] |
Chr20:58418043 [GRCh38]
Chr20:56993099 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.574-5C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254590]|Inborn genetic diseases [RCV002346170] |
Chr20:58444072 [GRCh38]
Chr20:57019128 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.34C>T (p.Pro12Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254595] |
Chr20:58389493 [GRCh38]
Chr20:56964549 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) |
copy number gain |
not provided [RCV000767669] |
Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33 |
pathogenic |
| NM_004738.5(VAPB):c.58+9C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254588] |
Chr20:58389526 [GRCh38]
Chr20:56964582 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.528G>A (p.Leu176=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254581]|VAPB-related disorder [RCV003908318]|not provided [RCV003432844] |
Chr20:58441038 [GRCh38]
Chr20:57016094 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.21C>G (p.Val7=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254586]|VAPB-related disorder [RCV004758092] |
Chr20:58389480 [GRCh38]
Chr20:56964536 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254574] |
Chr20:58444171 [GRCh38]
Chr20:57019227 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.199A>G (p.Ile67Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254578]|Inborn genetic diseases [RCV002422799] |
Chr20:58418351 [GRCh38]
Chr20:56993407 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.688T>G (p.Leu230Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254576] |
Chr20:58444191 [GRCh38]
Chr20:57019247 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20q13.32(chr20:57009165-57100623)x3 |
copy number gain |
not provided [RCV000846957] |
Chr20:57009165..57100623 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.674T>C (p.Leu225Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254575] |
Chr20:58444177 [GRCh38]
Chr20:57019233 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 |
copy number gain |
not provided [RCV001007098] |
Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33 |
pathogenic |
| NC_000020.10:g.(?_56993257)_(57967907_?)dup |
duplication |
Amyotrophic lateral sclerosis type 8 [RCV004579447] |
Chr20:56993257..57967907 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1905C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136825]|Amyotrophic lateral sclerosis type 8 [RCV001136824] |
Chr20:58446140 [GRCh38]
Chr20:57021196 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2876A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136931]|Amyotrophic lateral sclerosis type 8 [RCV001136932] |
Chr20:58447111 [GRCh38]
Chr20:57022167 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*172A>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136615]|Amyotrophic lateral sclerosis type 8 [RCV001136616] |
Chr20:58444407 [GRCh38]
Chr20:57019463 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2850T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136929]|Amyotrophic lateral sclerosis type 8 [RCV001136930] |
Chr20:58447085 [GRCh38]
Chr20:57022141 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3014C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139178]|Amyotrophic lateral sclerosis type 8 [RCV001139179] |
Chr20:58447249 [GRCh38]
Chr20:57022305 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*995T>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136723]|Amyotrophic lateral sclerosis type 8 [RCV001136722] |
Chr20:58445230 [GRCh38]
Chr20:57020286 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*5005T>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001137260]|Amyotrophic lateral sclerosis type 8 [RCV001137259] |
Chr20:58449240 [GRCh38]
Chr20:57024296 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*2012G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139068]|Amyotrophic lateral sclerosis type 8 [RCV001139069] |
Chr20:58446247 [GRCh38]
Chr20:57021303 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NC_000020.11:g.(?_58389109)_(58389527_?)del |
deletion |
Amyotrophic lateral sclerosis type 8 [RCV002254591] |
Chr20:56964165..56964583 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.212-12T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138756]|Amyotrophic lateral sclerosis type 8 [RCV001138757] |
Chr20:58434590 [GRCh38]
Chr20:57009646 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*436C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138866]|Amyotrophic lateral sclerosis type 8 [RCV001138867] |
Chr20:58444671 [GRCh38]
Chr20:57019727 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.502A>G (p.Lys168Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254594]|Inborn genetic diseases [RCV004963019] |
Chr20:58441012 [GRCh38]
Chr20:57016068 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.43G>A (p.Glu15Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003246090] |
Chr20:58389502 [GRCh38]
Chr20:56964558 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6068T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139616]|Amyotrophic lateral sclerosis type 8 [RCV001139615] |
Chr20:58450303 [GRCh38]
Chr20:57025359 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5479C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001140278]|Amyotrophic lateral sclerosis type 8 [RCV001140277] |
Chr20:58449714 [GRCh38]
Chr20:57024770 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*1022C>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136725]|Amyotrophic lateral sclerosis type 8 [RCV001136724] |
Chr20:58445257 [GRCh38]
Chr20:57020313 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*861T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143302]|Amyotrophic lateral sclerosis type 8 [RCV001143301] |
Chr20:58445096 [GRCh38]
Chr20:57020152 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.93G>T (p.Lys31Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003106627] |
Chr20:58418245 [GRCh38]
Chr20:56993301 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.315+319C>G |
single nucleotide variant |
not provided [RCV001669098] |
Chr20:58435024 [GRCh38]
Chr20:57010080 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.574-96A>T |
single nucleotide variant |
not provided [RCV001592284] |
Chr20:58443981 [GRCh38]
Chr20:57019037 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.315+220del |
deletion |
not provided [RCV001710602] |
Chr20:58434922 [GRCh38]
Chr20:57009978 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*214_*215insAG |
insertion |
not provided [RCV001613737] |
Chr20:58444449..58444450 [GRCh38]
Chr20:57019505..57019506 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.59-49C>G |
single nucleotide variant |
not provided [RCV001571000] |
Chr20:58418162 [GRCh38]
Chr20:56993218 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.333G>A (p.Pro111=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254589]|VAPB-related disorder [RCV003935787] |
Chr20:58438962 [GRCh38]
Chr20:57014018 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*5453C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001140275]|Amyotrophic lateral sclerosis type 8 [RCV001140276] |
Chr20:58449688 [GRCh38]
Chr20:57024744 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.315A>G (p.Val105=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254603]|Inborn genetic diseases [RCV002322080] |
Chr20:58434705 [GRCh38]
Chr20:57009761 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.*2592G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141683]|Amyotrophic lateral sclerosis type 8 [RCV001141682] |
Chr20:58446827 [GRCh38]
Chr20:57021883 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.*382G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138865]|Amyotrophic lateral sclerosis type 8 [RCV001138864] |
Chr20:58444617 [GRCh38]
Chr20:57019673 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2350A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139070]|Amyotrophic lateral sclerosis type 8 [RCV001139071] |
Chr20:58446585 [GRCh38]
Chr20:57021641 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3701C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139280]|Amyotrophic lateral sclerosis type 8 [RCV001139279] |
Chr20:58447936 [GRCh38]
Chr20:57022992 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4374A>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139388]|Amyotrophic lateral sclerosis type 8 [RCV001139387] |
Chr20:58448609 [GRCh38]
Chr20:57023665 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-166G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143078]|Amyotrophic lateral sclerosis type 8 [RCV001143077] |
Chr20:58389294 [GRCh38]
Chr20:56964350 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*774G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143300]|Amyotrophic lateral sclerosis type 8 [RCV001143299] |
Chr20:58445009 [GRCh38]
Chr20:57020065 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1641G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143402]|Amyotrophic lateral sclerosis type 8 [RCV001143403] |
Chr20:58445876 [GRCh38]
Chr20:57020932 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*5283C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139513]|Amyotrophic lateral sclerosis type 8 [RCV001139514] |
Chr20:58449518 [GRCh38]
Chr20:57024574 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*203_*204insTGAGGGGGAAAC |
insertion |
not provided [RCV001719234] |
Chr20:58444438..58444439 [GRCh38]
Chr20:57019494..57019495 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.396+128dup |
duplication |
not provided [RCV001570733] |
Chr20:58439145..58439146 [GRCh38]
Chr20:57014201..57014202 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.-149del |
deletion |
not provided [RCV001558601] |
Chr20:58389303 [GRCh38]
Chr20:56964359 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.397-185G>A |
single nucleotide variant |
not provided [RCV001658411] |
Chr20:58440722 [GRCh38]
Chr20:57015778 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*206_*207del |
deletion |
not provided [RCV001661066] |
Chr20:58444441..58444442 [GRCh38]
Chr20:57019497..57019498 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.315+138A>G |
single nucleotide variant |
not provided [RCV001619232] |
Chr20:58434843 [GRCh38]
Chr20:57009899 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*211_*213del |
deletion |
not provided [RCV001719235] |
Chr20:58444446..58444448 [GRCh38]
Chr20:57019502..57019504 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141335]|Amyotrophic lateral sclerosis type 8 [RCV001141336]|Amyotrophic lateral sclerosis type 8 [RCV002254600]|not provided [RCV004597964] |
Chr20:58434700 [GRCh38]
Chr20:57009756 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*574G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141454]|Amyotrophic lateral sclerosis type 8 [RCV001141455] |
Chr20:58444809 [GRCh38]
Chr20:57019865 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*624C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141456]|Amyotrophic lateral sclerosis type 8 [RCV001141457] |
Chr20:58444859 [GRCh38]
Chr20:57019915 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1563G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143400]|Amyotrophic lateral sclerosis type 8 [RCV001143401] |
Chr20:58445798 [GRCh38]
Chr20:57020854 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5771T>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001142118]|Amyotrophic lateral sclerosis type 8 [RCV001142117] |
Chr20:58450006 [GRCh38]
Chr20:57025062 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3305C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143602]|Amyotrophic lateral sclerosis type 8 [RCV001143603] |
Chr20:58447540 [GRCh38]
Chr20:57022596 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3968C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143703]|Amyotrophic lateral sclerosis type 8 [RCV001143704] |
Chr20:58448203 [GRCh38]
Chr20:57023259 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*4929C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143823]|Amyotrophic lateral sclerosis type 8 [RCV001143822] |
Chr20:58449164 [GRCh38]
Chr20:57024220 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3643G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001137033]|Amyotrophic lateral sclerosis type 8 [RCV001137032] |
Chr20:58447878 [GRCh38]
Chr20:57022934 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5851C>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139614]|Amyotrophic lateral sclerosis type 8 [RCV001139613] |
Chr20:58450086 [GRCh38]
Chr20:57025142 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*5616T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001142116]|Amyotrophic lateral sclerosis type 8 [RCV001142115] |
Chr20:58449851 [GRCh38]
Chr20:57024907 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.4(VAPB):c.-349G>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141237]|Amyotrophic lateral sclerosis type 8 [RCV001141236] |
Chr20:58389111 [GRCh38]
Chr20:56964167 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6462G>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001142236]|Amyotrophic lateral sclerosis type 8 [RCV001142235] |
Chr20:58450697 [GRCh38]
Chr20:57025753 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3738A>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139282]|Amyotrophic lateral sclerosis type 8 [RCV001139281] |
Chr20:58447973 [GRCh38]
Chr20:57023029 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 |
copy number gain |
not provided [RCV001007097] |
Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33 |
pathogenic |
| NM_004738.5(VAPB):c.211+238C>T |
single nucleotide variant |
not provided [RCV001611582] |
Chr20:58418601 [GRCh38]
Chr20:56993657 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.58+285C>T |
single nucleotide variant |
not provided [RCV001683766] |
Chr20:58389802 [GRCh38]
Chr20:56964858 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.14A>G (p.Glu5Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254592] |
Chr20:58389473 [GRCh38]
Chr20:56964529 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-150C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001138336]|Amyotrophic lateral sclerosis type 8 [RCV001138337] |
Chr20:58389310 [GRCh38]
Chr20:56964366 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.451C>T (p.Pro151Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254596] |
Chr20:58440961 [GRCh38]
Chr20:57016017 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2885G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136934]|Amyotrophic lateral sclerosis type 8 [RCV001136933] |
Chr20:58447120 [GRCh38]
Chr20:57022176 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*4394C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139389]|Amyotrophic lateral sclerosis type 8 [RCV001139390] |
Chr20:58448629 [GRCh38]
Chr20:57023685 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1295T>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141576]|Amyotrophic lateral sclerosis type 8 [RCV001141575] |
Chr20:58445530 [GRCh38]
Chr20:57020586 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4637G>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001142008]|Amyotrophic lateral sclerosis type 8 [RCV001142007] |
Chr20:58448872 [GRCh38]
Chr20:57023928 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5612C>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001142114]|Amyotrophic lateral sclerosis type 8 [RCV001142113] |
Chr20:58449847 [GRCh38]
Chr20:57024903 [GRCh37]
Chr20:20q13.32 |
benign|likely benign |
| NM_004738.5(VAPB):c.587T>C (p.Leu196Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254597] |
Chr20:58444090 [GRCh38]
Chr20:57019146 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254602] |
Chr20:58444158 [GRCh38]
Chr20:57019214 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*6087A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001139617]|Amyotrophic lateral sclerosis type 8 [RCV001139618] |
Chr20:58450322 [GRCh38]
Chr20:57025378 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2733G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143503]|Amyotrophic lateral sclerosis type 8 [RCV001143504] |
Chr20:58446968 [GRCh38]
Chr20:57022024 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*4023A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001143706]|Amyotrophic lateral sclerosis type 8 [RCV001143705] |
Chr20:58448258 [GRCh38]
Chr20:57023314 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*5500A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001140280]|Amyotrophic lateral sclerosis type 8 [RCV001140279] |
Chr20:58449735 [GRCh38]
Chr20:57024791 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*2571G>A |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141681]|Amyotrophic lateral sclerosis type 8 [RCV001141680] |
Chr20:58446806 [GRCh38]
Chr20:57021862 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1951A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136827]|Amyotrophic lateral sclerosis type 8 [RCV001136826] |
Chr20:58446186 [GRCh38]
Chr20:57021242 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*3001T>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001136936]|Amyotrophic lateral sclerosis type 8 [RCV001136935] |
Chr20:58447236 [GRCh38]
Chr20:57022292 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.4(VAPB):c.-322G>C |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141238]|Amyotrophic lateral sclerosis type 8 [RCV001141239] |
Chr20:58389138 [GRCh38]
Chr20:56964194 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.*6631G>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001137498]|Amyotrophic lateral sclerosis type 8 [RCV001137497] |
Chr20:58450866 [GRCh38]
Chr20:57025922 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.*1347A>G |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001141577]|Amyotrophic lateral sclerosis type 8 [RCV001141578] |
Chr20:58445582 [GRCh38]
Chr20:57020638 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*6404C>T |
single nucleotide variant |
Adult-onset proximal spinal muscular atrophy, autosomal dominant [RCV001142233]|Amyotrophic lateral sclerosis type 8 [RCV001142234] |
Chr20:58450639 [GRCh38]
Chr20:57025695 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.457G>A (p.Val153Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254608] |
Chr20:58440967 [GRCh38]
Chr20:57016023 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254606] |
Chr20:58444162 [GRCh38]
Chr20:57019218 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.212-228G>A |
single nucleotide variant |
not provided [RCV001538381] |
Chr20:58434374 [GRCh38]
Chr20:57009430 [GRCh37]
Chr20:20q13.32 |
benign |
| GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 |
copy number gain |
not provided [RCV001537917] |
Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33 |
pathogenic |
| NC_000020.10:g.(?_56993257)_(57967907_?)dup |
duplication |
Amyotrophic lateral sclerosis type 8 [RCV001324796] |
Chr20:56993257..57967907 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.677C>T (p.Ala226Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254639] |
Chr20:58444180 [GRCh38]
Chr20:57019236 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254635] |
Chr20:58441028 [GRCh38]
Chr20:57016084 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254618]|not provided [RCV001531355] |
Chr20:58389494 [GRCh38]
Chr20:56964550 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.421A>G (p.Ile141Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254616] |
Chr20:58440931 [GRCh38]
Chr20:57015987 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254633] |
Chr20:58444138 [GRCh38]
Chr20:57019194 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254646] |
Chr20:58389497 [GRCh38]
Chr20:56964553 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.622A>G (p.Ile208Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254638] |
Chr20:58444125 [GRCh38]
Chr20:57019181 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254642] |
Chr20:58434636 [GRCh38]
Chr20:57009692 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NC_000020.10:g.(?_56964165)_(56964583_?)del |
deletion |
Amyotrophic lateral sclerosis type 8 [RCV001295827] |
Chr20:56964165..56964583 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002547661]|Inborn genetic diseases [RCV004681139]|not provided [RCV001357371] |
Chr20:58441045 [GRCh38]
Chr20:57016101 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.651A>G (p.Glu217=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254658]|Inborn genetic diseases [RCV004968166] |
Chr20:58444154 [GRCh38]
Chr20:57019210 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.375G>A (p.Leu125=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254663] |
Chr20:58439004 [GRCh38]
Chr20:57014060 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.465G>A (p.Lys155=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254670] |
Chr20:58440975 [GRCh38]
Chr20:57016031 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254669] |
Chr20:58440996 [GRCh38]
Chr20:57016052 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.78C>T (p.Val26=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254653] |
Chr20:58418230 [GRCh38]
Chr20:56993286 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.252T>C (p.Ser84=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254651] |
Chr20:58434642 [GRCh38]
Chr20:57009698 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.*200_*201del |
deletion |
not provided [RCV001533946] |
Chr20:58444435..58444436 [GRCh38]
Chr20:57019491..57019492 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.163A>C (p.Arg55=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254657] |
Chr20:58418315 [GRCh38]
Chr20:56993371 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NC_000020.11:g.58389211GTGC[8] |
microsatellite |
not provided [RCV001713396] |
Chr20:58389207..58389208 [GRCh38]
Chr20:56964263..56964264 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.189A>C (p.Ala63=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254662] |
Chr20:58418341 [GRCh38]
Chr20:56993397 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NC_000020.11:g.58389041A>G |
single nucleotide variant |
not provided [RCV001539988] |
Chr20:58389041 [GRCh38]
Chr20:56964097 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.681G>A (p.Leu227=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254671] |
Chr20:58444184 [GRCh38]
Chr20:57019240 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.111C>T (p.Asp37=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254668] |
Chr20:58418263 [GRCh38]
Chr20:56993319 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.597G>A (p.Arg199=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254665] |
Chr20:58444100 [GRCh38]
Chr20:57019156 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.643G>A (p.Gly215Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004040286]|not provided [RCV001772932] |
Chr20:58444146 [GRCh38]
Chr20:57019202 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val) |
indel |
Amyotrophic lateral sclerosis type 8 [RCV002254726]|not provided [RCV001787650] |
Chr20:58441012..58441013 [GRCh38]
Chr20:57016068..57016069 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.629C>A (p.Ala210Glu) |
single nucleotide variant |
not provided [RCV001758272] |
Chr20:58444132 [GRCh38]
Chr20:57019188 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.82A>G (p.Thr28Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254734] |
Chr20:58418234 [GRCh38]
Chr20:56993290 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.13G>A (p.Glu5Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254730]|Inborn genetic diseases [RCV004968402] |
Chr20:58389472 [GRCh38]
Chr20:56964528 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.209C>T (p.Ser70Phe) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254740] |
Chr20:58418361 [GRCh38]
Chr20:56993417 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.532G>A (p.Gly178Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254731] |
Chr20:58441042 [GRCh38]
Chr20:57016098 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.224C>G (p.Pro75Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254736] |
Chr20:58434614 [GRCh38]
Chr20:57009670 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254737]|Inborn genetic diseases [RCV004044283] |
Chr20:58434623 [GRCh38]
Chr20:57009679 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) |
copy number gain |
not specified [RCV002052713] |
Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33 |
pathogenic |
| GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365) |
copy number loss |
not specified [RCV002052712] |
Chr20:55292205..57866365 [GRCh37]
Chr20:20q13.31-13.32 |
pathogenic |
| NM_004738.5(VAPB):c.589C>T (p.Arg197Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254738] |
Chr20:58444092 [GRCh38]
Chr20:57019148 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.550C>T (p.Arg184Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254732]|Inborn genetic diseases [RCV003166941] |
Chr20:58441060 [GRCh38]
Chr20:57016116 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.677C>A (p.Ala226Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254739] |
Chr20:58444180 [GRCh38]
Chr20:57019236 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.472A>C (p.Ser158Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254733]|Inborn genetic diseases [RCV002334816] |
Chr20:58440982 [GRCh38]
Chr20:57016038 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.86A>G (p.Asn29Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254745] |
Chr20:58418238 [GRCh38]
Chr20:56993294 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.85A>G (p.Asn29Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254729] |
Chr20:58418237 [GRCh38]
Chr20:56993293 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NC_000020.10:g.(?_54823900)_(57899514_?)del |
deletion |
not provided [RCV001900543] |
Chr20:54823900..57899514 [GRCh37]
Chr20:20q13.2-13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.110A>C (p.Asp37Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254735] |
Chr20:58418262 [GRCh38]
Chr20:56993318 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.601A>T (p.Thr201Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254744] |
Chr20:58444104 [GRCh38]
Chr20:57019160 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.564G>A (p.Lys188=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254776] |
Chr20:58441074 [GRCh38]
Chr20:57016130 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.574-14G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254775] |
Chr20:58444063 [GRCh38]
Chr20:57019119 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.315+15C>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254783] |
Chr20:58434720 [GRCh38]
Chr20:57009776 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.58+13G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254751] |
Chr20:58389530 [GRCh38]
Chr20:56964586 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.211+19G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254785] |
Chr20:58418382 [GRCh38]
Chr20:56993438 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.699C>T (p.Ile233=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254747] |
Chr20:58444202 [GRCh38]
Chr20:57019258 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.378A>G (p.Pro126=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254786] |
Chr20:58439007 [GRCh38]
Chr20:57014063 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.316-17A>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254750] |
Chr20:58438928 [GRCh38]
Chr20:57013984 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.397-16A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254767] |
Chr20:58440891 [GRCh38]
Chr20:57015947 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.117T>C (p.Asn39=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254754] |
Chr20:58418269 [GRCh38]
Chr20:56993325 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.573+18G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254779] |
Chr20:58441101 [GRCh38]
Chr20:57016157 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.316-17A>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002254746]|not provided [RCV004717865] |
Chr20:58438928 [GRCh38]
Chr20:57013984 [GRCh37]
Chr20:20q13.32 |
benign |
| NC_000020.10:g.(?_57009638)_(57019291_?)dup |
duplication |
Amyotrophic lateral sclerosis type 8 [RCV003113591] |
Chr20:57009638..57019291 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.114_118del (p.Asn39fs) |
deletion |
Amyotrophic lateral sclerosis type 8 [RCV003775608]|Inborn genetic diseases [RCV002451951] |
Chr20:58418265..58418269 [GRCh38]
Chr20:56993321..56993325 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.573+41G>A |
single nucleotide variant |
not provided [RCV002285658] |
Chr20:58441124 [GRCh38]
Chr20:57016180 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.511G>A (p.Glu171Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002336056] |
Chr20:58441021 [GRCh38]
Chr20:57016077 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.650A>G (p.Glu217Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002356290] |
Chr20:58444153 [GRCh38]
Chr20:57019209 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.167C>G (p.Pro56Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003097104]|Inborn genetic diseases [RCV002405998] |
Chr20:58418319 [GRCh38]
Chr20:56993375 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.116A>T (p.Asn39Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002297901] |
Chr20:58418268 [GRCh38]
Chr20:56993324 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.700G>A (p.Val234Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003098447]|Inborn genetic diseases [RCV002364823]|VAPB-related disorder [RCV004758229] |
Chr20:58444203 [GRCh38]
Chr20:57019259 [GRCh37]
Chr20:20q13.32 |
likely benign|uncertain significance |
| NM_004738.5(VAPB):c.403G>A (p.Val135Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002375772] |
Chr20:58440913 [GRCh38]
Chr20:57015969 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.643G>C (p.Gly215Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002361787] |
Chr20:58444146 [GRCh38]
Chr20:57019202 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.671T>C (p.Leu224Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002375924] |
Chr20:58444174 [GRCh38]
Chr20:57019230 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.524G>A (p.Arg175Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002344349] |
Chr20:58441034 [GRCh38]
Chr20:57016090 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.610A>G (p.Ser204Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002296609] |
Chr20:58444113 [GRCh38]
Chr20:57019169 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.520A>G (p.Lys174Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002340763] |
Chr20:58441030 [GRCh38]
Chr20:57016086 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.109G>C (p.Asp37His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002303015] |
Chr20:58418261 [GRCh38]
Chr20:56993317 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.184G>A (p.Asp62Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005227737]|Inborn genetic diseases [RCV002412989] |
Chr20:58418336 [GRCh38]
Chr20:56993392 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.301G>C (p.Asp101His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002904326] |
Chr20:58434691 [GRCh38]
Chr20:57009747 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.305T>C (p.Met102Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002882254] |
Chr20:58434695 [GRCh38]
Chr20:57009751 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.242A>G (p.Asn81Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003075098] |
Chr20:58434632 [GRCh38]
Chr20:57009688 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.59-11_59-10del |
microsatellite |
Amyotrophic lateral sclerosis type 8 [RCV003095472] |
Chr20:58418198..58418199 [GRCh38]
Chr20:56993254..56993255 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.384G>A (p.Glu128=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003076189] |
Chr20:58439013 [GRCh38]
Chr20:57014069 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.367T>C (p.Phe123Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002793553] |
Chr20:58438996 [GRCh38]
Chr20:57014052 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.640A>G (p.Thr214Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002914138] |
Chr20:58444143 [GRCh38]
Chr20:57019199 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.719A>G (p.Lys240Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002706679] |
Chr20:58444222 [GRCh38]
Chr20:57019278 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT |
insertion |
Amyotrophic lateral sclerosis type 8 [RCV002889595] |
Chr20:58434582..58434583 [GRCh38]
Chr20:57009638..57009639 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.434C>T (p.Ala145Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002637403] |
Chr20:58440944 [GRCh38]
Chr20:57016000 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.58+18C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002909859] |
Chr20:58389535 [GRCh38]
Chr20:56964591 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.402T>C (p.Asp134=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002998686] |
Chr20:58440912 [GRCh38]
Chr20:57015968 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.58+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002888638] |
Chr20:58389520 [GRCh38]
Chr20:56964576 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.340C>G (p.Leu114Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002912655] |
Chr20:58438969 [GRCh38]
Chr20:57014025 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.149G>T (p.Arg50Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002927347] |
Chr20:58418301 [GRCh38]
Chr20:56993357 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.229G>A (p.Asp77Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002740056] |
Chr20:58434619 [GRCh38]
Chr20:57009675 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.563dup (p.Gln189fs) |
duplication |
Amyotrophic lateral sclerosis type 8 [RCV002949320] |
Chr20:58441071..58441072 [GRCh38]
Chr20:57016127..57016128 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.178A>G (p.Ile60Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002953233] |
Chr20:58418330 [GRCh38]
Chr20:56993386 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.727T>G (p.Leu243Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002949858] |
Chr20:58444230 [GRCh38]
Chr20:57019286 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.59-20G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002949123] |
Chr20:58418191 [GRCh38]
Chr20:56993247 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.454A>G (p.Ile152Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003777619]|Inborn genetic diseases [RCV002661784] |
Chr20:58440964 [GRCh38]
Chr20:57016020 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.31G>C (p.Glu11Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003024321] |
Chr20:58389490 [GRCh38]
Chr20:56964546 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.309A>G (p.Glu103=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002766736] |
Chr20:58434699 [GRCh38]
Chr20:57009755 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.172del (p.Ser58fs) |
deletion |
not provided [RCV002508708] |
Chr20:58418324 [GRCh38]
Chr20:56993380 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.455T>C (p.Ile152Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002623555] |
Chr20:58440965 [GRCh38]
Chr20:57016021 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp) |
indel |
Amyotrophic lateral sclerosis type 8 [RCV002875824] |
Chr20:58418318..58418319 [GRCh38]
Chr20:56993374..56993375 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.193G>A (p.Ala65Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002770131] |
Chr20:58418345 [GRCh38]
Chr20:56993401 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.151A>G (p.Arg51Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003031119] |
Chr20:58418303 [GRCh38]
Chr20:56993359 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.563A>G (p.Lys188Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003088046] |
Chr20:58441073 [GRCh38]
Chr20:57016129 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.680T>C (p.Leu227Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002900036] |
Chr20:58444183 [GRCh38]
Chr20:57019239 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.547C>T (p.Leu183=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003063658] |
Chr20:58441057 [GRCh38]
Chr20:57016113 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.602C>T (p.Thr201Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002834882] |
Chr20:58444105 [GRCh38]
Chr20:57019161 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.256C>G (p.His86Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003046802] |
Chr20:58434646 [GRCh38]
Chr20:57009702 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.99C>T (p.Gly33=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002628794] |
Chr20:58418251 [GRCh38]
Chr20:56993307 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.59-3C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003069669] |
Chr20:58418208 [GRCh38]
Chr20:56993264 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.573+16C>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003069318] |
Chr20:58441099 [GRCh38]
Chr20:57016155 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.542A>G (p.Gln181Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV002610094] |
Chr20:58441052 [GRCh38]
Chr20:57016108 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 |
copy number gain |
See cases [RCV003329549] |
Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33 |
uncertain significance |
| GRCh37/hg19 20q13.32(chr20:56888134-57013099)x1 |
copy number loss |
not provided [RCV003483365] |
Chr20:56888134..57013099 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.438A>G (p.Ser146=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003791416] |
Chr20:58440948 [GRCh38]
Chr20:57016004 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003793556] |
Chr20:58439014 [GRCh38]
Chr20:57014070 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.246G>A (p.Glu82=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003797738] |
Chr20:58434636 [GRCh38]
Chr20:57009692 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.396+16G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003788594] |
Chr20:58439041 [GRCh38]
Chr20:57014097 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.592A>T (p.Met198Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003787321] |
Chr20:58444095 [GRCh38]
Chr20:57019151 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.122_123del (p.Cys41fs) |
microsatellite |
Amyotrophic lateral sclerosis type 8 [RCV003805702] |
Chr20:58418269..58418270 [GRCh38]
Chr20:56993325..56993326 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.691T>C (p.Phe231Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003784181] |
Chr20:58444194 [GRCh38]
Chr20:57019250 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.69C>T (p.Thr23=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003783072] |
Chr20:58418221 [GRCh38]
Chr20:56993277 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.24G>A (p.Leu8=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003790848] |
Chr20:58389483 [GRCh38]
Chr20:56964539 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.397-12G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003784700] |
Chr20:58440895 [GRCh38]
Chr20:57015951 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.315+14G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003804626] |
Chr20:58434719 [GRCh38]
Chr20:57009775 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.396+21_396+23del |
deletion |
Amyotrophic lateral sclerosis type 8 [RCV003795714] |
Chr20:58439044..58439046 [GRCh38]
Chr20:57014100..57014102 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.316-3del |
deletion |
Amyotrophic lateral sclerosis type 8 [RCV003782841] |
Chr20:58438939 [GRCh38]
Chr20:57013995 [GRCh37]
Chr20:20q13.32 |
benign |
| NM_004738.5(VAPB):c.58+10A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003783567] |
Chr20:58389527 [GRCh38]
Chr20:56964583 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.397-17C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003784182] |
Chr20:58440890 [GRCh38]
Chr20:57015946 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.315+14G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003781131] |
Chr20:58434719 [GRCh38]
Chr20:57009775 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.159del (p.Cys53fs) |
deletion |
Amyotrophic lateral sclerosis type 8 [RCV003805012] |
Chr20:58418311 [GRCh38]
Chr20:56993367 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.512A>T (p.Glu171Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003789388] |
Chr20:58441022 [GRCh38]
Chr20:57016078 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.344T>C (p.Met115Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003796037] |
Chr20:58438973 [GRCh38]
Chr20:57014029 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.70G>A (p.Asp24Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003780190] |
Chr20:58418222 [GRCh38]
Chr20:56993278 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.59-16_59-15del |
microsatellite |
Amyotrophic lateral sclerosis type 8 [RCV003785463] |
Chr20:58418192..58418193 [GRCh38]
Chr20:56993248..56993249 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.211+11A>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003787175] |
Chr20:58418374 [GRCh38]
Chr20:56993430 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.396+9A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003782088] |
Chr20:58439034 [GRCh38]
Chr20:57014090 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.16C>G (p.Gln6Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003792320] |
Chr20:58389475 [GRCh38]
Chr20:56964531 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.59-11T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003792560] |
Chr20:58418200 [GRCh38]
Chr20:56993256 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.574-15C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003788121] |
Chr20:58444062 [GRCh38]
Chr20:57019118 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.704G>T (p.Gly235Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003800934] |
Chr20:58444207 [GRCh38]
Chr20:57019263 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.460T>A (p.Ser154Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003809025] |
Chr20:58440970 [GRCh38]
Chr20:57016026 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.207A>G (p.Val69=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003810088] |
Chr20:58418359 [GRCh38]
Chr20:56993415 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.283G>T (p.Ala95Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003799942] |
Chr20:58434673 [GRCh38]
Chr20:57009729 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.354A>C (p.Lys118Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003810588] |
Chr20:58438983 [GRCh38]
Chr20:57014039 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.373T>A (p.Leu125Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003798574] |
Chr20:58439002 [GRCh38]
Chr20:57014058 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.574-7C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003798358] |
Chr20:58444070 [GRCh38]
Chr20:57019126 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.188C>T (p.Ala63Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003799635] |
Chr20:58418340 [GRCh38]
Chr20:56993396 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.258C>A (p.His86Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003800427] |
Chr20:58434648 [GRCh38]
Chr20:57009704 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.63C>G (p.Pro21=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003815559] |
Chr20:58418215 [GRCh38]
Chr20:56993271 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.121T>C (p.Cys41Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003799774] |
Chr20:58418273 [GRCh38]
Chr20:56993329 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.58+8C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003797938] |
Chr20:58389525 [GRCh38]
Chr20:56964581 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.396+6T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003808238] |
Chr20:58439031 [GRCh38]
Chr20:57014087 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.376C>G (p.Pro126Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003804010] |
Chr20:58439005 [GRCh38]
Chr20:57014061 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.283G>C (p.Ala95Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV003803008] |
Chr20:58434673 [GRCh38]
Chr20:57009729 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.364G>A (p.Val122Met) |
single nucleotide variant |
not provided [RCV003993150] |
Chr20:58438993 [GRCh38]
Chr20:57014049 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.575A>G (p.Glu192Gly) |
single nucleotide variant |
VAPB-related disorder [RCV003969532] |
Chr20:58444078 [GRCh38]
Chr20:57019134 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-5G>A |
single nucleotide variant |
VAPB-related disorder [RCV004758476] |
Chr20:58389455 [GRCh38]
Chr20:56964511 [GRCh37]
Chr20:20q13.32 |
likely benign |
| GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) |
copy number gain |
20q13.13qter duplication [RCV004555205] |
Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33 |
pathogenic |
| NM_004738.5(VAPB):c.17A>G (p.Gln6Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004480059] |
Chr20:58389476 [GRCh38]
Chr20:56964532 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.668G>A (p.Arg223Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004480060] |
Chr20:58444171 [GRCh38]
Chr20:57019227 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.77T>C (p.Val26Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004480061] |
Chr20:58418229 [GRCh38]
Chr20:56993285 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NC_000020.10:g.(?_56964516)_(57019291_?)del |
deletion |
Amyotrophic lateral sclerosis type 8 [RCV004579446] |
Chr20:56964516..57019291 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NC_000020.10:g.(?_57013981)_(57019291_?)dup |
duplication |
Amyotrophic lateral sclerosis type 8 [RCV004579448] |
Chr20:57013981..57019291 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.487G>A (p.Asp163Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005218299]|not provided [RCV004772589] |
Chr20:58440997 [GRCh38]
Chr20:57016053 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.113G>A (p.Arg38Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005221025]|VAPB-related disorder [RCV004758496] |
Chr20:58418265 [GRCh38]
Chr20:56993321 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.-7A>G |
single nucleotide variant |
VAPB-related disorder [RCV004758493] |
Chr20:58389453 [GRCh38]
Chr20:56964509 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.312dup (p.Val105fs) |
duplication |
VAPB-related disorder [RCV004758331] |
Chr20:58434701..58434702 [GRCh38]
Chr20:57009757..57009758 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.608A>T (p.Gln203Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004972059] |
Chr20:58444111 [GRCh38]
Chr20:57019167 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.503A>T (p.Lys168Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004972060] |
Chr20:58441013 [GRCh38]
Chr20:57016069 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.315+15C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005213143] |
Chr20:58434720 [GRCh38]
Chr20:57009776 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.574-3T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005227156] |
Chr20:58444074 [GRCh38]
Chr20:57019130 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.397-18T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005224225] |
Chr20:58440889 [GRCh38]
Chr20:57015945 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.58+14G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005223457] |
Chr20:58389531 [GRCh38]
Chr20:56964587 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.553GAG[1] (p.Glu186del) |
microsatellite |
Amyotrophic lateral sclerosis type 8 [RCV005221536] |
Chr20:58441062..58441064 [GRCh38]
Chr20:57016118..57016120 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.291T>G (p.Thr97=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005217827] |
Chr20:58434681 [GRCh38]
Chr20:57009737 [GRCh37]
Chr20:20q13.32 |
likely benign |
| NM_004738.5(VAPB):c.397-3C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005218461] |
Chr20:58440904 [GRCh38]
Chr20:57015960 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.422T>C (p.Ile141Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005224293] |
Chr20:58440932 [GRCh38]
Chr20:57015988 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.212-1G>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005215474] |
Chr20:58434601 [GRCh38]
Chr20:57009657 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.443C>G (p.Thr148Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005223860] |
Chr20:58440953 [GRCh38]
Chr20:57016009 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.722T>C (p.Ile241Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005220482] |
Chr20:58444225 [GRCh38]
Chr20:57019281 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.335A>C (p.Glu112Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005220636] |
Chr20:58438964 [GRCh38]
Chr20:57014020 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.573+3A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005217425] |
Chr20:58441086 [GRCh38]
Chr20:57016142 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.601A>G (p.Thr201Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005222127] |
Chr20:58444104 [GRCh38]
Chr20:57019160 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
| NM_004738.5(VAPB):c.292G>T (p.Asp98Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 8 [RCV005217716] |
Chr20:58434682 [GRCh38]
Chr20:57009738 [GRCh37]
Chr20:20q13.32 |
uncertain significance |
