| NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783034]|Spastic paraplegia [RCV000528752]|not provided [RCV001508701] |
Chr13:23337533 [GRCh38]
Chr13:23911672 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834756]|Spastic paraplegia [RCV000552873] |
Chr13:23355129 [GRCh38]
Chr13:23929268 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12585A>G (p.Gly4195=) |
single nucleotide variant |
Spastic paraplegia [RCV001428465]|not specified [RCV000518564] |
Chr13:23331291 [GRCh38]
Chr13:23905430 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783015]|Spastic paraplegia [RCV001412104]|not specified [RCV000516513] |
Chr13:23330837 [GRCh38]
Chr13:23904976 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8356G>C (p.Asp2786His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834671]|Spastic paraplegia [RCV002525075]|not specified [RCV000516762] |
Chr13:23335520 [GRCh38]
Chr13:23909659 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001271971]|Spastic paraplegia [RCV001409443]|not specified [RCV000518256] |
Chr13:23355093 [GRCh38]
Chr13:23929232 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8693G>A (p.Arg2898His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274928]|Inborn genetic diseases [RCV002525291]|Spastic paraplegia [RCV000530318] |
Chr13:23335183 [GRCh38]
Chr13:23909322 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276938]|Spastic paraplegia [RCV002527521]|not provided [RCV000516945] |
Chr13:23337610 [GRCh38]
Chr13:23911749 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113533]|Spastic paraplegia [RCV000560872]|not specified [RCV000518073] |
Chr13:23334326 [GRCh38]
Chr13:23908465 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834755]|Spastic paraplegia [RCV000527900] |
Chr13:23330302 [GRCh38]
Chr13:23904441 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276939]|Spastic paraplegia [RCV002060257]|not specified [RCV000518824] |
Chr13:23337792 [GRCh38]
Chr13:23911931 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3346G>T (p.Gly1116Cys) |
single nucleotide variant |
not specified [RCV000517613] |
Chr13:23340530 [GRCh38]
Chr13:23914669 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111736]|Hereditary spastic paraplegia [RCV001848895]|Spastic paraplegia [RCV001080771]|not provided [RCV000517696] |
Chr13:23337540 [GRCh38]
Chr13:23911679 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7737G>A (p.Lys2579=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848896]|Spastic paraplegia [RCV001085238]|not provided [RCV001553284]|not specified [RCV000516324] |
Chr13:23336139 [GRCh38]
Chr13:23910278 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.9399A>G (p.Lys3133=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274923]|Hereditary spastic paraplegia [RCV001848925]|Spastic paraplegia [RCV000546063]|not provided [RCV003403262] |
Chr13:23334477 [GRCh38]
Chr13:23908616 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5151dup (p.Ser1718fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV001276945]|Hereditary spastic paraplegia [RCV001848893]|Inborn genetic diseases [RCV002527518]|Spastic paraplegia [RCV001035595]|not provided [RCV000517322] |
Chr13:23338724..23338725 [GRCh38]
Chr13:23912863..23912864 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003467200]|not provided [RCV000144427] |
Chr13:23365209 [GRCh38]
Chr13:23939348 [GRCh37]
Chr13:13q12.12 |
pathogenic|not provided |
| NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) |
deletion |
not provided [RCV000144428] |
Chr13:23338612..23338613 [GRCh38]
Chr13:23912751..23912752 [GRCh37]
Chr13:13q12.12 |
not provided |
| NM_014363.6(SACS):c.3585del (p.Ile1195fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000005850] |
Chr13:23340291 [GRCh38]
Chr13:23914430 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| SACS, 1-BP INS, 1155A |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000005851] |
Chr13:13q12 |
pathogenic |
| NM_014363.6(SACS):c.4033dup (p.Gln1345fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000005853] |
Chr13:23339842..23339843 [GRCh38]
Chr13:23913981..23913982 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000005856] |
Chr13:23355418..23355427 [GRCh38]
Chr13:23929557..23929566 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2060del (p.Asp687fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000005857] |
Chr13:23354552 [GRCh38]
Chr13:23928691 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys) |
single nucleotide variant |
not provided [RCV001507813] |
Chr13:23332448 [GRCh38]
Chr13:23906587 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) |
single nucleotide variant |
not provided [RCV000728927] |
Chr13:23339129 [GRCh38]
Chr13:23913268 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2551G>T (p.Val851Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834757]|Hereditary spastic paraplegia [RCV001848921]|Spastic paraplegia [RCV000545527] |
Chr13:23341325 [GRCh38]
Chr13:23915464 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834670]|Spastic paraplegia [RCV002527520]|not provided [RCV000516715] |
Chr13:23358346 [GRCh38]
Chr13:23932485 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765120]|Spastic paraplegia [RCV002525074]|not specified [RCV000516833] |
Chr13:23335561 [GRCh38]
Chr13:23909700 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275188]|Spastic paraplegia [RCV001085314]|not provided [RCV000676359] |
Chr13:23336492 [GRCh38]
Chr13:23910631 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|uncertain significance |
| NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834668]|Spastic paraplegia [RCV002527516]|not provided [RCV000676353]|not specified [RCV000517432] |
Chr13:23333758 [GRCh38]
Chr13:23907897 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11348A>G (p.Glu3783Gly) |
single nucleotide variant |
not specified [RCV000517570] |
Chr13:23332528 [GRCh38]
Chr13:23906667 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000984213]|Spastic paraplegia [RCV001064306]|not provided [RCV000521561] |
Chr13:23339644 [GRCh38]
Chr13:23913783 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12813T>G (p.Pro4271=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114727]|Hereditary spastic paraplegia [RCV001848920]|SACS-related condition [RCV003905340]|Spastic paraplegia [RCV001081835]|not provided [RCV001529134]|not specified [RCV000712961] |
Chr13:23331063 [GRCh38]
Chr13:23905202 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109527]|SACS-related condition [RCV003900079]|Spastic paraplegia [RCV000863881]|not specified [RCV000516475] |
Chr13:23338457 [GRCh38]
Chr13:23912596 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783014]|Spastic paraplegia [RCV000633011]|not provided [RCV003482271] |
Chr13:23333201 [GRCh38]
Chr13:23907340 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000549870]|not provided [RCV003482277] |
Chr13:23332937 [GRCh38]
Chr13:23907076 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2602A>G (p.Ile868Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111916]|Hereditary spastic paraplegia [RCV001848891]|Inborn genetic diseases [RCV002525072]|Spastic paraplegia [RCV000820462]|not provided [RCV000518481] |
Chr13:23341274 [GRCh38]
Chr13:23915413 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834672]|not provided [RCV000516711] |
Chr13:23335040 [GRCh38]
Chr13:23909179 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.110G>A (p.Arg37His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834696]|Inborn genetic diseases [RCV004023576]|Spastic paraplegia [RCV002525178]|not provided [RCV000522808] |
Chr13:23375180 [GRCh38]
Chr13:23949319 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11901A>G (p.Gln3967=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835833]|not specified [RCV000517047] |
Chr13:23331975 [GRCh38]
Chr13:23906114 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829472]|Spastic paraplegia [RCV002525070]|not provided [RCV000517352] |
Chr13:23333254 [GRCh38]
Chr13:23907393 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1815A>G (p.Pro605=) |
single nucleotide variant |
Spastic paraplegia [RCV001403641]|not specified [RCV000517470] |
Chr13:23354797 [GRCh38]
Chr13:23928936 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10862T>C (p.Leu3621Ser) |
single nucleotide variant |
not specified [RCV000517616] |
Chr13:23333014 [GRCh38]
Chr13:23907153 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.134C>T (p.Pro45Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835834]|Spastic paraplegia [RCV002527517]|not specified [RCV000518000] |
Chr13:23375156 [GRCh38]
Chr13:23949295 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829518]|not provided [RCV000519608] |
Chr13:23337391 [GRCh38]
Chr13:23911530 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8844del (p.Ile2949fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000005847]|Hereditary spastic paraplegia [RCV001847583]|Spastic paraplegia [RCV000460039]|not provided [RCV000338359] |
Chr13:23335032 [GRCh38]
Chr13:23909171 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000005848]|Hereditary spastic paraplegia [RCV001847584]|Spastic paraplegia [RCV001851681]|not provided [RCV001268308] |
Chr13:23336372 [GRCh38]
Chr13:23910511 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000005849] |
Chr13:23331656 [GRCh38]
Chr13:23905795 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000005852]|SACS-related condition [RCV003415662]|Spastic paraplegia [RCV001851682] |
Chr13:23338040 [GRCh38]
Chr13:23912179 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000005854] |
Chr13:23334134 [GRCh38]
Chr13:23908273 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000005855] |
Chr13:23340715 [GRCh38]
Chr13:23914854 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000032007]|Spastic paraplegia [RCV001244900] |
Chr13:23332969 [GRCh38]
Chr13:23907108 [GRCh37]
Chr13:13q12.12 |
pathogenic|uncertain significance |
| NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000032008]|Spastic paraplegia [RCV001044731]|not provided [RCV000487627] |
Chr13:23331716 [GRCh38]
Chr13:23905855 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|See cases [RCV000051232] |
Chr13:22904496..24490885 [GRCh38]
Chr13:23478635..25065023 [GRCh37]
Chr13:22376635..23963023 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1 |
copy number loss |
See cases [RCV000051233] |
Chr13:22992823..24316005 [GRCh38]
Chr13:23566962..24890143 [GRCh37]
Chr13:22464962..23788143 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 |
copy number gain |
See cases [RCV000051234] |
Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|See cases [RCV000051235] |
Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3 |
copy number gain |
See cases [RCV000051307] |
Chr13:22941375..24286142 [GRCh38]
Chr13:23515514..24860280 [GRCh37]
Chr13:22413514..23758280 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3 |
copy number gain |
See cases [RCV000051308] |
Chr13:22980339..24363444 [GRCh38]
Chr13:23554478..24937582 [GRCh37]
Chr13:22452478..23835582 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3 |
copy number gain |
See cases [RCV000051309] |
Chr13:22992623..24336746 [GRCh38]
Chr13:23566762..24910884 [GRCh37]
Chr13:22464762..23808884 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] |
Chr13:19837395..24884509 [GRCh38]
Chr13:20411535..25458647 [GRCh37]
Chr13:19309535..24356647 [NCBI36]
Chr13:13q12.11-12.12 |
pathogenic |
| GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3 |
copy number gain |
See cases [RCV000051982] |
Chr13:22672788..23489498 [GRCh38]
Chr13:23246927..24063637 [GRCh37]
Chr13:22144927..22961637 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3 |
copy number gain |
See cases [RCV000051983] |
Chr13:23172478..23671209 [GRCh38]
Chr13:23746617..24245348 [GRCh37]
Chr13:22644617..23143348 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1 |
copy number loss |
See cases [RCV000053282] |
Chr13:22992823..23499449 [GRCh38]
Chr13:23566962..24073588 [GRCh37]
Chr13:22464962..22971588 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 |
copy number gain |
See cases [RCV000053726] |
Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 |
copy number gain |
See cases [RCV000053729] |
Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000053731] |
Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 |
copy number gain |
See cases [RCV000053719] |
Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 |
copy number gain |
See cases [RCV000053721] |
Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 |
copy number gain |
See cases [RCV000053723] |
Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| NM_014363.5(SACS):c.6795C>T (p.Ser2265=) |
single nucleotide variant |
Malignant melanoma [RCV000070316] |
Chr13:23337081 [GRCh38]
Chr13:23911220 [GRCh37]
Chr13:22809220 [NCBI36]
Chr13:13q12.12 |
not provided |
| NM_014363.5(SACS):c.5533C>T (p.Pro1845Ser) |
single nucleotide variant |
Malignant melanoma [RCV000070317] |
Chr13:23338343 [GRCh38]
Chr13:23912482 [GRCh37]
Chr13:22810482 [NCBI36]
Chr13:13q12.12 |
not provided |
| NM_014363.5(SACS):c.2356C>T (p.Leu786Phe) |
single nucleotide variant |
Malignant melanoma [RCV000070318] |
Chr13:23341520 [GRCh38]
Chr13:23915659 [GRCh37]
Chr13:22813659 [NCBI36]
Chr13:13q12.12 |
not provided |
| NM_014363.5(SACS):c.3107C>T (p.Pro1036Leu) |
single nucleotide variant |
Malignant melanoma [RCV000062645] |
Chr13:23340769 [GRCh38]
Chr13:23914908 [GRCh37]
Chr13:22812908 [NCBI36]
Chr13:13q12.12 |
not provided |
| NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000366246]|Hereditary spastic paraplegia [RCV001847716]|Spastic paraplegia [RCV001517094]|not provided [RCV000676354]|not specified [RCV000118228] |
Chr13:23333770 [GRCh38]
Chr13:23907909 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.10338G>A (p.Gln3446=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000270430]|Hereditary spastic paraplegia [RCV001847717]|Spastic paraplegia [RCV001509973]|not provided [RCV000676352]|not specified [RCV000118229] |
Chr13:23333538 [GRCh38]
Chr13:23907677 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.12304T>C (p.Leu4102=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000325147]|Hereditary spastic paraplegia [RCV001847718]|Spastic paraplegia [RCV001517093]|not provided [RCV000676348]|not specified [RCV000118230] |
Chr13:23331572 [GRCh38]
Chr13:23905711 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.1656A>G (p.Leu552=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000321187]|Hereditary spastic paraplegia [RCV001847719]|Spastic paraplegia [RCV001517661]|not provided [RCV000676371]|not specified [RCV000118231] |
Chr13:23354956 [GRCh38]
Chr13:23929095 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.6195T>C (p.Ile2065=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000381598]|Hereditary spastic paraplegia [RCV001847720]|Spastic paraplegia [RCV001517096]|not provided [RCV000676364]|not specified [RCV000118232] |
Chr13:23337681 [GRCh38]
Chr13:23911820 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.696T>A (p.Asn232Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000304888]|Hereditary spastic paraplegia [RCV001847721]|Spastic paraplegia [RCV001517662]|not provided [RCV000676376]|not specified [RCV000118233] |
Chr13:23355916 [GRCh38]
Chr13:23930055 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.8853T>C (p.Val2951=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000372801]|Hereditary spastic paraplegia [RCV001847722]|Spastic paraplegia [RCV001517095]|not provided [RCV000676356]|not specified [RCV000118234] |
Chr13:23335023 [GRCh38]
Chr13:23909162 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.9981T>C (p.Ala3327=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000331174]|Hereditary spastic paraplegia [RCV001847723]|Spastic paraplegia [RCV001509974]|not provided [RCV000676355]|not specified [RCV000118235] |
Chr13:23333895 [GRCh38]
Chr13:23908034 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274927]|Hereditary spastic paraplegia [RCV001847804]|Spastic paraplegia [RCV001084232]|not provided [RCV000224353]|not specified [RCV000173862] |
Chr13:23335003 [GRCh38]
Chr13:23909142 [GRCh37]
Chr13:13q12.12 |
benign |
| GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1 |
copy number loss |
See cases [RCV000133647] |
Chr13:23106962..23856032 [GRCh38]
Chr13:23681101..24430171 [GRCh37]
Chr13:22579101..23328171 [NCBI36]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668818] |
Chr13:23335956..23335961 [GRCh38]
Chr13:23910095..23910100 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000515329]|Hereditary spastic paraplegia [RCV001847803]|SACS-related condition [RCV003937553]|Spastic paraplegia [RCV001082339]|not provided [RCV000710206]|not specified [RCV000194599] |
Chr13:23339800 [GRCh38]
Chr13:23913939 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.13717A>C (p.Asn4573His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674768]|Hereditary spastic paraplegia [RCV000515968]|Spastic paraplegia [RCV001082378]|not provided [RCV000488235]|not specified [RCV000254363] |
Chr13:23330159 [GRCh38]
Chr13:23904298 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8133G>A (p.Ser2711=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273201]|Spastic paraplegia [RCV001087614]|not provided [RCV000173859] |
Chr13:23335743 [GRCh38]
Chr13:23909882 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000400126]|Spastic paraplegia [RCV001085181]|not provided [RCV000173860] |
Chr13:23341233 [GRCh38]
Chr13:23915372 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276936]|Spastic paraplegia [RCV001852116]|not provided [RCV000658671] |
Chr13:23335462 [GRCh38]
Chr13:23909601 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 |
copy number loss |
See cases [RCV000051235] |
Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1 |
copy number loss |
See cases [RCV000134057] |
Chr13:22992950..24336636 [GRCh38]
Chr13:23567089..24910774 [GRCh37]
Chr13:22465089..23808774 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 |
copy number gain |
See cases [RCV000134104] |
Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1 |
copy number loss |
See cases [RCV000134882] |
Chr13:23045243..24253602 [GRCh38]
Chr13:23619382..24827740 [GRCh37]
Chr13:22517382..23725740 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 |
copy number loss |
See cases [RCV000135610] |
Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3 |
copy number gain |
See cases [RCV000135612] |
Chr13:22764286..24444616 [GRCh38]
Chr13:23338425..25018754 [GRCh37]
Chr13:22236425..23916754 [NCBI36]
Chr13:13q12.12 |
likely benign |
| GRCh38/hg38 13q12.12(chr13:22822881-23533846)x1 |
copy number loss |
See cases [RCV000135940] |
Chr13:22822881..23533846 [GRCh38]
Chr13:23397020..24107985 [GRCh37]
Chr13:22295020..23005985 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3 |
copy number gain |
See cases [RCV000138208] |
Chr13:22980365..24370481 [GRCh38]
Chr13:23554504..24944619 [GRCh37]
Chr13:22452504..23842619 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22980365-23533846)x1 |
copy number loss |
See cases [RCV000137737] |
Chr13:22980365..23533846 [GRCh38]
Chr13:23554504..24107985 [GRCh37]
Chr13:22452504..23005985 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 |
copy number gain |
See cases [RCV000137892] |
Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11 |
pathogenic |
| GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3 |
copy number gain |
See cases [RCV000138877] |
Chr13:22943845..24355293 [GRCh38]
Chr13:23517984..24929431 [GRCh37]
Chr13:22415984..23827431 [NCBI36]
Chr13:13q12.12 |
uncertain significance|conflicting data from submitters |
| GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 |
copy number gain |
See cases [RCV000139078] |
Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3 |
copy number gain |
See cases [RCV000140092] |
Chr13:22959219..24384434 [GRCh38]
Chr13:23533358..24958572 [GRCh37]
Chr13:22431358..23856572 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3 |
copy number gain |
See cases [RCV000139968] |
Chr13:22980365..24336546 [GRCh38]
Chr13:23554504..24910684 [GRCh37]
Chr13:22452504..23808684 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3 |
copy number gain |
See cases [RCV000139971] |
Chr13:22943845..24336546 [GRCh38]
Chr13:23517984..24910684 [GRCh37]
Chr13:22415984..23808684 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2983G>T (p.Val995Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109614]|Hereditary spastic paraplegia [RCV001847912]|Spastic paraplegia [RCV001086025]|not provided [RCV000761853]|not specified [RCV000203008] |
Chr13:23340893 [GRCh38]
Chr13:23915032 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 |
copy number gain |
See cases [RCV000140004] |
Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 |
copy number gain |
See cases [RCV000141867] |
Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2 |
pathogenic |
| GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 |
copy number gain |
See cases [RCV000142924] |
Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 |
copy number loss |
See cases [RCV000143197] |
Chr13:19671934..24985872 [GRCh38]
Chr13:20246074..25560010 [GRCh37]
Chr13:19144074..24458010 [NCBI36]
Chr13:13q12.11-12.13 |
pathogenic |
| GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 |
copy number gain |
See cases [RCV000143462] |
Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34 |
pathogenic |
| GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 |
copy number gain |
See cases [RCV000148116] |
Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12 |
uncertain significance |
| GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000148126] |
Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34 |
pathogenic |
| NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000157061] |
Chr13:23340287 [GRCh38]
Chr13:23914426 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000168999]|Spastic paraplegia [RCV003588582] |
Chr13:23333409..23333410 [GRCh38]
Chr13:23907548..23907549 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000192438]|Inborn genetic diseases [RCV002517975]|Spastic paraplegia [RCV000633059] |
Chr13:23332970 [GRCh38]
Chr13:23907109 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.2439_2440del (p.Val815fs) |
deletion |
Abnormal central motor function [RCV001814081]|Charlevoix-Saguenay spastic ataxia [RCV000169208]|Spastic paraplegia [RCV001382654]|not provided [RCV000992783] |
Chr13:23341436..23341437 [GRCh38]
Chr13:23915575..23915576 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000169220]|Spastic paraplegia [RCV001850393]|not provided [RCV002509271] |
Chr13:23331644 [GRCh38]
Chr13:23905783 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000169272]|Spastic paraplegia [RCV001850396] |
Chr13:23330903 [GRCh38]
Chr13:23905042 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000169401]|Spastic paraplegia [RCV003588583] |
Chr13:23331022..23331025 [GRCh38]
Chr13:23905161..23905164 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000278445]|Hereditary spastic paraplegia [RCV001847870]|Spastic paraplegia [RCV001079338]|not provided [RCV000230933]|not specified [RCV000193480] |
Chr13:23332894 [GRCh38]
Chr13:23907033 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000338267]|Hereditary spastic paraplegia [RCV001847871]|Inborn genetic diseases [RCV004020340]|SACS-related condition [RCV003907705]|Spastic paraplegia [RCV001083422]|not provided [RCV000470007]|not specified [RCV000193535] |
Chr13:23340449 [GRCh38]
Chr13:23914588 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) |
single nucleotide variant |
Abnormal brain morphology [RCV000454342]|Charlevoix-Saguenay spastic ataxia [RCV000709972]|Hereditary spastic paraplegia [RCV001847872]|Spastic paraplegia [RCV000475223]|not provided [RCV001358184]|not specified [RCV000193608] |
Chr13:23339410 [GRCh38]
Chr13:23913549 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided |
| NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000194652]|Hereditary spastic paraplegia [RCV001847873]|Spastic paraplegia [RCV000230214]|not provided [RCV000513770]|not specified [RCV001815246] |
Chr13:23335483 [GRCh38]
Chr13:23909622 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) |
single nucleotide variant |
Abnormal brain morphology [RCV000454220]|Charlevoix-Saguenay spastic ataxia [RCV000984212]|Hereditary spastic paraplegia [RCV001848046]|Spastic paraplegia [RCV001859535]|not provided [RCV000393719] |
Chr13:23353788 [GRCh38]
Chr13:23927927 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000401468]|Hereditary spastic paraplegia [RCV001848064]|Spastic paraplegia [RCV001087895]|not provided [RCV000390861] |
Chr13:23337868 [GRCh38]
Chr13:23912007 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.1919_1920del (p.His640fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000192515] |
Chr13:23354692..23354693 [GRCh38]
Chr13:23928831..23928832 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) |
indel |
Spastic paraplegia [RCV001081474]|not provided [RCV000687700]|not specified [RCV000192981] |
Chr13:23339758..23339759 [GRCh38]
Chr13:23913897..23913898 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000194102] |
Chr13:23335026..23335027 [GRCh38]
Chr13:23909165..23909166 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13527dup (p.Glu4510fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000194514] |
Chr13:23330348..23330349 [GRCh38]
Chr13:23904487..23904488 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000411666]|Spastic paraplegia [RCV001223182]|not provided [RCV000297710] |
Chr13:23334368 [GRCh38]
Chr13:23908507 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4188C>T (p.His1396=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000265524]|Spastic paraplegia [RCV000461336]|not provided [RCV000676366]|not specified [RCV000324275] |
Chr13:23339688 [GRCh38]
Chr13:23913827 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000269188]|Hereditary spastic paraplegia [RCV001848052]|SACS-related condition [RCV003947857]|Spastic paraplegia [RCV001086494]|not provided [RCV000861200]|not specified [RCV000282202] |
Chr13:23340124 [GRCh38]
Chr13:23914263 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 |
copy number gain |
See cases [RCV000240150] |
Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34 |
pathogenic |
| NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000670743]|not provided [RCV000282747] |
Chr13:23338996..23338999 [GRCh38]
Chr13:23913135..23913138 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| GRCh37/hg19 13q12.12(chr13:23515553-24927971)x1 |
copy number loss |
See cases [RCV000258794] |
Chr13:23515553..24927971 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1 |
copy number loss |
See cases [RCV000446032] |
Chr13:23671134..24896556 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8793del (p.Lys2931fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000674417]|Spastic paraplegia [RCV000706287]|not provided [RCV000519077] |
Chr13:23335083 [GRCh38]
Chr13:23909222 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003467764]|Spastic paraplegia [RCV001051896] |
Chr13:23330623..23330624 [GRCh38]
Chr13:23904762..23904763 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2682G>A (p.Ser894=) |
single nucleotide variant |
Spastic paraplegia [RCV000544282]|not provided [RCV003884601] |
Chr13:23341194 [GRCh38]
Chr13:23915333 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001785652]|Spastic paraplegia [RCV001857925]|not provided [RCV000516377] |
Chr13:23336713..23336714 [GRCh38]
Chr13:23910852..23910853 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.13269A>T (p.Ser4423=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783016]|Spastic paraplegia [RCV001430724]|not specified [RCV000517276] |
Chr13:23330607 [GRCh38]
Chr13:23904746 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) |
deletion |
Autosomal recessive spastic ataxia [RCV000824756]|Charlevoix-Saguenay spastic ataxia [RCV000218042] |
Chr13:23335333..23335334 [GRCh38]
Chr13:23909472..23909473 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.262C>T (p.Arg88Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002305528]|Charlevoix-Saguenay spastic ataxia [RCV000677658]|Spastic paraplegia [RCV002544685]|not provided [RCV001816685] |
Chr13:23368485 [GRCh38]
Chr13:23942624 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830585]|not provided [RCV000712981] |
Chr13:23337470 [GRCh38]
Chr13:23911609 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV000669989] |
Chr13:23337575..23337576 [GRCh38]
Chr13:23911714..23911715 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7641dup (p.Glu2548fs) |
duplication |
Autosomal recessive spastic ataxia [RCV000214078] |
Chr13:23336234..23336235 [GRCh38]
Chr13:23910373..23910374 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000668952] |
Chr13:23338513..23338515 [GRCh38]
Chr13:23912652..23912654 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) |
single nucleotide variant |
Spastic paraplegia [RCV000227902]|not provided [RCV002272188] |
Chr13:23334584 [GRCh38]
Chr13:23908723 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3129A>G (p.Ser1043=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000334685]|Hereditary spastic paraplegia [RCV001847975]|SACS-related condition [RCV003929985]|Spastic paraplegia [RCV001082217]|not provided [RCV000710205]|not specified [RCV000372721] |
Chr13:23340747 [GRCh38]
Chr13:23914886 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000322346]|Hereditary spastic paraplegia [RCV001847950]|Spastic paraplegia [RCV001079358]|not provided [RCV000224626]|not specified [RCV000251185] |
Chr13:23331227 [GRCh38]
Chr13:23905366 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2427G>A (p.Glu809=) |
single nucleotide variant |
Spastic paraplegia [RCV000228862] |
Chr13:23341449 [GRCh38]
Chr13:23915588 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112284]|Hereditary spastic paraplegia [RCV001847949]|Spastic paraplegia [RCV001084237]|not provided [RCV000224523]|not specified [RCV000290021] |
Chr13:23339758 [GRCh38]
Chr13:23913897 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109310]|Hereditary spastic paraplegia [RCV001847947]|Spastic paraplegia [RCV001082218]|not provided [RCV000224587] |
Chr13:23335532 [GRCh38]
Chr13:23909671 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000260358]|Hereditary spastic paraplegia [RCV001847976]|SACS-related condition [RCV003929986]|Spastic paraplegia [RCV001081244]|not provided [RCV000516875] |
Chr13:23337095 [GRCh38]
Chr13:23911234 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10611A>G (p.Ala3537=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000392205]|Hereditary spastic paraplegia [RCV001847969]|Spastic paraplegia [RCV001079473]|not provided [RCV000710203]|not specified [RCV000516579] |
Chr13:23333265 [GRCh38]
Chr13:23907404 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578942]|Spastic paraplegia [RCV000225857]|not provided [RCV000676365] |
Chr13:23338028 [GRCh38]
Chr13:23912167 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000341299]|Hereditary spastic paraplegia [RCV001847977]|SACS-related condition [RCV003929987]|Spastic paraplegia [RCV001083821]|not provided [RCV000676358]|not specified [RCV002222460] |
Chr13:23335537 [GRCh38]
Chr13:23909676 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile) |
indel |
not provided [RCV000518355] |
Chr13:23335531..23335532 [GRCh38]
Chr13:23909670..23909671 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) |
single nucleotide variant |
Spastic paraplegia [RCV000233130] |
Chr13:23333168 [GRCh38]
Chr13:23907307 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2988A>G (p.Leu996=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109613]|Hereditary spastic paraplegia [RCV001847974]|Spastic paraplegia [RCV001086002]|not provided [RCV000761852]|not specified [RCV000386665] |
Chr13:23340888 [GRCh38]
Chr13:23915027 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000988965]|Spastic paraplegia [RCV000232090] |
Chr13:23340485 [GRCh38]
Chr13:23914624 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10821C>A (p.Ile3607=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113446]|Hereditary spastic paraplegia [RCV001847970]|Spastic paraplegia [RCV000226968]|not provided [RCV001689760]|not specified [RCV000516532] |
Chr13:23333055 [GRCh38]
Chr13:23907194 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000295984]|Inborn genetic diseases [RCV002518350]|Spastic paraplegia [RCV000232996] |
Chr13:23334845 [GRCh38]
Chr13:23908984 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10572A>G (p.Leu3524=) |
single nucleotide variant |
Spastic paraplegia [RCV001448693] |
Chr13:23333304 [GRCh38]
Chr13:23907443 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3 |
copy number gain |
Premature ovarian failure [RCV000225145] |
Chr13:23368834..24815661 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11688G>A (p.Arg3896=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000293354]|Hereditary spastic paraplegia [RCV001847971]|Spastic paraplegia [RCV000233808]|not provided [RCV001563142]|not specified [RCV000518611] |
Chr13:23332188 [GRCh38]
Chr13:23906327 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000624974]|Hereditary spastic paraplegia [RCV001847973]|Spastic paraplegia [RCV000234475]|not provided [RCV000676368]|not specified [RCV000250154] |
Chr13:23354532 [GRCh38]
Chr13:23928671 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.12597A>G (p.Pro4199=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000379249]|Hereditary spastic paraplegia [RCV001847972]|Spastic paraplegia [RCV000228765]|not provided [RCV001560895]|not specified [RCV000516975] |
Chr13:23331279 [GRCh38]
Chr13:23905418 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6282del (p.Thr2095fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669770] |
Chr13:23337594 [GRCh38]
Chr13:23911733 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000327882]|SACS-related condition [RCV003967757]|Spastic paraplegia [RCV001082514]|not specified [RCV000329092] |
Chr13:23333602 [GRCh38]
Chr13:23907741 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6267G>A (p.Ser2089=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000343325]|Spastic paraplegia [RCV000474698]|not provided [RCV000676362]|not specified [RCV000321971] |
Chr13:23337609 [GRCh38]
Chr13:23911748 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275196]|Spastic paraplegia [RCV000547323]|not specified [RCV000518100] |
Chr13:23339264 [GRCh38]
Chr13:23913403 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8589dup (p.Pro2864fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000669195] |
Chr13:23335286..23335287 [GRCh38]
Chr13:23909425..23909426 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8009del (p.Leu2670fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669250] |
Chr13:23335867 [GRCh38]
Chr13:23910006 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5304_5306del (p.His1769del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669699]|Spastic paraplegia [RCV003588666]|not provided [RCV003884702] |
Chr13:23338570..23338572 [GRCh38]
Chr13:23912709..23912711 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000669728] |
Chr13:23341312 [GRCh38]
Chr13:23915451 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669788] |
Chr13:23335362..23335364 [GRCh38]
Chr13:23909501..23909503 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*20del |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669879]|not provided [RCV001571217] |
Chr13:23330116 [GRCh38]
Chr13:23904255 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5826C>T (p.Tyr1942=) |
single nucleotide variant |
Spastic paraplegia [RCV000525407]|not specified [RCV001662538] |
Chr13:23338050 [GRCh38]
Chr13:23912189 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000668817] |
Chr13:23341424..23341425 [GRCh38]
Chr13:23915563..23915564 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000669194] |
Chr13:23330885 [GRCh38]
Chr13:23905024 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000669284] |
Chr13:23332367 [GRCh38]
Chr13:23906506 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3 |
copy number gain |
See cases [RCV000240032] |
Chr13:23671134..25009594 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) |
single nucleotide variant |
not provided [RCV000322018] |
Chr13:23331848 [GRCh38]
Chr13:23905987 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112102]|Hereditary spastic paraplegia [RCV001848029]|SACS-related condition [RCV003891946]|Spastic paraplegia [RCV001082626]|not provided [RCV000710207]|not specified [RCV000243536] |
Chr13:23336348 [GRCh38]
Chr13:23910487 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.-13A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000315880]|not provided [RCV001618448]|not specified [RCV000248762] |
Chr13:23411252 [GRCh38]
Chr13:23985391 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109309]|Hereditary spastic paraplegia [RCV001848030]|Spastic paraplegia [RCV000957157]|not provided [RCV001547216]|not specified [RCV000249301] |
Chr13:23335531 [GRCh38]
Chr13:23909670 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000398344]|Hereditary spastic paraplegia [RCV001848026]|Spastic paraplegia [RCV000456504]|not provided [RCV000676350]|not specified [RCV000254240] |
Chr13:23332844 [GRCh38]
Chr13:23906983 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.2094-14C>T |
single nucleotide variant |
Spastic paraplegia [RCV003750781]|not specified [RCV000242098] |
Chr13:23353890 [GRCh38]
Chr13:23928029 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2721G>A (p.Leu907=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001848028]|SACS-related condition [RCV003891945]|Spastic paraplegia [RCV000863068]|not provided [RCV001575008]|not specified [RCV000247097] |
Chr13:23341155 [GRCh38]
Chr13:23915294 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.909A>G (p.Ala303=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000344542]|Spastic paraplegia [RCV000465285]|not provided [RCV000676375]|not specified [RCV000249605] |
Chr13:23355703 [GRCh38]
Chr13:23929842 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.345+35T>C |
single nucleotide variant |
not specified [RCV000252065] |
Chr13:23368367 [GRCh38]
Chr13:23942506 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7763T>A (p.Leu2588His) |
single nucleotide variant |
not specified [RCV000517402] |
Chr13:23336113 [GRCh38]
Chr13:23910252 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829473]|not specified [RCV000516359] |
Chr13:23354813 [GRCh38]
Chr13:23928952 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.171+6C>T |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000300554]|Spastic paraplegia [RCV001521433]|not provided [RCV000676377]|not specified [RCV000242640] |
Chr13:23375113 [GRCh38]
Chr13:23949252 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.1839G>A (p.Gln613=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000361137]|Hereditary spastic paraplegia [RCV001848027]|Spastic paraplegia [RCV001084224]|not provided [RCV000676370]|not specified [RCV000247615] |
Chr13:23354773 [GRCh38]
Chr13:23928912 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.171+13C>T |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000393585]|Spastic paraplegia [RCV002058247]|not provided [RCV001566241]|not specified [RCV000250510] |
Chr13:23375106 [GRCh38]
Chr13:23949245 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112183]|Hereditary spastic paraplegia [RCV001848894]|Spastic paraplegia [RCV001082654]|not provided [RCV000516670] |
Chr13:23337825 [GRCh38]
Chr13:23911964 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.346-47G>A |
single nucleotide variant |
not provided [RCV001548329]|not specified [RCV000243243] |
Chr13:23365324 [GRCh38]
Chr13:23939463 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783017]|SACS-related condition [RCV003960224]|Spastic paraplegia [RCV000803901]|not specified [RCV000518243] |
Chr13:23337846 [GRCh38]
Chr13:23911985 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) |
single nucleotide variant |
Spastic paraplegia [RCV000868348]|not provided [RCV001288374]|not specified [RCV000248252] |
Chr13:23332904 [GRCh38]
Chr13:23907043 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109528]|Spastic paraplegia [RCV001433538]|not provided [RCV000518362] |
Chr13:23338485 [GRCh38]
Chr13:23912624 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000300780]|Inborn genetic diseases [RCV002520868]|Spastic paraplegia [RCV001242340]|not provided [RCV000516210] |
Chr13:23338940 [GRCh38]
Chr13:23913079 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000321278]|Spastic paraplegia [RCV002522276] |
Chr13:23337299 [GRCh38]
Chr13:23911438 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000283262]|Spastic paraplegia [RCV002522278] |
Chr13:23340331 [GRCh38]
Chr13:23914470 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.-59C>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000370452] |
Chr13:23411298 [GRCh38]
Chr13:23985437 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1728C>T (p.Tyr576=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000266493]|Spastic paraplegia [RCV000875331] |
Chr13:23354884 [GRCh38]
Chr13:23929023 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000347234]|Inborn genetic diseases [RCV004021565]|Spastic paraplegia [RCV000699474]|not specified [RCV000517759] |
Chr13:23337817 [GRCh38]
Chr13:23911956 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000372498]|Spastic paraplegia [RCV001060561] |
Chr13:23355334 [GRCh38]
Chr13:23929473 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000304456]|Spastic paraplegia [RCV001504069] |
Chr13:23333300 [GRCh38]
Chr13:23907439 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3345C>T (p.Val1115=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000374188]|Spastic paraplegia [RCV000860788]|not specified [RCV001660627] |
Chr13:23340531 [GRCh38]
Chr13:23914670 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.3042A>G (p.Leu1014=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000399926]|Spastic paraplegia [RCV001416952]|not provided [RCV000992787] |
Chr13:23340834 [GRCh38]
Chr13:23914973 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.12438G>A (p.Ser4146=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000268383]|Hereditary spastic paraplegia [RCV001848096]|Spastic paraplegia [RCV000861751]|not provided [RCV003992276] |
Chr13:23331438 [GRCh38]
Chr13:23905577 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000270117] |
Chr13:23353860 [GRCh38]
Chr13:23927999 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.944A>G (p.Asp315Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000289676]|Spastic paraplegia [RCV002520873] |
Chr13:23355668 [GRCh38]
Chr13:23929807 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000350600]|Spastic paraplegia [RCV000550324] |
Chr13:23337946 [GRCh38]
Chr13:23912085 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.*1292A>T |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000289553] |
Chr13:23328844 [GRCh38]
Chr13:23902983 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6069C>T (p.Asn2023=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000289978]|Hereditary spastic paraplegia [RCV001848100]|Spastic paraplegia [RCV000861552]|not specified [RCV001660626] |
Chr13:23337807 [GRCh38]
Chr13:23911946 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.-331A>C |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000291246] |
Chr13:23411570 [GRCh38]
Chr13:23985709 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000309988]|Spastic paraplegia [RCV000529780]|not provided [RCV000517722] |
Chr13:23341379 [GRCh38]
Chr13:23915518 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000273799]|Spastic paraplegia [RCV003750784] |
Chr13:23333812 [GRCh38]
Chr13:23907951 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000275588]|Spastic paraplegia [RCV001083438]|not provided [RCV001725163]|not specified [RCV000712990] |
Chr13:23336349 [GRCh38]
Chr13:23910488 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000293298]|Spastic paraplegia [RCV001500911]|not provided [RCV000992772] |
Chr13:23355531 [GRCh38]
Chr13:23929670 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000312333]|Spastic paraplegia [RCV002522277]|not provided [RCV000995036] |
Chr13:23337944 [GRCh38]
Chr13:23912083 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4302A>G (p.Leu1434=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000357802]|Hereditary spastic paraplegia [RCV001848102]|SACS-related condition [RCV003910159]|Spastic paraplegia [RCV000864699]|not provided [RCV001171670]|not specified [RCV000517025] |
Chr13:23339574 [GRCh38]
Chr13:23913713 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.-70G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000275839] |
Chr13:23411309 [GRCh38]
Chr13:23985448 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5302C>T (p.His1768Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000297039]|Spastic paraplegia [RCV002520867] |
Chr13:23338574 [GRCh38]
Chr13:23912713 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1173T>C (p.Ser391=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000387597] |
Chr13:23355439 [GRCh38]
Chr13:23929578 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1224C>T (p.Asp408=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000296723]|Spastic paraplegia [RCV001079181]|not provided [RCV000862553] |
Chr13:23355388 [GRCh38]
Chr13:23929527 [GRCh37]
Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8379G>A (p.Gln2793=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000390354]|Spastic paraplegia [RCV002056364] |
Chr13:23335497 [GRCh38]
Chr13:23909636 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1608G>A (p.Pro536=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000262582]|Spastic paraplegia [RCV001504466] |
Chr13:23355004 [GRCh38]
Chr13:23929143 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000392204]|Spastic paraplegia [RCV000633069]|not provided [RCV001573868]|not specified [RCV000518679] |
Chr13:23332980 [GRCh38]
Chr13:23907119 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.3144A>G (p.Val1048=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000279611]|Hereditary spastic paraplegia [RCV001848104]|Spastic paraplegia [RCV001081930]|not provided [RCV000712974] |
Chr13:23340732 [GRCh38]
Chr13:23914871 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000282675]|Inborn genetic diseases [RCV002520866]|Spastic paraplegia [RCV000691162] |
Chr13:23337242 [GRCh38]
Chr13:23911381 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000367674] |
Chr13:23336341 [GRCh38]
Chr13:23910480 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000280553] |
Chr13:23335121 [GRCh38]
Chr13:23909260 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.-531G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000342904] |
Chr13:23433644 [GRCh38]
Chr13:24007783 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5841C>T (p.Pro1947=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000392069]|Spastic paraplegia [RCV001081266]|not provided [RCV000868830] |
Chr13:23338035 [GRCh38]
Chr13:23912174 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV001782778]|not provided [RCV000303594] |
Chr13:23333414..23333415 [GRCh38]
Chr13:23907553..23907554 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) |
single nucleotide variant |
not provided [RCV000303768] |
Chr13:23332724 [GRCh38]
Chr13:23906863 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765117]|Inborn genetic diseases [RCV004021306]|Spastic paraplegia [RCV002522028]|not provided [RCV000337604] |
Chr13:23330840 [GRCh38]
Chr13:23904979 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|likely benign|uncertain significance |
| NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109417]|Inborn genetic diseases [RCV002519175]|Spastic paraplegia [RCV001079763]|not provided [RCV000725615]|not specified [RCV000338875] |
Chr13:23336736 [GRCh38]
Chr13:23910875 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) |
single nucleotide variant |
not provided [RCV000337874] |
Chr13:23339407 [GRCh38]
Chr13:23913546 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000681647]|Spastic paraplegia [RCV002519084]|not provided [RCV000373496] |
Chr13:23340880 [GRCh38]
Chr13:23915019 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.1917A>G (p.Ala639=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001782774]|Spastic paraplegia [RCV001078709]|not provided [RCV000710204]|not specified [RCV001283505] |
Chr13:23354695 [GRCh38]
Chr13:23928834 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000323040]|Hereditary spastic paraplegia [RCV001848103]|Spastic paraplegia [RCV000884011] |
Chr13:23339759 [GRCh38]
Chr13:23913898 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.47G>T (p.Gly16Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000260394]|Spastic paraplegia [RCV002520874]|not provided [RCV000712975] |
Chr13:23375243 [GRCh38]
Chr13:23949382 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.*1200A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000346825] |
Chr13:23328936 [GRCh38]
Chr13:23903075 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11928T>C (p.Ser3976=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000347323]|Spastic paraplegia [RCV000862657]|not provided [RCV003409483]|not specified [RCV001660625] |
Chr13:23331948 [GRCh38]
Chr13:23906087 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000371368]|Hereditary spastic paraplegia [RCV001848099]|Inborn genetic diseases [RCV002520865]|Spastic ataxia [RCV001642968]|Spastic paraplegia [RCV001247269]|not provided [RCV000712986] |
Chr13:23336924 [GRCh38]
Chr13:23911063 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.13512A>G (p.Ala4504=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000261019] |
Chr13:23330364 [GRCh38]
Chr13:23904503 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1066A>G (p.Ile356Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000348179]|Hereditary spastic paraplegia [RCV001848108]|Spastic paraplegia [RCV002522279]|not provided [RCV001660628] |
Chr13:23355546 [GRCh38]
Chr13:23929685 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) |
single nucleotide variant |
not provided [RCV000310504] |
Chr13:23339278 [GRCh38]
Chr13:23913417 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000306392]|Spastic paraplegia [RCV001477679]|not specified [RCV000516257] |
Chr13:23335854 [GRCh38]
Chr13:23909993 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000306464]|Hereditary spastic paraplegia [RCV001848105]|Spastic paraplegia [RCV001400059]|not provided [RCV001288709] |
Chr13:23354700 [GRCh38]
Chr13:23928839 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.-367C>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000327697] |
Chr13:23411606 [GRCh38]
Chr13:23985745 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000349604]|Spastic paraplegia [RCV001080014]|not provided [RCV000712971]|not specified [RCV001706475] |
Chr13:23341195 [GRCh38]
Chr13:23915334 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.9852A>G (p.Thr3284=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113530]|Spastic paraplegia [RCV001089187]|not provided [RCV000281392]|not specified [RCV001288380] |
Chr13:23334024 [GRCh38]
Chr13:23908163 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.11703T>C (p.Asn3901=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001782776]|Hereditary spastic paraplegia [RCV001848062]|Spastic paraplegia [RCV001089271]|not provided [RCV000313782] |
Chr13:23332173 [GRCh38]
Chr13:23906312 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000261943] |
Chr13:23338900 [GRCh38]
Chr13:23913039 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000375874]|Spastic paraplegia [RCV002520870] |
Chr13:23354972 [GRCh38]
Chr13:23929111 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8056C>T (p.Leu2686=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000401979]|Spastic paraplegia [RCV002520864] |
Chr13:23335820 [GRCh38]
Chr13:23909959 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.-173C>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000330947] |
Chr13:23411412 [GRCh38]
Chr13:23985551 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*307A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000353517] |
Chr13:23329829 [GRCh38]
Chr13:23903968 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000354216]|Hereditary spastic paraplegia [RCV001848101]|Spastic paraplegia [RCV000876841] |
Chr13:23338654 [GRCh38]
Chr13:23912793 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6561C>T (p.Ile2187=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000378234]|Spastic paraplegia [RCV000863703] |
Chr13:23337315 [GRCh38]
Chr13:23911454 [GRCh37]
Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001782775]|SACS-related condition [RCV003957483]|Spastic paraplegia [RCV001083937]|not provided [RCV000676373]|not specified [RCV000392351] |
Chr13:23355546 [GRCh38]
Chr13:23929685 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000264951] |
Chr13:23331176 [GRCh38]
Chr13:23905315 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7647T>G (p.Leu2549=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000310623]|Hereditary spastic paraplegia [RCV001848098]|Spastic paraplegia [RCV000865836] |
Chr13:23336229 [GRCh38]
Chr13:23910368 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000333051]|Hereditary spastic paraplegia [RCV001848107]|Spastic paraplegia [RCV002520871]|not provided [RCV002472984] |
Chr13:23355393 [GRCh38]
Chr13:23929532 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7165G>A (p.Val2389Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000332938]|SACS-related condition [RCV003930329]|Spastic paraplegia [RCV000863318]|not specified [RCV001287913] |
Chr13:23336711 [GRCh38]
Chr13:23910850 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.99T>C (p.Asp33=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000355437]|Spastic paraplegia [RCV001083423]|not provided [RCV000863241]|not specified [RCV001288381] |
Chr13:23375191 [GRCh38]
Chr13:23949330 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000379945]|Spastic paraplegia [RCV002520869]|not specified [RCV000501904] |
Chr13:23340008 [GRCh38]
Chr13:23914147 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|benign|uncertain significance |
| NM_014363.6(SACS):c.-470C>T |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000382222] |
Chr13:23411709 [GRCh38]
Chr13:23985848 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12216T>A (p.Thr4072=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000382122]|Spastic paraplegia [RCV000865044]|not specified [RCV000518146] |
Chr13:23331660 [GRCh38]
Chr13:23905799 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7713A>T (p.Pro2571=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000406766]|Spastic paraplegia [RCV002056365] |
Chr13:23336163 [GRCh38]
Chr13:23910302 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) |
single nucleotide variant |
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability [RCV001544509]|Charlevoix-Saguenay spastic ataxia [RCV000762910]|Spastic paraplegia [RCV001379554]|not provided [RCV000377502] |
Chr13:23334571 [GRCh38]
Chr13:23908710 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.345+14C>T |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000359589]|Spastic paraplegia [RCV003588615] |
Chr13:23368388 [GRCh38]
Chr13:23942527 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000385354]|Spastic paraplegia [RCV003750783] |
Chr13:23332084 [GRCh38]
Chr13:23906223 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8022T>C (p.Phe2674=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111636]|Hereditary spastic paraplegia [RCV001848058]|Spastic paraplegia [RCV001085541]|not provided [RCV000512830] |
Chr13:23335854 [GRCh38]
Chr13:23909993 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000315960]|Spastic paraplegia [RCV001411302] |
Chr13:23334886 [GRCh38]
Chr13:23909025 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8577C>T (p.His2859=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000338040]|Spastic paraplegia [RCV001088324]|not provided [RCV000676357] |
Chr13:23335299 [GRCh38]
Chr13:23909438 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10443C>G (p.Leu3481=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000361442]|Hereditary spastic paraplegia [RCV001848097]|Spastic paraplegia [RCV000862081]|not provided [RCV001288370]|not specified [RCV001723893] |
Chr13:23333433 [GRCh38]
Chr13:23907572 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.-219A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000385634]|not provided [RCV001559393] |
Chr13:23411458 [GRCh38]
Chr13:23985597 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|uncertain significance |
| NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000317718]|Hereditary spastic paraplegia [RCV001848106]|Spastic paraplegia [RCV000464896]|not provided [RCV000712962] |
Chr13:23355149 [GRCh38]
Chr13:23929288 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000388007]|Spastic paraplegia [RCV003588614] |
Chr13:23333989 [GRCh38]
Chr13:23908128 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7466C>A (p.Pro2489His) |
single nucleotide variant |
Spastic paraplegia [RCV002519331]|not provided [RCV000264811] |
Chr13:23336410 [GRCh38]
Chr13:23910549 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001782779]|Spastic paraplegia [RCV001089050]|not provided [RCV000333351] |
Chr13:23339597 [GRCh38]
Chr13:23913736 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6240T>C (p.Val2080=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111737]|Spastic paraplegia [RCV001086386]|not provided [RCV000676363]|not specified [RCV001706417] |
Chr13:23337636 [GRCh38]
Chr13:23911775 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2487C>T (p.Asp829=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000364679]|Spastic paraplegia [RCV000867241] |
Chr13:23341389 [GRCh38]
Chr13:23915528 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.954A>G (p.Leu318=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000390104]|Spastic paraplegia [RCV002520872] |
Chr13:23355658 [GRCh38]
Chr13:23929797 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000603816]|Hereditary spastic paraplegia [RCV000516147]|SACS-related condition [RCV003930065]|Spastic paraplegia [RCV001082461]|not provided [RCV000676372]|not specified [RCV001844110] |
Chr13:23355239 [GRCh38]
Chr13:23929378 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.9731T>A (p.Leu3244His) |
single nucleotide variant |
Spastic paraplegia [RCV002518903]|not provided [RCV000407228] |
Chr13:23334145 [GRCh38]
Chr13:23908284 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6844T>C (p.Leu2282=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278824] |
Chr13:23337032 [GRCh38]
Chr13:23911171 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278830] |
Chr13:23340806 [GRCh38]
Chr13:23914945 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1331C>G (p.Ala444Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278834] |
Chr13:23355281 [GRCh38]
Chr13:23929420 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578934]|Spastic paraplegia [RCV002570818] |
Chr13:23333608 [GRCh38]
Chr13:23907747 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834590]|not provided [RCV000489239] |
Chr13:23339270 [GRCh38]
Chr13:23913409 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829396]|not provided [RCV000489327] |
Chr13:23334590 [GRCh38]
Chr13:23908729 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8904T>C (p.Leu2968=) |
single nucleotide variant |
Spastic paraplegia [RCV002084520] |
Chr13:23334972 [GRCh38]
Chr13:23909111 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) |
single nucleotide variant |
not provided [RCV000489599] |
Chr13:23335607 [GRCh38]
Chr13:23909746 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.623G>T (p.Ser208Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674847]|Spastic paraplegia [RCV001224412]|not provided [RCV000522663]|not specified [RCV003323587] |
Chr13:23355989 [GRCh38]
Chr13:23930128 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.11432T>C (p.Val3811Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001579248] |
Chr13:23332444 [GRCh38]
Chr13:23906583 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5855T>A (p.Val1952Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001579250] |
Chr13:23338021 [GRCh38]
Chr13:23912160 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.826C>T (p.Arg276Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003444027]|Spastic paraplegia [RCV003588887]|not provided [RCV003314858] |
Chr13:23355786 [GRCh38]
Chr13:23929925 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002281746] |
Chr13:23338919 [GRCh38]
Chr13:23913058 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2387del (p.Leu796fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003313827] |
Chr13:23341489 [GRCh38]
Chr13:23915628 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003313828] |
Chr13:23331889..23331890 [GRCh38]
Chr13:23906028..23906029 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002281768] |
Chr13:23338580 [GRCh38]
Chr13:23912719 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter) |
single nucleotide variant |
not provided [RCV000490163] |
Chr13:23338445 [GRCh38]
Chr13:23912584 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.*1046CTTTA[1] |
microsatellite |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000305184]|Charlevoix-Saguenay spastic ataxia [RCV000400201]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000359875] |
Chr13:23329081..23329085 [GRCh38]
Chr13:23903220..23903224 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_000231.3(SGCG):c.*254G>A |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000315861]|Charlevoix-Saguenay spastic ataxia [RCV000354144]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000372732]|Sarcoglycanopathy [RCV001111245]|not provided [RCV001642891]|not specified [RCV000394244] |
Chr13:23324795 [GRCh38]
Chr13:23898934 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109615]|Hereditary spastic paraplegia [RCV001848892]|SACS-related condition [RCV003905307]|Spastic paraplegia [RCV001081341]|not provided [RCV000516574]|not specified [RCV001644611] |
Chr13:23340950 [GRCh38]
Chr13:23915089 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7857T>C (p.Thr2619=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000364237] |
Chr13:23336019 [GRCh38]
Chr13:23910158 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000317355] |
Chr13:23337122 [GRCh38]
Chr13:23911261 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000383585] |
Chr13:23340319 [GRCh38]
Chr13:23914458 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834669]|not specified [RCV000517093] |
Chr13:23340463 [GRCh38]
Chr13:23914602 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8341C>G (p.His2781Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000283923] |
Chr13:23335535 [GRCh38]
Chr13:23909674 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000335796] |
Chr13:23332909 [GRCh38]
Chr13:23907048 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*882A>C |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000350556] |
Chr13:23329254 [GRCh38]
Chr13:23903393 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000350663]|Inborn genetic diseases [RCV004021564]|Spastic paraplegia [RCV002520863] |
Chr13:23332467 [GRCh38]
Chr13:23906606 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000988963]|Charlevoix-Saguenay spastic ataxia [RCV000348757]|not specified [RCV000153942] |
Chr13:23324525 [GRCh38]
Chr13:23898664 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834673]|Spastic paraplegia [RCV003588642]|not specified [RCV000517800] |
Chr13:23334905 [GRCh38]
Chr13:23909044 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5946A>G (p.Gly1982=) |
single nucleotide variant |
Spastic paraplegia [RCV001487894]|not specified [RCV000517832] |
Chr13:23337930 [GRCh38]
Chr13:23912069 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6451T>G (p.Leu2151Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000286135] |
Chr13:23337425 [GRCh38]
Chr13:23911564 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_000231.3(SGCG):c.*295T>C |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000261794]|Charlevoix-Saguenay spastic ataxia [RCV000391543]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000319133]|Sarcoglycanopathy [RCV001111247]|not provided [RCV001653527] |
Chr13:23324836 [GRCh38]
Chr13:23898975 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.*677C>T |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000320434]|Charlevoix-Saguenay spastic ataxia [RCV000391991]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000265271] |
Chr13:23329459 [GRCh38]
Chr13:23903598 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.789C>T (p.Asn263=) |
single nucleotide variant |
Spastic paraplegia [RCV000960731]|not specified [RCV000518139] |
Chr13:23355823 [GRCh38]
Chr13:23929962 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113726]|Hereditary spastic paraplegia [RCV001848890]|Inborn genetic diseases [RCV002525071]|Spastic paraplegia [RCV001083870]|not provided [RCV000518207] |
Chr13:23354727 [GRCh38]
Chr13:23928866 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.*484T>C |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000365800]|Charlevoix-Saguenay spastic ataxia [RCV000315525]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000271293] |
Chr13:23329652 [GRCh38]
Chr13:23903791 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_000231.3(SGCG):c.*136T>C |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000273729]|Charlevoix-Saguenay spastic ataxia [RCV000299676]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000312413]|Sarcoglycanopathy [RCV001110485]|not provided [RCV001683256] |
Chr13:23324677 [GRCh38]
Chr13:23898816 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.8972G>A (p.Arg2991His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765119]|Hereditary spastic paraplegia [RCV001848898]|Spastic paraplegia [RCV001085517]|not provided [RCV000518535]|not specified [RCV001644612] |
Chr13:23334904 [GRCh38]
Chr13:23909043 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.-489G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000287898] |
Chr13:23411728 [GRCh38]
Chr13:23985867 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000374343] |
Chr13:23337233 [GRCh38]
Chr13:23911372 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7149C>T (p.Arg2383=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115058]|Hereditary spastic paraplegia [RCV001848924]|Spastic paraplegia [RCV001079334]|not provided [RCV000676361]|not specified [RCV001287912] |
Chr13:23336727 [GRCh38]
Chr13:23910866 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000299853]|not provided [RCV002472983] |
Chr13:23330594 [GRCh38]
Chr13:23904733 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000357075] |
Chr13:23330845 [GRCh38]
Chr13:23904984 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 |
copy number loss |
Cardiomyopathy [RCV000611072] |
Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10716C>G (p.Pro3572=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000300713]|Spastic paraplegia [RCV001493823] |
Chr13:23333160 [GRCh38]
Chr13:23907299 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.*942A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000312018] |
Chr13:23329194 [GRCh38]
Chr13:23903333 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3615C>T (p.Ile1205=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000326629] |
Chr13:23340261 [GRCh38]
Chr13:23914400 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000358026] |
Chr13:23333177 [GRCh38]
Chr13:23907316 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_000231.3(SGCG):c.*13C>T |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000398630]|Charlevoix-Saguenay spastic ataxia [RCV000393997]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000304530]|Sarcoglycanopathy [RCV001114521]|not specified [RCV000078402] |
Chr13:23324554 [GRCh38]
Chr13:23898693 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_000231.3(SGCG):c.705T>C (p.Leu235=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000373060]|Charlevoix-Saguenay spastic ataxia [RCV000293880]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000278365]|Sarcoglycanopathy [RCV001113157]|not provided [RCV000710216]|not specified [RCV000078407] |
Chr13:23324370 [GRCh38]
Chr13:23898509 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.12063T>C (p.His4021=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000290073]|Spastic paraplegia [RCV002056363] |
Chr13:23331813 [GRCh38]
Chr13:23905952 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2788A>G (p.Ile930Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000313588]|Inborn genetic diseases [RCV003165837]|Spastic paraplegia [RCV000700339] |
Chr13:23341088 [GRCh38]
Chr13:23915227 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.736C>G (p.Gln246Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000398546] |
Chr13:23355876 [GRCh38]
Chr13:23930015 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6565T>G (p.Leu2189Val) |
single nucleotide variant |
not specified [RCV000518764] |
Chr13:23337311 [GRCh38]
Chr13:23911450 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1886C>T (p.Ala629Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829566]|Spastic paraplegia [RCV000530995] |
Chr13:23354726 [GRCh38]
Chr13:23928865 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.712A>T (p.Lys238Ter) |
single nucleotide variant |
not provided [RCV000627299] |
Chr13:23355900 [GRCh38]
Chr13:23930039 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276941]|Inborn genetic diseases [RCV002525073]|Spastic paraplegia [RCV002527519]|not provided [RCV002473033] |
Chr13:23338293 [GRCh38]
Chr13:23912432 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.810T>G (p.Phe270Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112465]|Hereditary spastic paraplegia [RCV001848897]|SACS-related condition [RCV003962434]|Spastic paraplegia [RCV001085212]|not provided [RCV000517365]|not specified [RCV000728923] |
Chr13:23355802 [GRCh38]
Chr13:23929941 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV001274914]|Spastic paraplegia [RCV000822418]|not provided [RCV000599242] |
Chr13:23330137..23330138 [GRCh38]
Chr13:23904276..23904277 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003465330]|not provided [RCV000593641] |
Chr13:23330261 [GRCh38]
Chr13:23904400 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000671806]|Spastic paraplegia [RCV002532677]|not provided [RCV000593745]|not specified [RCV002232237] |
Chr13:23330849 [GRCh38]
Chr13:23904988 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834758]|Inborn genetic diseases [RCV004023781]|Spastic paraplegia [RCV000532956] |
Chr13:23337283 [GRCh38]
Chr13:23911422 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8142G>A (p.Ser2714=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783101]|Spastic paraplegia [RCV001468357]|not provided [RCV000598079] |
Chr13:23335734 [GRCh38]
Chr13:23909873 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001785684]|Hereditary spastic paraplegia [RCV001849000]|Spastic paraplegia [RCV001065954]|not provided [RCV000627327] |
Chr13:23354940 [GRCh38]
Chr13:23929079 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000591507]|Spastic paraplegia [RCV001853995]|not provided [RCV000724727] |
Chr13:23338810..23338811 [GRCh38]
Chr13:23912949..23912950 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409079]|Spastic paraplegia [RCV001243148] |
Chr13:23355422..23355423 [GRCh38]
Chr13:23929561..23929562 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000409109] |
Chr13:23332691 [GRCh38]
Chr13:23906830 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000409133] |
Chr13:23340961..23340962 [GRCh38]
Chr13:23915100..23915101 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000409140] |
Chr13:23340919 [GRCh38]
Chr13:23915058 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000409179]|Spastic paraplegia [RCV001861363] |
Chr13:23333379 [GRCh38]
Chr13:23907518 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409192] |
Chr13:23339405..23339411 [GRCh38]
Chr13:23913544..23913550 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000409220] |
Chr13:23355334..23355335 [GRCh38]
Chr13:23929473..23929474 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000409240] |
Chr13:23338801..23338802 [GRCh38]
Chr13:23912940..23912941 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000409299]|Hereditary spastic paraplegia [RCV000515938]|Spastic paraplegia [RCV001865273] |
Chr13:23338247 [GRCh38]
Chr13:23912386 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.2040C>T (p.Ser680=) |
single nucleotide variant |
Spastic paraplegia [RCV001081167]|not provided [RCV000541304] |
Chr13:23354572 [GRCh38]
Chr13:23928711 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000409320]|Spastic paraplegia [RCV001218630] |
Chr13:23330592..23330593 [GRCh38]
Chr13:23904731..23904732 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000409346] |
Chr13:23341546 [GRCh38]
Chr13:23915685 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000409386]|Spastic paraplegia [RCV001861390] |
Chr13:23335252..23335255 [GRCh38]
Chr13:23909391..23909394 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5784dup (p.Arg1929fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000409433] |
Chr13:23338091..23338092 [GRCh38]
Chr13:23912230..23912231 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.29del (p.Pro10fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409439]|Spastic paraplegia [RCV003750785] |
Chr13:23375261 [GRCh38]
Chr13:23949400 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409460]|Inborn genetic diseases [RCV002523874]|Spastic paraplegia [RCV002523875] |
Chr13:23330949..23330953 [GRCh38]
Chr13:23905088..23905092 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4760del (p.His1587fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409566] |
Chr13:23339116 [GRCh38]
Chr13:23913255 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7844del (p.Asn2615fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409571]|Spastic paraplegia [RCV001218622] |
Chr13:23336032 [GRCh38]
Chr13:23910171 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4039del (p.Leu1347fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409583] |
Chr13:23339837 [GRCh38]
Chr13:23913976 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6757dup (p.Ile2253fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000409610]|Spastic paraplegia [RCV003750786] |
Chr13:23337118..23337119 [GRCh38]
Chr13:23911257..23911258 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.1A>G (p.Met1Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000409645] |
Chr13:23411239 [GRCh38]
Chr13:23985378 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000409711] |
Chr13:23358470..23358471 [GRCh38]
Chr13:23932609..23932610 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409838] |
Chr13:23335142..23335143 [GRCh38]
Chr13:23909281..23909282 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NC_000013.10:g.(?_23667335)_(23985398_?)dup |
duplication |
Spastic paraplegia [RCV000537039] |
Chr13:23093196..23411259 [GRCh38]
Chr13:23667335..23985398 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7788del (p.Phe2596fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409944]|Spastic paraplegia [RCV001388052] |
Chr13:23336088 [GRCh38]
Chr13:23910227 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4593dup (p.Asp1532fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000410059] |
Chr13:23339282..23339283 [GRCh38]
Chr13:23913421..23913422 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000410263]|Spastic paraplegia [RCV001865265] |
Chr13:23330744 [GRCh38]
Chr13:23904883 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000410288] |
Chr13:23341245..23341246 [GRCh38]
Chr13:23915384..23915385 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410298] |
Chr13:23334045..23334058 [GRCh38]
Chr13:23908184..23908197 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7494_7504del (p.Val2499fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410317] |
Chr13:23336372..23336382 [GRCh38]
Chr13:23910511..23910521 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000410379]|Spastic paraplegia [RCV003588624] |
Chr13:23338109..23338112 [GRCh38]
Chr13:23912248..23912251 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.1085del (p.Lys362fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410403] |
Chr13:23355527 [GRCh38]
Chr13:23929666 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000410424] |
Chr13:23339578 [GRCh38]
Chr13:23913717 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410430] |
Chr13:23333187..23333190 [GRCh38]
Chr13:23907326..23907329 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10090del (p.Ala3364fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410438] |
Chr13:23333786 [GRCh38]
Chr13:23907925 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6320del (p.Leu2107fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410468] |
Chr13:23337556 [GRCh38]
Chr13:23911695 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9377dup (p.Leu3128fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000410587] |
Chr13:23334498..23334499 [GRCh38]
Chr13:23908637..23908638 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2186-2A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000410645] |
Chr13:23341692 [GRCh38]
Chr13:23915831 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410665]|Spastic paraplegia [RCV002524619] |
Chr13:23336352..23336355 [GRCh38]
Chr13:23910491..23910494 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829475]|not specified [RCV000518654] |
Chr13:23340468 [GRCh38]
Chr13:23914607 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000410750]|Spastic paraplegia [RCV002523868] |
Chr13:23334786..23334787 [GRCh38]
Chr13:23908925..23908926 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.11081dup (p.Cys3694fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000410800] |
Chr13:23332794..23332795 [GRCh38]
Chr13:23906933..23906934 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410889] |
Chr13:23354931 [GRCh38]
Chr13:23929070 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9390_9391del (p.His3130fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410981] |
Chr13:23334485..23334486 [GRCh38]
Chr13:23908624..23908625 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10854del (p.Glu3619fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000410993] |
Chr13:23333022 [GRCh38]
Chr13:23907161 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411155]|Spastic paraplegia [RCV003750787] |
Chr13:23332626..23332629 [GRCh38]
Chr13:23906765..23906768 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411216] |
Chr13:23340680..23340681 [GRCh38]
Chr13:23914819..23914820 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000411243]|Spastic paraplegia [RCV003766121]|not provided [RCV001310676] |
Chr13:23332502 [GRCh38]
Chr13:23906641 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411320]|Spastic paraplegia [RCV001245824] |
Chr13:23337424..23337428 [GRCh38]
Chr13:23911563..23911567 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411344] |
Chr13:23338979..23338982 [GRCh38]
Chr13:23913118..23913121 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6221del (p.Asp2074fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411355]|Spastic paraplegia [RCV002523880] |
Chr13:23337655 [GRCh38]
Chr13:23911794 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6804del (p.Phe2268fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411394] |
Chr13:23337072 [GRCh38]
Chr13:23911211 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1137dup (p.Glu380fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000411406]|Spastic paraplegia [RCV001850954] |
Chr13:23355474..23355475 [GRCh38]
Chr13:23929613..23929614 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2870del (p.Pro957fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411525] |
Chr13:23341006 [GRCh38]
Chr13:23915145 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8612dup (p.Leu2871fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000411570] |
Chr13:23335263..23335264 [GRCh38]
Chr13:23909402..23909403 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.591C>T (p.Val197=) |
single nucleotide variant |
Spastic paraplegia [RCV000540265] |
Chr13:23358348 [GRCh38]
Chr13:23932487 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002535367]|not provided [RCV000734127] |
Chr13:23341643 [GRCh38]
Chr13:23915782 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys) |
single nucleotide variant |
not provided [RCV000734132] |
Chr13:23339272 [GRCh38]
Chr13:23913411 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000411674] |
Chr13:23336482 [GRCh38]
Chr13:23910621 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000411733]|Spastic paraplegia [RCV001861386] |
Chr13:23333072 [GRCh38]
Chr13:23907211 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2076del (p.Ser693fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411780] |
Chr13:23354536 [GRCh38]
Chr13:23928675 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411818]|Spastic paraplegia [RCV001384946] |
Chr13:23355383..23355384 [GRCh38]
Chr13:23929522..23929523 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000411855] |
Chr13:23335009 [GRCh38]
Chr13:23909148 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5744_5745del (p.His1915fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411869]|Spastic paraplegia [RCV001387964] |
Chr13:23338131..23338132 [GRCh38]
Chr13:23912270..23912271 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.11731del (p.Ser3911fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000411930] |
Chr13:23332145 [GRCh38]
Chr13:23906284 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000412006]|Spastic paraplegia [RCV001224413] |
Chr13:23338751 [GRCh38]
Chr13:23912890 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000412060]|Spastic paraplegia [RCV000704868]|not provided [RCV000599123] |
Chr13:23336603 [GRCh38]
Chr13:23910742 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.11042dup (p.Phe3682fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000412102] |
Chr13:23332833..23332834 [GRCh38]
Chr13:23906972..23906973 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3356del (p.Pro1119fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000412109]|Inborn genetic diseases [RCV002524622]|Spastic paraplegia [RCV001383371] |
Chr13:23340520 [GRCh38]
Chr13:23914659 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000412194] |
Chr13:23333012 [GRCh38]
Chr13:23907151 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000412241]|Spastic paraplegia [RCV001861393]|not provided [RCV000992769] |
Chr13:23333740 [GRCh38]
Chr13:23907879 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12540del (p.Glu4180fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000412310] |
Chr13:23331336 [GRCh38]
Chr13:23905475 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3066del (p.Asn1025fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000412355]|Inborn genetic diseases [RCV004022140] |
Chr13:23340810 [GRCh38]
Chr13:23914949 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000412381]|Spastic paraplegia [RCV002523873] |
Chr13:23341652 [GRCh38]
Chr13:23915791 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000412449]|Spastic paraplegia [RCV003588623] |
Chr13:23339781 [GRCh38]
Chr13:23913920 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5379del (p.Phe1793fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000412471]|Spastic paraplegia [RCV003588625] |
Chr13:23338497 [GRCh38]
Chr13:23912636 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000412481] |
Chr13:23336761..23336762 [GRCh38]
Chr13:23910900..23910901 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835845]|Inborn genetic diseases [RCV002527683]|Spastic paraplegia [RCV000538311]|not provided [RCV002473047] |
Chr13:23332159 [GRCh38]
Chr13:23906298 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2853C>A (p.His951Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835846]|Spastic paraplegia [RCV000558806]|not provided [RCV002473048] |
Chr13:23341023 [GRCh38]
Chr13:23915162 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274915]|Spastic paraplegia [RCV002523949]|not specified [RCV000413289] |
Chr13:23330338 [GRCh38]
Chr13:23904477 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829476]|Spastic paraplegia [RCV002525076]|not specified [RCV000516989] |
Chr13:23334703 [GRCh38]
Chr13:23908842 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.973G>A (p.Gly325Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112021]|Spastic paraplegia [RCV001083131]|not provided [RCV000518798] |
Chr13:23355639 [GRCh38]
Chr13:23929778 [GRCh37]
Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000408978] |
Chr13:23336015 [GRCh38]
Chr13:23910154 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7139del (p.Asn2380fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000408983]|Inborn genetic diseases [RCV000622821]|Spastic paraplegia [RCV001051132] |
Chr13:23336737 [GRCh38]
Chr13:23910876 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000409004] |
Chr13:23338407 [GRCh38]
Chr13:23912546 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8873del (p.Lys2958fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000409008] |
Chr13:23335003 [GRCh38]
Chr13:23909142 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111441]|Spastic paraplegia [RCV000863721]|not specified [RCV000413922] |
Chr13:23331992 [GRCh38]
Chr13:23906131 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 |
copy number loss |
See cases [RCV000449195] |
Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000449537] |
Chr13:23335885 [GRCh38]
Chr13:23910024 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| GRCh37/hg19 13q12.12(chr13:23981973-24479811)x3 |
copy number gain |
See cases [RCV000447294] |
Chr13:23981973..24479811 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23629150-24446887)x1 |
copy number loss |
See cases [RCV000447249] |
Chr13:23629150..24446887 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser) |
single nucleotide variant |
not provided [RCV000441442] |
Chr13:23334977 [GRCh38]
Chr13:23909116 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6576C>T (p.Ile2192=) |
single nucleotide variant |
Spastic paraplegia [RCV000553683]|not provided [RCV003403261] |
Chr13:23337300 [GRCh38]
Chr13:23911439 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
See cases [RCV000445886] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) |
single nucleotide variant |
not provided [RCV000425608] |
Chr13:23337364 [GRCh38]
Chr13:23911503 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001828396]|Spastic paraplegia [RCV001851025]|not provided [RCV000434730] |
Chr13:23338034 [GRCh38]
Chr13:23912173 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NC_000013.10:g.(?_23544669)_(24893183_?)del |
deletion |
Schizophrenia [RCV000416747] |
Chr13:23544669..24893183 [GRCh37]
Chr13:22442669..23791183 [NCBI36]
Chr13:13q12.12 |
likely pathogenic |
| GRCh37/hg19 13q12.12(chr13:23633501-24447228)x1 |
copy number loss |
See cases [RCV000448233] |
Chr13:23633501..24447228 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001271972]|Inborn genetic diseases [RCV004022883]|Spastic paraplegia [RCV000466492]|not provided [RCV000519338] |
Chr13:23355579 [GRCh38]
Chr13:23929718 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001833594]|Spastic paraplegia [RCV000466695]|not provided [RCV001288373] |
Chr13:23332922 [GRCh38]
Chr13:23907061 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3414T>C (p.Asn1138=) |
single nucleotide variant |
Spastic paraplegia [RCV000470280] |
Chr13:23340462 [GRCh38]
Chr13:23914601 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001283763]|Spastic paraplegia [RCV000470443] |
Chr13:23334312..23334315 [GRCh38]
Chr13:23908451..23908454 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001782958]|Hereditary spastic paraplegia [RCV001848816]|Spastic paraplegia [RCV000463355]|not provided [RCV000712993] |
Chr13:23334472 [GRCh38]
Chr13:23908611 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001823002]|Spastic paraplegia [RCV000460462] |
Chr13:23333578 [GRCh38]
Chr13:23907717 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13443C>G (p.Thr4481=) |
single nucleotide variant |
Spastic paraplegia [RCV000464209] |
Chr13:23330433 [GRCh38]
Chr13:23904572 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9846A>G (p.Pro3282=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274922]|Hereditary spastic paraplegia [RCV001848839]|Spastic paraplegia [RCV001083576]|not provided [RCV000516893] |
Chr13:23334030 [GRCh38]
Chr13:23908169 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.346-3T>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001828484]|Spastic paraplegia [RCV000457852] |
Chr13:23365280 [GRCh38]
Chr13:23939419 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2475dup (p.Val826fs) |
duplication |
not provided [RCV000479100] |
Chr13:23341400..23341401 [GRCh38]
Chr13:23915539..23915540 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs) |
deletion |
not provided [RCV000479181] |
Chr13:23334335..23334339 [GRCh38]
Chr13:23908474..23908478 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001785620]|Inborn genetic diseases [RCV000624366]|Spastic paraplegia [RCV000458276] |
Chr13:23332169 [GRCh38]
Chr13:23906308 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) |
single nucleotide variant |
Spastic paraplegia [RCV001084809]|not provided [RCV000518400] |
Chr13:23335749 [GRCh38]
Chr13:23909888 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000473252] |
Chr13:23331634 [GRCh38]
Chr13:23905773 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765121]|Hereditary spastic paraplegia [RCV001848817]|Spastic paraplegia [RCV000473308]|not provided [RCV000594324] |
Chr13:23335631 [GRCh38]
Chr13:23909770 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4265_4274dup (p.Asp1425_Ile1426insAlaTer) |
duplication |
not provided [RCV000486986] |
Chr13:23339601..23339602 [GRCh38]
Chr13:23913740..23913741 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7569G>A (p.Gly2523=) |
single nucleotide variant |
Spastic paraplegia [RCV000469738] |
Chr13:23336307 [GRCh38]
Chr13:23910446 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2669A>G (p.Asn890Ser) |
single nucleotide variant |
Spastic paraplegia [RCV000477351] |
Chr13:23341207 [GRCh38]
Chr13:23915346 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765124]|Hereditary spastic paraplegia [RCV001848875]|Spastic paraplegia [RCV000551798]|not specified [RCV000503684] |
Chr13:23338976 [GRCh38]
Chr13:23913115 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001835847]|Spastic paraplegia [RCV000531534] |
Chr13:23336670..23336671 [GRCh38]
Chr13:23910809..23910810 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| GRCh37/hg19 13q12.12(chr13:23533358-24958572)x1 |
copy number loss |
See cases [RCV000510304] |
Chr13:23533358..24958572 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 |
copy number loss |
See cases [RCV000510615] |
Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 |
copy number loss |
See cases [RCV000511657] |
Chr13:23552966..27027909 [GRCh37]
Chr13:13q12.12-12.13 |
likely pathogenic |
| NM_014363.6(SACS):c.11737G>C (p.Asp3913His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829412]|Spastic paraplegia [RCV002527093]|not provided [RCV000494097] |
Chr13:23332139 [GRCh38]
Chr13:23906278 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 |
copy number loss |
See cases [RCV000511873] |
Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) |
single nucleotide variant |
not provided [RCV000493370] |
Chr13:23337832 [GRCh38]
Chr13:23911971 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 |
copy number gain |
See cases [RCV000511880] |
Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.12150del (p.Phe4050fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669297] |
Chr13:23331726 [GRCh38]
Chr13:23905865 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13393del (p.Leu4465fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669780] |
Chr13:23330483 [GRCh38]
Chr13:23904622 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.815G>A (p.Arg272His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000670029]|Spastic paraplegia [RCV001855535] |
Chr13:23355797 [GRCh38]
Chr13:23929936 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674260]|Spastic paraplegia [RCV001851489]|not provided [RCV000523535] |
Chr13:23355005 [GRCh38]
Chr13:23929144 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV000668806] |
Chr13:23336457..23336458 [GRCh38]
Chr13:23910596..23910597 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668875] |
Chr13:23331822 [GRCh38]
Chr13:23905961 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000668994]|Spastic paraplegia [RCV001232544] |
Chr13:23331254 [GRCh38]
Chr13:23905393 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12766del (p.Asp4256fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669007]|Spastic paraplegia [RCV003750814] |
Chr13:23331110 [GRCh38]
Chr13:23905249 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2146C>T (p.His716Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001509573]|Hereditary spastic paraplegia [RCV001849011]|SACS-related condition [RCV003945590]|Spastic paraplegia [RCV001081696]|not provided [RCV000712966]|not specified [RCV001356419] |
Chr13:23353824 [GRCh38]
Chr13:23927963 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014363.6(SACS):c.1791A>T (p.Ser597=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113727]|SACS-related condition [RCV003935765]|Spastic paraplegia [RCV000633109] |
Chr13:23354821 [GRCh38]
Chr13:23928960 [GRCh37]
Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2234G>A (p.Arg745His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001271968]|Spastic paraplegia [RCV001088901]|not provided [RCV000555876] |
Chr13:23341642 [GRCh38]
Chr13:23915781 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783033]|Spastic paraplegia [RCV000557599]|not provided [RCV000992791] |
Chr13:23339248 [GRCh38]
Chr13:23913387 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000625765] |
Chr13:23339291 [GRCh38]
Chr13:23913430 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9893_9895del (p.Gly3298del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672020] |
Chr13:23333981..23333983 [GRCh38]
Chr13:23908120..23908122 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000578242]|Hereditary spastic paraplegia [RCV001848923]|Spastic paraplegia [RCV000536906] |
Chr13:23339132 [GRCh38]
Chr13:23913271 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.8026A>G (p.Thr2676Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003250073] |
Chr13:23335850 [GRCh38]
Chr13:23909989 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5884G>C (p.Gly1962Arg) |
single nucleotide variant |
not provided [RCV003313708] |
Chr13:23337992 [GRCh38]
Chr13:23912131 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13009C>G (p.His4337Asp) |
single nucleotide variant |
Spastic paraplegia [RCV000633036] |
Chr13:23330867 [GRCh38]
Chr13:23905006 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835887]|Hereditary spastic paraplegia [RCV001849004]|Spastic paraplegia [RCV000633037] |
Chr13:23335735 [GRCh38]
Chr13:23909874 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111812]|Hereditary spastic paraplegia [RCV001849005]|Spastic paraplegia [RCV000633040]|not provided [RCV001508703] |
Chr13:23339119 [GRCh38]
Chr13:23913258 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829781]|Spastic paraplegia [RCV000633042] |
Chr13:23355794 [GRCh38]
Chr13:23929933 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13474G>A (p.Val4492Met) |
single nucleotide variant |
Spastic paraplegia [RCV000633043] |
Chr13:23330402 [GRCh38]
Chr13:23904541 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12762C>T (p.Ser4254=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114730]|Hereditary spastic paraplegia [RCV001849009]|SACS-related condition [RCV003935763]|Spastic paraplegia [RCV000633091]|not provided [RCV001571934]|not specified [RCV001288701] |
Chr13:23331114 [GRCh38]
Chr13:23905253 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2599T>C (p.Tyr867His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783032]|Spastic paraplegia [RCV000560347]|not provided [RCV001508705] |
Chr13:23341277 [GRCh38]
Chr13:23915416 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000672372] |
Chr13:23340169..23340170 [GRCh38]
Chr13:23914308..23914309 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829568]|Spastic paraplegia [RCV000556409] |
Chr13:23335895 [GRCh38]
Chr13:23910034 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser) |
indel |
Spastic paraplegia [RCV000633024] |
Chr13:23355749..23355750 [GRCh38]
Chr13:23929888..23929889 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.972C>A (p.Asp324Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112022]|SACS-related condition [RCV003935762]|Spastic paraplegia [RCV001083526]|not provided [RCV000676374] |
Chr13:23355640 [GRCh38]
Chr13:23929779 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.279G>A (p.Thr93=) |
single nucleotide variant |
Spastic paraplegia [RCV001480457] |
Chr13:23368468 [GRCh38]
Chr13:23942607 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.260-9G>A |
single nucleotide variant |
Spastic paraplegia [RCV001084611]|not provided [RCV000712970] |
Chr13:23368496 [GRCh38]
Chr13:23942635 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672202] |
Chr13:23333450..23333452 [GRCh38]
Chr13:23907589..23907591 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.814C>T (p.Arg272Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000612398]|Hereditary ataxia [RCV000824757]|Spastic paraplegia [RCV001380372]|not provided [RCV001591363] |
Chr13:23355798 [GRCh38]
Chr13:23929937 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3282C>T (p.Asn1094=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109612]|Hereditary spastic paraplegia [RCV001848922]|Spastic paraplegia [RCV000537247] |
Chr13:23340594 [GRCh38]
Chr13:23914733 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000625698]|Hereditary spastic paraplegia [RCV001848999]|Spastic paraplegia [RCV001439415] |
Chr13:23335297 [GRCh38]
Chr13:23909436 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003243211]|not provided [RCV000596852] |
Chr13:23331977 [GRCh38]
Chr13:23906116 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765122]|Inborn genetic diseases [RCV002528313]|Spastic paraplegia [RCV000538701]|not provided [RCV003482278] |
Chr13:23337236 [GRCh38]
Chr13:23911375 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829567]|Spastic paraplegia [RCV000538763] |
Chr13:23337440 [GRCh38]
Chr13:23911579 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10668G>A (p.Leu3556=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783099]|Spastic paraplegia [RCV001086031]|not provided [RCV000676351] |
Chr13:23333208 [GRCh38]
Chr13:23907347 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7634del (p.Met2545fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003314472] |
Chr13:23336242 [GRCh38]
Chr13:23910381 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000672222] |
Chr13:23330471 [GRCh38]
Chr13:23904610 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 |
copy number loss |
See cases [RCV000512192] |
Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000625697]|Inborn genetic diseases [RCV004025286]|Spastic paraplegia [RCV002531924] |
Chr13:23334153 [GRCh38]
Chr13:23908292 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672354] |
Chr13:23341437..23341438 [GRCh38]
Chr13:23915576..23915577 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10644del (p.Phe3548fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000625764] |
Chr13:23333232 [GRCh38]
Chr13:23907371 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000625786] |
Chr13:23333063 [GRCh38]
Chr13:23907202 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835013]|Spastic paraplegia [RCV000633046] |
Chr13:23354589 [GRCh38]
Chr13:23928728 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5858A>T (p.His1953Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276940]|Spastic paraplegia [RCV000633048] |
Chr13:23338018 [GRCh38]
Chr13:23912157 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4149T>C (p.His1383=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275197]|Spastic paraplegia [RCV000633019] |
Chr13:23339727 [GRCh38]
Chr13:23913866 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.83C>T (p.Ser28Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835012]|Inborn genetic diseases [RCV002529815]|Spastic paraplegia [RCV000633012] |
Chr13:23375207 [GRCh38]
Chr13:23949346 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.5307T>C (p.His1769=) |
single nucleotide variant |
SACS-related condition [RCV003935761]|Spastic paraplegia [RCV000633065]|not specified [RCV001289177] |
Chr13:23338569 [GRCh38]
Chr13:23912708 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.10305T>C (p.Ser3435=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109204]|Hereditary spastic paraplegia [RCV001849010]|SACS-related condition [RCV003935764]|Spastic paraplegia [RCV000633092]|not provided [RCV001558026]|not specified [RCV001288369] |
Chr13:23333571 [GRCh38]
Chr13:23907710 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002062107]|not provided [RCV000596296] |
Chr13:23355410 [GRCh38]
Chr13:23929549 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1255A>G (p.Ile419Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002532604]|Spastic paraplegia [RCV002532605]|not provided [RCV000596432] |
Chr13:23355357 [GRCh38]
Chr13:23929496 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|uncertain significance |
| NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275193]|Spastic paraplegia [RCV002527402]|not provided [RCV000513129] |
Chr13:23338144 [GRCh38]
Chr13:23912283 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000622889] |
Chr13:23335978 [GRCh38]
Chr13:23910117 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10536del (p.Ile3513fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673391] |
Chr13:23333340 [GRCh38]
Chr13:23907479 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000673402] |
Chr13:23337824 [GRCh38]
Chr13:23911963 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673405]|Spastic paraplegia [RCV001861822] |
Chr13:23331657..23331658 [GRCh38]
Chr13:23905796..23905797 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000664815] |
Chr13:23333220..23333225 [GRCh38]
Chr13:23907359..23907364 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4168del (p.Ile1391fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673214] |
Chr13:23339708 [GRCh38]
Chr13:23913847 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673219] |
Chr13:23334112..23334113 [GRCh38]
Chr13:23908251..23908252 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624354]|Spastic paraplegia [RCV003588659] |
Chr13:23354906 [GRCh38]
Chr13:23929045 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672014]|Hereditary spastic paraplegia [RCV001849040]|not provided [RCV002473102] |
Chr13:23338725..23338727 [GRCh38]
Chr13:23912864..23912866 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000672108] |
Chr13:23330690..23330691 [GRCh38]
Chr13:23904829..23904830 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000672847] |
Chr13:23338866 [GRCh38]
Chr13:23913005 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000673080]|Spastic paraplegia [RCV003750816] |
Chr13:23330600 [GRCh38]
Chr13:23904739 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673088] |
Chr13:23337074..23337076 [GRCh38]
Chr13:23911213..23911215 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11373dup (p.Arg3792fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000673091]|Spastic paraplegia [RCV002531332] |
Chr13:23332502..23332503 [GRCh38]
Chr13:23906641..23906642 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000673160] |
Chr13:23337746 [GRCh38]
Chr13:23911885 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2329dup (p.Ser777fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000673181] |
Chr13:23341546..23341547 [GRCh38]
Chr13:23915685..23915686 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274916]|Spastic paraplegia [RCV000701275] |
Chr13:23330971 [GRCh38]
Chr13:23905110 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000664233]|Spastic paraplegia [RCV000691411] |
Chr13:23340970..23340973 [GRCh38]
Chr13:23915109..23915112 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000672257]|Spastic paraplegia [RCV001387162] |
Chr13:23337521 [GRCh38]
Chr13:23911660 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000672553]|Spastic paraplegia [RCV002532128] |
Chr13:23338157 [GRCh38]
Chr13:23912296 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000671096] |
Chr13:23341589 [GRCh38]
Chr13:23915728 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000671127] |
Chr13:23331188 [GRCh38]
Chr13:23905327 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.961C>T (p.Arg321Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000671337]|Spastic paraplegia [RCV001868253]|not provided [RCV001090243] |
Chr13:23355651 [GRCh38]
Chr13:23929790 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2186-4A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000664864]|Spastic paraplegia [RCV001512029] |
Chr13:23341694 [GRCh38]
Chr13:23915833 [GRCh37]
Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673586]|not provided [RCV000734417] |
Chr13:23333053..23333054 [GRCh38]
Chr13:23907192..23907193 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000665003] |
Chr13:23334515..23334517 [GRCh38]
Chr13:23908654..23908656 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673637] |
Chr13:23337875..23337877 [GRCh38]
Chr13:23912014..23912016 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6163del (p.Gln2055fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673654] |
Chr13:23337713 [GRCh38]
Chr13:23911852 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000699567] |
Chr13:23331056 [GRCh38]
Chr13:23905195 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000670377] |
Chr13:23339701..23339703 [GRCh38]
Chr13:23913840..23913842 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000670397] |
Chr13:23331441..23331442 [GRCh38]
Chr13:23905580..23905581 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9447del (p.Val3150fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000670775] |
Chr13:23334429 [GRCh38]
Chr13:23908568 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000670813] |
Chr13:23340449 [GRCh38]
Chr13:23914588 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6001dup (p.Arg2001fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000670859] |
Chr13:23337874..23337875 [GRCh38]
Chr13:23912013..23912014 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000670973] |
Chr13:23331215 [GRCh38]
Chr13:23905354 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12980del (p.Lys4327fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000671013]|Spastic paraplegia [RCV001380633] |
Chr13:23330896 [GRCh38]
Chr13:23905035 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001692255]|not provided [RCV000658672] |
Chr13:23340176 [GRCh38]
Chr13:23914315 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8888del (p.Phe2963fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000669495] |
Chr13:23334988 [GRCh38]
Chr13:23909127 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3556dup (p.Met1186fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000671609] |
Chr13:23340319..23340320 [GRCh38]
Chr13:23914458..23914459 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000671783] |
Chr13:23330262 [GRCh38]
Chr13:23904401 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5719del (p.Arg1907fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000671785] |
Chr13:23338157 [GRCh38]
Chr13:23912296 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000664967] |
Chr13:23336651..23336652 [GRCh38]
Chr13:23910790..23910791 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000673666]|Hereditary spastic paraplegia [RCV001849042]|Spastic paraplegia [RCV002060828] |
Chr13:23355608 [GRCh38]
Chr13:23929747 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9898_9900del (p.Val3300del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000665073] |
Chr13:23333976..23333978 [GRCh38]
Chr13:23908115..23908117 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002531378]|not provided [RCV000676360] |
Chr13:23336588 [GRCh38]
Chr13:23910727 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113725]|Spastic paraplegia [RCV001049324]|not provided [RCV000676369] |
Chr13:23354706 [GRCh38]
Chr13:23928845 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000674086] |
Chr13:23332836..23332837 [GRCh38]
Chr13:23906975..23906976 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000666783] |
Chr13:23332726..23332727 [GRCh38]
Chr13:23906865..23906866 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668231] |
Chr13:23331099..23331101 [GRCh38]
Chr13:23905238..23905240 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000668288] |
Chr13:23336957 [GRCh38]
Chr13:23911096 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668420] |
Chr13:23331039..23331041 [GRCh38]
Chr13:23905178..23905180 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4385dup (p.Arg1463fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000671599] |
Chr13:23339490..23339491 [GRCh38]
Chr13:23913629..23913630 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000674356] |
Chr13:23337405..23337407 [GRCh38]
Chr13:23911544..23911546 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666804] |
Chr13:23331465..23331469 [GRCh38]
Chr13:23905604..23905608 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666850] |
Chr13:23336420..23336428 [GRCh38]
Chr13:23910559..23910567 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668565] |
Chr13:23339894..23339898 [GRCh38]
Chr13:23914033..23914037 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000672333] |
Chr13:23333842 [GRCh38]
Chr13:23907981 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674504]|Spastic paraplegia [RCV002532164] |
Chr13:23335499 [GRCh38]
Chr13:23909638 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3633del (p.Ala1212fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666037] |
Chr13:23340243 [GRCh38]
Chr13:23914382 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1173T>A (p.Ser391=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000666880]|Spastic paraplegia [RCV002532057] |
Chr13:23355439 [GRCh38]
Chr13:23929578 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2627_2631del (p.Val876fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672777] |
Chr13:23341245..23341249 [GRCh38]
Chr13:23915384..23915388 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13360del (p.Ala4454fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000674757] |
Chr13:23330516 [GRCh38]
Chr13:23904655 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674771] |
Chr13:23330336 [GRCh38]
Chr13:23904475 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000666271] |
Chr13:23332697 [GRCh38]
Chr13:23906836 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673644] |
Chr13:23335376..23335379 [GRCh38]
Chr13:23909515..23909518 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000669953] |
Chr13:23330231 [GRCh38]
Chr13:23904370 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10050del (p.His3351fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000665203] |
Chr13:23333826 [GRCh38]
Chr13:23907965 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000665289] |
Chr13:23340502..23340504 [GRCh38]
Chr13:23914641..23914643 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000665334] |
Chr13:23334097..23334099 [GRCh38]
Chr13:23908236..23908238 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667332] |
Chr13:23339975 [GRCh38]
Chr13:23914114 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8574_8577del (p.His2859fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000667339] |
Chr13:23335299..23335302 [GRCh38]
Chr13:23909438..23909441 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667371]|Spastic paraplegia [RCV001855479] |
Chr13:23335149 [GRCh38]
Chr13:23909288 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6172del (p.Ser2058fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000667372] |
Chr13:23337704 [GRCh38]
Chr13:23911843 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000670492]|Spastic paraplegia [RCV001389177] |
Chr13:23339308..23339311 [GRCh38]
Chr13:23913447..23913450 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000670810] |
Chr13:23330592 [GRCh38]
Chr13:23904731 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6068del (p.Asn2023fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000670921] |
Chr13:23337808 [GRCh38]
Chr13:23911947 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000673869] |
Chr13:23338637..23338638 [GRCh38]
Chr13:23912776..23912777 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000670135] |
Chr13:23337520..23337523 [GRCh38]
Chr13:23911659..23911662 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000677657]|Spastic paraplegia [RCV003750818] |
Chr13:23337535..23337538 [GRCh38]
Chr13:23911674..23911677 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000670787] |
Chr13:23337015..23337017 [GRCh38]
Chr13:23911154..23911156 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000670846] |
Chr13:23334248..23334251 [GRCh38]
Chr13:23908387..23908390 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000670862] |
Chr13:23340419 [GRCh38]
Chr13:23914558 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002485565]|Inborn genetic diseases [RCV002532174]|not provided [RCV000676349] |
Chr13:23331934 [GRCh38]
Chr13:23906073 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674023] |
Chr13:23331941 [GRCh38]
Chr13:23906080 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667512] |
Chr13:23341013 [GRCh38]
Chr13:23915152 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667624] |
Chr13:23338237 [GRCh38]
Chr13:23912376 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7868del (p.Gly2623fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000671528] |
Chr13:23336008 [GRCh38]
Chr13:23910147 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000671647] |
Chr13:23337937..23337939 [GRCh38]
Chr13:23912076..23912078 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000671709] |
Chr13:23332248..23332249 [GRCh38]
Chr13:23906387..23906388 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674140] |
Chr13:23341442 [GRCh38]
Chr13:23915581 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000665635] |
Chr13:23339676..23339677 [GRCh38]
Chr13:23913815..23913816 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8956C>G (p.His2986Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674258]|Spastic paraplegia [RCV002531348] |
Chr13:23334920 [GRCh38]
Chr13:23909059 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8305dup (p.Ile2769fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000665991] |
Chr13:23335570..23335571 [GRCh38]
Chr13:23909709..23909710 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000671001] |
Chr13:23338595 [GRCh38]
Chr13:23912734 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000671025] |
Chr13:23331553 [GRCh38]
Chr13:23905692 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000671109] |
Chr13:23332103..23332104 [GRCh38]
Chr13:23906242..23906243 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11428dup (p.Glu3810fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000674129] |
Chr13:23332447..23332448 [GRCh38]
Chr13:23906586..23906587 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000674267] |
Chr13:23340349..23340353 [GRCh38]
Chr13:23914488..23914492 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11713del (p.Ala3906fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000667644] |
Chr13:23332163 [GRCh38]
Chr13:23906302 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667694] |
Chr13:23330527 [GRCh38]
Chr13:23904666 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667851] |
Chr13:23335396 [GRCh38]
Chr13:23909535 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672744] |
Chr13:23338257..23338258 [GRCh38]
Chr13:23912396..23912397 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4233dup (p.Leu1412fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000672857] |
Chr13:23339642..23339643 [GRCh38]
Chr13:23913781..23913782 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000664537] |
Chr13:23355192 [GRCh38]
Chr13:23929331 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000666291] |
Chr13:23336432..23336433 [GRCh38]
Chr13:23910571..23910572 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.832C>T (p.Gln278Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000666383] |
Chr13:23355780 [GRCh38]
Chr13:23929919 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000671400] |
Chr13:23333119..23333121 [GRCh38]
Chr13:23907258..23907260 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000671465] |
Chr13:23336075..23336077 [GRCh38]
Chr13:23910214..23910216 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000671777] |
Chr13:23340043..23340044 [GRCh38]
Chr13:23914182..23914183 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000671797] |
Chr13:23337885..23337886 [GRCh38]
Chr13:23912024..23912025 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4495dup (p.Met1499fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000671834] |
Chr13:23339380..23339381 [GRCh38]
Chr13:23913519..23913520 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6231_6233del (p.Met2077del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668142] |
Chr13:23337643..23337645 [GRCh38]
Chr13:23911782..23911784 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000668148] |
Chr13:23355176..23355177 [GRCh38]
Chr13:23929315..23929316 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.605-1G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000668193] |
Chr13:23356008 [GRCh38]
Chr13:23930147 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000666608] |
Chr13:23337467 [GRCh38]
Chr13:23911606 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672019]|See cases [RCV002252206]|not provided [RCV002473103] |
Chr13:23341257..23341262 [GRCh38]
Chr13:23915396..23915401 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3021_3023del (p.Glu1008del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000674580] |
Chr13:23340853..23340855 [GRCh38]
Chr13:23914992..23914994 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8221del (p.Asn2742fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666128] |
Chr13:23335655 [GRCh38]
Chr13:23909794 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5122del (p.Ala1708fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668294] |
Chr13:23338754 [GRCh38]
Chr13:23912893 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000668407] |
Chr13:23340202 [GRCh38]
Chr13:23914341 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8108G>A (p.Arg2703His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000668456]|Spastic paraplegia [RCV001868222]|not provided [RCV001576889] |
Chr13:23335768 [GRCh38]
Chr13:23909907 [GRCh37]
Chr13:13q12.12 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668473]|Spastic paraplegia [RCV003750813] |
Chr13:23333493..23333497 [GRCh38]
Chr13:23907632..23907636 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7903del (p.Cys2635fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000668512]|Spastic paraplegia [RCV002532073] |
Chr13:23335973 [GRCh38]
Chr13:23910112 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000673894] |
Chr13:23333789 [GRCh38]
Chr13:23907928 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000665439] |
Chr13:23336349 [GRCh38]
Chr13:23910488 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666881] |
Chr13:23336795..23336797 [GRCh38]
Chr13:23910934..23910936 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000667115] |
Chr13:23334348..23334350 [GRCh38]
Chr13:23908487..23908489 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000674839]|Spastic paraplegia [RCV001381028] |
Chr13:23331040..23331041 [GRCh38]
Chr13:23905179..23905180 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000674844]|Spastic paraplegia [RCV001204188] |
Chr13:23338277..23338278 [GRCh38]
Chr13:23912416..23912417 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000674868] |
Chr13:23336766 [GRCh38]
Chr13:23910905 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000668760] |
Chr13:23355759..23355761 [GRCh38]
Chr13:23929898..23929900 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV000672445] |
Chr13:23337283..23337284 [GRCh38]
Chr13:23911422..23911423 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000672515] |
Chr13:23333851..23333852 [GRCh38]
Chr13:23907990..23907991 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.604+1G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000666450]|Spastic paraplegia [RCV003750811] |
Chr13:23358334 [GRCh38]
Chr13:23932473 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673787] |
Chr13:23333366..23333368 [GRCh38]
Chr13:23907505..23907507 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4162_4164del (p.Ser1388del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000674669] |
Chr13:23339712..23339714 [GRCh38]
Chr13:23913851..23913853 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5919del (p.Glu1974fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000665272] |
Chr13:23337957 [GRCh38]
Chr13:23912096 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000673945] |
Chr13:23331856 [GRCh38]
Chr13:23905995 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830473]|Spastic paraplegia [RCV002531379]|not provided [RCV000676367] |
Chr13:23340370 [GRCh38]
Chr13:23914509 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11877dup (p.Lys3960Ter) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000665628] |
Chr13:23331998..23331999 [GRCh38]
Chr13:23906137..23906138 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9498del (p.Phe3166fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000673287] |
Chr13:23334378 [GRCh38]
Chr13:23908517 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11506_11521del (p.His3836fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000674360]|Spastic paraplegia [RCV003750817] |
Chr13:23332355..23332370 [GRCh38]
Chr13:23906494..23906509 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000674437] |
Chr13:23333371..23333375 [GRCh38]
Chr13:23907510..23907514 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000674439] |
Chr13:23337206..23337208 [GRCh38]
Chr13:23911345..23911347 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666183] |
Chr13:23330755..23330756 [GRCh38]
Chr13:23904894..23904895 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000664740] |
Chr13:23332873..23332874 [GRCh38]
Chr13:23907012..23907013 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2533C>T (p.Gln845Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000664830] |
Chr13:23341343 [GRCh38]
Chr13:23915482 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000664891] |
Chr13:23338462 [GRCh38]
Chr13:23912601 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000673532] |
Chr13:23331041..23331043 [GRCh38]
Chr13:23905180..23905182 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000666635] |
Chr13:23411238 [GRCh38]
Chr13:23985377 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12779del (p.Ser4260fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666945] |
Chr13:23331097 [GRCh38]
Chr13:23905236 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000667378] |
Chr13:23332017..23332019 [GRCh38]
Chr13:23906156..23906158 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667379] |
Chr13:23335847 [GRCh38]
Chr13:23909986 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000667425]|Spastic paraplegia [RCV003767955] |
Chr13:23338801 [GRCh38]
Chr13:23912940 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000667429] |
Chr13:23334497..23334501 [GRCh38]
Chr13:23908636..23908640 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001271967]|Inborn genetic diseases [RCV002533606]|Spastic paraplegia [RCV000700961]|not provided [RCV002473121] |
Chr13:23341384 [GRCh38]
Chr13:23915523 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000664974]|Spastic paraplegia [RCV001387161]|not provided [RCV001291595] |
Chr13:23332610..23332611 [GRCh38]
Chr13:23906749..23906750 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6663del (p.Lys2221fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000666605]|Hereditary spastic paraplegia [RCV001849038] |
Chr13:23337213 [GRCh38]
Chr13:23911352 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000667508]|Spastic paraplegia [RCV001385440] |
Chr13:23341176..23341177 [GRCh38]
Chr13:23915315..23915316 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000667641] |
Chr13:23338762..23338763 [GRCh38]
Chr13:23912901..23912902 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23519916-24936994)x3 |
copy number gain |
not provided [RCV000683548] |
Chr13:23519916..24936994 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 |
copy number loss |
not provided [RCV000683564] |
Chr13:20008480..25534121 [GRCh37]
Chr13:13q12.11-12.13 |
pathogenic |
| GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 |
copy number loss |
not provided [RCV000683547] |
Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23525351-24910183)x3 |
copy number gain |
not provided [RCV000683546] |
Chr13:23525351..24910183 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 |
copy number gain |
not provided [RCV000683572] |
Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1 |
pathogenic |
| NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784312]|Spastic paraplegia [RCV000688531]|not provided [RCV001756169] |
Chr13:23341582 [GRCh38]
Chr13:23915721 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273195]|Spastic paraplegia [RCV001491310]|not provided [RCV000712954] |
Chr13:23333695 [GRCh38]
Chr13:23907834 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11781G>A (p.Ala3927=) |
single nucleotide variant |
Spastic paraplegia [RCV001086088]|not provided [RCV000712958] |
Chr13:23332095 [GRCh38]
Chr13:23906234 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274918]|Spastic paraplegia [RCV001049336]|not provided [RCV003480803]|not specified [RCV001644778] |
Chr13:23331728 [GRCh38]
Chr13:23905867 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274917]|Spastic paraplegia [RCV002532942]|not provided [RCV000712960] |
Chr13:23331616 [GRCh38]
Chr13:23905755 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) |
single nucleotide variant |
not provided [RCV000712991] |
Chr13:23335796 [GRCh38]
Chr13:23909935 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784351]|Spastic paraplegia [RCV000812548]|not provided [RCV000712964] |
Chr13:23354766 [GRCh38]
Chr13:23928905 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784352]|Spastic paraplegia [RCV001244618]|not provided [RCV000712965] |
Chr13:23354588 [GRCh38]
Chr13:23928727 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765118]|Spastic paraplegia [RCV001034278]|not provided [RCV000712994] |
Chr13:23334314 [GRCh38]
Chr13:23908453 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002532944]|not provided [RCV000712967] |
Chr13:23341405 [GRCh38]
Chr13:23915544 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3017A>G (p.His1006Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001271966]|Spastic paraplegia [RCV002532945]|not provided [RCV000712973] |
Chr13:23340859 [GRCh38]
Chr13:23914998 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys) |
single nucleotide variant |
not provided [RCV000712976] |
Chr13:23338960 [GRCh38]
Chr13:23913099 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.494C>T (p.Thr165Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835937]|not provided [RCV000712977] |
Chr13:23358445 [GRCh38]
Chr13:23932584 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001849074]|SACS-related condition [RCV003907976]|Spastic paraplegia [RCV001086156]|not provided [RCV002245624]|not specified [RCV001644779] |
Chr13:23338891 [GRCh38]
Chr13:23913030 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830584]|Inborn genetic diseases [RCV002534514]|Spastic paraplegia [RCV002534515]|not provided [RCV000712980] |
Chr13:23337698 [GRCh38]
Chr13:23911837 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.6456T>C (p.Gly2152=) |
single nucleotide variant |
not provided [RCV000712982] |
Chr13:23337420 [GRCh38]
Chr13:23911559 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala) |
single nucleotide variant |
not provided [RCV000712983] |
Chr13:23337361 [GRCh38]
Chr13:23911500 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.605A>G (p.Asp202Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000701524] |
Chr13:23356007 [GRCh38]
Chr13:23930146 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1869del (p.Arg624fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472245]|Spastic paraplegia [RCV000704212] |
Chr13:23354743 [GRCh38]
Chr13:23928882 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000707311] |
Chr13:23330968 [GRCh38]
Chr13:23905107 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275189]|Inborn genetic diseases [RCV002547157]|Spastic paraplegia [RCV000690739] |
Chr13:23336776 [GRCh38]
Chr13:23910915 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) |
indel |
Spastic paraplegia [RCV000705296] |
Chr13:23330497..23330498 [GRCh38]
Chr13:23904636..23904637 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1662C>T (p.Ser554=) |
single nucleotide variant |
Spastic paraplegia [RCV002532943]|not provided [RCV000712963] |
Chr13:23354950 [GRCh38]
Chr13:23929089 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter) |
single nucleotide variant |
not provided [RCV000712955] |
Chr13:23333650 [GRCh38]
Chr13:23907789 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830583]|Inborn genetic diseases [RCV002534513]|Spastic paraplegia [RCV003750819]|not provided [RCV000712956] |
Chr13:23332715 [GRCh38]
Chr13:23906854 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825423]|Spastic paraplegia [RCV002532941]|not provided [RCV000712957] |
Chr13:23332496 [GRCh38]
Chr13:23906635 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.247T>C (p.Leu83=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825424]|Spastic paraplegia [RCV003750820]|not provided [RCV000712968] |
Chr13:23371090 [GRCh38]
Chr13:23945229 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2776A>G (p.Ile926Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111915]|Hereditary spastic paraplegia [RCV001849073]|Spastic paraplegia [RCV001257223]|not provided [RCV000712972] |
Chr13:23341100 [GRCh38]
Chr13:23915239 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5744A>G (p.His1915Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765123]|Spastic paraplegia [RCV001245813]|not provided [RCV000712979] |
Chr13:23338132 [GRCh38]
Chr13:23912271 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000700914] |
Chr13:23335519 [GRCh38]
Chr13:23909658 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9551G>A (p.Arg3184His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829908]|Hereditary spastic paraplegia [RCV001849054]|Spastic paraplegia [RCV000689777] |
Chr13:23334325 [GRCh38]
Chr13:23908464 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111442]|Spastic paraplegia [RCV000698539] |
Chr13:23332549 [GRCh38]
Chr13:23906688 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8487G>A (p.Met2829Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000709971] |
Chr13:23335389 [GRCh38]
Chr13:23909528 [GRCh37]
Chr13:13q12.12 |
not provided |
| NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala) |
single nucleotide variant |
Spastic paraplegia [RCV000704408] |
Chr13:23334868 [GRCh38]
Chr13:23909007 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830494]|Spastic paraplegia [RCV000688293]|not provided [RCV002272330] |
Chr13:23330770 [GRCh38]
Chr13:23904909 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.1525A>G (p.Ile509Val) |
single nucleotide variant |
Spastic paraplegia [RCV000702657] |
Chr13:23355087 [GRCh38]
Chr13:23929226 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12682G>C (p.Asp4228His) |
single nucleotide variant |
Spastic paraplegia [RCV000688629] |
Chr13:23331194 [GRCh38]
Chr13:23905333 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5906A>G (p.His1969Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825352]|Spastic paraplegia [RCV000693766] |
Chr13:23337970 [GRCh38]
Chr13:23912109 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2580A>G (p.Gln860=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000765125]|Hereditary spastic paraplegia [RCV001849072]|Spastic paraplegia [RCV001087176]|not provided [RCV000712969] |
Chr13:23341296 [GRCh38]
Chr13:23915435 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830586]|not provided [RCV000712984] |
Chr13:23337017 [GRCh38]
Chr13:23911156 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys) |
single nucleotide variant |
not provided [RCV000712985] |
Chr13:23336944 [GRCh38]
Chr13:23911083 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825425]|not provided [RCV000712987] |
Chr13:23336883 [GRCh38]
Chr13:23911022 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7171G>A (p.Val2391Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825426]|not provided [RCV000712988] |
Chr13:23336705 [GRCh38]
Chr13:23910844 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784353]|Spastic paraplegia [RCV002534516]|not provided [RCV000712989] |
Chr13:23336594 [GRCh38]
Chr13:23910733 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276935]|Spastic paraplegia [RCV000800081]|not provided [RCV000712992] |
Chr13:23335337 [GRCh38]
Chr13:23909476 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825427]|Spastic paraplegia [RCV002532946]|not provided [RCV000712995] |
Chr13:23334196 [GRCh38]
Chr13:23908335 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NC_000013.11:g.(?_23093196)_(23411259_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000707933] |
Chr13:23093196..23411259 [GRCh38]
Chr13:23667335..23985398 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) |
deletion |
Spastic paraplegia [RCV000696681] |
Chr13:23332943 [GRCh38]
Chr13:23907082 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001271970]|SACS-related condition [RCV003953240]|Spastic paraplegia [RCV000697081]|not provided [RCV001756213] |
Chr13:23355050 [GRCh38]
Chr13:23929189 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu) |
single nucleotide variant |
Spastic paraplegia [RCV000706307] |
Chr13:23333921 [GRCh38]
Chr13:23908060 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001579251] |
Chr13:23336707 [GRCh38]
Chr13:23910846 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NC_000013.10:g.(?_23667335)_(23985388_?)dup |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000815274] |
Chr13:23093196..23411249 [GRCh38]
Chr13:23667335..23985388 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 |
copy number gain |
not provided [RCV000738115] |
Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NC_000013.11:g.(?_22968338)_(24323208_?)del |
deletion |
Schizophrenia [RCV000754142] |
Chr13:22968338..24323208 [GRCh38]
Chr13:13q12.12 |
likely pathogenic |
| GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 |
copy number gain |
not provided [RCV000750643] |
Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q12.12(chr13:23546238-25021200)x3 |
copy number gain |
not provided [RCV000750668] |
Chr13:23546238..25021200 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002568880]|not provided [RCV001529804] |
Chr13:23330700 [GRCh38]
Chr13:23904839 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2451C>T (p.Leu817=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277264]|Spastic paraplegia [RCV001410793] |
Chr13:23341425 [GRCh38]
Chr13:23915564 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001647238] |
Chr13:23339446 [GRCh38]
Chr13:23913585 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830091]|not provided [RCV001287907] |
Chr13:23337244 [GRCh38]
Chr13:23911383 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830093]|not provided [RCV001287915] |
Chr13:23336470 [GRCh38]
Chr13:23910609 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.751G>A (p.Val251Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003750859]|not provided [RCV001287916] |
Chr13:23355861 [GRCh38]
Chr13:23930000 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001542778] |
Chr13:23331857..23331865 [GRCh38]
Chr13:23905996..23906004 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109205]|Spastic paraplegia [RCV000862368] |
Chr13:23333578 [GRCh38]
Chr13:23907717 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.11509del (p.Gln3837fs) |
deletion |
not provided [RCV001543456] |
Chr13:23332367 [GRCh38]
Chr13:23906506 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5595A>C (p.Pro1865=) |
single nucleotide variant |
Spastic paraplegia [RCV002065926] |
Chr13:23338281 [GRCh38]
Chr13:23912420 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7497C>T (p.Val2499=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115052]|Spastic paraplegia [RCV000873350] |
Chr13:23336379 [GRCh38]
Chr13:23910518 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001579253] |
Chr13:23334821 [GRCh38]
Chr13:23908960 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2034C>A (p.Pro678=) |
single nucleotide variant |
Spastic paraplegia [RCV001396754] |
Chr13:23354578 [GRCh38]
Chr13:23928717 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10200C>T (p.Ser3400=) |
single nucleotide variant |
Spastic paraplegia [RCV000978731] |
Chr13:23333676 [GRCh38]
Chr13:23907815 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277261]|Spastic paraplegia [RCV001080295]|not provided [RCV000173863] |
Chr13:23340802 [GRCh38]
Chr13:23914941 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.3328dup (p.Ile1110fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV000169583]|Spastic paraplegia [RCV001850406] |
Chr13:23340547..23340548 [GRCh38]
Chr13:23914686..23914687 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000169603]|Spastic paraplegia [RCV001850407]|not provided [RCV000734960] |
Chr13:23336600 [GRCh38]
Chr13:23910739 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829474]|not specified [RCV000517189] |
Chr13:23340634 [GRCh38]
Chr13:23914773 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*471C>T |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV000326918]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000381497] |
Chr13:23329665 [GRCh38]
Chr13:23903804 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) |
copy number gain |
See cases [RCV000449142] |
Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436287-115107733) |
copy number gain |
See cases [RCV000510405] |
Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.3111A>G (p.Leu1037=) |
single nucleotide variant |
Spastic paraplegia [RCV000869814] |
Chr13:23340765 [GRCh38]
Chr13:23914904 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.20+190T>G |
single nucleotide variant |
not provided [RCV001575188] |
Chr13:23411030 [GRCh38]
Chr13:23985169 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13374C>T (p.Phe4458=) |
single nucleotide variant |
Spastic paraplegia [RCV000861260]|not specified [RCV001288703] |
Chr13:23330502 [GRCh38]
Chr13:23904641 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000761525] |
Chr13:23330422 [GRCh38]
Chr13:23904561 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000761546] |
Chr13:23339773 [GRCh38]
Chr13:23913912 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000761547]|Spastic paraplegia [RCV002533869] |
Chr13:23340821 [GRCh38]
Chr13:23914960 [GRCh37]
Chr13:13q12.12 |
pathogenic|uncertain significance |
| NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111443]|Hereditary spastic paraplegia [RCV001849092]|Spastic paraplegia [RCV001241078]|not provided [RCV000761851] |
Chr13:23332810 [GRCh38]
Chr13:23906949 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12367A>G (p.Met4123Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002549894]|Spastic paraplegia [RCV002549895]|not provided [RCV000995031] |
Chr13:23331509 [GRCh38]
Chr13:23905648 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.2404C>T (p.Leu802Phe) |
single nucleotide variant |
Spastic paraplegia [RCV001056499] |
Chr13:23341472 [GRCh38]
Chr13:23915611 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10256G>A (p.Arg3419His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827567]|Spastic paraplegia [RCV002538571]|not provided [RCV001663543] |
Chr13:23333620 [GRCh38]
Chr13:23907759 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr) |
single nucleotide variant |
not provided [RCV001663549] |
Chr13:23354643 [GRCh38]
Chr13:23928782 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2092A>T (p.Arg698Trp) |
single nucleotide variant |
Spastic paraplegia [RCV002539648]|not provided [RCV001663551] |
Chr13:23354520 [GRCh38]
Chr13:23928659 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578940] |
Chr13:23340703 [GRCh38]
Chr13:23914842 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832306]|Spastic paraplegia [RCV001869375]|not provided [RCV000992779] |
Chr13:23355221 [GRCh38]
Chr13:23929360 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1498G>A (p.Val500Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827138]|Spastic paraplegia [RCV002550645]|not provided [RCV000992780] |
Chr13:23355114 [GRCh38]
Chr13:23929253 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832308]|Inborn genetic diseases [RCV004030145]|Spastic paraplegia [RCV001858756]|not provided [RCV000992788] |
Chr13:23339558 [GRCh38]
Chr13:23913697 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276937]|not provided [RCV000992798] |
Chr13:23336614 [GRCh38]
Chr13:23910753 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly) |
single nucleotide variant |
not provided [RCV000992803] |
Chr13:23334122 [GRCh38]
Chr13:23908261 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7454A>T (p.His2485Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115053] |
Chr13:23336422 [GRCh38]
Chr13:23910561 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2460C>T (p.Leu820=) |
single nucleotide variant |
Spastic paraplegia [RCV000983602] |
Chr13:23341416 [GRCh38]
Chr13:23915555 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2653T>C (p.Leu885=) |
single nucleotide variant |
Spastic paraplegia [RCV000866063] |
Chr13:23341223 [GRCh38]
Chr13:23915362 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.396A>G (p.Leu132=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001272280]|Spastic paraplegia [RCV000866363] |
Chr13:23365227 [GRCh38]
Chr13:23939366 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10470T>C (p.Tyr3490=) |
single nucleotide variant |
SACS-related condition [RCV003895287]|Spastic paraplegia [RCV001474980] |
Chr13:23333406 [GRCh38]
Chr13:23907545 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1464G>A (p.Pro488=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278833]|Spastic paraplegia [RCV000866167] |
Chr13:23355148 [GRCh38]
Chr13:23929287 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3147A>T (p.Ser1049=) |
single nucleotide variant |
Spastic paraplegia [RCV001487530] |
Chr13:23340729 [GRCh38]
Chr13:23914868 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13506A>G (p.Pro4502=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001272177]|Spastic paraplegia [RCV000928492] |
Chr13:23330370 [GRCh38]
Chr13:23904509 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1374A>G (p.Thr458=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277271]|Spastic paraplegia [RCV000866381]|not specified [RCV001288705] |
Chr13:23355238 [GRCh38]
Chr13:23929377 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.2862C>T (p.Ala954=) |
single nucleotide variant |
Spastic paraplegia [RCV000867532] |
Chr13:23341014 [GRCh38]
Chr13:23915153 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7641A>G (p.Lys2547=) |
single nucleotide variant |
Spastic paraplegia [RCV000864447]|not specified [RCV001664497] |
Chr13:23336235 [GRCh38]
Chr13:23910374 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.27C>G (p.Val9=) |
single nucleotide variant |
Spastic paraplegia [RCV001471862] |
Chr13:23375263 [GRCh38]
Chr13:23949402 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3417C>T (p.His1139=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113627]|Spastic paraplegia [RCV001396576] |
Chr13:23340459 [GRCh38]
Chr13:23914598 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.11766A>G (p.Leu3922=) |
single nucleotide variant |
Spastic paraplegia [RCV001395877] |
Chr13:23332110 [GRCh38]
Chr13:23906249 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11280G>A (p.Thr3760=) |
single nucleotide variant |
Spastic paraplegia [RCV000866551]|not specified [RCV001664501] |
Chr13:23332596 [GRCh38]
Chr13:23906735 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11664A>G (p.Leu3888=) |
single nucleotide variant |
Spastic paraplegia [RCV000901708] |
Chr13:23332212 [GRCh38]
Chr13:23906351 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113355]|Hereditary spastic paraplegia [RCV001847073]|Spastic paraplegia [RCV000867623]|not specified [RCV001288702] |
Chr13:23331047 [GRCh38]
Chr13:23905186 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.159C>G (p.Arg53=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001272281]|Spastic paraplegia [RCV001470967] |
Chr13:23375131 [GRCh38]
Chr13:23949270 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8646T>C (p.His2882=) |
single nucleotide variant |
Spastic paraplegia [RCV000869648] |
Chr13:23335230 [GRCh38]
Chr13:23909369 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.861C>T (p.Tyr287=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112464]|Spastic paraplegia [RCV001081486]|not provided [RCV000869346] |
Chr13:23355751 [GRCh38]
Chr13:23929890 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.327A>G (p.Glu109=) |
single nucleotide variant |
Spastic paraplegia [RCV000941921] |
Chr13:23368420 [GRCh38]
Chr13:23942559 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3096G>A (p.Glu1032=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830910]|Spastic paraplegia [RCV000869782] |
Chr13:23340780 [GRCh38]
Chr13:23914919 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1311G>A (p.Thr437=) |
single nucleotide variant |
Spastic paraplegia [RCV000866839] |
Chr13:23355301 [GRCh38]
Chr13:23929440 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273199]|Spastic paraplegia [RCV001474532] |
Chr13:23335077 [GRCh38]
Chr13:23909216 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11715T>C (p.Leu3905=) |
single nucleotide variant |
Spastic paraplegia [RCV001487195] |
Chr13:23332161 [GRCh38]
Chr13:23906300 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1884C>T (p.Pro628=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277268]|SACS-related condition [RCV003918386]|Spastic paraplegia [RCV000866995]|not specified [RCV001288708] |
Chr13:23354728 [GRCh38]
Chr13:23928867 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|uncertain significance |
| NM_014363.6(SACS):c.8922A>G (p.Leu2974=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273198]|Spastic paraplegia [RCV000867085] |
Chr13:23334954 [GRCh38]
Chr13:23909093 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.1989G>T (p.Leu663=) |
single nucleotide variant |
SACS-related condition [RCV003965715]|Spastic paraplegia [RCV000867208] |
Chr13:23354623 [GRCh38]
Chr13:23928762 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1152T>G (p.Thr384=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278835]|Spastic paraplegia [RCV000867239] |
Chr13:23355460 [GRCh38]
Chr13:23929599 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.8337A>G (p.Gln2779=) |
single nucleotide variant |
Spastic paraplegia [RCV000970618] |
Chr13:23335539 [GRCh38]
Chr13:23909678 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8058G>C (p.Leu2686=) |
single nucleotide variant |
Spastic paraplegia [RCV000982631] |
Chr13:23335818 [GRCh38]
Chr13:23909957 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000757941]|not specified [RCV003317355] |
Chr13:23332775 [GRCh38]
Chr13:23906914 [GRCh37]
Chr13:13q12.12 |
affects|uncertain significance |
| NM_014363.6(SACS):c.5613T>C (p.Phe1871=) |
single nucleotide variant |
Spastic paraplegia [RCV000945835] |
Chr13:23338263 [GRCh38]
Chr13:23912402 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2494T>C (p.Ser832Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277263]|Spastic paraplegia [RCV000863911] |
Chr13:23341382 [GRCh38]
Chr13:23915521 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8880A>G (p.Leu2960=) |
single nucleotide variant |
Spastic paraplegia [RCV001424693] |
Chr13:23334996 [GRCh38]
Chr13:23909135 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2460C>G (p.Leu820=) |
single nucleotide variant |
Spastic paraplegia [RCV001456483] |
Chr13:23341416 [GRCh38]
Chr13:23915555 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10620C>T (p.Phe3540=) |
single nucleotide variant |
Spastic paraplegia [RCV000876384] |
Chr13:23333256 [GRCh38]
Chr13:23907395 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.151C>T (p.Leu51=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113815]|Spastic paraplegia [RCV000865792] |
Chr13:23375139 [GRCh38]
Chr13:23949278 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4599A>C (p.Ser1533=) |
single nucleotide variant |
Spastic paraplegia [RCV000867934] |
Chr13:23339277 [GRCh38]
Chr13:23913416 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4878C>T (p.Gly1626=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278828]|SACS-related condition [RCV003930377]|Spastic paraplegia [RCV000868844] |
Chr13:23338998 [GRCh38]
Chr13:23913137 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2877T>C (p.Asp959=) |
single nucleotide variant |
Spastic paraplegia [RCV000941905] |
Chr13:23340999 [GRCh38]
Chr13:23915138 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4145A>G (p.His1382Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830926]|Spastic paraplegia [RCV000876720] |
Chr13:23339731 [GRCh38]
Chr13:23913870 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3306T>C (p.Asp1102=) |
single nucleotide variant |
Spastic paraplegia [RCV000983531] |
Chr13:23340570 [GRCh38]
Chr13:23914709 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4098G>C (p.Leu1366=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835990]|Spastic paraplegia [RCV000865968] |
Chr13:23339778 [GRCh38]
Chr13:23913917 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3915T>C (p.His1305=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112286]|Spastic paraplegia [RCV001446915]|not provided [RCV000865691] |
Chr13:23339961 [GRCh38]
Chr13:23914100 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.13536T>C (p.Tyr4512=) |
single nucleotide variant |
Spastic paraplegia [RCV001403178] |
Chr13:23330340 [GRCh38]
Chr13:23904479 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.540A>G (p.Lys180=) |
single nucleotide variant |
Spastic paraplegia [RCV001432213] |
Chr13:23358399 [GRCh38]
Chr13:23932538 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7203T>C (p.Ala2401=) |
single nucleotide variant |
Spastic paraplegia [RCV001429582] |
Chr13:23336673 [GRCh38]
Chr13:23910812 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11718G>A (p.Ala3906=) |
single nucleotide variant |
Spastic paraplegia [RCV001418280] |
Chr13:23332158 [GRCh38]
Chr13:23906297 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2031C>T (p.Val677=) |
single nucleotide variant |
Spastic paraplegia [RCV001505982] |
Chr13:23354581 [GRCh38]
Chr13:23928720 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5340A>T (p.Pro1780=) |
single nucleotide variant |
Spastic paraplegia [RCV000868090] |
Chr13:23338536 [GRCh38]
Chr13:23912675 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.117C>T (p.Phe39=) |
single nucleotide variant |
Spastic paraplegia [RCV001506557] |
Chr13:23375173 [GRCh38]
Chr13:23949312 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12831T>G (p.Pro4277=) |
single nucleotide variant |
Spastic paraplegia [RCV001454232] |
Chr13:23331045 [GRCh38]
Chr13:23905184 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8424T>C (p.Thr2808=) |
single nucleotide variant |
Spastic paraplegia [RCV001487004] |
Chr13:23335452 [GRCh38]
Chr13:23909591 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13119C>T (p.Asp4373=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835993]|Spastic paraplegia [RCV000869013] |
Chr13:23330757 [GRCh38]
Chr13:23904896 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001272178]|Spastic paraplegia [RCV000906846] |
Chr13:23330592 [GRCh38]
Chr13:23904731 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3288C>T (p.Ala1096=) |
single nucleotide variant |
Spastic paraplegia [RCV002066409] |
Chr13:23340588 [GRCh38]
Chr13:23914727 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001833671]|Spastic paraplegia [RCV001071021] |
Chr13:23334748 [GRCh38]
Chr13:23908887 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277477]|Spastic paraplegia [RCV001037235] |
Chr13:23331801 [GRCh38]
Chr13:23905940 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.3429A>G (p.Gln1143=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827224]|Spastic paraplegia [RCV001037458] |
Chr13:23340447 [GRCh38]
Chr13:23914586 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827317]|Spastic paraplegia [RCV001050310] |
Chr13:23332612 [GRCh38]
Chr13:23906751 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp) |
single nucleotide variant |
Spastic paraplegia [RCV001071801] |
Chr13:23331803 [GRCh38]
Chr13:23905942 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) |
duplication |
Spastic paraplegia [RCV003750860]|not provided [RCV001287920] |
Chr13:23335636..23335637 [GRCh38]
Chr13:23909775..23909776 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4259_4263del (p.Ile1420fs) |
deletion |
Spastic paraplegia [RCV001038367] |
Chr13:23339613..23339617 [GRCh38]
Chr13:23913752..23913756 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.439G>C (p.Asp147His) |
single nucleotide variant |
Inborn genetic diseases [RCV002552053]|Spastic paraplegia [RCV001034287] |
Chr13:23365184 [GRCh38]
Chr13:23939323 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn) |
single nucleotide variant |
not provided [RCV001287909] |
Chr13:23337146 [GRCh38]
Chr13:23911285 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830092]|Spastic paraplegia [RCV002537965]|not provided [RCV001287910] |
Chr13:23337098 [GRCh38]
Chr13:23911237 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp) |
single nucleotide variant |
not provided [RCV001287917] |
Chr13:23336232 [GRCh38]
Chr13:23910371 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830094]|not provided [RCV001287919] |
Chr13:23335643 [GRCh38]
Chr13:23909782 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2186-91del |
deletion |
not provided [RCV001608863] |
Chr13:23341781 [GRCh38]
Chr13:23915920 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs) |
deletion |
Spastic paraplegia [RCV001068096] |
Chr13:23332709..23332710 [GRCh38]
Chr13:23906848..23906849 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp) |
single nucleotide variant |
Spastic paraplegia [RCV001040880] |
Chr13:23336082 [GRCh38]
Chr13:23910221 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276946]|Spastic paraplegia [RCV001045544] |
Chr13:23338816 [GRCh38]
Chr13:23912955 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.326A>G (p.Glu109Gly) |
single nucleotide variant |
Spastic paraplegia [RCV001064305] |
Chr13:23368421 [GRCh38]
Chr13:23942560 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NC_000013.11:g.(?_23353775)_(23358491_?)del |
deletion |
Spastic paraplegia [RCV001031362] |
Chr13:23927914..23932630 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001261525]|Spastic paraplegia [RCV001046270] |
Chr13:23355411 [GRCh38]
Chr13:23929550 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115152]|Spastic paraplegia [RCV001064907] |
Chr13:23338091 [GRCh38]
Chr13:23912230 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.382_383del (p.Glu128fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001785775]|Spastic paraplegia [RCV001062044]|not provided [RCV001289169] |
Chr13:23365240..23365241 [GRCh38]
Chr13:23939379..23939380 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12606A>C (p.Thr4202=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825750]|Spastic paraplegia [RCV000869829] |
Chr13:23331270 [GRCh38]
Chr13:23905409 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.175T>A (p.Ser59Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784587]|Inborn genetic diseases [RCV003160303]|SACS-related condition [RCV003953442]|Spastic paraplegia [RCV001043293]|not provided [RCV001759750] |
Chr13:23371162 [GRCh38]
Chr13:23945301 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832412]|Inborn genetic diseases [RCV003160304]|SACS-related condition [RCV003953443]|Spastic paraplegia [RCV001043294]|not provided [RCV002280151] |
Chr13:23338831 [GRCh38]
Chr13:23912970 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9249del (p.Leu3083_Ile3084insTer) |
deletion |
Spastic paraplegia [RCV001043420] |
Chr13:23334627 [GRCh38]
Chr13:23908766 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6623del (p.Ala2208fs) |
deletion |
Spastic paraplegia [RCV000795244] |
Chr13:23337253 [GRCh38]
Chr13:23911392 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000781830]|Spastic paraplegia [RCV003750821] |
Chr13:23334206 [GRCh38]
Chr13:23908345 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8154A>G (p.Ala2718=) |
single nucleotide variant |
Spastic paraplegia [RCV000865835] |
Chr13:23335722 [GRCh38]
Chr13:23909861 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10221A>G (p.Leu3407=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830893]|Spastic paraplegia [RCV000867076]|not specified [RCV001288368] |
Chr13:23333655 [GRCh38]
Chr13:23907794 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.10482A>G (p.Leu3494=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273194]|Spastic paraplegia [RCV000868694]|not specified [RCV001664505] |
Chr13:23333394 [GRCh38]
Chr13:23907533 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830871]|Hereditary spastic paraplegia [RCV001847046]|Spastic paraplegia [RCV000863931] |
Chr13:23334577 [GRCh38]
Chr13:23908716 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.1593C>T (p.Ile531=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109712]|Hereditary spastic paraplegia [RCV001849134]|SACS-related condition [RCV003938209]|Spastic paraplegia [RCV000861032]|not provided [RCV001552523] |
Chr13:23355019 [GRCh38]
Chr13:23929158 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.5835A>G (p.Val1945=) |
single nucleotide variant |
Spastic paraplegia [RCV002065692] |
Chr13:23338041 [GRCh38]
Chr13:23912180 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7833G>A (p.Thr2611=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273202]|Spastic paraplegia [RCV000873051]|not specified [RCV001664513] |
Chr13:23336043 [GRCh38]
Chr13:23910182 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9912C>T (p.Leu3304=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578937]|Spastic paraplegia [RCV001410507] |
Chr13:23333964 [GRCh38]
Chr13:23908103 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11343T>C (p.Ser3781=) |
single nucleotide variant |
Spastic paraplegia [RCV001470097] |
Chr13:23332533 [GRCh38]
Chr13:23906672 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7812T>C (p.Ile2604=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273203]|Spastic paraplegia [RCV000867494] |
Chr13:23336064 [GRCh38]
Chr13:23910203 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3729A>G (p.Glu1243=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277260]|Spastic paraplegia [RCV000873926] |
Chr13:23340147 [GRCh38]
Chr13:23914286 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10659T>C (p.Pro3553=) |
single nucleotide variant |
Spastic paraplegia [RCV001394394] |
Chr13:23333217 [GRCh38]
Chr13:23907356 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1905G>A (p.Leu635=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847108]|Spastic paraplegia [RCV000898794] |
Chr13:23354707 [GRCh38]
Chr13:23928846 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5064G>A (p.Gln1688=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275194]|Spastic paraplegia [RCV000868684] |
Chr13:23338812 [GRCh38]
Chr13:23912951 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5169A>G (p.Ala1723=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109529]|Spastic paraplegia [RCV000874244] |
Chr13:23338707 [GRCh38]
Chr13:23912846 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.1497T>C (p.Asn499=) |
single nucleotide variant |
Spastic paraplegia [RCV001456925] |
Chr13:23355115 [GRCh38]
Chr13:23929254 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5886A>G (p.Gly1962=) |
single nucleotide variant |
Spastic paraplegia [RCV000942133] |
Chr13:23337990 [GRCh38]
Chr13:23912129 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.399T>C (p.Tyr133=) |
single nucleotide variant |
Spastic paraplegia [RCV001461814] |
Chr13:23365224 [GRCh38]
Chr13:23939363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7476A>G (p.Val2492=) |
single nucleotide variant |
Spastic paraplegia [RCV000918551] |
Chr13:23336400 [GRCh38]
Chr13:23910539 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3402T>C (p.Val1134=) |
single nucleotide variant |
Spastic paraplegia [RCV000941690] |
Chr13:23340474 [GRCh38]
Chr13:23914613 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10909A>G (p.Met3637Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113445]|SACS-related condition [RCV003955594]|Spastic paraplegia [RCV000863055] |
Chr13:23332967 [GRCh38]
Chr13:23907106 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115156]|Hereditary spastic paraplegia [RCV001849165]|SACS-related condition [RCV003955596]|Spastic paraplegia [RCV001080973]|not provided [RCV000863078] |
Chr13:23338415 [GRCh38]
Chr13:23912554 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10731A>C (p.Thr3577=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827103]|Spastic paraplegia [RCV001395880] |
Chr13:23333145 [GRCh38]
Chr13:23907284 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6447T>C (p.Val2149=) |
single nucleotide variant |
Spastic paraplegia [RCV000866314] |
Chr13:23337429 [GRCh38]
Chr13:23911568 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10290C>T (p.Tyr3430=) |
single nucleotide variant |
Spastic paraplegia [RCV000870207] |
Chr13:23333586 [GRCh38]
Chr13:23907725 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1752A>G (p.Leu584=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277269]|Hereditary spastic paraplegia [RCV001847087]|Spastic paraplegia [RCV000871517] |
Chr13:23354860 [GRCh38]
Chr13:23928999 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2403A>G (p.Pro801=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277265]|Spastic paraplegia [RCV000898797] |
Chr13:23341473 [GRCh38]
Chr13:23915612 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9333T>C (p.Asn3111=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825723]|Spastic paraplegia [RCV001087562]|not provided [RCV000865279] |
Chr13:23334543 [GRCh38]
Chr13:23908682 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109206]|SACS-related condition [RCV003918335]|Spastic paraplegia [RCV001086035]|not provided [RCV000862183] |
Chr13:23333585 [GRCh38]
Chr13:23907724 [GRCh37]
Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10980C>T (p.Pro3660=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825710]|Hereditary spastic paraplegia [RCV001849148]|Spastic paraplegia [RCV000861725] |
Chr13:23332896 [GRCh38]
Chr13:23907035 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12525T>G (p.Val4175=) |
single nucleotide variant |
Spastic paraplegia [RCV000874153] |
Chr13:23331351 [GRCh38]
Chr13:23905490 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8538T>A (p.Thr2846=) |
single nucleotide variant |
Spastic paraplegia [RCV001462721] |
Chr13:23335338 [GRCh38]
Chr13:23909477 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003141874]|Hereditary spastic paraplegia [RCV001849160]|Spastic paraplegia [RCV000862365] |
Chr13:23336570 [GRCh38]
Chr13:23910709 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1434A>G (p.Lys478=) |
single nucleotide variant |
Spastic paraplegia [RCV001453451] |
Chr13:23355178 [GRCh38]
Chr13:23929317 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277267]|Spastic paraplegia [RCV001088293]|not provided [RCV000862304] |
Chr13:23354699 [GRCh38]
Chr13:23928838 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.924C>G (p.Leu308=) |
single nucleotide variant |
Spastic paraplegia [RCV000872346] |
Chr13:23355688 [GRCh38]
Chr13:23929827 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6348C>T (p.Pro2116=) |
single nucleotide variant |
Spastic paraplegia [RCV001468384] |
Chr13:23337528 [GRCh38]
Chr13:23911667 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10008A>G (p.Lys3336=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111538]|Spastic paraplegia [RCV000862514]|not provided [RCV001593072]|not specified [RCV001664493] |
Chr13:23333868 [GRCh38]
Chr13:23908007 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.288T>C (p.Leu96=) |
single nucleotide variant |
Spastic paraplegia [RCV000983418] |
Chr13:23368459 [GRCh38]
Chr13:23942598 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5529G>C (p.Leu1843=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276942]|Spastic paraplegia [RCV000862540] |
Chr13:23338347 [GRCh38]
Chr13:23912486 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3060A>C (p.Leu1020=) |
single nucleotide variant |
Spastic paraplegia [RCV001406547] |
Chr13:23340816 [GRCh38]
Chr13:23914955 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2733C>T (p.Thr911=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278831]|Spastic paraplegia [RCV000869149] |
Chr13:23341143 [GRCh38]
Chr13:23915282 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13272C>T (p.Ala4424=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001272179]|Spastic paraplegia [RCV000862462] |
Chr13:23330604 [GRCh38]
Chr13:23904743 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.7042C>T (p.Leu2348=) |
single nucleotide variant |
Spastic paraplegia [RCV000872683] |
Chr13:23336834 [GRCh38]
Chr13:23910973 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9972A>G (p.Leu3324=) |
single nucleotide variant |
Spastic paraplegia [RCV000867970] |
Chr13:23333904 [GRCh38]
Chr13:23908043 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5274C>T (p.Cys1758=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278826]|Spastic paraplegia [RCV000867989] |
Chr13:23338602 [GRCh38]
Chr13:23912741 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.11277G>T (p.Thr3759=) |
single nucleotide variant |
not provided [RCV000919064] |
Chr13:23332599 [GRCh38]
Chr13:23906738 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7101G>A (p.Ala2367=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109418]|Spastic paraplegia [RCV000868084] |
Chr13:23336775 [GRCh38]
Chr13:23910914 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.9465T>C (p.Leu3155=) |
single nucleotide variant |
Spastic paraplegia [RCV001414062] |
Chr13:23334411 [GRCh38]
Chr13:23908550 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4971T>C (p.Ser1657=) |
single nucleotide variant |
Spastic paraplegia [RCV001502842] |
Chr13:23338905 [GRCh38]
Chr13:23913044 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275198]|Spastic paraplegia [RCV000862947] |
Chr13:23340108 [GRCh38]
Chr13:23914247 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.21-5C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847120]|Spastic paraplegia [RCV000981416] |
Chr13:23375274 [GRCh38]
Chr13:23949413 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2289A>G (p.Gln763=) |
single nucleotide variant |
Spastic paraplegia [RCV001081034]|not provided [RCV000869489] |
Chr13:23341587 [GRCh38]
Chr13:23915726 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.7464A>G (p.Ile2488Met) |
single nucleotide variant |
Spastic paraplegia [RCV000820811] |
Chr13:23336412 [GRCh38]
Chr13:23910551 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274921]|Spastic paraplegia [RCV000802657]|not provided [RCV001662833] |
Chr13:23333671 [GRCh38]
Chr13:23907810 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3918T>C (p.Asn1306=) |
single nucleotide variant |
Spastic paraplegia [RCV002065883] |
Chr13:23339958 [GRCh38]
Chr13:23914097 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1332A>G (p.Ala444=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001826979]|Spastic paraplegia [RCV002066167] |
Chr13:23355280 [GRCh38]
Chr13:23929419 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1707G>A (p.Trp569Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000813900] |
Chr13:23354905 [GRCh38]
Chr13:23929044 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830692]|Spastic paraplegia [RCV000793079] |
Chr13:23340995 [GRCh38]
Chr13:23915134 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.432G>T (p.Trp144Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277274]|Spastic paraplegia [RCV000804533]|not provided [RCV000995043] |
Chr13:23365191 [GRCh38]
Chr13:23939330 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276943]|Hereditary spastic paraplegia [RCV001849125]|Spastic paraplegia [RCV000821085] |
Chr13:23338508 [GRCh38]
Chr13:23912647 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.517C>T (p.Gln173Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000821092] |
Chr13:23358422 [GRCh38]
Chr13:23932561 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln) |
single nucleotide variant |
Spastic paraplegia [RCV000797994] |
Chr13:23333549 [GRCh38]
Chr13:23907688 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273193]|not provided [RCV000992773] |
Chr13:23332661 [GRCh38]
Chr13:23906800 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6435G>C (p.Leu2145Phe) |
single nucleotide variant |
not provided [RCV000992794] |
Chr13:23337441 [GRCh38]
Chr13:23911580 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NC_000013.11:g.(?_23093196)_(23368497_?)del |
deletion |
Spastic paraplegia [RCV000798822] |
Chr13:23093196..23368497 [GRCh38]
Chr13:23667335..23942636 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784452]|Spastic paraplegia [RCV000821539]|not provided [RCV000992770] |
Chr13:23355551 [GRCh38]
Chr13:23929690 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784524]|not provided [RCV000992800] |
Chr13:23334987 [GRCh38]
Chr13:23909126 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273197]|Spastic paraplegia [RCV002549812]|not provided [RCV000992802] |
Chr13:23334199 [GRCh38]
Chr13:23908338 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu) |
deletion |
Spastic paraplegia [RCV000824461] |
Chr13:23335474..23335488 [GRCh38]
Chr13:23909613..23909627 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1940del (p.Lys647fs) |
deletion |
Spastic paraplegia [RCV000824652] |
Chr13:23354672 [GRCh38]
Chr13:23928811 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2929C>T (p.Leu977=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277262]|SACS-related condition [RCV003908132]|Spastic paraplegia [RCV001083492]|not provided [RCV000840234] |
Chr13:23340947 [GRCh38]
Chr13:23915086 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825662]|Spastic paraplegia [RCV000821880] |
Chr13:23330992 [GRCh38]
Chr13:23905131 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274926]|Spastic paraplegia [RCV000795635] |
Chr13:23334928 [GRCh38]
Chr13:23909067 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2581C>T (p.His861Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830785]|Inborn genetic diseases [RCV003166340]|Spastic paraplegia [RCV000814972] |
Chr13:23341295 [GRCh38]
Chr13:23915434 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830738]|Spastic paraplegia [RCV000803737] |
Chr13:23335372 [GRCh38]
Chr13:23909511 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1441G>T (p.Glu481Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000802055] |
Chr13:23355171 [GRCh38]
Chr13:23929310 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830748]|Spastic paraplegia [RCV000805575] |
Chr13:23337901 [GRCh38]
Chr13:23912040 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000988964]|Spastic paraplegia [RCV001858698] |
Chr13:23331935 [GRCh38]
Chr13:23906074 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.562G>A (p.Gly188Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000988966] |
Chr13:23358377 [GRCh38]
Chr13:23932516 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.187A>T (p.Lys63Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000808384] |
Chr13:23371150 [GRCh38]
Chr13:23945289 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275192]|Spastic paraplegia [RCV000805719]|not provided [RCV001287906] |
Chr13:23337527 [GRCh38]
Chr13:23911666 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.137T>G (p.Val46Gly) |
single nucleotide variant |
Spastic paraplegia [RCV000808531] |
Chr13:23375153 [GRCh38]
Chr13:23949292 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830740]|Inborn genetic diseases [RCV004028161]|Spastic paraplegia [RCV000804057] |
Chr13:23337467 [GRCh38]
Chr13:23911606 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6871G>C (p.Asp2291His) |
single nucleotide variant |
Spastic paraplegia [RCV000805789] |
Chr13:23337005 [GRCh38]
Chr13:23911144 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2472G>A (p.Ser824=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825751]|Spastic paraplegia [RCV000870183] |
Chr13:23341404 [GRCh38]
Chr13:23915543 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825639]|Spastic paraplegia [RCV000815522] |
Chr13:23332138 [GRCh38]
Chr13:23906277 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2509C>T (p.Pro837Ser) |
single nucleotide variant |
SACS-related condition [RCV003955520]|Spastic paraplegia [RCV000809636] |
Chr13:23341367 [GRCh38]
Chr13:23915506 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827137]|Spastic paraplegia [RCV003750836]|not provided [RCV000992776] |
Chr13:23332567 [GRCh38]
Chr13:23906706 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832307]|Spastic paraplegia [RCV002549810]|not provided [RCV000992785] |
Chr13:23341190 [GRCh38]
Chr13:23915329 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003467552]|not provided [RCV000992786] |
Chr13:23340989..23340990 [GRCh38]
Chr13:23915128..23915129 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111735]|Spastic paraplegia [RCV001245042]|not provided [RCV000992795] |
Chr13:23337358 [GRCh38]
Chr13:23911497 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472362]|Spastic paraplegia [RCV000800465] |
Chr13:23338168..23338169 [GRCh38]
Chr13:23912307..23912308 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn) |
single nucleotide variant |
Spastic paraplegia [RCV000800565] |
Chr13:23336290 [GRCh38]
Chr13:23910429 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275190]|Spastic paraplegia [RCV000791527] |
Chr13:23337019 [GRCh38]
Chr13:23911158 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2702A>T (p.Asp901Val) |
single nucleotide variant |
Spastic paraplegia [RCV000797739] |
Chr13:23341174 [GRCh38]
Chr13:23915313 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825572]|Spastic paraplegia [RCV000798545] |
Chr13:23331817 [GRCh38]
Chr13:23905956 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23506404-24925728)x1 |
copy number loss |
not provided [RCV000846318] |
Chr13:23506404..24925728 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825638]|Spastic paraplegia [RCV000815122] |
Chr13:23332585 [GRCh38]
Chr13:23906724 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.141G>A (p.Ser47=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830733]|Spastic paraplegia [RCV000802602]|not provided [RCV003396402] |
Chr13:23375149 [GRCh38]
Chr13:23949288 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1004C>A (p.Ser335Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000802665] |
Chr13:23355608 [GRCh38]
Chr13:23929747 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2938_2939del (p.Met980fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV000850594] |
Chr13:23340937..23340938 [GRCh38]
Chr13:23915076..23915077 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.434C>G (p.Ser145Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001785730]|SACS-related condition [RCV003396439]|Spastic paraplegia [RCV000819151]|not provided [RCV000992789] |
Chr13:23365189 [GRCh38]
Chr13:23939328 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784447]|Spastic paraplegia [RCV000819244]|not provided [RCV001508706] |
Chr13:23354705 [GRCh38]
Chr13:23928844 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV000850595] |
Chr13:23332238..23332239 [GRCh38]
Chr13:23906377..23906378 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.*711A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114622] |
Chr13:23329425 [GRCh38]
Chr13:23903564 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114842] |
Chr13:23333342 [GRCh38]
Chr13:23907481 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10485G>A (p.Glu3495=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114845]|Spastic paraplegia [RCV001472210] |
Chr13:23333391 [GRCh38]
Chr13:23907530 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.9233del (p.Asn3078fs) |
deletion |
Spastic paraplegia [RCV000819911] |
Chr13:23334643 [GRCh38]
Chr13:23908782 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| GRCh37/hg19 13q12.12(chr13:23506404-24926597)x1 |
copy number loss |
not provided [RCV000846686] |
Chr13:23506404..24926597 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12981_12984del (p.Ile4328fs) |
deletion |
not provided [RCV001090242] |
Chr13:23330892..23330895 [GRCh38]
Chr13:23905031..23905034 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn) |
single nucleotide variant |
Spastic paraplegia [RCV000794321] |
Chr13:23339211 [GRCh38]
Chr13:23913350 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*916T>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114618] |
Chr13:23329220 [GRCh38]
Chr13:23903359 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*821A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114619]|Hereditary spastic paraplegia [RCV001847160]|not provided [RCV003326541] |
Chr13:23329315 [GRCh38]
Chr13:23903454 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114728]|Spastic paraplegia [RCV003117762] |
Chr13:23331064 [GRCh38]
Chr13:23905203 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12765G>A (p.Arg4255=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114729]|Spastic paraplegia [RCV001416509] |
Chr13:23331111 [GRCh38]
Chr13:23905250 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.12693T>C (p.Tyr4231=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114731]|Spastic paraplegia [RCV003750853] |
Chr13:23331183 [GRCh38]
Chr13:23905322 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114946] |
Chr13:23335018 [GRCh38]
Chr13:23909157 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV000849129] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.2775_2776del (p.Phe927fs) |
deletion |
Spastic paraplegia [RCV000850334] |
Chr13:23341100..23341101 [GRCh38]
Chr13:23915239..23915240 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs) |
indel |
Spastic paraplegia [RCV000792819] |
Chr13:23331946..23331969 [GRCh38]
Chr13:23906085..23906108 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.559G>T (p.Val187Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825636]|Spastic paraplegia [RCV000814678] |
Chr13:23358380 [GRCh38]
Chr13:23932519 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7632A>G (p.Glu2544=) |
single nucleotide variant |
Spastic paraplegia [RCV000864188] |
Chr13:23336244 [GRCh38]
Chr13:23910383 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6387G>C (p.Gly2129=) |
single nucleotide variant |
Spastic paraplegia [RCV000876543] |
Chr13:23337489 [GRCh38]
Chr13:23911628 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000821707] |
Chr13:23333029 [GRCh38]
Chr13:23907168 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3693T>C (p.Val1231=) |
single nucleotide variant |
Spastic paraplegia [RCV002065906] |
Chr13:23340183 [GRCh38]
Chr13:23914322 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7200T>C (p.Phe2400=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115056]|Hereditary spastic paraplegia [RCV001849169]|Spastic paraplegia [RCV000863351] |
Chr13:23336676 [GRCh38]
Chr13:23910815 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) |
single nucleotide variant |
Spastic paraplegia [RCV000794256]|not provided [RCV003482308] |
Chr13:23341163 [GRCh38]
Chr13:23915302 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8931A>G (p.Leu2977=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278820]|Spastic paraplegia [RCV000871159] |
Chr13:23334945 [GRCh38]
Chr13:23909084 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5832A>G (p.Ala1944=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784428]|Spastic paraplegia [RCV000805989]|not provided [RCV001289181] |
Chr13:23338044 [GRCh38]
Chr13:23912183 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276944]|Spastic paraplegia [RCV000822535] |
Chr13:23338520 [GRCh38]
Chr13:23912659 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6006A>G (p.Arg2002=) |
single nucleotide variant |
Spastic paraplegia [RCV000873652] |
Chr13:23337870 [GRCh38]
Chr13:23912009 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12232C>A (p.Arg4078=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001272180]|Spastic paraplegia [RCV000861383] |
Chr13:23331644 [GRCh38]
Chr13:23905783 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277270]|Hereditary spastic paraplegia [RCV001849142]|Spastic paraplegia [RCV000861435]|not provided [RCV001288706] |
Chr13:23355234 [GRCh38]
Chr13:23929373 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5502G>C (p.Leu1834=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115154]|Hereditary spastic paraplegia [RCV001849145]|Spastic paraplegia [RCV000861553]|not specified [RCV001664489] |
Chr13:23338374 [GRCh38]
Chr13:23912513 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.3840T>A (p.Thr1280=) |
single nucleotide variant |
Spastic paraplegia [RCV000794916] |
Chr13:23340036 [GRCh38]
Chr13:23914175 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12102C>G (p.Ala4034=) |
single nucleotide variant |
Spastic paraplegia [RCV000940512] |
Chr13:23331774 [GRCh38]
Chr13:23905913 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.51C>T (p.Cys17=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001272282]|Spastic paraplegia [RCV000863921] |
Chr13:23375239 [GRCh38]
Chr13:23949378 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NC_000013.11:g.(?_23093196)_(23411249_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV001383147]|Spastic paraplegia [RCV000807921] |
Chr13:23093196..23411249 [GRCh38]
Chr13:23667335..23985388 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11484A>G (p.Leu3828=) |
single nucleotide variant |
Spastic paraplegia [RCV000871661] |
Chr13:23332392 [GRCh38]
Chr13:23906531 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1794G>A (p.Gly598=) |
single nucleotide variant |
Spastic paraplegia [RCV001474709] |
Chr13:23354818 [GRCh38]
Chr13:23928957 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 |
copy number gain |
not provided [RCV000847640] |
Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13 |
pathogenic |
| NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274920]|not provided [RCV000992771] |
Chr13:23333139 [GRCh38]
Chr13:23907278 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827136]|Inborn genetic diseases [RCV002549806]|Spastic paraplegia [RCV002549807]|not provided [RCV000992775] |
Chr13:23332574 [GRCh38]
Chr13:23906713 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.1310C>T (p.Thr437Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832304]|Spastic paraplegia [RCV002550644]|not provided [RCV000992777] |
Chr13:23355302 [GRCh38]
Chr13:23929441 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832305]|Spastic paraplegia [RCV002549808]|not provided [RCV000992778] |
Chr13:23330603 [GRCh38]
Chr13:23904742 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4522A>C (p.Asn1508His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001276947]|not provided [RCV000992790] |
Chr13:23339354 [GRCh38]
Chr13:23913493 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10515A>C (p.Ser3505=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114843] |
Chr13:23333361 [GRCh38]
Chr13:23907500 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7376T>C (p.Met2459Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115055]|Spastic paraplegia [RCV002556257] |
Chr13:23336500 [GRCh38]
Chr13:23910639 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5770G>T (p.Val1924Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115153] |
Chr13:23338106 [GRCh38]
Chr13:23912245 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5466T>C (p.Thr1822=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115155]|Spastic paraplegia [RCV002556259] |
Chr13:23338410 [GRCh38]
Chr13:23912549 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827327]|Spastic paraplegia [RCV001051899] |
Chr13:23340326 [GRCh38]
Chr13:23914465 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7182A>G (p.Ser2394=) |
single nucleotide variant |
SACS-related condition [RCV003970417]|Spastic paraplegia [RCV000915105] |
Chr13:23336694 [GRCh38]
Chr13:23910833 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.12(chr13:23506404-24909793)x1 |
copy number loss |
not provided [RCV000847939] |
Chr13:23506404..24909793 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6070C>G (p.Leu2024Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112182] |
Chr13:23337806 [GRCh38]
Chr13:23911945 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12913G>T (p.Glu4305Ter) |
single nucleotide variant |
not provided [RCV000995030] |
Chr13:23330963 [GRCh38]
Chr13:23905102 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578936]|Inborn genetic diseases [RCV002549896]|Spastic paraplegia [RCV001419225]|not provided [RCV000995038] |
Chr13:23338165 [GRCh38]
Chr13:23912304 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2021G>T (p.Gly674Val) |
single nucleotide variant |
not provided [RCV000995042] |
Chr13:23354591 [GRCh38]
Chr13:23928730 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2488G>A (p.Asp830Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112373]|Spastic paraplegia [RCV002556195] |
Chr13:23341388 [GRCh38]
Chr13:23915527 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111914]|Inborn genetic diseases [RCV002556181]|Spastic paraplegia [RCV001479507] |
Chr13:23341085 [GRCh38]
Chr13:23915224 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11319_11321del (p.Arg3774del) |
deletion |
Spastic paraplegia [RCV001058283] |
Chr13:23332555..23332557 [GRCh38]
Chr13:23906694..23906696 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001328751]|Spastic paraplegia [RCV001246542] |
Chr13:23333800 [GRCh38]
Chr13:23907939 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.*1162C>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113250] |
Chr13:23328974 [GRCh38]
Chr13:23903113 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.964G>T (p.Glu322Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000991449] |
Chr13:23355648 [GRCh38]
Chr13:23929787 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113352]|Spastic paraplegia [RCV002558130] |
Chr13:23330467 [GRCh38]
Chr13:23904606 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003467581]|Spastic paraplegia [RCV001862751]|not provided [RCV001008542] |
Chr13:23333919..23333920 [GRCh38]
Chr13:23908058..23908059 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7655dup (p.Asn2552fs) |
duplication |
Spastic paraplegia [RCV001213960] |
Chr13:23336220..23336221 [GRCh38]
Chr13:23910359..23910360 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113532] |
Chr13:23334304 [GRCh38]
Chr13:23908443 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1297G>C (p.Ala433Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277272]|Spastic paraplegia [RCV001052446] |
Chr13:23355315 [GRCh38]
Chr13:23929454 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.1259T>C (p.Ile420Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112020]|Inborn genetic diseases [RCV002555083]|Spastic paraplegia [RCV002556187] |
Chr13:23355353 [GRCh38]
Chr13:23929492 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113628]|Spastic paraplegia [RCV002556214] |
Chr13:23340530 [GRCh38]
Chr13:23914669 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe) |
indel |
Spastic paraplegia [RCV001202905] |
Chr13:23341641..23341643 [GRCh38]
Chr13:23915780..23915782 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG (p.Leu1724fs) |
indel |
Spastic paraplegia [RCV001238976] |
Chr13:23338703..23338704 [GRCh38]
Chr13:23912842..23912843 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13271C>T (p.Ala4424Val) |
single nucleotide variant |
Spastic paraplegia [RCV001215967] |
Chr13:23330605 [GRCh38]
Chr13:23904744 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2926C>T (p.Arg976Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001828927]|Inborn genetic diseases [RCV002567936]|Spastic paraplegia [RCV001239667] |
Chr13:23340950 [GRCh38]
Chr13:23915089 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.10438C>T (p.His3480Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829014]|Spastic paraplegia [RCV001243104] |
Chr13:23333438 [GRCh38]
Chr13:23907577 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.13214C>T (p.Ala4405Val) |
single nucleotide variant |
Spastic paraplegia [RCV001220927] |
Chr13:23330662 [GRCh38]
Chr13:23904801 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9576_9580del (p.Leu3192fs) |
deletion |
Spastic paraplegia [RCV001227414] |
Chr13:23334296..23334300 [GRCh38]
Chr13:23908435..23908439 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001828802]|Hereditary spastic paraplegia [RCV001847199]|Spastic paraplegia [RCV001225970] |
Chr13:23339062 [GRCh38]
Chr13:23913201 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835319]|Spastic paraplegia [RCV001247995] |
Chr13:23340325 [GRCh38]
Chr13:23914464 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277266]|Spastic paraplegia [RCV002550646]|not provided [RCV000992782] |
Chr13:23353788 [GRCh38]
Chr13:23927927 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784523]|Inborn genetic diseases [RCV004030146]|Spastic paraplegia [RCV001362985]|not provided [RCV000992793] |
Chr13:23337512 [GRCh38]
Chr13:23911651 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275191]|not provided [RCV000992796] |
Chr13:23337100 [GRCh38]
Chr13:23911239 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7210T>G (p.Leu2404Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004030147]|not provided [RCV000992797] |
Chr13:23336666 [GRCh38]
Chr13:23910805 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274924]|Spastic paraplegia [RCV002549811]|not provided [RCV000992801] |
Chr13:23334517 [GRCh38]
Chr13:23908656 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780106]|Spastic paraplegia [RCV001491334]|not provided [RCV001200357] |
Chr13:23332828 [GRCh38]
Chr13:23906967 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830006]|Hereditary spastic paraplegia [RCV001847210]|Spastic paraplegia [RCV001247263] |
Chr13:23333929 [GRCh38]
Chr13:23908068 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV000850593]|Spastic paraplegia [RCV001386982] |
Chr13:23337442 [GRCh38]
Chr13:23911581 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| GRCh37/hg19 13q12.12(chr13:23506404-24928440)x1 |
copy number loss |
not provided [RCV000846619] |
Chr13:23506404..24928440 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9635C>T (p.Ser3212Phe) |
single nucleotide variant |
not provided [RCV003317999] |
Chr13:23334241 [GRCh38]
Chr13:23908380 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*777T>C |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114620] |
Chr13:23329359 [GRCh38]
Chr13:23903498 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.-502+2T>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001110577] |
Chr13:23433613 [GRCh38]
Chr13:24007752 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114844] |
Chr13:23333363 [GRCh38]
Chr13:23907502 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115054]|Hereditary spastic paraplegia [RCV001847161]|Spastic paraplegia [RCV001247856]|not provided [RCV001269831]|not specified [RCV003387965] |
Chr13:23336482 [GRCh38]
Chr13:23910621 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.*218T>C |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111339] |
Chr13:23329918 [GRCh38]
Chr13:23904057 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9903G>T (p.Leu3301=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111539]|Spastic paraplegia [RCV001477623]|not specified [RCV001664692] |
Chr13:23333973 [GRCh38]
Chr13:23908112 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111635]|Spastic paraplegia [RCV002558116] |
Chr13:23335685 [GRCh38]
Chr13:23909824 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111637]|Hereditary spastic paraplegia [RCV001847158]|Inborn genetic diseases [RCV002558117] |
Chr13:23335888 [GRCh38]
Chr13:23910027 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111638] |
Chr13:23336059 [GRCh38]
Chr13:23910198 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11100dup (p.Trp3701fs) |
duplication |
Autosomal recessive spastic ataxia [RCV001195303] |
Chr13:23332775..23332776 [GRCh38]
Chr13:23906914..23906915 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1444C>G (p.Leu482Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109713]|Spastic paraplegia [RCV002069778] |
Chr13:23355168 [GRCh38]
Chr13:23929307 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12193A>G (p.Ile4065Val) |
single nucleotide variant |
Spastic paraplegia [RCV003104939] |
Chr13:23331683 [GRCh38]
Chr13:23905822 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8942T>C (p.Leu2981Pro) |
single nucleotide variant |
not provided [RCV003234265] |
Chr13:23334934 [GRCh38]
Chr13:23909073 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6683A>G (p.Asp2228Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003106342] |
Chr13:23337193 [GRCh38]
Chr13:23911332 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8027C>G (p.Thr2676Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003250074] |
Chr13:23335849 [GRCh38]
Chr13:23909988 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2845G>C (p.Val949Leu) |
single nucleotide variant |
not provided [RCV001663553] |
Chr13:23341031 [GRCh38]
Chr13:23915170 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4114C>G (p.Pro1372Ala) |
single nucleotide variant |
not provided [RCV001663556] |
Chr13:23339762 [GRCh38]
Chr13:23913901 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5849A>C (p.Asp1950Ala) |
single nucleotide variant |
not provided [RCV001663559] |
Chr13:23338027 [GRCh38]
Chr13:23912166 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.605-121G>C |
single nucleotide variant |
not provided [RCV001545168] |
Chr13:23356128 [GRCh38]
Chr13:23930267 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.605-319A>C |
single nucleotide variant |
not provided [RCV001564880] |
Chr13:23356326 [GRCh38]
Chr13:23930465 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578933] |
Chr13:23338285 [GRCh38]
Chr13:23912424 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578944] |
Chr13:23337814 [GRCh38]
Chr13:23911953 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.21-162C>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002506698]|not provided [RCV001590778] |
Chr13:23375431 [GRCh38]
Chr13:23949570 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.605-64T>C |
single nucleotide variant |
not provided [RCV001583635] |
Chr13:23356071 [GRCh38]
Chr13:23930210 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.-501-78G>A |
single nucleotide variant |
not provided [RCV001555887] |
Chr13:23411818 [GRCh38]
Chr13:23985957 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.-501-343G>A |
single nucleotide variant |
not provided [RCV001587059] |
Chr13:23412083 [GRCh38]
Chr13:23986222 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10124G>C (p.Arg3375Thr) |
single nucleotide variant |
not provided [RCV001663541] |
Chr13:23333752 [GRCh38]
Chr13:23907891 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832843]|Inborn genetic diseases [RCV003163787]|Spastic paraplegia [RCV002539647]|not provided [RCV001663542] |
Chr13:23333621 [GRCh38]
Chr13:23907760 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1417A>G (p.Asn473Asp) |
single nucleotide variant |
Spastic ataxia [RCV001647243] |
Chr13:23355195 [GRCh38]
Chr13:23929334 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.259+32C>T |
single nucleotide variant |
not provided [RCV001676338] |
Chr13:23371046 [GRCh38]
Chr13:23945185 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.346-19del |
deletion |
Spastic paraplegia [RCV002072158]|not provided [RCV001565253] |
Chr13:23365296 [GRCh38]
Chr13:23939435 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.-303C>T |
single nucleotide variant |
not provided [RCV001568220] |
Chr13:23411542 [GRCh38]
Chr13:23985681 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1593C>G (p.Ile531Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578938] |
Chr13:23355019 [GRCh38]
Chr13:23929158 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10011C>G (p.Ile3337Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578945] |
Chr13:23333865 [GRCh38]
Chr13:23908004 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1119T>C (p.Tyr373=) |
single nucleotide variant |
Spastic paraplegia [RCV000865025] |
Chr13:23355493 [GRCh38]
Chr13:23929632 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273200]|Spastic paraplegia [RCV000865117] |
Chr13:23335394 [GRCh38]
Chr13:23909533 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4743C>T (p.Phe1581=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825737]|Spastic paraplegia [RCV000868486] |
Chr13:23339133 [GRCh38]
Chr13:23913272 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7164C>T (p.Thr2388=) |
single nucleotide variant |
Spastic paraplegia [RCV000868523] |
Chr13:23336712 [GRCh38]
Chr13:23910851 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10227A>G (p.Ser3409=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825815]|Spastic paraplegia [RCV000902674] |
Chr13:23333649 [GRCh38]
Chr13:23907788 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8958C>T (p.His2986=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114945]|Spastic paraplegia [RCV000973863]|not provided [RCV003883518] |
Chr13:23334918 [GRCh38]
Chr13:23909057 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.11232T>A (p.Pro3744=) |
single nucleotide variant |
Spastic paraplegia [RCV001429247] |
Chr13:23332644 [GRCh38]
Chr13:23906783 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3930C>A (p.Thr1310=) |
single nucleotide variant |
Spastic paraplegia [RCV000944553] |
Chr13:23339946 [GRCh38]
Chr13:23914085 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11712C>T (p.Asp3904=) |
single nucleotide variant |
Spastic paraplegia [RCV001436861] |
Chr13:23332164 [GRCh38]
Chr13:23906303 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7747T>C (p.Leu2583=) |
single nucleotide variant |
Spastic paraplegia [RCV000862309] |
Chr13:23336129 [GRCh38]
Chr13:23910268 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11221C>T (p.Leu3741=) |
single nucleotide variant |
Spastic paraplegia [RCV001452117] |
Chr13:23332655 [GRCh38]
Chr13:23906794 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7354T>C (p.Leu2452=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278823]|SACS-related condition [RCV003920376]|Spastic paraplegia [RCV000868843] |
Chr13:23336522 [GRCh38]
Chr13:23910661 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7824A>G (p.Gly2608=) |
single nucleotide variant |
Spastic paraplegia [RCV000862463] |
Chr13:23336052 [GRCh38]
Chr13:23910191 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11091C>T (p.Leu3697=) |
single nucleotide variant |
Spastic paraplegia [RCV001483662] |
Chr13:23332785 [GRCh38]
Chr13:23906924 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003141873]|Hereditary spastic paraplegia [RCV001849155]|SACS-related condition [RCV003892784]|Spastic paraplegia [RCV000862139] |
Chr13:23355586 [GRCh38]
Chr13:23929725 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3258C>T (p.Ser1086=) |
single nucleotide variant |
Spastic paraplegia [RCV001431053] |
Chr13:23340618 [GRCh38]
Chr13:23914757 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7725A>T (p.Ile2575=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112099]|SACS-related condition [RCV003918343]|Spastic paraplegia [RCV001080113]|not provided [RCV002510993]|not specified [RCV000862794] |
Chr13:23336151 [GRCh38]
Chr13:23910290 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6636A>C (p.Thr2212=) |
single nucleotide variant |
Spastic paraplegia [RCV000928079] |
Chr13:23337240 [GRCh38]
Chr13:23911379 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9939A>G (p.Pro3313=) |
single nucleotide variant |
not provided [RCV000914703] |
Chr13:23333937 [GRCh38]
Chr13:23908076 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12969G>A (p.Ser4323=) |
single nucleotide variant |
Spastic paraplegia [RCV000862939] |
Chr13:23330907 [GRCh38]
Chr13:23905046 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9822T>C (p.Thr3274=) |
single nucleotide variant |
Spastic paraplegia [RCV001443458] |
Chr13:23334054 [GRCh38]
Chr13:23908193 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12018G>A (p.Leu4006=) |
single nucleotide variant |
Spastic paraplegia [RCV000870216] |
Chr13:23331858 [GRCh38]
Chr13:23905997 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1566T>A (p.Ser522=) |
single nucleotide variant |
Spastic paraplegia [RCV000869345]|not provided [RCV003396517] |
Chr13:23355046 [GRCh38]
Chr13:23929185 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3828A>G (p.Pro1276=) |
single nucleotide variant |
SACS-related condition [RCV003938290]|Spastic paraplegia [RCV000869373]|not specified [RCV001664508] |
Chr13:23340048 [GRCh38]
Chr13:23914187 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.11967T>A (p.Val3989=) |
single nucleotide variant |
not provided [RCV000919751] |
Chr13:23331909 [GRCh38]
Chr13:23906048 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11763C>T (p.Ile3921=) |
single nucleotide variant |
Spastic paraplegia [RCV000862835] |
Chr13:23332113 [GRCh38]
Chr13:23906252 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10119A>G (p.Thr3373=) |
single nucleotide variant |
Spastic paraplegia [RCV000892970] |
Chr13:23333757 [GRCh38]
Chr13:23907896 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1980C>T (p.Tyr660=) |
single nucleotide variant |
Spastic paraplegia [RCV000867856] |
Chr13:23354632 [GRCh38]
Chr13:23928771 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11049T>C (p.Asn3683=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832214]|Hereditary spastic paraplegia [RCV001847118]|SACS-related condition [RCV003953325]|Spastic paraplegia [RCV000973335]|not specified [RCV001664583] |
Chr13:23332827 [GRCh38]
Chr13:23906966 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|uncertain significance |
| NM_014363.6(SACS):c.3741A>G (p.Gln1247=) |
single nucleotide variant |
Spastic paraplegia [RCV002066092] |
Chr13:23340135 [GRCh38]
Chr13:23914274 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5433A>G (p.Lys1811=) |
single nucleotide variant |
Spastic paraplegia [RCV001411315] |
Chr13:23338443 [GRCh38]
Chr13:23912582 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10047A>G (p.Ser3349=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001273196]|Spastic paraplegia [RCV000876569]|not provided [RCV001805926] |
Chr13:23333829 [GRCh38]
Chr13:23907968 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11532T>C (p.Thr3844=) |
single nucleotide variant |
Spastic paraplegia [RCV000917921]|not provided [RCV003396545] |
Chr13:23332344 [GRCh38]
Chr13:23906483 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1683G>A (p.Val561=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001826940]|Spastic paraplegia [RCV000929475] |
Chr13:23354929 [GRCh38]
Chr13:23929068 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4998A>G (p.Thr1666=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001275195]|Spastic paraplegia [RCV000862021] |
Chr13:23338878 [GRCh38]
Chr13:23913017 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001198520] |
Chr13:23335280 [GRCh38]
Chr13:23909419 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7147del (p.Arg2383fs) |
deletion |
Spastic paraplegia [RCV001225898] |
Chr13:23336729 [GRCh38]
Chr13:23910868 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001833823]|Spastic paraplegia [RCV001207368] |
Chr13:23330182 [GRCh38]
Chr13:23904321 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8281G>A (p.Val2761Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001829930]|Spastic paraplegia [RCV001244439] |
Chr13:23335595 [GRCh38]
Chr13:23909734 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10724A>T (p.His3575Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001244500] |
Chr13:23333152 [GRCh38]
Chr13:23907291 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.55G>A (p.Gly19Ser) |
single nucleotide variant |
Spastic paraplegia [RCV001219006] |
Chr13:23375235 [GRCh38]
Chr13:23949374 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001239185] |
Chr13:23336281 [GRCh38]
Chr13:23910420 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780180]|Inborn genetic diseases [RCV002564044]|Spastic paraplegia [RCV001242782]|not provided [RCV001732089] |
Chr13:23337973 [GRCh38]
Chr13:23912112 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11780C>T (p.Ala3927Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835147]|Spastic paraplegia [RCV001242971] |
Chr13:23332096 [GRCh38]
Chr13:23906235 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.*716T>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114621] |
Chr13:23329420 [GRCh38]
Chr13:23903559 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001828667]|Spastic paraplegia [RCV001208129] |
Chr13:23332760 [GRCh38]
Chr13:23906899 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8853T>G (p.Val2951=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114947]|Spastic paraplegia [RCV001489757] |
Chr13:23335023 [GRCh38]
Chr13:23909162 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro) |
single nucleotide variant |
Spastic paraplegia [RCV001232157] |
Chr13:23338108 [GRCh38]
Chr13:23912247 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113444] |
Chr13:23332849 [GRCh38]
Chr13:23906988 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5151del (p.Lys1717fs) |
deletion |
Spastic paraplegia [RCV001216711] |
Chr13:23338725 [GRCh38]
Chr13:23912864 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780177]|Spastic paraplegia [RCV001240147]|not provided [RCV001507817] |
Chr13:23334625 [GRCh38]
Chr13:23908764 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835177]|Inborn genetic diseases [RCV004034757]|Spastic paraplegia [RCV001243638] |
Chr13:23340433 [GRCh38]
Chr13:23914572 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.169G>C (p.Glu57Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113814] |
Chr13:23375121 [GRCh38]
Chr13:23949260 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10780A>G (p.Ile3594Val) |
single nucleotide variant |
Spastic paraplegia [RCV001248538] |
Chr13:23333096 [GRCh38]
Chr13:23907235 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn) |
single nucleotide variant |
Spastic paraplegia [RCV001227870] |
Chr13:23335638 [GRCh38]
Chr13:23909777 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001828724]|Spastic paraplegia [RCV001217357] |
Chr13:23331376 [GRCh38]
Chr13:23905515 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001836173]|Spastic paraplegia [RCV001224971] |
Chr13:23338729 [GRCh38]
Chr13:23912868 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10387T>C (p.Tyr3463His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001834064]|Spastic paraplegia [RCV001238280] |
Chr13:23333489 [GRCh38]
Chr13:23907628 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12084G>A (p.Leu4028=) |
single nucleotide variant |
Spastic paraplegia [RCV001244057] |
Chr13:23331792 [GRCh38]
Chr13:23905931 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8900G>A (p.Arg2967His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835199]|Spastic paraplegia [RCV001244187] |
Chr13:23334976 [GRCh38]
Chr13:23909115 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11982G>A (p.Ala3994=) |
single nucleotide variant |
Spastic paraplegia [RCV000935912] |
Chr13:23331894 [GRCh38]
Chr13:23906033 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002549809]|not provided [RCV000992784] |
Chr13:23341265 [GRCh38]
Chr13:23915404 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784522]|Spastic paraplegia [RCV001051001]|not provided [RCV000992792] |
Chr13:23339237 [GRCh38]
Chr13:23913376 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2175C>G (p.Ala725=) |
single nucleotide variant |
Spastic paraplegia [RCV000956209] |
Chr13:23353795 [GRCh38]
Chr13:23927934 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2148C>T (p.His716=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847111]|Spastic paraplegia [RCV001397544] |
Chr13:23353822 [GRCh38]
Chr13:23927961 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9699G>A (p.Lys3233=) |
single nucleotide variant |
Spastic paraplegia [RCV001433686] |
Chr13:23334177 [GRCh38]
Chr13:23908316 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6492A>G (p.Leu2164=) |
single nucleotide variant |
Spastic paraplegia [RCV000912517] |
Chr13:23337384 [GRCh38]
Chr13:23911523 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13110A>G (p.Gln4370=) |
single nucleotide variant |
Spastic paraplegia [RCV001398000] |
Chr13:23330766 [GRCh38]
Chr13:23904905 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578935] |
Chr13:23337136 [GRCh38]
Chr13:23911275 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7795G>C (p.Asp2599His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578941] |
Chr13:23336081 [GRCh38]
Chr13:23910220 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001832778]|Hereditary spastic paraplegia [RCV001847304]|Spastic paraplegia [RCV001866008]|not provided [RCV001568302] |
Chr13:23339116..23339120 [GRCh38]
Chr13:23913255..23913259 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.21-41G>T |
single nucleotide variant |
not provided [RCV001558724] |
Chr13:23375310 [GRCh38]
Chr13:23949449 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2094-182C>T |
single nucleotide variant |
not provided [RCV001719369] |
Chr13:23354058 [GRCh38]
Chr13:23928197 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.8495T>C (p.Val2832Ala) |
single nucleotide variant |
not provided [RCV000995032] |
Chr13:23335381 [GRCh38]
Chr13:23909520 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) |
single nucleotide variant |
not provided [RCV000995033] |
Chr13:23335936 [GRCh38]
Chr13:23910075 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111639]|Spastic paraplegia [RCV002550670]|not provided [RCV000995034] |
Chr13:23336134 [GRCh38]
Chr13:23910273 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001115057]|Hereditary spastic paraplegia [RCV001847126]|Spastic paraplegia [RCV001242408]|not provided [RCV000995035] |
Chr13:23336726 [GRCh38]
Chr13:23910865 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784527]|Spastic paraplegia [RCV001245729]|not provided [RCV000995037] |
Chr13:23338165 [GRCh38]
Chr13:23912304 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784528]|Spastic paraplegia [RCV001231870]|not provided [RCV000995039] |
Chr13:23338797 [GRCh38]
Chr13:23912936 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu) |
single nucleotide variant |
not provided [RCV000995040] |
Chr13:23339995 [GRCh38]
Chr13:23914134 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe) |
single nucleotide variant |
not provided [RCV000995041] |
Chr13:23340584 [GRCh38]
Chr13:23914723 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.-501-219G>A |
single nucleotide variant |
not provided [RCV001559814] |
Chr13:23411959 [GRCh38]
Chr13:23986098 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-213A>G |
single nucleotide variant |
not provided [RCV001560119] |
Chr13:23358694 [GRCh38]
Chr13:23932833 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.-39T>G |
single nucleotide variant |
not provided [RCV001555525] |
Chr13:23411278 [GRCh38]
Chr13:23985417 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8362G>A (p.Val2788Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002571417]|not provided [RCV002467247] |
Chr13:23335514 [GRCh38]
Chr13:23909653 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8340del (p.His2781fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003473557]|not provided [RCV001008913] |
Chr13:23335536 [GRCh38]
Chr13:23909675 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| GRCh37/hg19 13q12.12(chr13:23529865-24963501)x3 |
copy number gain |
not provided [RCV001006552] |
Chr13:23529865..24963501 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.-501-284G>A |
single nucleotide variant |
not provided [RCV001675406] |
Chr13:23412024 [GRCh38]
Chr13:23986163 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1925del (p.Gly642fs) |
deletion |
not provided [RCV001723285] |
Chr13:23354687 [GRCh38]
Chr13:23928826 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| GRCh37/hg19 13q12.12(chr13:23482111-24896608)x1 |
copy number loss |
not provided [RCV001006551] |
Chr13:23482111..24896608 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003750869]|not provided [RCV001663545] |
Chr13:23332100 [GRCh38]
Chr13:23906239 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3168del (p.Asp1057fs) |
deletion |
not provided [RCV001663554] |
Chr13:23340708 [GRCh38]
Chr13:23914847 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro) |
single nucleotide variant |
not provided [RCV001663564] |
Chr13:23333971 [GRCh38]
Chr13:23908110 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.605-99C>T |
single nucleotide variant |
not provided [RCV001598202] |
Chr13:23356106 [GRCh38]
Chr13:23930245 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.172-231A>G |
single nucleotide variant |
not provided [RCV001674048] |
Chr13:23371396 [GRCh38]
Chr13:23945535 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.171+24G>A |
single nucleotide variant |
not provided [RCV001571937] |
Chr13:23375095 [GRCh38]
Chr13:23949234 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.259+254C>T |
single nucleotide variant |
not provided [RCV001710418] |
Chr13:23370824 [GRCh38]
Chr13:23944963 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.*222T>C |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111338] |
Chr13:23329914 [GRCh38]
Chr13:23904053 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13563T>C (p.Asn4521=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111340]|Spastic paraplegia [RCV001490674] |
Chr13:23330313 [GRCh38]
Chr13:23904452 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.10096C>T (p.His3366Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111537]|Spastic paraplegia [RCV002556175] |
Chr13:23333780 [GRCh38]
Chr13:23907919 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.*625T>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001108988] |
Chr13:23329511 [GRCh38]
Chr13:23903650 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*394G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001108991] |
Chr13:23329742 [GRCh38]
Chr13:23903881 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109416]|Spastic paraplegia [RCV002556142] |
Chr13:23336729 [GRCh38]
Chr13:23910868 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.60C>T (p.Cys20=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109790]|Spastic paraplegia [RCV001462819] |
Chr13:23375230 [GRCh38]
Chr13:23949369 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111813]|Spastic paraplegia [RCV001482679]|not provided [RCV001289170] |
Chr13:23339621 [GRCh38]
Chr13:23913760 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111814] |
Chr13:23339642 [GRCh38]
Chr13:23913781 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112101]|Spastic paraplegia [RCV002556188] |
Chr13:23336275 [GRCh38]
Chr13:23910414 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001111811]|Spastic paraplegia [RCV001223402] |
Chr13:23339094 [GRCh38]
Chr13:23913233 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7614A>C (p.Ala2538=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112100]|Spastic paraplegia [RCV001454999] |
Chr13:23336262 [GRCh38]
Chr13:23910401 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.6096G>A (p.Ser2032=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112181] |
Chr13:23337780 [GRCh38]
Chr13:23911919 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*1108G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113252] |
Chr13:23329028 [GRCh38]
Chr13:23903167 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*1039C>T |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113253] |
Chr13:23329097 [GRCh38]
Chr13:23903236 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113447] |
Chr13:23333171 [GRCh38]
Chr13:23907310 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) |
single nucleotide variant |
Spastic paraplegia [RCV001003608] |
Chr13:23335772 [GRCh38]
Chr13:23909911 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.447G>A (p.Ala149=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113813]|Spastic paraplegia [RCV001489166] |
Chr13:23365176 [GRCh38]
Chr13:23939315 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.*569G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001108989] |
Chr13:23329567 [GRCh38]
Chr13:23903706 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.*461G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001108990] |
Chr13:23329675 [GRCh38]
Chr13:23903814 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109105] |
Chr13:23331841 [GRCh38]
Chr13:23905980 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2186-116_2186-110dup |
duplication |
not provided [RCV001587152] |
Chr13:23341780..23341781 [GRCh38]
Chr13:23915919..23915920 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6679T>A (p.Leu2227Met) |
single nucleotide variant |
Spastic paraplegia [RCV001061759] |
Chr13:23337197 [GRCh38]
Chr13:23911336 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.260-232C>G |
single nucleotide variant |
not provided [RCV001652901] |
Chr13:23368719 [GRCh38]
Chr13:23942858 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.2186-116dup |
duplication |
not provided [RCV001609191] |
Chr13:23341780..23341781 [GRCh38]
Chr13:23915919..23915920 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.2927G>A (p.Arg976His) |
single nucleotide variant |
Spastic ataxia [RCV001647189]|Spastic paraplegia [RCV002546246] |
Chr13:23340949 [GRCh38]
Chr13:23915088 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11282del (p.Leu3761fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001588048] |
Chr13:23332594 [GRCh38]
Chr13:23906733 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2225G>C (p.Arg742Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001647239] |
Chr13:23341651 [GRCh38]
Chr13:23915790 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.21-268_21-266del |
microsatellite |
not provided [RCV001679141] |
Chr13:23375535..23375537 [GRCh38]
Chr13:23949674..23949676 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.2186-92_2186-91del |
deletion |
not provided [RCV001536274] |
Chr13:23341781..23341782 [GRCh38]
Chr13:23915920..23915921 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12182G>A (p.Gly4061Asp) |
single nucleotide variant |
not provided [RCV001663547] |
Chr13:23331694 [GRCh38]
Chr13:23905833 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832845]|Hereditary spastic paraplegia [RCV001847316]|Spastic paraplegia [RCV002538572]|not provided [RCV001663558] |
Chr13:23338246 [GRCh38]
Chr13:23912385 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.744A>G (p.Ala248=) |
single nucleotide variant |
Spastic paraplegia [RCV002073094]|not provided [RCV001663561] |
Chr13:23355868 [GRCh38]
Chr13:23930007 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.*1142G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113251] |
Chr13:23328994 [GRCh38]
Chr13:23903133 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113534]|Spastic paraplegia [RCV002558133] |
Chr13:23334593 [GRCh38]
Chr13:23908732 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001579249] |
Chr13:23336428 [GRCh38]
Chr13:23910567 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001003607] |
Chr13:23334610 [GRCh38]
Chr13:23908749 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113728]|Spastic paraplegia [RCV002556220] |
Chr13:23354850 [GRCh38]
Chr13:23928989 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.598A>G (p.Ile200Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277273]|Spastic paraplegia [RCV001067073] |
Chr13:23358341 [GRCh38]
Chr13:23932480 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser) |
single nucleotide variant |
Spastic paraplegia [RCV001039285] |
Chr13:23337416 [GRCh38]
Chr13:23911555 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001233062] |
Chr13:23334132 [GRCh38]
Chr13:23908271 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001785771]|Spastic paraplegia [RCV001039830]|not provided [RCV001289179] |
Chr13:23338448 [GRCh38]
Chr13:23912587 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8793dup (p.Arg2932fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV001785796]|Hereditary spastic paraplegia [RCV001847200]|Spastic paraplegia [RCV001233437]|not provided [RCV001288377] |
Chr13:23335082..23335083 [GRCh38]
Chr13:23909221..23909222 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7250_7254del (p.Thr2417fs) |
deletion |
Spastic paraplegia [RCV001050533] |
Chr13:23336622..23336626 [GRCh38]
Chr13:23910761..23910765 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001112285]|Hereditary spastic paraplegia [RCV001847159]|Spastic paraplegia [RCV001523475] |
Chr13:23339861 [GRCh38]
Chr13:23914000 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.7613C>T (p.Ala2538Val) |
single nucleotide variant |
Spastic paraplegia [RCV001234949] |
Chr13:23336263 [GRCh38]
Chr13:23910402 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12816C>T (p.Gly4272=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113356] |
Chr13:23331060 [GRCh38]
Chr13:23905199 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113531] |
Chr13:23334097 [GRCh38]
Chr13:23908236 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001214103] |
Chr13:23333021 [GRCh38]
Chr13:23907160 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.*919T>C |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114617] |
Chr13:23329217 [GRCh38]
Chr13:23903356 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001114732]|Spastic paraplegia [RCV001419743] |
Chr13:23331229 [GRCh38]
Chr13:23905368 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832428]|Spastic paraplegia [RCV001045016] |
Chr13:23330262 [GRCh38]
Chr13:23904401 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3343G>A (p.Val1115Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001833820]|Spastic paraplegia [RCV001207086] |
Chr13:23340533 [GRCh38]
Chr13:23914672 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9956_9957dup (p.Val3320fs) |
duplication |
Spastic paraplegia [RCV001037067] |
Chr13:23333918..23333919 [GRCh38]
Chr13:23908057..23908058 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001064865] |
Chr13:23335405 [GRCh38]
Chr13:23909544 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7764_7767dup (p.Val2590fs) |
duplication |
Spastic paraplegia [RCV001046076] |
Chr13:23336108..23336109 [GRCh38]
Chr13:23910247..23910248 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003469338]|Spastic paraplegia [RCV001207414]|not provided [RCV002462358] |
Chr13:23338294 [GRCh38]
Chr13:23912433 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780126]|Inborn genetic diseases [RCV003363166]|Spastic paraplegia [RCV001212079]|not provided [RCV001507816] |
Chr13:23334601 [GRCh38]
Chr13:23908740 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13344C>T (p.Arg4448=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113353]|Spastic paraplegia [RCV001514077] |
Chr13:23330532 [GRCh38]
Chr13:23904671 [GRCh37]
Chr13:13q12.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.13281T>A (p.Thr4427=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001113354] |
Chr13:23330595 [GRCh38]
Chr13:23904734 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001036146] |
Chr13:23335422 [GRCh38]
Chr13:23909561 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001174760]|Spastic paraplegia [RCV001387163] |
Chr13:23338733 [GRCh38]
Chr13:23912872 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1310C>G (p.Thr437Arg) |
single nucleotide variant |
Spastic paraplegia [RCV001230153] |
Chr13:23355302 [GRCh38]
Chr13:23929441 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001195790]|Inborn genetic diseases [RCV002560209]|Spastic paraplegia [RCV002559244]|not provided [RCV003482337] |
Chr13:23339152 [GRCh38]
Chr13:23913291 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003106157]|not provided [RCV001200358] |
Chr13:23335710 [GRCh38]
Chr13:23909849 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001192590]|Spastic paraplegia [RCV001232497] |
Chr13:23337872..23337876 [GRCh38]
Chr13:23912011..23912015 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.23G>A (p.Trp8Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003473764]|Spastic paraplegia [RCV001215300] |
Chr13:23375267 [GRCh38]
Chr13:23949406 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7272C>A (p.Cys2424Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001062774] |
Chr13:23336604 [GRCh38]
Chr13:23910743 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274925]|Spastic paraplegia [RCV001039809] |
Chr13:23334644 [GRCh38]
Chr13:23908783 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001004402]|Spastic paraplegia [RCV003750840] |
Chr13:23333330 [GRCh38]
Chr13:23907469 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5043C>T (p.His1681=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109530]|Spastic paraplegia [RCV002555066] |
Chr13:23338833 [GRCh38]
Chr13:23912972 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4986G>A (p.Thr1662=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001109531]|Spastic paraplegia [RCV001425988] |
Chr13:23338890 [GRCh38]
Chr13:23913029 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly) |
single nucleotide variant |
Spastic paraplegia [RCV001215700] |
Chr13:23335715 [GRCh38]
Chr13:23909854 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001255708]|Spastic paraplegia [RCV001383726] |
Chr13:23338943 [GRCh38]
Chr13:23913082 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4846A>C (p.Asn1616His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827569]|not provided [RCV001663557] |
Chr13:23339030 [GRCh38]
Chr13:23913169 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002539649]|not provided [RCV001663560] |
Chr13:23337125 [GRCh38]
Chr13:23911264 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832846]|not provided [RCV001663562] |
Chr13:23335960 [GRCh38]
Chr13:23910099 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002284304] |
Chr13:23333429..23333432 [GRCh38]
Chr13:23907568..23907571 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2829dup (p.Leu944fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV001255707] |
Chr13:23341046..23341047 [GRCh38]
Chr13:23915185..23915186 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5492del (p.Lys1831fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001255857] |
Chr13:23338384 [GRCh38]
Chr13:23912523 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001262393] |
Chr13:23336179 [GRCh38]
Chr13:23910318 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9879del (p.Val3294fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001808018] |
Chr13:23333997 [GRCh38]
Chr13:23908136 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001333045] |
Chr13:23333096 [GRCh38]
Chr13:23907235 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys) |
single nucleotide variant |
not provided [RCV001310675] |
Chr13:23330645 [GRCh38]
Chr13:23904784 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5557C>T (p.Leu1853=) |
single nucleotide variant |
Spastic paraplegia [RCV001412127]|not provided [RCV001310677] |
Chr13:23338319 [GRCh38]
Chr13:23912458 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6290del (p.Cys2097fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002271637]|not provided [RCV001268275] |
Chr13:23337586 [GRCh38]
Chr13:23911725 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001535820] |
Chr13:23337751 [GRCh38]
Chr13:23911890 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter) |
single nucleotide variant |
not provided [RCV001268338] |
Chr13:23338965 [GRCh38]
Chr13:23913104 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835367]|Spastic paraplegia [RCV002537964]|not provided [RCV001287908] |
Chr13:23337174 [GRCh38]
Chr13:23911313 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.699del (p.Asp235fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001391615]|not provided [RCV001287911] |
Chr13:23355913 [GRCh38]
Chr13:23930052 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8192G>A (p.Arg2731His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001328753]|Spastic paraplegia [RCV002537966]|not provided [RCV001287918] |
Chr13:23335684 [GRCh38]
Chr13:23909823 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.12077C>A (p.Ala4026Asp) |
single nucleotide variant |
not provided [RCV001269830] |
Chr13:23331799 [GRCh38]
Chr13:23905938 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002499459]|Spastic paraplegia [RCV002541639]|not provided [RCV001268846] |
Chr13:23331962 [GRCh38]
Chr13:23906101 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs) |
deletion |
not provided [RCV001268847] |
Chr13:23340575..23340578 [GRCh38]
Chr13:23914714..23914717 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7374del (p.Met2459fs) |
deletion |
not provided [RCV001287914] |
Chr13:23336502 [GRCh38]
Chr13:23910641 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830102]|Spastic paraplegia [RCV002069552]|not provided [RCV001288712] |
Chr13:23341070 [GRCh38]
Chr13:23915209 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro) |
single nucleotide variant |
not provided [RCV001289180] |
Chr13:23338205 [GRCh38]
Chr13:23912344 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3059dup (p.Ser1021fs) |
duplication |
Inborn genetic diseases [RCV001265929] |
Chr13:23340816..23340817 [GRCh38]
Chr13:23914955..23914956 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 |
copy number gain |
not provided [RCV001258538] |
Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3 |
likely pathogenic |
| NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001827568]|not provided [RCV001663544] |
Chr13:23332669 [GRCh38]
Chr13:23906808 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001262659] |
Chr13:23338255 [GRCh38]
Chr13:23912394 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002790005] |
Chr13:23332784 [GRCh38]
Chr13:23906923 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835372]|Inborn genetic diseases [RCV002542996]|Spastic paraplegia [RCV002541790]|not provided [RCV001288699] |
Chr13:23331686 [GRCh38]
Chr13:23905825 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1387C>A (p.His463Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830100]|Spastic paraplegia [RCV003588736]|not provided [RCV001288707] |
Chr13:23355225 [GRCh38]
Chr13:23929364 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys) |
single nucleotide variant |
not provided [RCV001288376] |
Chr13:23335546 [GRCh38]
Chr13:23909685 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11887A>G (p.Met3963Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830099]|Spastic paraplegia [RCV002541789]|not provided [RCV001288697] |
Chr13:23331989 [GRCh38]
Chr13:23906128 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13590T>C (p.Gly4530=) |
single nucleotide variant |
not provided [RCV001288704] |
Chr13:23330286 [GRCh38]
Chr13:23904425 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830101]|Inborn genetic diseases [RCV002537977]|Spastic paraplegia [RCV002541792]|not provided [RCV001288711] |
Chr13:23341291 [GRCh38]
Chr13:23915430 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830107]|Spastic paraplegia [RCV003588737]|not provided [RCV001289174] |
Chr13:23339036 [GRCh38]
Chr13:23913175 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001836255]|Spastic paraplegia [RCV003750861]|not provided [RCV001288372] |
Chr13:23333089 [GRCh38]
Chr13:23907228 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9332del (p.Asn3111fs) |
deletion |
not provided [RCV001288378] |
Chr13:23334544 [GRCh38]
Chr13:23908683 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV001835373]|not provided [RCV001288710] |
Chr13:23354570..23354572 [GRCh38]
Chr13:23928709..23928711 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830105]|not provided [RCV001289171] |
Chr13:23339577 [GRCh38]
Chr13:23913716 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.25G>A (p.Val9Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001333046] |
Chr13:23375265 [GRCh38]
Chr13:23949404 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001315413] |
Chr13:23340137 [GRCh38]
Chr13:23914276 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7974C>G (p.Ala2658=) |
single nucleotide variant |
Spastic paraplegia [RCV001414933] |
Chr13:23335902 [GRCh38]
Chr13:23910041 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8307C>A (p.Ile2769=) |
single nucleotide variant |
Spastic paraplegia [RCV001396564] |
Chr13:23335569 [GRCh38]
Chr13:23909708 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4701T>C (p.Thr1567=) |
single nucleotide variant |
Spastic paraplegia [RCV001414690] |
Chr13:23339175 [GRCh38]
Chr13:23913314 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6978C>G (p.Ala2326=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847259]|Spastic paraplegia [RCV001397675] |
Chr13:23336898 [GRCh38]
Chr13:23911037 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3591C>T (p.Ser1197=) |
single nucleotide variant |
Spastic paraplegia [RCV001392841] |
Chr13:23340285 [GRCh38]
Chr13:23914424 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1590T>C (p.Val530=) |
single nucleotide variant |
Spastic paraplegia [RCV001414416] |
Chr13:23355022 [GRCh38]
Chr13:23929161 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4674T>G (p.Leu1558=) |
single nucleotide variant |
Spastic paraplegia [RCV001422260] |
Chr13:23339202 [GRCh38]
Chr13:23913341 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002537971]|not provided [RCV001288379] |
Chr13:23334357 [GRCh38]
Chr13:23908496 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11109C>T (p.Ser3703=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780235]|Spastic paraplegia [RCV001454515]|not provided [RCV001288695] |
Chr13:23332767 [GRCh38]
Chr13:23906906 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835371]|Spastic paraplegia [RCV002542995]|not provided [RCV001288698] |
Chr13:23331746 [GRCh38]
Chr13:23905885 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.12618T>C (p.Ile4206=) |
single nucleotide variant |
Spastic paraplegia [RCV002541791]|not provided [RCV001288700] |
Chr13:23331258 [GRCh38]
Chr13:23905397 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1254A>C (p.Pro418=) |
single nucleotide variant |
Spastic paraplegia [RCV001392849] |
Chr13:23355358 [GRCh38]
Chr13:23929497 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4689G>A (p.Val1563=) |
single nucleotide variant |
Spastic paraplegia [RCV001396694] |
Chr13:23339187 [GRCh38]
Chr13:23913326 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2997T>A (p.Ile999=) |
single nucleotide variant |
not provided [RCV001289168] |
Chr13:23340879 [GRCh38]
Chr13:23915018 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830108]|Spastic paraplegia [RCV002537985]|not provided [RCV001289176] |
Chr13:23338963 [GRCh38]
Chr13:23913102 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5337G>A (p.Ser1779=) |
single nucleotide variant |
Spastic paraplegia [RCV001460769]|not provided [RCV001289178] |
Chr13:23338539 [GRCh38]
Chr13:23912678 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10731A>G (p.Thr3577=) |
single nucleotide variant |
Spastic paraplegia [RCV002069549]|not provided [RCV001288371] |
Chr13:23333145 [GRCh38]
Chr13:23907284 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11853A>G (p.Leu3951=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835370]|not provided [RCV001288696] |
Chr13:23332023 [GRCh38]
Chr13:23906162 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4457A>T (p.Asp1486Val) |
single nucleotide variant |
Spastic paraplegia [RCV001374236] |
Chr13:23339419 [GRCh38]
Chr13:23913558 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13533A>G (p.Glu4511=) |
single nucleotide variant |
Spastic paraplegia [RCV001391932] |
Chr13:23330343 [GRCh38]
Chr13:23904482 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.477C>T (p.Tyr159=) |
single nucleotide variant |
Spastic paraplegia [RCV002070096]|not provided [RCV001289172] |
Chr13:23358462 [GRCh38]
Chr13:23932601 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1627G>A (p.Val543Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001336180]|Inborn genetic diseases [RCV002547351] |
Chr13:23354985 [GRCh38]
Chr13:23929124 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12285C>T (p.Asp4095=) |
single nucleotide variant |
Spastic paraplegia [RCV001392120] |
Chr13:23331591 [GRCh38]
Chr13:23905730 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7395G>A (p.Ser2465=) |
single nucleotide variant |
Spastic paraplegia [RCV001412965] |
Chr13:23336481 [GRCh38]
Chr13:23910620 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13320G>A (p.Ser4440=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277475]|Spastic paraplegia [RCV001880227] |
Chr13:23330556 [GRCh38]
Chr13:23904695 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277478] |
Chr13:23331949 [GRCh38]
Chr13:23906088 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9573A>G (p.Thr3191=) |
single nucleotide variant |
Spastic paraplegia [RCV001421077] |
Chr13:23334303 [GRCh38]
Chr13:23908442 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13156C>T (p.Arg4386Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001382512] |
Chr13:23330720 [GRCh38]
Chr13:23904859 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7449T>C (p.Tyr2483=) |
single nucleotide variant |
Spastic paraplegia [RCV001433120] |
Chr13:23336427 [GRCh38]
Chr13:23910566 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5610G>A (p.Val1870=) |
single nucleotide variant |
Spastic paraplegia [RCV001414505] |
Chr13:23338266 [GRCh38]
Chr13:23912405 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1794G>C (p.Gly598=) |
single nucleotide variant |
Spastic paraplegia [RCV001396959] |
Chr13:23354818 [GRCh38]
Chr13:23928957 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1005G>A (p.Ser335=) |
single nucleotide variant |
Spastic paraplegia [RCV001422621] |
Chr13:23355607 [GRCh38]
Chr13:23929746 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10819A>G (p.Ile3607Val) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278819] |
Chr13:23333057 [GRCh38]
Chr13:23907196 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8768T>C (p.Val2923Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278822] |
Chr13:23335108 [GRCh38]
Chr13:23909247 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10617T>C (p.His3539=) |
single nucleotide variant |
Spastic paraplegia [RCV001415204] |
Chr13:23333259 [GRCh38]
Chr13:23907398 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2223A>G (p.Glu741=) |
single nucleotide variant |
Spastic paraplegia [RCV001392009] |
Chr13:23341653 [GRCh38]
Chr13:23915792 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9801A>G (p.Thr3267=) |
single nucleotide variant |
Spastic paraplegia [RCV001396826] |
Chr13:23334075 [GRCh38]
Chr13:23908214 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2814T>C (p.Ile938=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847267]|Spastic paraplegia [RCV001414803] |
Chr13:23341062 [GRCh38]
Chr13:23915201 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12661C>T (p.Leu4221=) |
single nucleotide variant |
Spastic paraplegia [RCV001415212] |
Chr13:23331215 [GRCh38]
Chr13:23905354 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7347C>A (p.Gly2449=) |
single nucleotide variant |
Spastic paraplegia [RCV001433281] |
Chr13:23336529 [GRCh38]
Chr13:23910668 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001382750] |
Chr13:23337576 [GRCh38]
Chr13:23911715 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8604C>T (p.Phe2868=) |
single nucleotide variant |
Spastic paraplegia [RCV001392073] |
Chr13:23335272 [GRCh38]
Chr13:23909411 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2352A>G (p.Lys784=) |
single nucleotide variant |
Spastic paraplegia [RCV001423068] |
Chr13:23341524 [GRCh38]
Chr13:23915663 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6222T>C (p.Asp2074=) |
single nucleotide variant |
Spastic paraplegia [RCV001396187] |
Chr13:23337654 [GRCh38]
Chr13:23911793 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.561C>T (p.Val187=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003136066]|Spastic paraplegia [RCV001392388] |
Chr13:23358378 [GRCh38]
Chr13:23932517 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12702T>C (p.Tyr4234=) |
single nucleotide variant |
Spastic paraplegia [RCV001422785] |
Chr13:23331174 [GRCh38]
Chr13:23905313 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe) |
single nucleotide variant |
not provided [RCV001357115] |
Chr13:23334974 [GRCh38]
Chr13:23909113 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.498A>G (p.Pro166=) |
single nucleotide variant |
Spastic paraplegia [RCV001414844] |
Chr13:23358441 [GRCh38]
Chr13:23932580 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1950T>C (p.Leu650=) |
single nucleotide variant |
Spastic paraplegia [RCV001423118] |
Chr13:23354662 [GRCh38]
Chr13:23928801 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391383] |
Chr13:23331338 [GRCh38]
Chr13:23905477 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.831A>G (p.Leu277=) |
single nucleotide variant |
Spastic paraplegia [RCV001414170] |
Chr13:23355781 [GRCh38]
Chr13:23929920 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1358del (p.Gly453fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001391617]|Spastic paraplegia [RCV001880216] |
Chr13:23355254 [GRCh38]
Chr13:23929393 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10932dup (p.Leu3645fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV001391627] |
Chr13:23332943..23332944 [GRCh38]
Chr13:23907082..23907083 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10542G>A (p.Lys3514=) |
single nucleotide variant |
Spastic paraplegia [RCV001415379] |
Chr13:23333334 [GRCh38]
Chr13:23907473 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.414C>T (p.Tyr138=) |
single nucleotide variant |
Spastic paraplegia [RCV001434007] |
Chr13:23365209 [GRCh38]
Chr13:23939348 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly) |
single nucleotide variant |
Spastic paraplegia [RCV001295168] |
Chr13:23332619 [GRCh38]
Chr13:23906758 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1522C>T (p.Leu508=) |
single nucleotide variant |
Spastic paraplegia [RCV001433791] |
Chr13:23355090 [GRCh38]
Chr13:23929229 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830141]|Spastic paraplegia [RCV001296954] |
Chr13:23332726 [GRCh38]
Chr13:23906865 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2423T>C (p.Leu808Pro) |
single nucleotide variant |
not provided [RCV001354184] |
Chr13:23341453 [GRCh38]
Chr13:23915592 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2597A>G (p.Lys866Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001336181]|Spastic paraplegia [RCV002546765] |
Chr13:23341279 [GRCh38]
Chr13:23915418 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.1421G>A (p.Arg474His) |
single nucleotide variant |
Spastic paraplegia [RCV001346603] |
Chr13:23355191 [GRCh38]
Chr13:23929330 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1229T>C (p.Leu410Ser) |
single nucleotide variant |
Spastic paraplegia [RCV001297939] |
Chr13:23355383 [GRCh38]
Chr13:23929522 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9492A>C (p.Gln3164His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825934]|Spastic paraplegia [RCV001346818] |
Chr13:23334384 [GRCh38]
Chr13:23908523 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11684T>G (p.Val3895Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835466]|Spastic paraplegia [RCV001303997] |
Chr13:23332192 [GRCh38]
Chr13:23906331 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278825] |
Chr13:23337757 [GRCh38]
Chr13:23911896 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001328754]|Spastic paraplegia [RCV001386448]|not provided [RCV001820019] |
Chr13:23335160 [GRCh38]
Chr13:23909299 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3992A>G (p.His1331Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278829] |
Chr13:23339884 [GRCh38]
Chr13:23914023 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7207G>C (p.Val2403Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001836330]|Spastic paraplegia [RCV001341618] |
Chr13:23336669 [GRCh38]
Chr13:23910808 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8925T>C (p.Tyr2975=) |
single nucleotide variant |
Spastic paraplegia [RCV001421230] |
Chr13:23334951 [GRCh38]
Chr13:23909090 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11576G>A (p.Arg3859His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001336179]|Spastic paraplegia [RCV002547350] |
Chr13:23332300 [GRCh38]
Chr13:23906439 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.402T>C (p.Asp134=) |
single nucleotide variant |
Spastic paraplegia [RCV001421410] |
Chr13:23365221 [GRCh38]
Chr13:23939360 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001328752] |
Chr13:23336935 [GRCh38]
Chr13:23911074 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10158A>G (p.Ala3386=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780234]|Spastic paraplegia [RCV001398932]|not provided [RCV001288367] |
Chr13:23333718 [GRCh38]
Chr13:23907857 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001421040]|Spastic paraplegia [RCV003588740] |
Chr13:23334010 [GRCh38]
Chr13:23908149 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.482A>G (p.Asn161Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001830106]|not provided [RCV001289173] |
Chr13:23358457 [GRCh38]
Chr13:23932596 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4899A>T (p.Val1633=) |
single nucleotide variant |
Spastic paraplegia [RCV001409442]|not provided [RCV001289175] |
Chr13:23338977 [GRCh38]
Chr13:23913116 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10497C>T (p.Tyr3499=) |
single nucleotide variant |
Spastic paraplegia [RCV001413940] |
Chr13:23333379 [GRCh38]
Chr13:23907518 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 |
copy number gain |
See cases [RCV001353184] |
Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277476] |
Chr13:23331241 [GRCh38]
Chr13:23905380 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10983G>A (p.Ala3661=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277480]|Spastic paraplegia [RCV002541661]|not provided [RCV003399046]|not specified [RCV001644967] |
Chr13:23332893 [GRCh38]
Chr13:23907032 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|uncertain significance |
| NM_014363.6(SACS):c.13509T>G (p.Thr4503=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277474]|Spastic paraplegia [RCV001495788] |
Chr13:23330367 [GRCh38]
Chr13:23904506 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001277479] |
Chr13:23332873 [GRCh38]
Chr13:23907012 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001732142]|Hereditary spastic paraplegia [RCV001847251]|Spastic paraplegia [RCV001367103] |
Chr13:23354671 [GRCh38]
Chr13:23928810 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391618] |
Chr13:23339158 [GRCh38]
Chr13:23913297 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391619] |
Chr13:23339152 [GRCh38]
Chr13:23913291 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4835dup (p.Phe1614fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV001391620] |
Chr13:23339040..23339041 [GRCh38]
Chr13:23913179..23913180 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391621] |
Chr13:23338115 [GRCh38]
Chr13:23912254 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391622] |
Chr13:23337750 [GRCh38]
Chr13:23911889 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391623]|Spastic paraplegia [RCV001880217] |
Chr13:23337226 [GRCh38]
Chr13:23911365 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391624] |
Chr13:23336602 [GRCh38]
Chr13:23910741 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8227del (p.His2743fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001391625] |
Chr13:23335649 [GRCh38]
Chr13:23909788 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8802C>T (p.Phe2934=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278821] |
Chr13:23335074 [GRCh38]
Chr13:23909213 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278827] |
Chr13:23338913 [GRCh38]
Chr13:23913052 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2322A>G (p.Pro774=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001278832]|Spastic paraplegia [RCV001413369] |
Chr13:23341554 [GRCh38]
Chr13:23915693 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001835432]|Spastic paraplegia [RCV001300358] |
Chr13:23337380 [GRCh38]
Chr13:23911519 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391381] |
Chr13:23331862 [GRCh38]
Chr13:23906001 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12268C>A (p.His4090Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001391382] |
Chr13:23331608 [GRCh38]
Chr13:23905747 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2175C>T (p.Ala725=) |
single nucleotide variant |
Spastic paraplegia [RCV001412529] |
Chr13:23353795 [GRCh38]
Chr13:23927934 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.914_915del (p.Thr305fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV001391616] |
Chr13:23355697..23355698 [GRCh38]
Chr13:23929836..23929837 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10634_10635del (p.Val3545fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV001391626] |
Chr13:23333241..23333242 [GRCh38]
Chr13:23907380..23907381 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5112C>T (p.Asn1704=) |
single nucleotide variant |
Spastic paraplegia [RCV001413437] |
Chr13:23338764 [GRCh38]
Chr13:23912903 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro) |
single nucleotide variant |
Spastic paraplegia [RCV001368615] |
Chr13:23336660 [GRCh38]
Chr13:23910799 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001826003]|Spastic paraplegia [RCV001360855] |
Chr13:23330651 [GRCh38]
Chr13:23904790 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001421041] |
Chr13:23335744 [GRCh38]
Chr13:23909883 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4107T>C (p.Asn1369=) |
single nucleotide variant |
Spastic paraplegia [RCV001422120] |
Chr13:23339769 [GRCh38]
Chr13:23913908 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001825992]|Inborn genetic diseases [RCV004034523]|Spastic paraplegia [RCV001359227] |
Chr13:23333086 [GRCh38]
Chr13:23907225 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5421G>A (p.Glu1807=) |
single nucleotide variant |
Spastic paraplegia [RCV001413647] |
Chr13:23338455 [GRCh38]
Chr13:23912594 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9168T>C (p.Tyr3056=) |
single nucleotide variant |
Spastic paraplegia [RCV001494208] |
Chr13:23334708 [GRCh38]
Chr13:23908847 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001785821]|Hereditary spastic paraplegia [RCV001847284]|Spastic paraplegia [RCV001865926]|not provided [RCV001507814] |
Chr13:23332627 [GRCh38]
Chr13:23906766 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1101C>T (p.Asn367=) |
single nucleotide variant |
Spastic paraplegia [RCV001412365] |
Chr13:23355511 [GRCh38]
Chr13:23929650 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001297736] |
Chr13:23340547 [GRCh38]
Chr13:23914686 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3825T>C (p.Phe1275=) |
single nucleotide variant |
Spastic paraplegia [RCV001396201] |
Chr13:23340051 [GRCh38]
Chr13:23914190 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12609T>C (p.Tyr4203=) |
single nucleotide variant |
Spastic paraplegia [RCV001414095] |
Chr13:23331267 [GRCh38]
Chr13:23905406 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10608A>G (p.Gln3536=) |
single nucleotide variant |
Spastic paraplegia [RCV001413220] |
Chr13:23333268 [GRCh38]
Chr13:23907407 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3281dup (p.Asn1094fs) |
duplication |
Abnormal central motor function [RCV001814320]|Charlevoix-Saguenay spastic ataxia [RCV001421039]|Spastic paraplegia [RCV003588739] |
Chr13:23340594..23340595 [GRCh38]
Chr13:23914733..23914734 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10915T>C (p.Leu3639=) |
single nucleotide variant |
Spastic paraplegia [RCV001413014] |
Chr13:23332961 [GRCh38]
Chr13:23907100 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1038G>A (p.Pro346=) |
single nucleotide variant |
Spastic paraplegia [RCV001413062] |
Chr13:23355574 [GRCh38]
Chr13:23929713 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12753C>T (p.Ser4251=) |
single nucleotide variant |
Spastic paraplegia [RCV001506808] |
Chr13:23331123 [GRCh38]
Chr13:23905262 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4857A>G (p.Lys1619=) |
single nucleotide variant |
Spastic paraplegia [RCV001469267] |
Chr13:23339019 [GRCh38]
Chr13:23913158 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2193A>G (p.Pro731=) |
single nucleotide variant |
Spastic paraplegia [RCV001473013] |
Chr13:23341683 [GRCh38]
Chr13:23915822 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7911T>G (p.Ser2637=) |
single nucleotide variant |
Spastic paraplegia [RCV001499000] |
Chr13:23335965 [GRCh38]
Chr13:23910104 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10725T>C (p.His3575=) |
single nucleotide variant |
Spastic paraplegia [RCV001457483] |
Chr13:23333151 [GRCh38]
Chr13:23907290 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6135A>T (p.Ile2045=) |
single nucleotide variant |
Spastic paraplegia [RCV001494836] |
Chr13:23337741 [GRCh38]
Chr13:23911880 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10276T>C (p.Phe3426Leu) |
single nucleotide variant |
not provided [RCV001507815] |
Chr13:23333600 [GRCh38]
Chr13:23907739 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001826273]|Spastic paraplegia [RCV001450119] |
Chr13:23334088 [GRCh38]
Chr13:23908227 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7674G>A (p.Ala2558=) |
single nucleotide variant |
Spastic paraplegia [RCV001501530] |
Chr13:23336202 [GRCh38]
Chr13:23910341 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12348C>T (p.Asp4116=) |
single nucleotide variant |
Spastic paraplegia [RCV001464187] |
Chr13:23331528 [GRCh38]
Chr13:23905667 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1833T>C (p.Ala611=) |
single nucleotide variant |
Spastic paraplegia [RCV001469544] |
Chr13:23354779 [GRCh38]
Chr13:23928918 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1599G>A (p.Lys533=) |
single nucleotide variant |
Spastic paraplegia [RCV001474992] |
Chr13:23355013 [GRCh38]
Chr13:23929152 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5910A>G (p.Gly1970=) |
single nucleotide variant |
Spastic paraplegia [RCV001475022] |
Chr13:23337966 [GRCh38]
Chr13:23912105 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13482A>C (p.Gly4494=) |
single nucleotide variant |
Spastic paraplegia [RCV001492227] |
Chr13:23330394 [GRCh38]
Chr13:23904533 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1035G>A (p.Arg345=) |
single nucleotide variant |
Spastic paraplegia [RCV001495543] |
Chr13:23355577 [GRCh38]
Chr13:23929716 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5322T>C (p.Ile1774=) |
single nucleotide variant |
Spastic paraplegia [RCV001454574] |
Chr13:23338554 [GRCh38]
Chr13:23912693 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8187A>G (p.Lys2729=) |
single nucleotide variant |
Spastic paraplegia [RCV001465039] |
Chr13:23335689 [GRCh38]
Chr13:23909828 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9021C>T (p.His3007=) |
single nucleotide variant |
Spastic paraplegia [RCV001495345] |
Chr13:23334855 [GRCh38]
Chr13:23908994 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.696T>C (p.Asn232=) |
single nucleotide variant |
Spastic paraplegia [RCV001441056] |
Chr13:23355916 [GRCh38]
Chr13:23930055 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12429T>C (p.Tyr4143=) |
single nucleotide variant |
Spastic paraplegia [RCV001460933] |
Chr13:23331447 [GRCh38]
Chr13:23905586 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12451C>T (p.Leu4151=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001826362]|Spastic paraplegia [RCV001513906] |
Chr13:23331425 [GRCh38]
Chr13:23905564 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.9057T>C (p.Thr3019=) |
single nucleotide variant |
Spastic paraplegia [RCV001424550] |
Chr13:23334819 [GRCh38]
Chr13:23908958 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13473T>C (p.Ala4491=) |
single nucleotide variant |
Spastic paraplegia [RCV001481629] |
Chr13:23330403 [GRCh38]
Chr13:23904542 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5790C>T (p.Asp1930=) |
single nucleotide variant |
Spastic paraplegia [RCV001473168] |
Chr13:23338086 [GRCh38]
Chr13:23912225 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13218G>A (p.Thr4406=) |
single nucleotide variant |
Spastic paraplegia [RCV001473322] |
Chr13:23330658 [GRCh38]
Chr13:23904797 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13476G>C (p.Val4492=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578939]|Spastic paraplegia [RCV001475170] |
Chr13:23330400 [GRCh38]
Chr13:23904539 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5985T>C (p.Asp1995=) |
single nucleotide variant |
Spastic paraplegia [RCV001499377] |
Chr13:23337891 [GRCh38]
Chr13:23912030 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2823T>C (p.Tyr941=) |
single nucleotide variant |
Spastic paraplegia [RCV001454861] |
Chr13:23341053 [GRCh38]
Chr13:23915192 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6585A>G (p.Lys2195=) |
single nucleotide variant |
Spastic paraplegia [RCV001457946] |
Chr13:23337291 [GRCh38]
Chr13:23911430 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2212C>T (p.Leu738=) |
single nucleotide variant |
Spastic paraplegia [RCV001441129] |
Chr13:23341664 [GRCh38]
Chr13:23915803 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1881G>A (p.Thr627=) |
single nucleotide variant |
Spastic paraplegia [RCV001453860] |
Chr13:23354731 [GRCh38]
Chr13:23928870 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6849A>T (p.Gly2283=) |
single nucleotide variant |
Spastic paraplegia [RCV001470292] |
Chr13:23337027 [GRCh38]
Chr13:23911166 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9339T>C (p.His3113=) |
single nucleotide variant |
Spastic paraplegia [RCV001495893] |
Chr13:23334537 [GRCh38]
Chr13:23908676 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11877T>G (p.Thr3959=) |
single nucleotide variant |
Spastic paraplegia [RCV001436055] |
Chr13:23331999 [GRCh38]
Chr13:23906138 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2904C>T (p.Asp968=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832666]|Spastic paraplegia [RCV001504618] |
Chr13:23340972 [GRCh38]
Chr13:23915111 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5766A>G (p.Leu1922=) |
single nucleotide variant |
Spastic paraplegia [RCV001470526] |
Chr13:23338110 [GRCh38]
Chr13:23912249 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3552A>C (p.Pro1184=) |
single nucleotide variant |
Spastic paraplegia [RCV001490877] |
Chr13:23340324 [GRCh38]
Chr13:23914463 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9861T>C (p.Thr3287=) |
single nucleotide variant |
Spastic paraplegia [RCV001475313] |
Chr13:23334015 [GRCh38]
Chr13:23908154 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12168A>G (p.Thr4056=) |
single nucleotide variant |
Spastic paraplegia [RCV001458506] |
Chr13:23331708 [GRCh38]
Chr13:23905847 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2652A>T (p.Pro884=) |
single nucleotide variant |
Spastic paraplegia [RCV001441558] |
Chr13:23341224 [GRCh38]
Chr13:23915363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10233G>A (p.Pro3411=) |
single nucleotide variant |
SACS-related condition [RCV003965781]|Spastic paraplegia [RCV001417389] |
Chr13:23333643 [GRCh38]
Chr13:23907782 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10299A>T (p.Thr3433=) |
single nucleotide variant |
Spastic paraplegia [RCV001484534] |
Chr13:23333577 [GRCh38]
Chr13:23907716 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4419A>C (p.Ser1473=) |
single nucleotide variant |
Spastic paraplegia [RCV001484573] |
Chr13:23339457 [GRCh38]
Chr13:23913596 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2409C>T (p.Ile803=) |
single nucleotide variant |
Spastic paraplegia [RCV001484576] |
Chr13:23341467 [GRCh38]
Chr13:23915606 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004037840]|Spastic paraplegia [RCV001504896] |
Chr13:23336827 [GRCh38]
Chr13:23910966 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13692T>C (p.Thr4564=) |
single nucleotide variant |
Spastic paraplegia [RCV001487972] |
Chr13:23330184 [GRCh38]
Chr13:23904323 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3951A>G (p.Leu1317=) |
single nucleotide variant |
Spastic paraplegia [RCV001490999] |
Chr13:23339925 [GRCh38]
Chr13:23914064 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11416C>T (p.Leu3806=) |
single nucleotide variant |
Spastic paraplegia [RCV001496508] |
Chr13:23332460 [GRCh38]
Chr13:23906599 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.372T>G (p.Ala124=) |
single nucleotide variant |
Spastic paraplegia [RCV001506407] |
Chr13:23365251 [GRCh38]
Chr13:23939390 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2112T>C (p.Leu704=) |
single nucleotide variant |
Spastic paraplegia [RCV001425470] |
Chr13:23353858 [GRCh38]
Chr13:23927997 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1521T>G (p.Thr507=) |
single nucleotide variant |
Spastic paraplegia [RCV001461622] |
Chr13:23355091 [GRCh38]
Chr13:23929230 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5364C>T (p.Asp1788=) |
single nucleotide variant |
Spastic paraplegia [RCV001465046] |
Chr13:23338512 [GRCh38]
Chr13:23912651 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.813C>T (p.Phe271=) |
single nucleotide variant |
Spastic paraplegia [RCV001484902] |
Chr13:23355799 [GRCh38]
Chr13:23929938 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4920T>C (p.Asn1640=) |
single nucleotide variant |
Spastic paraplegia [RCV001467645] |
Chr13:23338956 [GRCh38]
Chr13:23913095 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.57C>T (p.Gly19=) |
single nucleotide variant |
Spastic paraplegia [RCV001480204] |
Chr13:23375233 [GRCh38]
Chr13:23949372 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7281A>C (p.Ile2427=) |
single nucleotide variant |
Spastic paraplegia [RCV001465943] |
Chr13:23336595 [GRCh38]
Chr13:23910734 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12G>A (p.Lys4=) |
single nucleotide variant |
Spastic paraplegia [RCV001466021] |
Chr13:23411228 [GRCh38]
Chr13:23985367 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13735G>A (p.Val4579Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002555540]|Spastic paraplegia [RCV001436682] |
Chr13:23330141 [GRCh38]
Chr13:23904280 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12921A>G (p.Leu4307=) |
single nucleotide variant |
Spastic paraplegia [RCV001461875] |
Chr13:23330955 [GRCh38]
Chr13:23905094 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7485A>G (p.Lys2495=) |
single nucleotide variant |
Spastic paraplegia [RCV001462556] |
Chr13:23336391 [GRCh38]
Chr13:23910530 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3294C>T (p.Leu1098=) |
single nucleotide variant |
Spastic paraplegia [RCV001467725] |
Chr13:23340582 [GRCh38]
Chr13:23914721 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7692G>A (p.Val2564=) |
single nucleotide variant |
Spastic paraplegia [RCV001491322] |
Chr13:23336184 [GRCh38]
Chr13:23910323 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10284A>G (p.Thr3428=) |
single nucleotide variant |
Spastic paraplegia [RCV001474187] |
Chr13:23333592 [GRCh38]
Chr13:23907731 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6186T>C (p.Phe2062=) |
single nucleotide variant |
Spastic paraplegia [RCV001492742] |
Chr13:23337690 [GRCh38]
Chr13:23911829 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5415A>G (p.Ser1805=) |
single nucleotide variant |
Spastic paraplegia [RCV001492744] |
Chr13:23338461 [GRCh38]
Chr13:23912600 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10179C>T (p.Cys3393=) |
single nucleotide variant |
Spastic paraplegia [RCV001492760] |
Chr13:23333697 [GRCh38]
Chr13:23907836 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12333C>T (p.Asp4111=) |
single nucleotide variant |
Spastic paraplegia [RCV001500413] |
Chr13:23331543 [GRCh38]
Chr13:23905682 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9618A>G (p.Ala3206=) |
single nucleotide variant |
Spastic paraplegia [RCV001439290] |
Chr13:23334258 [GRCh38]
Chr13:23908397 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9762T>A (p.Ser3254=) |
single nucleotide variant |
Spastic paraplegia [RCV001462750] |
Chr13:23334114 [GRCh38]
Chr13:23908253 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5625T>C (p.Pro1875=) |
single nucleotide variant |
Spastic paraplegia [RCV001502958] |
Chr13:23338251 [GRCh38]
Chr13:23912390 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1533T>C (p.Asp511=) |
single nucleotide variant |
Spastic paraplegia [RCV001488795] |
Chr13:23355079 [GRCh38]
Chr13:23929218 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11619A>G (p.Glu3873=) |
single nucleotide variant |
Spastic paraplegia [RCV001492798] |
Chr13:23332257 [GRCh38]
Chr13:23906396 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+10A>G |
single nucleotide variant |
Spastic paraplegia [RCV001492826] |
Chr13:23368392 [GRCh38]
Chr13:23942531 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12507T>C (p.Leu4169=) |
single nucleotide variant |
Spastic paraplegia [RCV001452434] |
Chr13:23331369 [GRCh38]
Chr13:23905508 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1731C>G (p.Phe577Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001466352] |
Chr13:23354881 [GRCh38]
Chr13:23929020 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12747G>A (p.Glu4249=) |
single nucleotide variant |
Spastic paraplegia [RCV001483618] |
Chr13:23331129 [GRCh38]
Chr13:23905268 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5488C>T (p.Leu1830=) |
single nucleotide variant |
Spastic paraplegia [RCV001506883] |
Chr13:23338388 [GRCh38]
Chr13:23912527 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12536del (p.Gly4179fs) |
deletion |
Spastic paraplegia [RCV001381067] |
Chr13:23331340 [GRCh38]
Chr13:23905479 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9531T>C (p.Tyr3177=) |
single nucleotide variant |
Spastic paraplegia [RCV001403222] |
Chr13:23334345 [GRCh38]
Chr13:23908484 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.573A>G (p.Gly191=) |
single nucleotide variant |
Spastic paraplegia [RCV001439607] |
Chr13:23358366 [GRCh38]
Chr13:23932505 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7272C>T (p.Cys2424=) |
single nucleotide variant |
Spastic paraplegia [RCV001439618] |
Chr13:23336604 [GRCh38]
Chr13:23910743 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.56del (p.Gly19fs) |
deletion |
Spastic paraplegia [RCV001390501] |
Chr13:23375234 [GRCh38]
Chr13:23949373 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1755A>G (p.Glu585=) |
single nucleotide variant |
Spastic paraplegia [RCV001468141] |
Chr13:23354857 [GRCh38]
Chr13:23928996 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11991T>C (p.Ser3997=) |
single nucleotide variant |
Spastic paraplegia [RCV001471810] |
Chr13:23331885 [GRCh38]
Chr13:23906024 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3513G>A (p.Leu1171=) |
single nucleotide variant |
Spastic paraplegia [RCV001452726] |
Chr13:23340363 [GRCh38]
Chr13:23914502 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7713A>G (p.Pro2571=) |
single nucleotide variant |
Spastic paraplegia [RCV001466621] |
Chr13:23336163 [GRCh38]
Chr13:23910302 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9246T>C (p.Cys3082=) |
single nucleotide variant |
Spastic paraplegia [RCV001497461] |
Chr13:23334630 [GRCh38]
Chr13:23908769 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2361T>C (p.Tyr787=) |
single nucleotide variant |
Spastic paraplegia [RCV001434151] |
Chr13:23341515 [GRCh38]
Chr13:23915654 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.825T>A (p.Leu275=) |
single nucleotide variant |
Spastic paraplegia [RCV001434245] |
Chr13:23355787 [GRCh38]
Chr13:23929926 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002469390]|Spastic paraplegia [RCV001383518] |
Chr13:23332740 [GRCh38]
Chr13:23906879 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.13092A>G (p.Lys4364=) |
single nucleotide variant |
Spastic paraplegia [RCV001455861] |
Chr13:23330784 [GRCh38]
Chr13:23904923 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13014T>C (p.Pro4338=) |
single nucleotide variant |
Spastic paraplegia [RCV001471980] |
Chr13:23330862 [GRCh38]
Chr13:23905001 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9258A>G (p.Ala3086=) |
single nucleotide variant |
Spastic paraplegia [RCV001453141] |
Chr13:23334618 [GRCh38]
Chr13:23908757 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13569T>C (p.Val4523=) |
single nucleotide variant |
Spastic paraplegia [RCV001501193] |
Chr13:23330307 [GRCh38]
Chr13:23904446 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10881C>T (p.Ile3627=) |
single nucleotide variant |
Spastic paraplegia [RCV001486871] |
Chr13:23332995 [GRCh38]
Chr13:23907134 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12833C>T (p.Pro4278Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001397869] |
Chr13:23331043 [GRCh38]
Chr13:23905182 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1005G>C (p.Ser335=) |
single nucleotide variant |
Spastic paraplegia [RCV001434449] |
Chr13:23355607 [GRCh38]
Chr13:23929746 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5970C>T (p.Asn1990=) |
single nucleotide variant |
Spastic paraplegia [RCV001434472] |
Chr13:23337906 [GRCh38]
Chr13:23912045 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4413C>T (p.Tyr1471=) |
single nucleotide variant |
Spastic paraplegia [RCV001480523] |
Chr13:23339463 [GRCh38]
Chr13:23913602 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13164G>A (p.Gln4388=) |
single nucleotide variant |
Spastic paraplegia [RCV001503561] |
Chr13:23330712 [GRCh38]
Chr13:23904851 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6165G>A (p.Gln2055=) |
single nucleotide variant |
Spastic paraplegia [RCV001475796] |
Chr13:23337711 [GRCh38]
Chr13:23911850 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3771A>T (p.Gly1257=) |
single nucleotide variant |
Spastic paraplegia [RCV001453257] |
Chr13:23340105 [GRCh38]
Chr13:23914244 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2094-9C>T |
single nucleotide variant |
Spastic paraplegia [RCV001401000] |
Chr13:23353885 [GRCh38]
Chr13:23928024 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8949T>C (p.Asn2983=) |
single nucleotide variant |
Spastic paraplegia [RCV001401147] |
Chr13:23334927 [GRCh38]
Chr13:23909066 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9276T>C (p.Tyr3092=) |
single nucleotide variant |
Spastic paraplegia [RCV001406103] |
Chr13:23334600 [GRCh38]
Chr13:23908739 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2578C>T (p.Gln860Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001390906] |
Chr13:23341298 [GRCh38]
Chr13:23915437 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10443C>T (p.Leu3481=) |
single nucleotide variant |
Spastic paraplegia [RCV001423736] |
Chr13:23333433 [GRCh38]
Chr13:23907572 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10656T>C (p.Leu3552=) |
single nucleotide variant |
Spastic paraplegia [RCV001500844] |
Chr13:23333220 [GRCh38]
Chr13:23907359 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12039A>C (p.Thr4013=) |
single nucleotide variant |
Spastic paraplegia [RCV001483597] |
Chr13:23331837 [GRCh38]
Chr13:23905976 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3186G>A (p.Lys1062=) |
single nucleotide variant |
Spastic paraplegia [RCV001506071] |
Chr13:23340690 [GRCh38]
Chr13:23914829 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.321T>C (p.Tyr107=) |
single nucleotide variant |
Spastic paraplegia [RCV001472320] |
Chr13:23368426 [GRCh38]
Chr13:23942565 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2139G>A (p.Leu713=) |
single nucleotide variant |
Spastic paraplegia [RCV001493130] |
Chr13:23353831 [GRCh38]
Chr13:23927970 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6714C>T (p.Thr2238=) |
single nucleotide variant |
Spastic paraplegia [RCV001478030] |
Chr13:23337162 [GRCh38]
Chr13:23911301 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7902C>T (p.Asp2634=) |
single nucleotide variant |
Spastic paraplegia [RCV001504681] |
Chr13:23335974 [GRCh38]
Chr13:23910113 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.774G>A (p.Lys258=) |
single nucleotide variant |
Spastic paraplegia [RCV001470407] |
Chr13:23355838 [GRCh38]
Chr13:23929977 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11376A>G (p.Arg3792=) |
single nucleotide variant |
Spastic paraplegia [RCV001470652] |
Chr13:23332500 [GRCh38]
Chr13:23906639 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12927A>G (p.Glu4309=) |
single nucleotide variant |
Spastic paraplegia [RCV001487955] |
Chr13:23330949 [GRCh38]
Chr13:23905088 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8004A>G (p.Arg2668=) |
single nucleotide variant |
Spastic paraplegia [RCV001401212] |
Chr13:23335872 [GRCh38]
Chr13:23910011 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.199C>T (p.Leu67=) |
single nucleotide variant |
Spastic paraplegia [RCV001401214] |
Chr13:23371138 [GRCh38]
Chr13:23945277 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6696C>T (p.Asn2232=) |
single nucleotide variant |
Spastic paraplegia [RCV001427112] |
Chr13:23337180 [GRCh38]
Chr13:23911319 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1227T>C (p.Ser409=) |
single nucleotide variant |
Spastic paraplegia [RCV001501298] |
Chr13:23355385 [GRCh38]
Chr13:23929524 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2661A>G (p.Lys887=) |
single nucleotide variant |
Spastic paraplegia [RCV001472554] |
Chr13:23341215 [GRCh38]
Chr13:23915354 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1107C>T (p.Thr369=) |
single nucleotide variant |
Spastic paraplegia [RCV001492007] |
Chr13:23355505 [GRCh38]
Chr13:23929644 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10125A>G (p.Arg3375=) |
single nucleotide variant |
Spastic paraplegia [RCV001493435] |
Chr13:23333751 [GRCh38]
Chr13:23907890 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1428C>T (p.Ser476=) |
single nucleotide variant |
Spastic paraplegia [RCV001461203] |
Chr13:23355184 [GRCh38]
Chr13:23929323 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4440A>G (p.Glu1480=) |
single nucleotide variant |
Spastic paraplegia [RCV001457132] |
Chr13:23339436 [GRCh38]
Chr13:23913575 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1641G>A (p.Pro547=) |
single nucleotide variant |
Spastic paraplegia [RCV001464490] |
Chr13:23354971 [GRCh38]
Chr13:23929110 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9778G>C (p.Asp3260His) |
single nucleotide variant |
Spastic paraplegia [RCV001485049] |
Chr13:23334098 [GRCh38]
Chr13:23908237 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2093+10C>T |
single nucleotide variant |
Spastic paraplegia [RCV001416337] |
Chr13:23354509 [GRCh38]
Chr13:23928648 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2185+9G>A |
single nucleotide variant |
Spastic paraplegia [RCV001393744] |
Chr13:23353776 [GRCh38]
Chr13:23927915 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7962T>C (p.Tyr2654=) |
single nucleotide variant |
Spastic paraplegia [RCV001437996] |
Chr13:23335914 [GRCh38]
Chr13:23910053 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2490T>C (p.Asp830=) |
single nucleotide variant |
Spastic paraplegia [RCV001435196] |
Chr13:23341386 [GRCh38]
Chr13:23915525 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4401T>C (p.Ile1467=) |
single nucleotide variant |
Spastic paraplegia [RCV001456654] |
Chr13:23339475 [GRCh38]
Chr13:23913614 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13248C>T (p.Asn4416=) |
single nucleotide variant |
Spastic paraplegia [RCV001486387] |
Chr13:23330628 [GRCh38]
Chr13:23904767 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1528T>C (p.Leu510=) |
single nucleotide variant |
Spastic paraplegia [RCV001492085] |
Chr13:23355084 [GRCh38]
Chr13:23929223 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10042T>C (p.Leu3348=) |
single nucleotide variant |
Spastic paraplegia [RCV001493618] |
Chr13:23333834 [GRCh38]
Chr13:23907973 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11373G>A (p.Leu3791=) |
single nucleotide variant |
Spastic paraplegia [RCV001488816] |
Chr13:23332503 [GRCh38]
Chr13:23906642 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile) |
single nucleotide variant |
Spastic paraplegia [RCV001427335] |
Chr13:23333017 [GRCh38]
Chr13:23907156 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6954T>C (p.Ala2318=) |
single nucleotide variant |
Spastic paraplegia [RCV001419572] |
Chr13:23336922 [GRCh38]
Chr13:23911061 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6453A>G (p.Leu2151=) |
single nucleotide variant |
Spastic paraplegia [RCV001404370] |
Chr13:23337423 [GRCh38]
Chr13:23911562 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11604A>G (p.Gln3868=) |
single nucleotide variant |
Spastic paraplegia [RCV001460385] |
Chr13:23332272 [GRCh38]
Chr13:23906411 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6750T>C (p.His2250=) |
single nucleotide variant |
Spastic paraplegia [RCV001426156] |
Chr13:23337126 [GRCh38]
Chr13:23911265 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.510C>T (p.His170=) |
single nucleotide variant |
SACS-related condition [RCV003955976]|Spastic paraplegia [RCV001448439]|not provided [RCV003399235] |
Chr13:23358429 [GRCh38]
Chr13:23932568 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro) |
single nucleotide variant |
Spastic paraplegia [RCV001377958] |
Chr13:23335958 [GRCh38]
Chr13:23910097 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV002250908] |
Chr13:23338838..23338839 [GRCh38]
Chr13:23912977..23912978 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780384]|Spastic paraplegia [RCV001448702]|not provided [RCV001507818] |
Chr13:23335540 [GRCh38]
Chr13:23909679 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7950T>C (p.Pro2650=) |
single nucleotide variant |
Spastic paraplegia [RCV001443771] |
Chr13:23335926 [GRCh38]
Chr13:23910065 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7242G>A (p.Lys2414=) |
single nucleotide variant |
Spastic paraplegia [RCV001435642] |
Chr13:23336634 [GRCh38]
Chr13:23910773 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2085A>G (p.Glu695=) |
single nucleotide variant |
Spastic paraplegia [RCV001427761] |
Chr13:23354527 [GRCh38]
Chr13:23928666 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12004T>C (p.Leu4002=) |
single nucleotide variant |
Spastic paraplegia [RCV001430144] |
Chr13:23331872 [GRCh38]
Chr13:23906011 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8409C>T (p.Thr2803=) |
single nucleotide variant |
Spastic paraplegia [RCV001440955] |
Chr13:23335467 [GRCh38]
Chr13:23909606 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.76C>T (p.Leu26=) |
single nucleotide variant |
Spastic paraplegia [RCV001412041] |
Chr13:23375214 [GRCh38]
Chr13:23949353 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12867T>C (p.Ser4289=) |
single nucleotide variant |
Spastic paraplegia [RCV001441393] |
Chr13:23331009 [GRCh38]
Chr13:23905148 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.20+9G>A |
single nucleotide variant |
Spastic paraplegia [RCV001400919] |
Chr13:23411211 [GRCh38]
Chr13:23985350 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9372T>A (p.Thr3124=) |
single nucleotide variant |
Spastic paraplegia [RCV001427930] |
Chr13:23334504 [GRCh38]
Chr13:23908643 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13419G>A (p.Val4473=) |
single nucleotide variant |
Spastic paraplegia [RCV001448944] |
Chr13:23330457 [GRCh38]
Chr13:23904596 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1083A>G (p.Lys361=) |
single nucleotide variant |
Spastic paraplegia [RCV001425402] |
Chr13:23355529 [GRCh38]
Chr13:23929668 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.378G>T (p.Ala126=) |
single nucleotide variant |
Spastic paraplegia [RCV001426558] |
Chr13:23365245 [GRCh38]
Chr13:23939384 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11697C>T (p.Leu3899=) |
single nucleotide variant |
Spastic paraplegia [RCV001402304] |
Chr13:23332179 [GRCh38]
Chr13:23906318 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8451G>C (p.Thr2817=) |
single nucleotide variant |
Spastic paraplegia [RCV001402323] |
Chr13:23335425 [GRCh38]
Chr13:23909564 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.147G>A (p.Gln49=) |
single nucleotide variant |
Spastic paraplegia [RCV001430414] |
Chr13:23375143 [GRCh38]
Chr13:23949282 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1797G>A (p.Lys599=) |
single nucleotide variant |
Spastic paraplegia [RCV001443881] |
Chr13:23354815 [GRCh38]
Chr13:23928954 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.378G>A (p.Ala126=) |
single nucleotide variant |
Spastic paraplegia [RCV001443898] |
Chr13:23365245 [GRCh38]
Chr13:23939384 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4668T>C (p.Phe1556=) |
single nucleotide variant |
Spastic paraplegia [RCV001446474] |
Chr13:23339208 [GRCh38]
Chr13:23913347 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4926C>G (p.Thr1642=) |
single nucleotide variant |
Spastic paraplegia [RCV001449098] |
Chr13:23338950 [GRCh38]
Chr13:23913089 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6928C>T (p.Leu2310=) |
single nucleotide variant |
Spastic paraplegia [RCV001400165] |
Chr13:23336948 [GRCh38]
Chr13:23911087 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2186-8A>G |
single nucleotide variant |
Spastic paraplegia [RCV001438880] |
Chr13:23341698 [GRCh38]
Chr13:23915837 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6495A>G (p.Glu2165=) |
single nucleotide variant |
Spastic paraplegia [RCV001405200] |
Chr13:23337381 [GRCh38]
Chr13:23911520 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8505T>C (p.Ser2835=) |
single nucleotide variant |
Spastic paraplegia [RCV001434184] |
Chr13:23335371 [GRCh38]
Chr13:23909510 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5745T>C (p.His1915=) |
single nucleotide variant |
Spastic paraplegia [RCV001430553] |
Chr13:23338131 [GRCh38]
Chr13:23912270 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4749A>G (p.Pro1583=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847262]|Spastic paraplegia [RCV001404982] |
Chr13:23339127 [GRCh38]
Chr13:23913266 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12882C>T (p.Ser4294=) |
single nucleotide variant |
Spastic paraplegia [RCV001407429] |
Chr13:23330994 [GRCh38]
Chr13:23905133 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.921G>A (p.Leu307=) |
single nucleotide variant |
Spastic paraplegia [RCV001444108]|not provided [RCV003399232] |
Chr13:23355691 [GRCh38]
Chr13:23929830 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9108A>G (p.Gln3036=) |
single nucleotide variant |
Spastic paraplegia [RCV001449247] |
Chr13:23334768 [GRCh38]
Chr13:23908907 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.993T>C (p.Phe331=) |
single nucleotide variant |
Spastic paraplegia [RCV001436874] |
Chr13:23355619 [GRCh38]
Chr13:23929758 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1752del (p.Glu585fs) |
deletion |
Spastic paraplegia [RCV001380838] |
Chr13:23354860 [GRCh38]
Chr13:23928999 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2064C>T (p.Val688=) |
single nucleotide variant |
Spastic paraplegia [RCV001405348] |
Chr13:23354548 [GRCh38]
Chr13:23928687 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.771C>T (p.Thr257=) |
single nucleotide variant |
Spastic paraplegia [RCV001431011] |
Chr13:23355841 [GRCh38]
Chr13:23929980 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10968T>C (p.Pro3656=) |
single nucleotide variant |
Spastic paraplegia [RCV001439960] |
Chr13:23332908 [GRCh38]
Chr13:23907047 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6921A>G (p.Gly2307=) |
single nucleotide variant |
Spastic paraplegia [RCV001430674] |
Chr13:23336955 [GRCh38]
Chr13:23911094 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5304C>T (p.His1768=) |
single nucleotide variant |
Spastic paraplegia [RCV001441588] |
Chr13:23338572 [GRCh38]
Chr13:23912711 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4539G>A (p.Gly1513=) |
single nucleotide variant |
Spastic paraplegia [RCV001441593] |
Chr13:23339337 [GRCh38]
Chr13:23913476 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9417T>C (p.Cys3139=) |
single nucleotide variant |
Spastic paraplegia [RCV001407591] |
Chr13:23334459 [GRCh38]
Chr13:23908598 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4578C>T (p.Asn1526=) |
single nucleotide variant |
Spastic paraplegia [RCV001444257] |
Chr13:23339298 [GRCh38]
Chr13:23913437 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2770T>C (p.Leu924=) |
single nucleotide variant |
Spastic paraplegia [RCV001410191] |
Chr13:23341106 [GRCh38]
Chr13:23915245 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9114T>A (p.Leu3038=) |
single nucleotide variant |
Spastic paraplegia [RCV001410227] |
Chr13:23334762 [GRCh38]
Chr13:23908901 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11385T>G (p.Ala3795=) |
single nucleotide variant |
Spastic paraplegia [RCV001446911] |
Chr13:23332491 [GRCh38]
Chr13:23906630 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13500A>G (p.Val4500=) |
single nucleotide variant |
Spastic paraplegia [RCV001449439] |
Chr13:23330376 [GRCh38]
Chr13:23904515 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2691A>G (p.Pro897=) |
single nucleotide variant |
Spastic paraplegia [RCV001449454] |
Chr13:23341185 [GRCh38]
Chr13:23915324 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10479A>G (p.Lys3493=) |
single nucleotide variant |
Spastic paraplegia [RCV001405441] |
Chr13:23333397 [GRCh38]
Chr13:23907536 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12603C>T (p.Tyr4201=) |
single nucleotide variant |
Spastic paraplegia [RCV001441983] |
Chr13:23331273 [GRCh38]
Chr13:23905412 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5526A>G (p.Gly1842=) |
single nucleotide variant |
Spastic paraplegia [RCV001444474] |
Chr13:23338350 [GRCh38]
Chr13:23912489 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2964C>G (p.Thr988=) |
single nucleotide variant |
Spastic paraplegia [RCV001407939] |
Chr13:23340912 [GRCh38]
Chr13:23915051 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.346-5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002560317]|Spastic paraplegia [RCV001444580] |
Chr13:23365282 [GRCh38]
Chr13:23939421 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4611C>T (p.Asn1537=) |
single nucleotide variant |
Spastic paraplegia [RCV001417460] |
Chr13:23339265 [GRCh38]
Chr13:23913404 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2974T>C (p.Leu992=) |
single nucleotide variant |
Spastic paraplegia [RCV001405309] |
Chr13:23340902 [GRCh38]
Chr13:23915041 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6728C>T (p.Thr2243Ile) |
single nucleotide variant |
Spastic paraplegia [RCV001410282] |
Chr13:23337148 [GRCh38]
Chr13:23911287 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5505T>C (p.Ser1835=) |
single nucleotide variant |
Spastic paraplegia [RCV001418478] |
Chr13:23338371 [GRCh38]
Chr13:23912510 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11655C>T (p.Phe3885=) |
single nucleotide variant |
Spastic paraplegia [RCV001400743] |
Chr13:23332221 [GRCh38]
Chr13:23906360 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9765A>G (p.Val3255=) |
single nucleotide variant |
Spastic paraplegia [RCV001447263] |
Chr13:23334111 [GRCh38]
Chr13:23908250 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9093A>G (p.Leu3031=) |
single nucleotide variant |
Spastic paraplegia [RCV001410635] |
Chr13:23334783 [GRCh38]
Chr13:23908922 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9885T>A (p.Val3295=) |
single nucleotide variant |
Spastic paraplegia [RCV001410654] |
Chr13:23333991 [GRCh38]
Chr13:23908130 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8409C>G (p.Thr2803=) |
single nucleotide variant |
Spastic paraplegia [RCV001399861] |
Chr13:23335467 [GRCh38]
Chr13:23909606 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13064del (p.Leu4355fs) |
deletion |
Spastic paraplegia [RCV001386614] |
Chr13:23330812 [GRCh38]
Chr13:23904951 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5679A>G (p.Thr1893=) |
single nucleotide variant |
Spastic paraplegia [RCV001447262] |
Chr13:23338197 [GRCh38]
Chr13:23912336 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13191C>T (p.Phe4397=) |
single nucleotide variant |
Spastic paraplegia [RCV001397785] |
Chr13:23330685 [GRCh38]
Chr13:23904824 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10671dup (p.Ile3558fs) |
duplication |
Spastic paraplegia [RCV001390548] |
Chr13:23333204..23333205 [GRCh38]
Chr13:23907343..23907344 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8634G>C (p.Gly2878=) |
single nucleotide variant |
Spastic paraplegia [RCV001444753] |
Chr13:23335242 [GRCh38]
Chr13:23909381 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.492C>T (p.Phe164=) |
single nucleotide variant |
Spastic paraplegia [RCV001408246] |
Chr13:23358447 [GRCh38]
Chr13:23932586 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4452C>T (p.Asn1484=) |
single nucleotide variant |
Spastic paraplegia [RCV001444777] |
Chr13:23339424 [GRCh38]
Chr13:23913563 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12909A>G (p.Leu4303=) |
single nucleotide variant |
Spastic paraplegia [RCV001444843] |
Chr13:23330967 [GRCh38]
Chr13:23905106 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6889T>C (p.Leu2297=) |
single nucleotide variant |
Spastic paraplegia [RCV001410766] |
Chr13:23336987 [GRCh38]
Chr13:23911126 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.105G>A (p.Lys35=) |
single nucleotide variant |
Spastic paraplegia [RCV001417616] |
Chr13:23375185 [GRCh38]
Chr13:23949324 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.744A>C (p.Ala248=) |
single nucleotide variant |
Spastic paraplegia [RCV001425411] |
Chr13:23355868 [GRCh38]
Chr13:23930007 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1613C>T (p.Ala538Val) |
single nucleotide variant |
Spastic paraplegia [RCV001419215]|not provided [RCV002261360] |
Chr13:23354999 [GRCh38]
Chr13:23929138 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3094G>T (p.Glu1032Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001381695] |
Chr13:23340782 [GRCh38]
Chr13:23914921 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.939G>A (p.Val313=) |
single nucleotide variant |
Spastic paraplegia [RCV001442009] |
Chr13:23355673 [GRCh38]
Chr13:23929812 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003160779]|Spastic paraplegia [RCV001442078]|not provided [RCV003405668] |
Chr13:23333167 [GRCh38]
Chr13:23907306 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8883G>A (p.Ser2961=) |
single nucleotide variant |
Spastic paraplegia [RCV001408198] |
Chr13:23334993 [GRCh38]
Chr13:23909132 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1977C>G (p.Ala659=) |
single nucleotide variant |
Spastic paraplegia [RCV001410665] |
Chr13:23354635 [GRCh38]
Chr13:23928774 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9654A>G (p.Leu3218=) |
single nucleotide variant |
Spastic paraplegia [RCV001444963] |
Chr13:23334222 [GRCh38]
Chr13:23908361 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4929T>C (p.Leu1643=) |
single nucleotide variant |
Spastic paraplegia [RCV001447572] |
Chr13:23338947 [GRCh38]
Chr13:23913086 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.927T>C (p.Phe309=) |
single nucleotide variant |
Spastic paraplegia [RCV001410858] |
Chr13:23355685 [GRCh38]
Chr13:23929824 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5070A>G (p.Val1690=) |
single nucleotide variant |
Spastic paraplegia [RCV001447613] |
Chr13:23338806 [GRCh38]
Chr13:23912945 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12099A>G (p.Lys4033=) |
single nucleotide variant |
Spastic paraplegia [RCV001393390] |
Chr13:23331777 [GRCh38]
Chr13:23905916 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12195T>C (p.Ile4065=) |
single nucleotide variant |
Spastic paraplegia [RCV001401291] |
Chr13:23331681 [GRCh38]
Chr13:23905820 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1032G>A (p.Glu344=) |
single nucleotide variant |
Spastic paraplegia [RCV001447740] |
Chr13:23355580 [GRCh38]
Chr13:23929719 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1783C>T (p.Gln595Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003750864]|not provided [RCV001543457] |
Chr13:23354829 [GRCh38]
Chr13:23928968 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11037T>C (p.Leu3679=) |
single nucleotide variant |
Spastic paraplegia [RCV001428262] |
Chr13:23332839 [GRCh38]
Chr13:23906978 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12744T>C (p.Pro4248=) |
single nucleotide variant |
Spastic paraplegia [RCV001447884] |
Chr13:23331132 [GRCh38]
Chr13:23905271 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7275A>G (p.Arg2425=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847265]|Spastic paraplegia [RCV001411225] |
Chr13:23336601 [GRCh38]
Chr13:23910740 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3531C>T (p.Leu1177=) |
single nucleotide variant |
Spastic paraplegia [RCV001393745] |
Chr13:23340345 [GRCh38]
Chr13:23914484 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1014dup (p.Lys339Ter) |
duplication |
Spastic paraplegia [RCV001385563] |
Chr13:23355597..23355598 [GRCh38]
Chr13:23929736..23929737 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5796_5809del (p.Thr1933fs) |
deletion |
Spastic paraplegia [RCV001385609] |
Chr13:23338067..23338080 [GRCh38]
Chr13:23912206..23912219 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11310A>G (p.Ala3770=) |
single nucleotide variant |
Spastic paraplegia [RCV001419492] |
Chr13:23332566 [GRCh38]
Chr13:23906705 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11316C>T (p.Val3772=) |
single nucleotide variant |
SACS-related condition [RCV003953732]|Spastic paraplegia [RCV001402658] |
Chr13:23332560 [GRCh38]
Chr13:23906699 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10233G>T (p.Pro3411=) |
single nucleotide variant |
Spastic paraplegia [RCV001406030] |
Chr13:23333643 [GRCh38]
Chr13:23907782 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11079A>G (p.Gln3693=) |
single nucleotide variant |
Spastic paraplegia [RCV001427175] |
Chr13:23332797 [GRCh38]
Chr13:23906936 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11475G>A (p.Leu3825=) |
single nucleotide variant |
Spastic paraplegia [RCV001406351] |
Chr13:23332401 [GRCh38]
Chr13:23906540 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7056A>C (p.Ala2352=) |
single nucleotide variant |
Spastic paraplegia [RCV001445504] |
Chr13:23336820 [GRCh38]
Chr13:23910959 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.605-7T>C |
single nucleotide variant |
Spastic paraplegia [RCV001411321] |
Chr13:23356014 [GRCh38]
Chr13:23930153 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.552T>G (p.Pro184=) |
single nucleotide variant |
Spastic paraplegia [RCV001411421] |
Chr13:23358387 [GRCh38]
Chr13:23932526 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10755C>T (p.Phe3585=) |
single nucleotide variant |
Spastic paraplegia [RCV001402735] |
Chr13:23333121 [GRCh38]
Chr13:23907260 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7989C>G (p.Pro2663=) |
single nucleotide variant |
Spastic paraplegia [RCV001428415] |
Chr13:23335887 [GRCh38]
Chr13:23910026 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11748G>A (p.Leu3916=) |
single nucleotide variant |
Spastic paraplegia [RCV001428417] |
Chr13:23332128 [GRCh38]
Chr13:23906267 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11109del (p.Cys3704fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003469668]|Spastic paraplegia [RCV001381975] |
Chr13:23332767 [GRCh38]
Chr13:23906906 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.13614C>T (p.Tyr4538=) |
single nucleotide variant |
Spastic paraplegia [RCV001445350] |
Chr13:23330262 [GRCh38]
Chr13:23904401 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9771G>A (p.Val3257=) |
single nucleotide variant |
Spastic paraplegia [RCV001427277] |
Chr13:23334105 [GRCh38]
Chr13:23908244 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6057T>C (p.Thr2019=) |
single nucleotide variant |
Spastic paraplegia [RCV001419541] |
Chr13:23337819 [GRCh38]
Chr13:23911958 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7134T>C (p.Tyr2378=) |
single nucleotide variant |
Spastic paraplegia [RCV001404078] |
Chr13:23336742 [GRCh38]
Chr13:23910881 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3975G>A (p.Glu1325=) |
single nucleotide variant |
Spastic paraplegia [RCV001448305] |
Chr13:23339901 [GRCh38]
Chr13:23914040 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9024T>G (p.Ser3008=) |
single nucleotide variant |
Spastic paraplegia [RCV001425891] |
Chr13:23334852 [GRCh38]
Chr13:23908991 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4296A>G (p.Glu1432=) |
single nucleotide variant |
Spastic paraplegia [RCV001419606] |
Chr13:23339580 [GRCh38]
Chr13:23913719 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11606T>A (p.Leu3869Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001380877] |
Chr13:23332270 [GRCh38]
Chr13:23906409 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6402T>A (p.Gly2134=) |
single nucleotide variant |
Spastic paraplegia [RCV001402931] |
Chr13:23337474 [GRCh38]
Chr13:23911613 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7761A>G (p.Ala2587=) |
single nucleotide variant |
Spastic paraplegia [RCV001406284] |
Chr13:23336115 [GRCh38]
Chr13:23910254 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12114C>T (p.Cys4038=) |
single nucleotide variant |
Spastic paraplegia [RCV001442982] |
Chr13:23331762 [GRCh38]
Chr13:23905901 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10981G>A (p.Ala3661Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001442995] |
Chr13:23332895 [GRCh38]
Chr13:23907034 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10254C>T (p.Gly3418=) |
single nucleotide variant |
Spastic paraplegia [RCV001448093] |
Chr13:23333622 [GRCh38]
Chr13:23907761 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7650T>G (p.Leu2550=) |
single nucleotide variant |
Spastic paraplegia [RCV001427481] |
Chr13:23336226 [GRCh38]
Chr13:23910365 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10797G>A (p.Gln3599=) |
single nucleotide variant |
Spastic paraplegia [RCV001438295] |
Chr13:23333079 [GRCh38]
Chr13:23907218 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11674dup (p.Ser3892fs) |
duplication |
Spastic paraplegia [RCV001381999] |
Chr13:23332201..23332202 [GRCh38]
Chr13:23906340..23906341 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003399200]|Spastic paraplegia [RCV001382083] |
Chr13:23331770 [GRCh38]
Chr13:23905909 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9534T>C (p.His3178=) |
single nucleotide variant |
Spastic paraplegia [RCV001432269] |
Chr13:23334342 [GRCh38]
Chr13:23908481 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1920C>T (p.His640=) |
single nucleotide variant |
Spastic paraplegia [RCV001409226] |
Chr13:23354692 [GRCh38]
Chr13:23928831 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12219T>C (p.Phe4073=) |
single nucleotide variant |
Spastic paraplegia [RCV001448454] |
Chr13:23331657 [GRCh38]
Chr13:23905796 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5972dup (p.Arg1992fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV001535819] |
Chr13:23337903..23337904 [GRCh38]
Chr13:23912042..23912043 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5091C>T (p.Tyr1697=) |
single nucleotide variant |
Spastic paraplegia [RCV001425936] |
Chr13:23338785 [GRCh38]
Chr13:23912924 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8142G>T (p.Ser2714=) |
single nucleotide variant |
Spastic paraplegia [RCV001403022] |
Chr13:23335734 [GRCh38]
Chr13:23909873 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1769_1770del (p.Val590fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV001849514]|Spastic paraplegia [RCV001389169] |
Chr13:23354842..23354843 [GRCh38]
Chr13:23928981..23928982 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11565A>G (p.Glu3855=) |
single nucleotide variant |
Spastic paraplegia [RCV001404341] |
Chr13:23332311 [GRCh38]
Chr13:23906450 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.135G>C (p.Pro45=) |
single nucleotide variant |
Spastic paraplegia [RCV001406473] |
Chr13:23375155 [GRCh38]
Chr13:23949294 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9015C>T (p.Asp3005=) |
single nucleotide variant |
SACS-related condition [RCV003938782]|Spastic paraplegia [RCV001443095] |
Chr13:23334861 [GRCh38]
Chr13:23909000 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.66C>T (p.Thr22=) |
single nucleotide variant |
Spastic paraplegia [RCV001443158] |
Chr13:23375224 [GRCh38]
Chr13:23949363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9405A>G (p.Leu3135=) |
single nucleotide variant |
SACS-related condition [RCV003930878]|Spastic paraplegia [RCV001409050] |
Chr13:23334471 [GRCh38]
Chr13:23908610 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9090A>G (p.Leu3030=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001578943]|Spastic paraplegia [RCV001411635]|not provided [RCV003399222] |
Chr13:23334786 [GRCh38]
Chr13:23908925 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.576T>C (p.Ile192=) |
single nucleotide variant |
Spastic paraplegia [RCV001394212] |
Chr13:23358363 [GRCh38]
Chr13:23932502 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1167A>G (p.Lys389=) |
single nucleotide variant |
Spastic paraplegia [RCV001416940] |
Chr13:23355445 [GRCh38]
Chr13:23929584 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11628A>C (p.Thr3876=) |
single nucleotide variant |
Spastic paraplegia [RCV001440697] |
Chr13:23332248 [GRCh38]
Chr13:23906387 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8169C>T (p.Val2723=) |
single nucleotide variant |
Spastic paraplegia [RCV001409277] |
Chr13:23335707 [GRCh38]
Chr13:23909846 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11598C>A (p.Gly3866=) |
single nucleotide variant |
Spastic paraplegia [RCV001448623] |
Chr13:23332278 [GRCh38]
Chr13:23906417 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9636C>T (p.Ser3212=) |
single nucleotide variant |
Spastic paraplegia [RCV001501694] |
Chr13:23334240 [GRCh38]
Chr13:23908379 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12282A>G (p.Lys4094=) |
single nucleotide variant |
Spastic paraplegia [RCV001501767]|not provided [RCV003399260] |
Chr13:23331594 [GRCh38]
Chr13:23905733 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5277T>C (p.Ile1759=) |
single nucleotide variant |
Spastic paraplegia [RCV001457531] |
Chr13:23338599 [GRCh38]
Chr13:23912738 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10635G>C (p.Val3545=) |
single nucleotide variant |
Spastic paraplegia [RCV001505898] |
Chr13:23333241 [GRCh38]
Chr13:23907380 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10311T>C (p.Pro3437=) |
single nucleotide variant |
Spastic paraplegia [RCV001489954] |
Chr13:23333565 [GRCh38]
Chr13:23907704 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4488G>A (p.Leu1496=) |
single nucleotide variant |
Spastic paraplegia [RCV001493855] |
Chr13:23339388 [GRCh38]
Chr13:23913527 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile) |
single nucleotide variant |
not provided [RCV001507819] |
Chr13:23336057 [GRCh38]
Chr13:23910196 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001780391]|Spastic paraplegia [RCV001481775]|not provided [RCV001508702] |
Chr13:23337905 [GRCh38]
Chr13:23912044 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4614A>T (p.Ile1538=) |
single nucleotide variant |
Spastic paraplegia [RCV001495153] |
Chr13:23339262 [GRCh38]
Chr13:23913401 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10948T>C (p.Leu3650=) |
single nucleotide variant |
Spastic paraplegia [RCV001461689] |
Chr13:23332928 [GRCh38]
Chr13:23907067 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12078T>A (p.Ala4026=) |
single nucleotide variant |
Spastic paraplegia [RCV001479100] |
Chr13:23331798 [GRCh38]
Chr13:23905937 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6759A>C (p.Ile2253=) |
single nucleotide variant |
Spastic paraplegia [RCV001502400] |
Chr13:23337117 [GRCh38]
Chr13:23911256 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10372C>T (p.His3458Tyr) |
single nucleotide variant |
not provided [RCV001532229] |
Chr13:23333504 [GRCh38]
Chr13:23907643 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys) |
single nucleotide variant |
not provided [RCV001508704] |
Chr13:23340824 [GRCh38]
Chr13:23914963 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.726A>G (p.Glu242=) |
single nucleotide variant |
Spastic paraplegia [RCV001461498] |
Chr13:23355886 [GRCh38]
Chr13:23930025 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.-278G>A |
single nucleotide variant |
not provided [RCV001593396] |
Chr13:23411517 [GRCh38]
Chr13:23985656 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10029A>G (p.Ala3343=) |
single nucleotide variant |
Spastic paraplegia [RCV001450917] |
Chr13:23333847 [GRCh38]
Chr13:23907986 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7326A>G (p.Glu2442=) |
single nucleotide variant |
Spastic paraplegia [RCV001461952] |
Chr13:23336550 [GRCh38]
Chr13:23910689 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9610A>G (p.Lys3204Glu) |
single nucleotide variant |
Spastic paraplegia [RCV001458159] |
Chr13:23334266 [GRCh38]
Chr13:23908405 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.72G>A (p.Ala24=) |
single nucleotide variant |
Spastic paraplegia [RCV001462140] |
Chr13:23375218 [GRCh38]
Chr13:23949357 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.984A>G (p.Lys328=) |
single nucleotide variant |
Spastic paraplegia [RCV001454936] |
Chr13:23355628 [GRCh38]
Chr13:23929767 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11559T>C (p.Tyr3853=) |
single nucleotide variant |
Spastic paraplegia [RCV001473588] |
Chr13:23332317 [GRCh38]
Chr13:23906456 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2830T>C (p.Leu944=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832593]|Spastic paraplegia [RCV001457710] |
Chr13:23341046 [GRCh38]
Chr13:23915185 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11568G>C (p.Val3856=) |
single nucleotide variant |
Spastic paraplegia [RCV001499770] |
Chr13:23332308 [GRCh38]
Chr13:23906447 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4828A>C (p.Arg1610=) |
single nucleotide variant |
Spastic paraplegia [RCV001458729] |
Chr13:23339048 [GRCh38]
Chr13:23913187 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10830G>A (p.Arg3610=) |
single nucleotide variant |
Spastic paraplegia [RCV001506807] |
Chr13:23333046 [GRCh38]
Chr13:23907185 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11064T>C (p.Asn3688=) |
single nucleotide variant |
Spastic paraplegia [RCV001475901] |
Chr13:23332812 [GRCh38]
Chr13:23906951 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9837A>G (p.Ala3279=) |
single nucleotide variant |
Spastic paraplegia [RCV001499553] |
Chr13:23334039 [GRCh38]
Chr13:23908178 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1716G>A (p.Leu572=) |
single nucleotide variant |
Spastic paraplegia [RCV001499569] |
Chr13:23354896 [GRCh38]
Chr13:23929035 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3546A>G (p.Ala1182=) |
single nucleotide variant |
Spastic paraplegia [RCV001496664] |
Chr13:23340330 [GRCh38]
Chr13:23914469 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1122C>T (p.His374=) |
single nucleotide variant |
Spastic paraplegia [RCV001455028] |
Chr13:23355490 [GRCh38]
Chr13:23929629 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3504A>G (p.Pro1168=) |
single nucleotide variant |
Spastic paraplegia [RCV001496785] |
Chr13:23340372 [GRCh38]
Chr13:23914511 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11244A>G (p.Val3748=) |
single nucleotide variant |
Spastic paraplegia [RCV001462728] |
Chr13:23332632 [GRCh38]
Chr13:23906771 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.394T>C (p.Leu132=) |
single nucleotide variant |
Spastic paraplegia [RCV001499970] |
Chr13:23365229 [GRCh38]
Chr13:23939368 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-107_458-104del |
microsatellite |
not provided [RCV001584745] |
Chr13:23358585..23358588 [GRCh38]
Chr13:23932724..23932727 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7023A>G (p.Leu2341=) |
single nucleotide variant |
Spastic paraplegia [RCV001452171] |
Chr13:23336853 [GRCh38]
Chr13:23910992 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4113T>A (p.Ile1371=) |
single nucleotide variant |
Spastic paraplegia [RCV001452189]|not provided [RCV003399238] |
Chr13:23339763 [GRCh38]
Chr13:23913902 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.486G>T (p.Ala162=) |
single nucleotide variant |
Spastic paraplegia [RCV001487090] |
Chr13:23358453 [GRCh38]
Chr13:23932592 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-10C>G |
single nucleotide variant |
Spastic paraplegia [RCV001500076] |
Chr13:23375279 [GRCh38]
Chr13:23949418 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3060A>G (p.Leu1020=) |
single nucleotide variant |
See cases [RCV002252684]|Spastic paraplegia [RCV001497058] |
Chr13:23340816 [GRCh38]
Chr13:23914955 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.747A>G (p.Pro249=) |
single nucleotide variant |
Spastic paraplegia [RCV001480152] |
Chr13:23355865 [GRCh38]
Chr13:23930004 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3637T>C (p.Leu1213=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001836434]|Hereditary spastic paraplegia [RCV001847292]|Spastic paraplegia [RCV001517041]|not provided [RCV001727865]|not specified [RCV001724329] |
Chr13:23340239 [GRCh38]
Chr13:23914378 [GRCh37]
Chr13:13q12.12 |
benign|likely benign|uncertain significance |
| NM_014363.6(SACS):c.1284C>T (p.Ser428=) |
single nucleotide variant |
Spastic paraplegia [RCV001452763] |
Chr13:23355328 [GRCh38]
Chr13:23929467 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11679C>T (p.Val3893=) |
single nucleotide variant |
Spastic paraplegia [RCV001470357] |
Chr13:23332197 [GRCh38]
Chr13:23906336 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12354A>G (p.Ser4118=) |
single nucleotide variant |
Spastic paraplegia [RCV001477170] |
Chr13:23331522 [GRCh38]
Chr13:23905661 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11247C>T (p.Ile3749=) |
single nucleotide variant |
Spastic paraplegia [RCV001477177] |
Chr13:23332629 [GRCh38]
Chr13:23906768 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.260-10C>T |
single nucleotide variant |
Spastic paraplegia [RCV001463038] |
Chr13:23368497 [GRCh38]
Chr13:23942636 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13686A>G (p.Glu4562=) |
single nucleotide variant |
Spastic paraplegia [RCV001480381] |
Chr13:23330190 [GRCh38]
Chr13:23904329 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847279]|Spastic paraplegia [RCV001477618] |
Chr13:23335082 [GRCh38]
Chr13:23909221 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2034C>T (p.Pro678=) |
single nucleotide variant |
Spastic paraplegia [RCV001477656] |
Chr13:23354578 [GRCh38]
Chr13:23928717 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10473T>C (p.Asp3491=) |
single nucleotide variant |
Spastic paraplegia [RCV001470851] |
Chr13:23333403 [GRCh38]
Chr13:23907542 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10686C>T (p.Phe3562=) |
single nucleotide variant |
Spastic paraplegia [RCV001500776] |
Chr13:23333190 [GRCh38]
Chr13:23907329 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9525A>G (p.Thr3175=) |
single nucleotide variant |
Spastic paraplegia [RCV001453295]|not provided [RCV003399241] |
Chr13:23334351 [GRCh38]
Chr13:23908490 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5226C>T (p.Cys1742=) |
single nucleotide variant |
Spastic paraplegia [RCV001471129] |
Chr13:23338650 [GRCh38]
Chr13:23912789 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8088A>T (p.Thr2696=) |
single nucleotide variant |
Spastic paraplegia [RCV001453023] |
Chr13:23335788 [GRCh38]
Chr13:23909927 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.-501-337C>G |
single nucleotide variant |
not provided [RCV001724567] |
Chr13:23412077 [GRCh38]
Chr13:23986216 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3451T>C (p.Leu1151=) |
single nucleotide variant |
Spastic paraplegia [RCV001504782] |
Chr13:23340425 [GRCh38]
Chr13:23914564 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.951C>T (p.Ser317=) |
single nucleotide variant |
Spastic paraplegia [RCV001453510] |
Chr13:23355661 [GRCh38]
Chr13:23929800 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8928T>C (p.Cys2976=) |
single nucleotide variant |
Spastic paraplegia [RCV001488696] |
Chr13:23334948 [GRCh38]
Chr13:23909087 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12133T>C (p.Leu4045=) |
single nucleotide variant |
Spastic paraplegia [RCV001453292]|not provided [RCV003399240] |
Chr13:23331743 [GRCh38]
Chr13:23905882 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.357G>A (p.Gln119=) |
single nucleotide variant |
Spastic paraplegia [RCV001501179] |
Chr13:23365266 [GRCh38]
Chr13:23939405 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1887G>A (p.Ala629=) |
single nucleotide variant |
Spastic paraplegia [RCV001460952] |
Chr13:23354725 [GRCh38]
Chr13:23928864 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7977A>C (p.Thr2659=) |
single nucleotide variant |
Spastic paraplegia [RCV001453522] |
Chr13:23335899 [GRCh38]
Chr13:23910038 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.483C>T (p.Asn161=) |
single nucleotide variant |
Spastic paraplegia [RCV001501685] |
Chr13:23358456 [GRCh38]
Chr13:23932595 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5598C>T (p.His1866=) |
single nucleotide variant |
Spastic paraplegia [RCV001501835] |
Chr13:23338278 [GRCh38]
Chr13:23912417 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12858C>T (p.His4286=) |
single nucleotide variant |
Spastic paraplegia [RCV001417398] |
Chr13:23331018 [GRCh38]
Chr13:23905157 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3339A>G (p.Leu1113=) |
single nucleotide variant |
Spastic paraplegia [RCV001472617] |
Chr13:23340537 [GRCh38]
Chr13:23914676 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10122T>C (p.Phe3374=) |
single nucleotide variant |
Spastic paraplegia [RCV001472640] |
Chr13:23333754 [GRCh38]
Chr13:23907893 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9696A>G (p.Thr3232=) |
single nucleotide variant |
Spastic paraplegia [RCV001426775] |
Chr13:23334180 [GRCh38]
Chr13:23908319 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.435A>G (p.Ser145=) |
single nucleotide variant |
Spastic paraplegia [RCV001426854] |
Chr13:23365188 [GRCh38]
Chr13:23939327 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5733G>A (p.Thr1911=) |
single nucleotide variant |
Spastic paraplegia [RCV001464018] |
Chr13:23338143 [GRCh38]
Chr13:23912282 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1761A>G (p.Thr587=) |
single nucleotide variant |
Spastic paraplegia [RCV001399415] |
Chr13:23354851 [GRCh38]
Chr13:23928990 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6939G>A (p.Glu2313=) |
single nucleotide variant |
Spastic paraplegia [RCV001465333] |
Chr13:23336937 [GRCh38]
Chr13:23911076 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3393C>T (p.Leu1131=) |
single nucleotide variant |
Spastic paraplegia [RCV001465366] |
Chr13:23340483 [GRCh38]
Chr13:23914622 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2181C>G (p.Thr727=) |
single nucleotide variant |
Spastic paraplegia [RCV001504558] |
Chr13:23353789 [GRCh38]
Chr13:23927928 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8190G>A (p.Leu2730=) |
single nucleotide variant |
Spastic paraplegia [RCV001468480] |
Chr13:23335686 [GRCh38]
Chr13:23909825 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11856G>A (p.Gly3952=) |
single nucleotide variant |
Spastic paraplegia [RCV001394330] |
Chr13:23332020 [GRCh38]
Chr13:23906159 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5898T>C (p.Asp1966=) |
single nucleotide variant |
Spastic paraplegia [RCV001431292] |
Chr13:23337978 [GRCh38]
Chr13:23912117 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9661G>A (p.Val3221Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001579252]|Spastic paraplegia [RCV001458158] |
Chr13:23334215 [GRCh38]
Chr13:23908354 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4161T>G (p.Pro1387=) |
single nucleotide variant |
Spastic paraplegia [RCV001450997] |
Chr13:23339715 [GRCh38]
Chr13:23913854 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9888T>G (p.Pro3296=) |
single nucleotide variant |
Spastic paraplegia [RCV001453001] |
Chr13:23333988 [GRCh38]
Chr13:23908127 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2278T>C (p.Leu760=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001826329]|Spastic paraplegia [RCV001494678]|not provided [RCV003405689] |
Chr13:23341598 [GRCh38]
Chr13:23915737 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8838C>T (p.Asn2946=) |
single nucleotide variant |
Spastic paraplegia [RCV001462502] |
Chr13:23335038 [GRCh38]
Chr13:23909177 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2379T>C (p.Asp793=) |
single nucleotide variant |
Spastic paraplegia [RCV001479821] |
Chr13:23341497 [GRCh38]
Chr13:23915636 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2532A>T (p.Val844=) |
single nucleotide variant |
Spastic paraplegia [RCV001501615] |
Chr13:23341344 [GRCh38]
Chr13:23915483 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8700T>C (p.Asp2900=) |
single nucleotide variant |
Spastic paraplegia [RCV001425238] |
Chr13:23335176 [GRCh38]
Chr13:23909315 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12297G>T (p.Leu4099=) |
single nucleotide variant |
Spastic paraplegia [RCV001482737] |
Chr13:23331579 [GRCh38]
Chr13:23905718 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2094-8C>T |
single nucleotide variant |
Spastic paraplegia [RCV001399457] |
Chr13:23353884 [GRCh38]
Chr13:23928023 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5458C>T (p.Leu1820=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001831432]|Spastic paraplegia [RCV001403344] |
Chr13:23338418 [GRCh38]
Chr13:23912557 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1470C>A (p.Ala490=) |
single nucleotide variant |
Spastic paraplegia [RCV001451039] |
Chr13:23355142 [GRCh38]
Chr13:23929281 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3726T>C (p.Asp1242=) |
single nucleotide variant |
Spastic paraplegia [RCV001458323] |
Chr13:23340150 [GRCh38]
Chr13:23914289 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.636C>T (p.Ile212=) |
single nucleotide variant |
Spastic paraplegia [RCV001470330] |
Chr13:23355976 [GRCh38]
Chr13:23930115 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6201A>G (p.Glu2067=) |
single nucleotide variant |
Spastic paraplegia [RCV001470503] |
Chr13:23337675 [GRCh38]
Chr13:23911814 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3816C>G (p.Ala1272=) |
single nucleotide variant |
Spastic paraplegia [RCV001490701] |
Chr13:23340060 [GRCh38]
Chr13:23914199 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.348A>G (p.Glu116=) |
single nucleotide variant |
Inborn genetic diseases [RCV004037311]|Spastic paraplegia [RCV001490887] |
Chr13:23365275 [GRCh38]
Chr13:23939414 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4356G>A (p.Glu1452=) |
single nucleotide variant |
Spastic paraplegia [RCV001450972] |
Chr13:23339520 [GRCh38]
Chr13:23913659 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7968A>C (p.Pro2656=) |
single nucleotide variant |
Spastic paraplegia [RCV001417474] |
Chr13:23335908 [GRCh38]
Chr13:23910047 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.426T>G (p.Thr142=) |
single nucleotide variant |
Spastic paraplegia [RCV001417500] |
Chr13:23365197 [GRCh38]
Chr13:23939336 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4944T>C (p.Phe1648=) |
single nucleotide variant |
Spastic paraplegia [RCV001439722] |
Chr13:23338932 [GRCh38]
Chr13:23913071 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9972A>T (p.Leu3324=) |
single nucleotide variant |
SACS-related condition [RCV003921148]|Spastic paraplegia [RCV001519464] |
Chr13:23333904 [GRCh38]
Chr13:23908043 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.11535A>G (p.Glu3845=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832673]|Spastic paraplegia [RCV001506234] |
Chr13:23332341 [GRCh38]
Chr13:23906480 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13152A>G (p.Ala4384=) |
single nucleotide variant |
Spastic paraplegia [RCV001473787] |
Chr13:23330724 [GRCh38]
Chr13:23904863 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11473T>C (p.Leu3825=) |
single nucleotide variant |
Spastic paraplegia [RCV001458509] |
Chr13:23332403 [GRCh38]
Chr13:23906542 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.261T>A (p.Gly87=) |
single nucleotide variant |
Spastic paraplegia [RCV001478469] |
Chr13:23368486 [GRCh38]
Chr13:23942625 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10933C>T (p.Leu3645=) |
single nucleotide variant |
Spastic paraplegia [RCV001461169] |
Chr13:23332943 [GRCh38]
Chr13:23907082 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7365T>C (p.Asp2455=) |
single nucleotide variant |
Spastic paraplegia [RCV001478488] |
Chr13:23336511 [GRCh38]
Chr13:23910650 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13208_13209del (p.Gln4403fs) |
deletion |
Spastic paraplegia [RCV001388519] |
Chr13:23330667..23330668 [GRCh38]
Chr13:23904806..23904807 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1614G>A (p.Ala538=) |
single nucleotide variant |
Spastic paraplegia [RCV001501930] |
Chr13:23354998 [GRCh38]
Chr13:23929137 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9324T>C (p.Pro3108=) |
single nucleotide variant |
Spastic paraplegia [RCV001471219] |
Chr13:23334552 [GRCh38]
Chr13:23908691 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9915C>T (p.Ser3305=) |
single nucleotide variant |
Spastic paraplegia [RCV001474075] |
Chr13:23333961 [GRCh38]
Chr13:23908100 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12375A>T (p.Gly4125=) |
single nucleotide variant |
Spastic paraplegia [RCV001474339] |
Chr13:23331501 [GRCh38]
Chr13:23905640 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.972C>T (p.Asp324=) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832649]|Spastic paraplegia [RCV001496153] |
Chr13:23355640 [GRCh38]
Chr13:23929779 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4821A>G (p.Gln1607=) |
single nucleotide variant |
Spastic paraplegia [RCV001478583] |
Chr13:23339055 [GRCh38]
Chr13:23913194 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9378A>G (p.Leu3126=) |
single nucleotide variant |
Spastic paraplegia [RCV001454130] |
Chr13:23334498 [GRCh38]
Chr13:23908637 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4434T>C (p.Phe1478=) |
single nucleotide variant |
Spastic paraplegia [RCV001406243] |
Chr13:23339442 [GRCh38]
Chr13:23913581 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10191T>C (p.His3397=) |
single nucleotide variant |
Spastic paraplegia [RCV001451578] |
Chr13:23333685 [GRCh38]
Chr13:23907824 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12399T>C (p.Gly4133=) |
single nucleotide variant |
Spastic paraplegia [RCV001480201] |
Chr13:23331477 [GRCh38]
Chr13:23905616 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12612A>G (p.Ala4204=) |
single nucleotide variant |
Spastic paraplegia [RCV001465948] |
Chr13:23331264 [GRCh38]
Chr13:23905403 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11778T>C (p.Asp3926=) |
single nucleotide variant |
Spastic paraplegia [RCV001506381] |
Chr13:23332098 [GRCh38]
Chr13:23906237 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2682G>T (p.Ser894=) |
single nucleotide variant |
Spastic paraplegia [RCV001469511] |
Chr13:23341194 [GRCh38]
Chr13:23915333 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4362A>G (p.Ser1454=) |
single nucleotide variant |
Spastic paraplegia [RCV001488810] |
Chr13:23339514 [GRCh38]
Chr13:23913653 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11775C>T (p.Asp3925=) |
single nucleotide variant |
Spastic paraplegia [RCV001463048] |
Chr13:23332101 [GRCh38]
Chr13:23906240 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12162A>G (p.Gln4054=) |
single nucleotide variant |
Spastic paraplegia [RCV001483270] |
Chr13:23331714 [GRCh38]
Chr13:23905853 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.93G>T (p.Val31=) |
single nucleotide variant |
Spastic paraplegia [RCV001419686] |
Chr13:23375197 [GRCh38]
Chr13:23949336 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12294C>T (p.Phe4098=) |
single nucleotide variant |
Spastic paraplegia [RCV001459101] |
Chr13:23331582 [GRCh38]
Chr13:23905721 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8773T>C (p.Leu2925=) |
single nucleotide variant |
Spastic paraplegia [RCV001477690] |
Chr13:23335103 [GRCh38]
Chr13:23909242 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13227A>G (p.Lys4409=) |
single nucleotide variant |
Spastic paraplegia [RCV001425511] |
Chr13:23330649 [GRCh38]
Chr13:23904788 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5646G>A (p.Leu1882=) |
single nucleotide variant |
Spastic paraplegia [RCV001425656] |
Chr13:23338230 [GRCh38]
Chr13:23912369 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2145T>G (p.Pro715=) |
single nucleotide variant |
Spastic paraplegia [RCV001436610] |
Chr13:23353825 [GRCh38]
Chr13:23927964 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4527C>T (p.Leu1509=) |
single nucleotide variant |
Spastic paraplegia [RCV001400235] |
Chr13:23339349 [GRCh38]
Chr13:23913488 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1555del (p.Glu519fs) |
deletion |
Spastic paraplegia [RCV001380169] |
Chr13:23355057 [GRCh38]
Chr13:23929196 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4692C>T (p.Tyr1564=) |
single nucleotide variant |
Spastic paraplegia [RCV001476784] |
Chr13:23339184 [GRCh38]
Chr13:23913323 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8109T>C (p.Arg2703=) |
single nucleotide variant |
Spastic paraplegia [RCV001478036] |
Chr13:23335767 [GRCh38]
Chr13:23909906 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12069T>C (p.Asn4023=) |
single nucleotide variant |
Spastic paraplegia [RCV001459143] |
Chr13:23331807 [GRCh38]
Chr13:23905946 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9846A>C (p.Pro3282=) |
single nucleotide variant |
Spastic paraplegia [RCV001461439] |
Chr13:23334030 [GRCh38]
Chr13:23908169 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4314C>T (p.Cys1438=) |
single nucleotide variant |
Spastic paraplegia [RCV001425521] |
Chr13:23339562 [GRCh38]
Chr13:23913701 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4803A>G (p.Lys1601=) |
single nucleotide variant |
Spastic paraplegia [RCV001417784] |
Chr13:23339073 [GRCh38]
Chr13:23913212 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13176C>T (p.Tyr4392=) |
single nucleotide variant |
Spastic paraplegia [RCV001393281] |
Chr13:23330700 [GRCh38]
Chr13:23904839 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11746T>C (p.Leu3916=) |
single nucleotide variant |
Spastic paraplegia [RCV001400305] |
Chr13:23332130 [GRCh38]
Chr13:23906269 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4293A>G (p.Ala1431=) |
single nucleotide variant |
Spastic paraplegia [RCV001420038] |
Chr13:23339583 [GRCh38]
Chr13:23913722 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1254A>G (p.Pro418=) |
single nucleotide variant |
Spastic paraplegia [RCV001415514] |
Chr13:23355358 [GRCh38]
Chr13:23929497 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1302A>G (p.Lys434=) |
single nucleotide variant |
Spastic paraplegia [RCV001392988] |
Chr13:23355310 [GRCh38]
Chr13:23929449 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8697T>C (p.Asp2899=) |
single nucleotide variant |
Spastic paraplegia [RCV001427424] |
Chr13:23335179 [GRCh38]
Chr13:23909318 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.930G>T (p.Leu310=) |
single nucleotide variant |
Spastic paraplegia [RCV001432573] |
Chr13:23355682 [GRCh38]
Chr13:23929821 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3255C>T (p.His1085=) |
single nucleotide variant |
Spastic paraplegia [RCV001496720] |
Chr13:23340621 [GRCh38]
Chr13:23914760 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.495C>T (p.Thr165=) |
single nucleotide variant |
Spastic paraplegia [RCV001398154] |
Chr13:23358444 [GRCh38]
Chr13:23932583 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11304T>C (p.Thr3768=) |
single nucleotide variant |
Spastic paraplegia [RCV001416021] |
Chr13:23332572 [GRCh38]
Chr13:23906711 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13149A>G (p.Ser4383=) |
single nucleotide variant |
Spastic paraplegia [RCV001483555] |
Chr13:23330727 [GRCh38]
Chr13:23904866 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4050A>G (p.Gln1350=) |
single nucleotide variant |
Spastic paraplegia [RCV001416149] |
Chr13:23339826 [GRCh38]
Chr13:23913965 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6855C>G (p.Leu2285=) |
single nucleotide variant |
Spastic paraplegia [RCV001417831] |
Chr13:23337021 [GRCh38]
Chr13:23911160 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs) |
microsatellite |
Spastic paraplegia [RCV001387164]|not provided [RCV002473290] |
Chr13:23338865..23338868 [GRCh38]
Chr13:23913004..23913007 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5785C>A (p.Arg1929=) |
single nucleotide variant |
Spastic paraplegia [RCV001416223] |
Chr13:23338091 [GRCh38]
Chr13:23912230 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6579T>C (p.Asp2193=) |
single nucleotide variant |
Spastic paraplegia [RCV001418216] |
Chr13:23337297 [GRCh38]
Chr13:23911436 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10728T>C (p.Val3576=) |
single nucleotide variant |
Spastic paraplegia [RCV001483623] |
Chr13:23333148 [GRCh38]
Chr13:23907287 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3030A>G (p.Thr1010=) |
single nucleotide variant |
Spastic paraplegia [RCV001400811] |
Chr13:23340846 [GRCh38]
Chr13:23914985 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3144A>T (p.Val1048=) |
single nucleotide variant |
Spastic paraplegia [RCV001393380] |
Chr13:23340732 [GRCh38]
Chr13:23914871 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5241A>G (p.Lys1747=) |
single nucleotide variant |
Spastic paraplegia [RCV001419962] |
Chr13:23338635 [GRCh38]
Chr13:23912774 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12873A>G (p.Lys4291=) |
single nucleotide variant |
Spastic paraplegia [RCV001407211] |
Chr13:23331003 [GRCh38]
Chr13:23905142 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13704A>C (p.Ile4568=) |
single nucleotide variant |
Spastic paraplegia [RCV001483733] |
Chr13:23330172 [GRCh38]
Chr13:23904311 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6150A>G (p.Thr2050=) |
single nucleotide variant |
Spastic paraplegia [RCV001468058] |
Chr13:23337726 [GRCh38]
Chr13:23911865 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6288A>T (p.Pro2096=) |
single nucleotide variant |
Spastic paraplegia [RCV001418725] |
Chr13:23337588 [GRCh38]
Chr13:23911727 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001526398] |
Chr13:23330288 [GRCh38]
Chr13:23904427 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1240C>T (p.Leu414=) |
single nucleotide variant |
Spastic paraplegia [RCV001494404] |
Chr13:23355372 [GRCh38]
Chr13:23929511 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6399T>C (p.Tyr2133=) |
single nucleotide variant |
Spastic paraplegia [RCV001497067] |
Chr13:23337477 [GRCh38]
Chr13:23911616 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10510T>C (p.Leu3504=) |
single nucleotide variant |
Spastic paraplegia [RCV001459554] |
Chr13:23333366 [GRCh38]
Chr13:23907505 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9927T>C (p.Ile3309=) |
single nucleotide variant |
Spastic paraplegia [RCV001459582] |
Chr13:23333949 [GRCh38]
Chr13:23908088 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7131G>A (p.Lys2377=) |
single nucleotide variant |
Spastic paraplegia [RCV001454833] |
Chr13:23336745 [GRCh38]
Chr13:23910884 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) |
single nucleotide variant |
Spastic paraplegia [RCV001456310]|not provided [RCV001813824] |
Chr13:23338921 [GRCh38]
Chr13:23913060 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13305T>C (p.Pro4435=) |
single nucleotide variant |
Spastic paraplegia [RCV001435211] |
Chr13:23330571 [GRCh38]
Chr13:23904710 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11841C>T (p.Ser3947=) |
single nucleotide variant |
Spastic paraplegia [RCV001418543] |
Chr13:23332035 [GRCh38]
Chr13:23906174 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7989C>T (p.Pro2663=) |
single nucleotide variant |
Spastic paraplegia [RCV001504048] |
Chr13:23335887 [GRCh38]
Chr13:23910026 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13338A>G (p.Glu4446=) |
single nucleotide variant |
Spastic paraplegia [RCV001504094] |
Chr13:23330538 [GRCh38]
Chr13:23904677 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2662T>C (p.Leu888=) |
single nucleotide variant |
Spastic paraplegia [RCV001398880] |
Chr13:23341214 [GRCh38]
Chr13:23915353 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1161A>T (p.Ala387=) |
single nucleotide variant |
Spastic paraplegia [RCV001426702] |
Chr13:23355451 [GRCh38]
Chr13:23929590 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12951A>G (p.Ala4317=) |
single nucleotide variant |
Spastic paraplegia [RCV001437595] |
Chr13:23330925 [GRCh38]
Chr13:23905064 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3462A>C (p.Ile1154=) |
single nucleotide variant |
Spastic paraplegia [RCV001428079] |
Chr13:23340414 [GRCh38]
Chr13:23914553 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2163A>G (p.Leu721=) |
single nucleotide variant |
Spastic paraplegia [RCV001454959] |
Chr13:23353807 [GRCh38]
Chr13:23927946 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10680T>C (p.Asn3560=) |
single nucleotide variant |
Spastic paraplegia [RCV001437398] |
Chr13:23333196 [GRCh38]
Chr13:23907335 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2586G>A (p.Pro862=) |
single nucleotide variant |
Spastic paraplegia [RCV001400961] |
Chr13:23341290 [GRCh38]
Chr13:23915429 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11985G>A (p.Leu3995=) |
single nucleotide variant |
Spastic paraplegia [RCV001424505] |
Chr13:23331891 [GRCh38]
Chr13:23906030 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3423G>A (p.Leu1141=) |
single nucleotide variant |
Spastic paraplegia [RCV001424648] |
Chr13:23340453 [GRCh38]
Chr13:23914592 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11175T>C (p.Gly3725=) |
single nucleotide variant |
Spastic paraplegia [RCV001428101] |
Chr13:23332701 [GRCh38]
Chr13:23906840 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9403T>C (p.Leu3135=) |
single nucleotide variant |
SACS-related condition [RCV003938778]|Spastic paraplegia [RCV001441683] |
Chr13:23334473 [GRCh38]
Chr13:23908612 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.210A>G (p.Lys70=) |
single nucleotide variant |
Spastic paraplegia [RCV001430820] |
Chr13:23371127 [GRCh38]
Chr13:23945266 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10098T>C (p.His3366=) |
single nucleotide variant |
Spastic paraplegia [RCV001479523] |
Chr13:23333778 [GRCh38]
Chr13:23907917 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6095C>T (p.Ser2032Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002563335]|Spastic paraplegia [RCV001501281] |
Chr13:23337781 [GRCh38]
Chr13:23911920 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1485T>C (p.Phe495=) |
single nucleotide variant |
Spastic paraplegia [RCV001417073] |
Chr13:23355127 [GRCh38]
Chr13:23929266 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6769T>C (p.Leu2257=) |
single nucleotide variant |
Spastic paraplegia [RCV001427091] |
Chr13:23337107 [GRCh38]
Chr13:23911246 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2316T>C (p.Asn772=) |
single nucleotide variant |
Spastic paraplegia [RCV001426693] |
Chr13:23341560 [GRCh38]
Chr13:23915699 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11706A>G (p.Val3902=) |
single nucleotide variant |
Spastic paraplegia [RCV001426696] |
Chr13:23332170 [GRCh38]
Chr13:23906309 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11214T>C (p.Asn3738=) |
single nucleotide variant |
Spastic paraplegia [RCV001428355] |
Chr13:23332662 [GRCh38]
Chr13:23906801 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9345G>C (p.Gly3115=) |
single nucleotide variant |
Spastic paraplegia [RCV001402737] |
Chr13:23334531 [GRCh38]
Chr13:23908670 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7314A>G (p.Glu2438=) |
single nucleotide variant |
Spastic paraplegia [RCV001456628] |
Chr13:23336562 [GRCh38]
Chr13:23910701 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1647A>G (p.Leu549=) |
single nucleotide variant |
Spastic paraplegia [RCV001456648] |
Chr13:23354965 [GRCh38]
Chr13:23929104 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2304T>C (p.Asp768=) |
single nucleotide variant |
Spastic paraplegia [RCV001504386] |
Chr13:23341572 [GRCh38]
Chr13:23915711 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NC_000013.11:g.22924987_24337204del |
deletion |
See cases [RCV003313804] |
Chr13:22924987..24337204 [GRCh38]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2734G>A (p.Asp912Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003109162] |
Chr13:23341142 [GRCh38]
Chr13:23915281 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1814C>T (p.Pro605Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001729997] |
Chr13:23354798 [GRCh38]
Chr13:23928937 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9925A>G (p.Ile3309Val) |
single nucleotide variant |
Spastic paraplegia [RCV003108352] |
Chr13:23333951 [GRCh38]
Chr13:23908090 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV002238635] |
Chr13:23333772..23333773 [GRCh38]
Chr13:23907911..23907912 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2511A>G (p.Pro837=) |
single nucleotide variant |
Spastic paraplegia [RCV002613383] |
Chr13:23341365 [GRCh38]
Chr13:23915504 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) |
single nucleotide variant |
Spastic paraplegia [RCV002539868]|not provided [RCV001756458] |
Chr13:23332600 [GRCh38]
Chr13:23906739 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 |
copy number gain |
See cases [RCV001780076] |
Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34 |
pathogenic |
| NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002034472]|not provided [RCV001772609] |
Chr13:23341547 [GRCh38]
Chr13:23915686 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.12440A>T (p.Glu4147Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003253713] |
Chr13:23331436 [GRCh38]
Chr13:23905575 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001775261] |
Chr13:23355016 [GRCh38]
Chr13:23929155 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV001775262] |
Chr13:23340716..23340717 [GRCh38]
Chr13:23914855..23914856 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002544101]|not provided [RCV001752656] |
Chr13:23331550 [GRCh38]
Chr13:23905689 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3370C>G (p.Leu1124Val) |
single nucleotide variant |
not provided [RCV001752725] |
Chr13:23340506 [GRCh38]
Chr13:23914645 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7763T>C (p.Leu2588Pro) |
single nucleotide variant |
not provided [RCV001771097] |
Chr13:23336113 [GRCh38]
Chr13:23910252 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV001783708] |
Chr13:23337082..23337109 [GRCh38]
Chr13:23911221..23911248 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001784933] |
Chr13:23336766 [GRCh38]
Chr13:23910905 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6186dup (p.Pro2063fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003470924]|not provided [RCV001806923] |
Chr13:23337689..23337690 [GRCh38]
Chr13:23911828..23911829 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002506825]|Spastic paraplegia [RCV002541247]|not provided [RCV001786671] |
Chr13:23334085 [GRCh38]
Chr13:23908224 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.10415A>G (p.Asp3472Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003163956]|not provided [RCV001815751] |
Chr13:23333461 [GRCh38]
Chr13:23907600 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3853T>G (p.Cys1285Gly) |
single nucleotide variant |
not provided [RCV001815752] |
Chr13:23340023 [GRCh38]
Chr13:23914162 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001779520] |
Chr13:23334223 [GRCh38]
Chr13:23908362 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12952T>C (p.Trp4318Arg) |
single nucleotide variant |
not provided [RCV001815750] |
Chr13:23330924 [GRCh38]
Chr13:23905063 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9412T>G (p.Tyr3138Asp) |
single nucleotide variant |
not provided [RCV001816128] |
Chr13:23334464 [GRCh38]
Chr13:23908603 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7134T>G (p.Tyr2378Ter) |
single nucleotide variant |
Abnormal central motor function [RCV001814368] |
Chr13:23336742 [GRCh38]
Chr13:23910881 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3309dup (p.Val1104fs) |
duplication |
Spastic paraplegia [RCV002542495]|not provided [RCV001822154] |
Chr13:23340566..23340567 [GRCh38]
Chr13:23914705..23914706 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6763del (p.Cys2255fs) |
deletion |
not provided [RCV001814454] |
Chr13:23337113 [GRCh38]
Chr13:23911252 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6837dup (p.Glu2280fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV001806843]|Spastic paraplegia [RCV003588769] |
Chr13:23337038..23337039 [GRCh38]
Chr13:23911177..23911178 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.600A>G (p.Ile200Met) |
single nucleotide variant |
Spastic paraplegia [RCV001863716] |
Chr13:23358339 [GRCh38]
Chr13:23932478 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002290791]|Spastic paraplegia [RCV001891348] |
Chr13:23338427..23338436 [GRCh38]
Chr13:23912566..23912575 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.3005_3006insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATATTGAAAATGC (p.Ala1002_Phe1003insAlaGlyArgGlyGlySerArgLeuTer) |
insertion |
Spastic paraplegia [RCV001928957] |
Chr13:23340870..23340871 [GRCh38]
Chr13:23915009..23915010 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4036G>C (p.Asp1346His) |
single nucleotide variant |
Inborn genetic diseases [RCV003365510]|Spastic paraplegia [RCV001911105] |
Chr13:23339840 [GRCh38]
Chr13:23913979 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9259G>A (p.Asp3087Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002022128] |
Chr13:23334617 [GRCh38]
Chr13:23908756 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10175A>G (p.Asn3392Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002007763] |
Chr13:23333701 [GRCh38]
Chr13:23907840 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847522]|Spastic paraplegia [RCV002545259] |
Chr13:23330711 [GRCh38]
Chr13:23904850 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8450C>T (p.Thr2817Met) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847547]|Spastic paraplegia [RCV002543365] |
Chr13:23335426 [GRCh38]
Chr13:23909565 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847548]|Spastic paraplegia [RCV002543366] |
Chr13:23335292 [GRCh38]
Chr13:23909431 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4587A>G (p.Gln1529=) |
single nucleotide variant |
Spastic paraplegia [RCV001928256] |
Chr13:23339289 [GRCh38]
Chr13:23913428 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1972C>T (p.Gln658Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001987866] |
Chr13:23354640 [GRCh38]
Chr13:23928779 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847520]|Spastic paraplegia [RCV002543360] |
Chr13:23331022 [GRCh38]
Chr13:23905161 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2564T>C (p.Leu855Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002482393]|Hereditary spastic paraplegia [RCV001847529]|Spastic paraplegia [RCV002543362] |
Chr13:23341312 [GRCh38]
Chr13:23915451 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847541]|Spastic paraplegia [RCV002543363] |
Chr13:23337499 [GRCh38]
Chr13:23911638 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.1153A>G (p.Lys385Glu) |
single nucleotide variant |
Spastic paraplegia [RCV001896316] |
Chr13:23355459 [GRCh38]
Chr13:23929598 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003339758]|Inborn genetic diseases [RCV003163995]|Spastic paraplegia [RCV002543324]|not specified [RCV001844664] |
Chr13:23330255 [GRCh38]
Chr13:23904394 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13085T>A (p.Leu4362Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001895500] |
Chr13:23330791 [GRCh38]
Chr13:23904930 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11848del (p.Tyr3950fs) |
deletion |
Spastic paraplegia [RCV001863890] |
Chr13:23332028 [GRCh38]
Chr13:23906167 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.176C>G (p.Ser59Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002023665] |
Chr13:23371161 [GRCh38]
Chr13:23945300 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.458-2A>C |
single nucleotide variant |
Spastic paraplegia [RCV001986687] |
Chr13:23358483 [GRCh38]
Chr13:23932622 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11624G>A (p.Arg3875His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001843500]|Hereditary spastic paraplegia [RCV001848018]|not provided [RCV002305471] |
Chr13:23332252 [GRCh38]
Chr13:23906391 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV001834436] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| GRCh37/hg19 13q11-34(chr13:19436286-114981726) |
copy number gain |
not specified [RCV002053035] |
Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.2950G>T (p.Glu984Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001890074] |
Chr13:23340926 [GRCh38]
Chr13:23915065 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4505A>T (p.Asn1502Ile) |
single nucleotide variant |
Spastic paraplegia [RCV001890401] |
Chr13:23339371 [GRCh38]
Chr13:23913510 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13732A>T (p.Lys4578Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002003017] |
Chr13:23330144 [GRCh38]
Chr13:23904283 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001843707]|Spastic paraplegia [RCV003120717] |
Chr13:23340040 [GRCh38]
Chr13:23914179 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.675T>G (p.His225Gln) |
single nucleotide variant |
Spastic paraplegia [RCV001892702] |
Chr13:23355937 [GRCh38]
Chr13:23930076 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12086C>G (p.Ala4029Gly) |
single nucleotide variant |
Spastic paraplegia [RCV001870835] |
Chr13:23331790 [GRCh38]
Chr13:23905929 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9417_9433del (p.Cys3139_Glu3145delinsTer) |
deletion |
Spastic paraplegia [RCV001967606] |
Chr13:23334443..23334459 [GRCh38]
Chr13:23908582..23908598 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8254A>C (p.Ile2752Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002003701] |
Chr13:23335622 [GRCh38]
Chr13:23909761 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6303del (p.Leu2102fs) |
deletion |
Spastic paraplegia [RCV002002380] |
Chr13:23337573 [GRCh38]
Chr13:23911712 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7187C>G (p.Thr2396Ser) |
single nucleotide variant |
not specified [RCV001844665] |
Chr13:23336689 [GRCh38]
Chr13:23910828 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1236T>A (p.Asp412Glu) |
single nucleotide variant |
Spastic paraplegia [RCV001984032] |
Chr13:23355376 [GRCh38]
Chr13:23929515 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12954G>A (p.Trp4318Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001910778] |
Chr13:23330922 [GRCh38]
Chr13:23905061 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| GRCh37/hg19 13q12.12(chr13:23981973-24479811) |
copy number gain |
not specified [RCV002053040] |
Chr13:23981973..24479811 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23553363-24970361)x1 |
copy number loss |
not provided [RCV001827677] |
Chr13:23553363..24970361 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9119dup (p.Asn3040fs) |
duplication |
Hereditary spastic paraplegia [RCV001847552]|Spastic paraplegia [RCV001885404] |
Chr13:23334756..23334757 [GRCh38]
Chr13:23908895..23908896 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003448439]|Spastic paraplegia [RCV002007485] |
Chr13:23336336..23336337 [GRCh38]
Chr13:23910475..23910476 [GRCh37]
Chr13:13q12.12 |
pathogenic|uncertain significance |
| NM_014363.6(SACS):c.1844_1845del (p.Thr615fs) |
microsatellite |
Spastic paraplegia [RCV001946699] |
Chr13:23354767..23354768 [GRCh38]
Chr13:23928906..23928907 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9069_9070del (p.Arg3024fs) |
deletion |
Spastic paraplegia [RCV001983010] |
Chr13:23334806..23334807 [GRCh38]
Chr13:23908945..23908946 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4371_4374del (p.Arg1457fs) |
microsatellite |
Spastic paraplegia [RCV002007560] |
Chr13:23339502..23339505 [GRCh38]
Chr13:23913641..23913644 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4753A>G (p.Ile1585Val) |
single nucleotide variant |
Spastic paraplegia [RCV002007876] |
Chr13:23339123 [GRCh38]
Chr13:23913262 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe) |
single nucleotide variant |
Spastic paraplegia [RCV001912874] |
Chr13:23338408 [GRCh38]
Chr13:23912547 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1705_1706del (p.Trp569fs) |
deletion |
Spastic paraplegia [RCV002002551] |
Chr13:23354906..23354907 [GRCh38]
Chr13:23929045..23929046 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1115C>T (p.Thr372Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847514] |
Chr13:23355497 [GRCh38]
Chr13:23929636 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11326A>G (p.Ile3776Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847515]|Spastic paraplegia [RCV002545258] |
Chr13:23332550 [GRCh38]
Chr13:23906689 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847518]|Spastic paraplegia [RCV002543358] |
Chr13:23331295 [GRCh38]
Chr13:23905434 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847521]|Spastic paraplegia [RCV002543361]|not provided [RCV002473306] |
Chr13:23330908 [GRCh38]
Chr13:23905047 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.157C>A (p.Arg53Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847523] |
Chr13:23375133 [GRCh38]
Chr13:23949272 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1859C>G (p.Thr620Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847524] |
Chr13:23354753 [GRCh38]
Chr13:23928892 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3253C>T (p.His1085Tyr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847532] |
Chr13:23340623 [GRCh38]
Chr13:23914762 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3450A>G (p.Thr1150=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847533] |
Chr13:23340426 [GRCh38]
Chr13:23914565 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847534] |
Chr13:23339759 [GRCh38]
Chr13:23913898 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5385G>A (p.Met1795Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847537] |
Chr13:23338491 [GRCh38]
Chr13:23912630 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.605-8C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847540] |
Chr13:23356015 [GRCh38]
Chr13:23930154 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7546A>G (p.Thr2516Ala) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847544] |
Chr13:23336330 [GRCh38]
Chr13:23910469 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7724T>G (p.Ile2575Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847545] |
Chr13:23336152 [GRCh38]
Chr13:23910291 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.874G>T (p.Val292Phe) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847549] |
Chr13:23355738 [GRCh38]
Chr13:23929877 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9081dup (p.Asp3028Ter) |
duplication |
Hereditary spastic paraplegia [RCV001847551] |
Chr13:23334794..23334795 [GRCh38]
Chr13:23908933..23908934 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6739A>G (p.Thr2247Ala) |
single nucleotide variant |
Spastic paraplegia [RCV001987109] |
Chr13:23337137 [GRCh38]
Chr13:23911276 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1639C>G (p.Pro547Ala) |
single nucleotide variant |
not specified [RCV001844663] |
Chr13:23354973 [GRCh38]
Chr13:23929112 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23633501-24447228) |
copy number loss |
not specified [RCV002053039] |
Chr13:23633501..24447228 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9143G>A (p.Arg3048His) |
single nucleotide variant |
Spastic paraplegia [RCV001913536] |
Chr13:23334733 [GRCh38]
Chr13:23908872 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7431G>C (p.Lys2477Asn) |
single nucleotide variant |
Spastic paraplegia [RCV001946098] |
Chr13:23336445 [GRCh38]
Chr13:23910584 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV002052090]|Spastic paraplegia [RCV002552344] |
Chr13:23334521..23334522 [GRCh38]
Chr13:23908660..23908661 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.11363G>A (p.Arg3788His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847516]|Inborn genetic diseases [RCV002543356]|Spastic paraplegia [RCV002543357]|not specified [RCV003226495] |
Chr13:23332513 [GRCh38]
Chr13:23906652 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del) |
microsatellite |
Hereditary spastic paraplegia [RCV001847517]|not provided [RCV002264396] |
Chr13:23332332..23332334 [GRCh38]
Chr13:23906471..23906473 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.12835C>G (p.Leu4279Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847519]|Spastic paraplegia [RCV002543359] |
Chr13:23331041 [GRCh38]
Chr13:23905180 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.21-6C>A |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847526]|Spastic paraplegia [RCV003750876] |
Chr13:23375275 [GRCh38]
Chr13:23949414 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2225G>A (p.Arg742Gln) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002478077]|Hereditary spastic paraplegia [RCV001847527] |
Chr13:23341651 [GRCh38]
Chr13:23915790 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.237dup (p.Ser80fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003470942]|Hereditary spastic paraplegia [RCV001847528] |
Chr13:23371099..23371100 [GRCh38]
Chr13:23945238..23945239 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847535] |
Chr13:23339758 [GRCh38]
Chr13:23913897 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847536]|not provided [RCV002261391] |
Chr13:23338553 [GRCh38]
Chr13:23912692 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5450C>T (p.Thr1817Met) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001847538]|Spastic paraplegia [RCV003588773] |
Chr13:23338426 [GRCh38]
Chr13:23912565 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2454T>C (p.Ile818=) |
single nucleotide variant |
Spastic paraplegia [RCV002023777] |
Chr13:23341422 [GRCh38]
Chr13:23915561 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19436286-115107733) |
copy number gain |
not specified [RCV002053036] |
Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.8196_8199del (p.Asp2733fs) |
deletion |
Spastic paraplegia [RCV002002445] |
Chr13:23335677..23335680 [GRCh38]
Chr13:23909816..23909819 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3343dup (p.Val1115fs) |
duplication |
Spastic paraplegia [RCV001891213] |
Chr13:23340532..23340533 [GRCh38]
Chr13:23914671..23914672 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10692del (p.Lys3565fs) |
deletion |
Spastic paraplegia [RCV001891232] |
Chr13:23333184 [GRCh38]
Chr13:23907323 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4519_4522del (p.Glu1507fs) |
microsatellite |
Spastic paraplegia [RCV002041966] |
Chr13:23339354..23339357 [GRCh38]
Chr13:23913493..23913496 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.475T>G (p.Tyr159Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001843706] |
Chr13:23358464 [GRCh38]
Chr13:23932603 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| GRCh37/hg19 13q12.12-12.13(chr13:23315046-25573967)x3 |
copy number gain |
not provided [RCV001834502] |
Chr13:23315046..25573967 [GRCh37]
Chr13:13q12.12-12.13 |
uncertain significance |
| NM_014363.6(SACS):c.3655C>T (p.Pro1219Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001823047] |
Chr13:23340221 [GRCh38]
Chr13:23914360 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001823469] |
Chr13:23336293 [GRCh38]
Chr13:23910432 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4268A>G (p.His1423Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001823470] |
Chr13:23339608 [GRCh38]
Chr13:23913747 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13042dup (p.Ala4348fs) |
duplication |
Spastic paraplegia [RCV001999710] |
Chr13:23330833..23330834 [GRCh38]
Chr13:23904972..23904973 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12186T>C (p.Phe4062=) |
single nucleotide variant |
Spastic paraplegia [RCV001941844] |
Chr13:23331690 [GRCh38]
Chr13:23905829 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003485753]|Spastic paraplegia [RCV001962886] |
Chr13:23334216..23334217 [GRCh38]
Chr13:23908355..23908356 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7316_7320del (p.Lys2439fs) |
microsatellite |
Spastic paraplegia [RCV001962960] |
Chr13:23336556..23336560 [GRCh38]
Chr13:23910695..23910699 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13195A>G (p.Thr4399Ala) |
single nucleotide variant |
Spastic paraplegia [RCV001888597] |
Chr13:23330681 [GRCh38]
Chr13:23904820 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6864A>G (p.Pro2288=) |
single nucleotide variant |
Spastic paraplegia [RCV001960970] |
Chr13:23337012 [GRCh38]
Chr13:23911151 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5674G>A (p.Val1892Ile) |
single nucleotide variant |
Spastic paraplegia [RCV001944105] |
Chr13:23338202 [GRCh38]
Chr13:23912341 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1807A>G (p.Lys603Glu) |
single nucleotide variant |
Spastic paraplegia [RCV001888617] |
Chr13:23354805 [GRCh38]
Chr13:23928944 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1370_1371dup (p.Thr458fs) |
duplication |
Spastic paraplegia [RCV002037806] |
Chr13:23355240..23355241 [GRCh38]
Chr13:23929379..23929380 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12839del (p.Phe4280fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003471168]|Spastic paraplegia [RCV001950930] |
Chr13:23331037 [GRCh38]
Chr13:23905176 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2281_2284del (p.Ile761fs) |
microsatellite |
Spastic paraplegia [RCV002000017] |
Chr13:23341592..23341595 [GRCh38]
Chr13:23915731..23915734 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5141T>C (p.Ile1714Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001876879] |
Chr13:23338735 [GRCh38]
Chr13:23912874 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13122G>C (p.Arg4374Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002039215] |
Chr13:23330754 [GRCh38]
Chr13:23904893 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9949A>G (p.Ser3317Gly) |
single nucleotide variant |
Spastic paraplegia [RCV001906740] |
Chr13:23333927 [GRCh38]
Chr13:23908066 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4951C>T (p.Gln1651Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001941598] |
Chr13:23338925 [GRCh38]
Chr13:23913064 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.470_471del (p.Tyr157fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002272512]|Spastic paraplegia [RCV001962227] |
Chr13:23358468..23358469 [GRCh38]
Chr13:23932607..23932608 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10788_10789del (p.Gln3597fs) |
microsatellite |
Spastic paraplegia [RCV001943515] |
Chr13:23333087..23333088 [GRCh38]
Chr13:23907226..23907227 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003136371]|Spastic paraplegia [RCV001994797] |
Chr13:23340392 [GRCh38]
Chr13:23914531 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3612T>C (p.Ser1204=) |
single nucleotide variant |
Spastic paraplegia [RCV001941635] |
Chr13:23340264 [GRCh38]
Chr13:23914403 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4775_4776del (p.Ile1592fs) |
deletion |
Spastic paraplegia [RCV001941644] |
Chr13:23339100..23339101 [GRCh38]
Chr13:23913239..23913240 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2538A>G (p.Lys846=) |
single nucleotide variant |
Spastic paraplegia [RCV001975052]|not provided [RCV003401974] |
Chr13:23341338 [GRCh38]
Chr13:23915477 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13286C>G (p.Ser4429Cys) |
single nucleotide variant |
Spastic paraplegia [RCV001936935] |
Chr13:23330590 [GRCh38]
Chr13:23904729 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003475241]|Spastic paraplegia [RCV001972740] |
Chr13:23336624 [GRCh38]
Chr13:23910763 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.2312G>T (p.Arg771Ile) |
single nucleotide variant |
Spastic paraplegia [RCV001977948] |
Chr13:23341564 [GRCh38]
Chr13:23915703 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003471188]|Spastic paraplegia [RCV001972862] |
Chr13:23335769 [GRCh38]
Chr13:23909908 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.9671G>C (p.Arg3224Pro) |
single nucleotide variant |
Spastic paraplegia [RCV001898024] |
Chr13:23334205 [GRCh38]
Chr13:23908344 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003471087]|Spastic paraplegia [RCV001934125] |
Chr13:23340131 [GRCh38]
Chr13:23914270 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.621dup (p.Ser208Ter) |
duplication |
Spastic paraplegia [RCV001916980] |
Chr13:23355990..23355991 [GRCh38]
Chr13:23930129..23930130 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1306G>A (p.Ala436Thr) |
single nucleotide variant |
Spastic paraplegia [RCV001931584] |
Chr13:23355306 [GRCh38]
Chr13:23929445 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8765dup (p.Tyr2922Ter) |
duplication |
Spastic paraplegia [RCV001994539] |
Chr13:23335110..23335111 [GRCh38]
Chr13:23909249..23909250 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9987T>A (p.Cys3329Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001994605] |
Chr13:23333889 [GRCh38]
Chr13:23908028 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4117_4118delinsTA (p.Ala1373Ter) |
indel |
Spastic paraplegia [RCV001953580] |
Chr13:23339758..23339759 [GRCh38]
Chr13:23913897..23913898 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3231T>C (p.Val1077=) |
single nucleotide variant |
Spastic paraplegia [RCV001953635] |
Chr13:23340645 [GRCh38]
Chr13:23914784 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1542dup (p.Arg515fs) |
duplication |
Spastic paraplegia [RCV001897252] |
Chr13:23355069..23355070 [GRCh38]
Chr13:23929208..23929209 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13342del (p.Arg4448fs) |
deletion |
Spastic paraplegia [RCV001951096] |
Chr13:23330534 [GRCh38]
Chr13:23904673 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.614G>T (p.Cys205Phe) |
single nucleotide variant |
Spastic paraplegia [RCV001898570] |
Chr13:23355998 [GRCh38]
Chr13:23930137 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.346-17G>A |
single nucleotide variant |
Spastic paraplegia [RCV001897296] |
Chr13:23365294 [GRCh38]
Chr13:23939433 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9702G>A (p.Trp3234Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001953837] |
Chr13:23334174 [GRCh38]
Chr13:23908313 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003136367]|Spastic paraplegia [RCV001993145] |
Chr13:23338049..23338052 [GRCh38]
Chr13:23912188..23912191 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7255G>T (p.Glu2419Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001972259] |
Chr13:23336621 [GRCh38]
Chr13:23910760 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001921071] |
Chr13:23331851 [GRCh38]
Chr13:23905990 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5743_5744del (p.His1915fs) |
deletion |
Spastic paraplegia [RCV001951390] |
Chr13:23338132..23338133 [GRCh38]
Chr13:23912271..23912272 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13391A>T (p.Asp4464Val) |
single nucleotide variant |
Spastic paraplegia [RCV002030552] |
Chr13:23330485 [GRCh38]
Chr13:23904624 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7415del (p.Pro2472fs) |
deletion |
Spastic paraplegia [RCV001994657] |
Chr13:23336461 [GRCh38]
Chr13:23910600 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10340C>T (p.Ser3447Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001960942] |
Chr13:23333536 [GRCh38]
Chr13:23907675 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003471072]|Spastic paraplegia [RCV001931462] |
Chr13:23332152 [GRCh38]
Chr13:23906291 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8955del (p.His2986fs) |
deletion |
Spastic paraplegia [RCV001925798] |
Chr13:23334921 [GRCh38]
Chr13:23909060 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.207C>T (p.Ser69=) |
single nucleotide variant |
Spastic paraplegia [RCV001950792] |
Chr13:23371130 [GRCh38]
Chr13:23945269 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2451del (p.Ile818fs) |
deletion |
Spastic paraplegia [RCV001974534] |
Chr13:23341425 [GRCh38]
Chr13:23915564 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2170G>T (p.Ala724Ser) |
single nucleotide variant |
Spastic paraplegia [RCV001931778] |
Chr13:23353800 [GRCh38]
Chr13:23927939 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8034del (p.Ser2679fs) |
deletion |
Spastic paraplegia [RCV001960602] |
Chr13:23335842 [GRCh38]
Chr13:23909981 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9834G>A (p.Trp3278Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001972058] |
Chr13:23334042 [GRCh38]
Chr13:23908181 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NC_000013.10:g.(?_23985349)_(23985388_?)del |
deletion |
Spastic paraplegia [RCV001956294] |
Chr13:23985349..23985388 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002642037]|Spastic paraplegia [RCV001996125] |
Chr13:23340615 [GRCh38]
Chr13:23914754 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12885dup (p.Lys4296fs) |
duplication |
Spastic paraplegia [RCV002035271] |
Chr13:23330990..23330991 [GRCh38]
Chr13:23905129..23905130 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8822T>G (p.Leu2941Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001939412] |
Chr13:23335054 [GRCh38]
Chr13:23909193 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002013857] |
Chr13:23334548 [GRCh38]
Chr13:23908687 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2755del (p.Arg919fs) |
deletion |
Spastic paraplegia [RCV001982168] |
Chr13:23341121 [GRCh38]
Chr13:23915260 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1627del (p.Val543fs) |
deletion |
Spastic paraplegia [RCV001883059] |
Chr13:23354985 [GRCh38]
Chr13:23929124 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6845T>A (p.Leu2282Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001955384] |
Chr13:23337031 [GRCh38]
Chr13:23911170 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2356C>A (p.Leu786Ile) |
single nucleotide variant |
Spastic paraplegia [RCV001922278] |
Chr13:23341520 [GRCh38]
Chr13:23915659 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5393_5394del (p.Ser1798fs) |
deletion |
Spastic paraplegia [RCV001958663] |
Chr13:23338482..23338483 [GRCh38]
Chr13:23912621..23912622 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10076C>A (p.Thr3359Lys) |
single nucleotide variant |
Spastic paraplegia [RCV001883323] |
Chr13:23333800 [GRCh38]
Chr13:23907939 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003471066]|Spastic paraplegia [RCV001924150] |
Chr13:23340889 [GRCh38]
Chr13:23915028 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8012A>G (p.Asp2671Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002016141] |
Chr13:23335864 [GRCh38]
Chr13:23910003 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10100_10121del (p.Tyr3367fs) |
deletion |
Spastic paraplegia [RCV001972812] |
Chr13:23333755..23333776 [GRCh38]
Chr13:23907894..23907915 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9367C>T (p.Gln3123Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001885797] |
Chr13:23334509 [GRCh38]
Chr13:23908648 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3701G>A (p.Trp1234Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001939334] |
Chr13:23340175 [GRCh38]
Chr13:23914314 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7246A>G (p.Ile2416Val) |
single nucleotide variant |
Spastic paraplegia [RCV001886198] |
Chr13:23336630 [GRCh38]
Chr13:23910769 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.453T>A (p.Tyr151Ter) |
single nucleotide variant |
Spastic paraplegia [RCV001939498] |
Chr13:23365170 [GRCh38]
Chr13:23939309 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1693A>C (p.Ile565Leu) |
single nucleotide variant |
Spastic paraplegia [RCV001981151] |
Chr13:23354919 [GRCh38]
Chr13:23929058 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NC_000013.10:g.(?_23894756)_(23985378_?)dup |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV002011595] |
Chr13:23894756..23985378 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.377C>G (p.Ala126Gly) |
single nucleotide variant |
Spastic paraplegia [RCV001974729] |
Chr13:23365246 [GRCh38]
Chr13:23939385 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002010789] |
Chr13:23331913 [GRCh38]
Chr13:23906052 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) |
single nucleotide variant |
Spastic paraplegia [RCV001977606]|not provided [RCV002473341] |
Chr13:23339279 [GRCh38]
Chr13:23913418 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NC_000013.10:g.(?_23894766)_(23985388_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV001956556]|Spastic paraplegia [RCV001956555] |
Chr13:23894766..23985388 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7080_7084del (p.His2362fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003471011]|Spastic paraplegia [RCV001919725] |
Chr13:23336792..23336796 [GRCh38]
Chr13:23910931..23910935 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.7127dup (p.Asn2376fs) |
duplication |
Spastic paraplegia [RCV001931657] |
Chr13:23336748..23336749 [GRCh38]
Chr13:23910887..23910888 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.446C>T (p.Ala149Val) |
single nucleotide variant |
Spastic paraplegia [RCV001994927] |
Chr13:23365177 [GRCh38]
Chr13:23939316 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10935G>C (p.Leu3645=) |
single nucleotide variant |
Spastic paraplegia [RCV002050887] |
Chr13:23332941 [GRCh38]
Chr13:23907080 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002027504] |
Chr13:23332409 [GRCh38]
Chr13:23906548 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10497_10500del (p.Ile3498_Tyr3499insTer) |
deletion |
Spastic paraplegia [RCV001904555] |
Chr13:23333376..23333379 [GRCh38]
Chr13:23907515..23907518 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8261dup (p.Ser2755fs) |
duplication |
Spastic paraplegia [RCV001993218] |
Chr13:23335614..23335615 [GRCh38]
Chr13:23909753..23909754 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1579T>C (p.Ser527Pro) |
single nucleotide variant |
SACS-related condition [RCV003418351]|Spastic paraplegia [RCV002031240] |
Chr13:23355033 [GRCh38]
Chr13:23929172 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.108A>G (p.Glu36=) |
single nucleotide variant |
Spastic paraplegia [RCV002167657] |
Chr13:23375182 [GRCh38]
Chr13:23949321 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8565C>T (p.Ala2855=) |
single nucleotide variant |
Spastic paraplegia [RCV002206686] |
Chr13:23335311 [GRCh38]
Chr13:23909450 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13719T>C (p.Asn4573=) |
single nucleotide variant |
Spastic paraplegia [RCV002187758] |
Chr13:23330157 [GRCh38]
Chr13:23904296 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9183C>T (p.Leu3061=) |
single nucleotide variant |
Spastic paraplegia [RCV002125390] |
Chr13:23334693 [GRCh38]
Chr13:23908832 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2616A>G (p.Leu872=) |
single nucleotide variant |
Spastic paraplegia [RCV002085426] |
Chr13:23341260 [GRCh38]
Chr13:23915399 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8976T>C (p.Leu2992=) |
single nucleotide variant |
Spastic paraplegia [RCV002107294] |
Chr13:23334900 [GRCh38]
Chr13:23909039 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12090T>C (p.Asn4030=) |
single nucleotide variant |
Spastic paraplegia [RCV002208995] |
Chr13:23331786 [GRCh38]
Chr13:23905925 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8277A>G (p.Leu2759=) |
single nucleotide variant |
Spastic paraplegia [RCV002210539] |
Chr13:23335599 [GRCh38]
Chr13:23909738 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11421G>A (p.Lys3807=) |
single nucleotide variant |
Spastic paraplegia [RCV002169776] |
Chr13:23332455 [GRCh38]
Chr13:23906594 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6858G>A (p.Lys2286=) |
single nucleotide variant |
Spastic paraplegia [RCV002104475] |
Chr13:23337018 [GRCh38]
Chr13:23911157 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1620A>G (p.Lys540=) |
single nucleotide variant |
Spastic paraplegia [RCV002169932] |
Chr13:23354992 [GRCh38]
Chr13:23929131 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8529A>G (p.Gln2843=) |
single nucleotide variant |
Spastic paraplegia [RCV002125669] |
Chr13:23335347 [GRCh38]
Chr13:23909486 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5457T>G (p.Leu1819=) |
single nucleotide variant |
Spastic paraplegia [RCV002190918] |
Chr13:23338419 [GRCh38]
Chr13:23912558 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11944T>C (p.Leu3982=) |
single nucleotide variant |
Spastic paraplegia [RCV002189750] |
Chr13:23331932 [GRCh38]
Chr13:23906071 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9231T>C (p.Ala3077=) |
single nucleotide variant |
Spastic paraplegia [RCV002185127] |
Chr13:23334645 [GRCh38]
Chr13:23908784 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2220A>G (p.Pro740=) |
single nucleotide variant |
Spastic paraplegia [RCV002186542] |
Chr13:23341656 [GRCh38]
Chr13:23915795 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2203C>T (p.Leu735=) |
single nucleotide variant |
Spastic paraplegia [RCV002090802] |
Chr13:23341673 [GRCh38]
Chr13:23915812 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11025A>G (p.Gly3675=) |
single nucleotide variant |
Spastic paraplegia [RCV002192628] |
Chr13:23332851 [GRCh38]
Chr13:23906990 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7704A>G (p.Arg2568=) |
single nucleotide variant |
Spastic paraplegia [RCV002186963] |
Chr13:23336172 [GRCh38]
Chr13:23910311 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7368T>G (p.Thr2456=) |
single nucleotide variant |
Spastic paraplegia [RCV002189878] |
Chr13:23336508 [GRCh38]
Chr13:23910647 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5892T>C (p.Tyr1964=) |
single nucleotide variant |
Spastic paraplegia [RCV002092514] |
Chr13:23337984 [GRCh38]
Chr13:23912123 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7056A>T (p.Ala2352=) |
single nucleotide variant |
Spastic paraplegia [RCV002107757] |
Chr13:23336820 [GRCh38]
Chr13:23910959 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1908G>A (p.Arg636=) |
single nucleotide variant |
Spastic paraplegia [RCV002146224] |
Chr13:23354704 [GRCh38]
Chr13:23928843 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2655G>A (p.Leu885=) |
single nucleotide variant |
Spastic paraplegia [RCV002147919] |
Chr13:23341221 [GRCh38]
Chr13:23915360 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8179T>C (p.Leu2727=) |
single nucleotide variant |
Spastic paraplegia [RCV002166924] |
Chr13:23335697 [GRCh38]
Chr13:23909836 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7062T>G (p.Val2354=) |
single nucleotide variant |
Spastic paraplegia [RCV002090910] |
Chr13:23336814 [GRCh38]
Chr13:23910953 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2883A>G (p.Arg961=) |
single nucleotide variant |
Spastic paraplegia [RCV002126198] |
Chr13:23340993 [GRCh38]
Chr13:23915132 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-8A>G |
single nucleotide variant |
Spastic paraplegia [RCV002106322] |
Chr13:23358489 [GRCh38]
Chr13:23932628 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1842C>T (p.Leu614=) |
single nucleotide variant |
Spastic paraplegia [RCV002187301] |
Chr13:23354770 [GRCh38]
Chr13:23928909 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2280G>A (p.Leu760=) |
single nucleotide variant |
Spastic paraplegia [RCV002071243] |
Chr13:23341596 [GRCh38]
Chr13:23915735 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9123A>G (p.Ala3041=) |
single nucleotide variant |
Spastic paraplegia [RCV002071266] |
Chr13:23334753 [GRCh38]
Chr13:23908892 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12045G>C (p.Leu4015=) |
single nucleotide variant |
Spastic paraplegia [RCV002091666] |
Chr13:23331831 [GRCh38]
Chr13:23905970 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8352A>C (p.Val2784=) |
single nucleotide variant |
Spastic paraplegia [RCV002187052] |
Chr13:23335524 [GRCh38]
Chr13:23909663 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10561C>T (p.Leu3521=) |
single nucleotide variant |
Spastic paraplegia [RCV002168947] |
Chr13:23333315 [GRCh38]
Chr13:23907454 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3390C>T (p.Thr1130=) |
single nucleotide variant |
Spastic paraplegia [RCV002089972] |
Chr13:23340486 [GRCh38]
Chr13:23914625 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7482A>T (p.Val2494=) |
single nucleotide variant |
Spastic paraplegia [RCV002071103] |
Chr13:23336394 [GRCh38]
Chr13:23910533 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5730C>T (p.Thr1910=) |
single nucleotide variant |
Spastic paraplegia [RCV002086781] |
Chr13:23338146 [GRCh38]
Chr13:23912285 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4491T>C (p.Ile1497=) |
single nucleotide variant |
Spastic paraplegia [RCV002109268] |
Chr13:23339385 [GRCh38]
Chr13:23913524 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2547G>C (p.Gly849=) |
single nucleotide variant |
Spastic paraplegia [RCV002167815] |
Chr13:23341329 [GRCh38]
Chr13:23915468 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6741A>C (p.Thr2247=) |
single nucleotide variant |
Spastic paraplegia [RCV002092745] |
Chr13:23337135 [GRCh38]
Chr13:23911274 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8835G>A (p.Gln2945=) |
single nucleotide variant |
Spastic paraplegia [RCV002192930] |
Chr13:23335041 [GRCh38]
Chr13:23909180 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7110C>T (p.Tyr2370=) |
single nucleotide variant |
Spastic paraplegia [RCV002167537] |
Chr13:23336766 [GRCh38]
Chr13:23910905 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6732C>T (p.Asp2244=) |
single nucleotide variant |
Spastic paraplegia [RCV002130153] |
Chr13:23337144 [GRCh38]
Chr13:23911283 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8541T>C (p.Leu2847=) |
single nucleotide variant |
Spastic paraplegia [RCV002146746] |
Chr13:23335335 [GRCh38]
Chr13:23909474 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12576T>C (p.Asp4192=) |
single nucleotide variant |
Spastic paraplegia [RCV002169970] |
Chr13:23331300 [GRCh38]
Chr13:23905439 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2478C>G (p.Val826=) |
single nucleotide variant |
Spastic paraplegia [RCV002170036] |
Chr13:23341398 [GRCh38]
Chr13:23915537 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6136C>T (p.Leu2046=) |
single nucleotide variant |
Spastic paraplegia [RCV002210886] |
Chr13:23337740 [GRCh38]
Chr13:23911879 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13299T>C (p.Phe4433=) |
single nucleotide variant |
Spastic paraplegia [RCV002130530] |
Chr13:23330577 [GRCh38]
Chr13:23904716 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10677T>A (p.Pro3559=) |
single nucleotide variant |
Spastic paraplegia [RCV002085546] |
Chr13:23333199 [GRCh38]
Chr13:23907338 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.897T>C (p.Phe299=) |
single nucleotide variant |
Spastic paraplegia [RCV002086295] |
Chr13:23355715 [GRCh38]
Chr13:23929854 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9642T>C (p.Phe3214=) |
single nucleotide variant |
Spastic paraplegia [RCV002209513] |
Chr13:23334234 [GRCh38]
Chr13:23908373 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10824T>C (p.Ser3608=) |
single nucleotide variant |
Spastic paraplegia [RCV002165671] |
Chr13:23333052 [GRCh38]
Chr13:23907191 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3666T>C (p.Ser1222=) |
single nucleotide variant |
Spastic paraplegia [RCV002106391] |
Chr13:23340210 [GRCh38]
Chr13:23914349 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8931A>T (p.Leu2977=) |
single nucleotide variant |
Spastic paraplegia [RCV002187032] |
Chr13:23334945 [GRCh38]
Chr13:23909084 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6237T>C (p.Phe2079=) |
single nucleotide variant |
Spastic paraplegia [RCV002073833] |
Chr13:23337639 [GRCh38]
Chr13:23911778 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10023C>T (p.Asp3341=) |
single nucleotide variant |
Spastic paraplegia [RCV002168538] |
Chr13:23333853 [GRCh38]
Chr13:23907992 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3516C>A (p.Val1172=) |
single nucleotide variant |
Spastic paraplegia [RCV002207593] |
Chr13:23340360 [GRCh38]
Chr13:23914499 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10428A>G (p.Val3476=) |
single nucleotide variant |
Spastic paraplegia [RCV002089333] |
Chr13:23333448 [GRCh38]
Chr13:23907587 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3554A>G (p.Asp1185Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002073946] |
Chr13:23340322 [GRCh38]
Chr13:23914461 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11983T>C (p.Leu3995=) |
single nucleotide variant |
Spastic paraplegia [RCV002145967] |
Chr13:23331893 [GRCh38]
Chr13:23906032 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1791A>G (p.Ser597=) |
single nucleotide variant |
Spastic paraplegia [RCV002185139] |
Chr13:23354821 [GRCh38]
Chr13:23928960 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8013T>C (p.Asp2671=) |
single nucleotide variant |
Spastic paraplegia [RCV002191130] |
Chr13:23335863 [GRCh38]
Chr13:23910002 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3100T>C (p.Leu1034=) |
single nucleotide variant |
Spastic paraplegia [RCV002109247] |
Chr13:23340776 [GRCh38]
Chr13:23914915 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10575G>A (p.Leu3525=) |
single nucleotide variant |
Spastic paraplegia [RCV002204991] |
Chr13:23333301 [GRCh38]
Chr13:23907440 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3732C>T (p.Asp1244=) |
single nucleotide variant |
Spastic paraplegia [RCV002090772] |
Chr13:23340144 [GRCh38]
Chr13:23914283 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9759A>G (p.Glu3253=) |
single nucleotide variant |
Spastic paraplegia [RCV002109415] |
Chr13:23334117 [GRCh38]
Chr13:23908256 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4839A>G (p.Lys1613=) |
single nucleotide variant |
Spastic paraplegia [RCV002090951] |
Chr13:23339037 [GRCh38]
Chr13:23913176 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002225241] |
Chr13:23332975 [GRCh38]
Chr13:23907114 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9996T>C (p.Leu3332=) |
single nucleotide variant |
Spastic paraplegia [RCV002075482] |
Chr13:23333880 [GRCh38]
Chr13:23908019 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13545A>G (p.Gln4515=) |
single nucleotide variant |
Spastic paraplegia [RCV002089725] |
Chr13:23330331 [GRCh38]
Chr13:23904470 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6156A>T (p.Ser2052=) |
single nucleotide variant |
Spastic paraplegia [RCV002086971] |
Chr13:23337720 [GRCh38]
Chr13:23911859 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9591T>C (p.Ser3197=) |
single nucleotide variant |
Spastic paraplegia [RCV002089830] |
Chr13:23334285 [GRCh38]
Chr13:23908424 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.810T>C (p.Phe270=) |
single nucleotide variant |
Spastic paraplegia [RCV002075573] |
Chr13:23355802 [GRCh38]
Chr13:23929941 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11838C>T (p.Leu3946=) |
single nucleotide variant |
Spastic paraplegia [RCV002185430] |
Chr13:23332038 [GRCh38]
Chr13:23906177 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2613A>G (p.Pro871=) |
single nucleotide variant |
Spastic paraplegia [RCV002188598] |
Chr13:23341263 [GRCh38]
Chr13:23915402 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10944A>G (p.Leu3648=) |
single nucleotide variant |
Spastic paraplegia [RCV002109773] |
Chr13:23332932 [GRCh38]
Chr13:23907071 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11037T>G (p.Leu3679=) |
single nucleotide variant |
Spastic paraplegia [RCV002085796] |
Chr13:23332839 [GRCh38]
Chr13:23906978 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11514G>A (p.Leu3838=) |
single nucleotide variant |
Spastic paraplegia [RCV002086018] |
Chr13:23332362 [GRCh38]
Chr13:23906501 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8226T>C (p.Asn2742=) |
single nucleotide variant |
Spastic paraplegia [RCV002091611] |
Chr13:23335650 [GRCh38]
Chr13:23909789 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3909T>C (p.Tyr1303=) |
single nucleotide variant |
Spastic paraplegia [RCV002105338] |
Chr13:23339967 [GRCh38]
Chr13:23914106 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13629C>G (p.Pro4543=) |
single nucleotide variant |
Spastic paraplegia [RCV002169832] |
Chr13:23330247 [GRCh38]
Chr13:23904386 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10932T>C (p.Phe3644=) |
single nucleotide variant |
Spastic paraplegia [RCV002152355] |
Chr13:23332944 [GRCh38]
Chr13:23907083 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11910A>G (p.Arg3970=) |
single nucleotide variant |
Spastic paraplegia [RCV002214590] |
Chr13:23331966 [GRCh38]
Chr13:23906105 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9519T>C (p.Phe3173=) |
single nucleotide variant |
Spastic paraplegia [RCV002093193] |
Chr13:23334357 [GRCh38]
Chr13:23908496 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11436C>T (p.Val3812=) |
single nucleotide variant |
Spastic paraplegia [RCV002074501] |
Chr13:23332440 [GRCh38]
Chr13:23906579 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4244C>T (p.Ser1415Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002090977] |
Chr13:23339632 [GRCh38]
Chr13:23913771 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6891G>A (p.Leu2297=) |
single nucleotide variant |
Spastic paraplegia [RCV002193516] |
Chr13:23336985 [GRCh38]
Chr13:23911124 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1638A>G (p.Gln546=) |
single nucleotide variant |
Spastic paraplegia [RCV002173358] |
Chr13:23354974 [GRCh38]
Chr13:23929113 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6879T>C (p.Val2293=) |
single nucleotide variant |
Spastic paraplegia [RCV002134951] |
Chr13:23336997 [GRCh38]
Chr13:23911136 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1389C>T (p.His463=) |
single nucleotide variant |
Spastic paraplegia [RCV002117032] |
Chr13:23355223 [GRCh38]
Chr13:23929362 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7032T>C (p.Phe2344=) |
single nucleotide variant |
Spastic paraplegia [RCV002117035] |
Chr13:23336844 [GRCh38]
Chr13:23910983 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1269C>T (p.Ala423=) |
single nucleotide variant |
Spastic paraplegia [RCV002097314] |
Chr13:23355343 [GRCh38]
Chr13:23929482 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.891G>A (p.Glu297=) |
single nucleotide variant |
Spastic paraplegia [RCV002109356] |
Chr13:23355721 [GRCh38]
Chr13:23929860 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.457+9C>A |
single nucleotide variant |
Spastic paraplegia [RCV002112687] |
Chr13:23365157 [GRCh38]
Chr13:23939296 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.18C>T (p.Asn6=) |
single nucleotide variant |
Spastic paraplegia [RCV002193184] |
Chr13:23411222 [GRCh38]
Chr13:23985361 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4143A>T (p.Ile1381=) |
single nucleotide variant |
Spastic paraplegia [RCV002095103] |
Chr13:23339733 [GRCh38]
Chr13:23913872 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6627A>G (p.Lys2209=) |
single nucleotide variant |
Spastic paraplegia [RCV002132904] |
Chr13:23337249 [GRCh38]
Chr13:23911388 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8427G>A (p.Glu2809=) |
single nucleotide variant |
Spastic paraplegia [RCV002093123] |
Chr13:23335449 [GRCh38]
Chr13:23909588 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3312G>T (p.Val1104=) |
single nucleotide variant |
Spastic paraplegia [RCV002095195] |
Chr13:23340564 [GRCh38]
Chr13:23914703 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10212A>T (p.Ile3404=) |
single nucleotide variant |
Spastic paraplegia [RCV002196780] |
Chr13:23333664 [GRCh38]
Chr13:23907803 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11427G>A (p.Glu3809=) |
single nucleotide variant |
Spastic paraplegia [RCV002152560] |
Chr13:23332449 [GRCh38]
Chr13:23906588 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3397C>T (p.Leu1133=) |
single nucleotide variant |
Spastic paraplegia [RCV002096335] |
Chr13:23340479 [GRCh38]
Chr13:23914618 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5388T>G (p.Ala1796=) |
single nucleotide variant |
Spastic paraplegia [RCV002149828] |
Chr13:23338488 [GRCh38]
Chr13:23912627 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2037C>T (p.Phe679=) |
single nucleotide variant |
Spastic paraplegia [RCV002134022] |
Chr13:23354575 [GRCh38]
Chr13:23928714 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3105A>G (p.Thr1035=) |
single nucleotide variant |
Spastic paraplegia [RCV002097584] |
Chr13:23340771 [GRCh38]
Chr13:23914910 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.858C>T (p.Leu286=) |
single nucleotide variant |
Spastic paraplegia [RCV002146396] |
Chr13:23355754 [GRCh38]
Chr13:23929893 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10353A>G (p.Ala3451=) |
single nucleotide variant |
Spastic paraplegia [RCV002173138] |
Chr13:23333523 [GRCh38]
Chr13:23907662 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5652T>G (p.Val1884=) |
single nucleotide variant |
Spastic paraplegia [RCV002134593] |
Chr13:23338224 [GRCh38]
Chr13:23912363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2295T>C (p.Tyr765=) |
single nucleotide variant |
Spastic paraplegia [RCV002170568] |
Chr13:23341581 [GRCh38]
Chr13:23915720 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1131T>C (p.Ile377=) |
single nucleotide variant |
Spastic paraplegia [RCV002093529] |
Chr13:23355481 [GRCh38]
Chr13:23929620 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13464T>C (p.Ala4488=) |
single nucleotide variant |
Spastic paraplegia [RCV002193752] |
Chr13:23330412 [GRCh38]
Chr13:23904551 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3864C>T (p.Ala1288=) |
single nucleotide variant |
Spastic paraplegia [RCV002187448] |
Chr13:23340012 [GRCh38]
Chr13:23914151 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11592T>G (p.Ser3864=) |
single nucleotide variant |
Spastic paraplegia [RCV002172818] |
Chr13:23332284 [GRCh38]
Chr13:23906423 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10773A>G (p.Leu3591=) |
single nucleotide variant |
Spastic paraplegia [RCV002078564] |
Chr13:23333103 [GRCh38]
Chr13:23907242 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2388A>G (p.Leu796=) |
single nucleotide variant |
Spastic paraplegia [RCV002104822] |
Chr13:23341488 [GRCh38]
Chr13:23915627 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13575A>G (p.Thr4525=) |
single nucleotide variant |
Spastic paraplegia [RCV002095261] |
Chr13:23330301 [GRCh38]
Chr13:23904440 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8631T>G (p.Thr2877=) |
single nucleotide variant |
Spastic paraplegia [RCV002212486] |
Chr13:23335245 [GRCh38]
Chr13:23909384 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.45C>G (p.Pro15=) |
single nucleotide variant |
Spastic paraplegia [RCV002095886] |
Chr13:23375245 [GRCh38]
Chr13:23949384 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2847C>T (p.Val949=) |
single nucleotide variant |
Spastic paraplegia [RCV002135022] |
Chr13:23341029 [GRCh38]
Chr13:23915168 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1209C>T (p.Ile403=) |
single nucleotide variant |
Spastic paraplegia [RCV002081048] |
Chr13:23355403 [GRCh38]
Chr13:23929542 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9801A>T (p.Thr3267=) |
single nucleotide variant |
Spastic paraplegia [RCV002172919] |
Chr13:23334075 [GRCh38]
Chr13:23908214 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10000T>C (p.Leu3334=) |
single nucleotide variant |
Spastic paraplegia [RCV002113850] |
Chr13:23333876 [GRCh38]
Chr13:23908015 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10002G>A (p.Leu3334=) |
single nucleotide variant |
Spastic paraplegia [RCV002190534] |
Chr13:23333874 [GRCh38]
Chr13:23908013 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8044C>T (p.Leu2682=) |
single nucleotide variant |
Spastic paraplegia [RCV002114479] |
Chr13:23335832 [GRCh38]
Chr13:23909971 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7698T>C (p.Asp2566=) |
single nucleotide variant |
Spastic paraplegia [RCV002195440] |
Chr13:23336178 [GRCh38]
Chr13:23910317 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4887A>G (p.Leu1629=) |
single nucleotide variant |
Spastic paraplegia [RCV002153328] |
Chr13:23338989 [GRCh38]
Chr13:23913128 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7338A>G (p.Lys2446=) |
single nucleotide variant |
Spastic paraplegia [RCV002097674] |
Chr13:23336538 [GRCh38]
Chr13:23910677 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11802C>T (p.Ile3934=) |
single nucleotide variant |
SACS-related condition [RCV003895793]|Spastic paraplegia [RCV002113275]|not provided [RCV003403696] |
Chr13:23332074 [GRCh38]
Chr13:23906213 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6387G>A (p.Gly2129=) |
single nucleotide variant |
SACS-related condition [RCV003903363]|Spastic paraplegia [RCV002115221] |
Chr13:23337489 [GRCh38]
Chr13:23911628 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12534G>T (p.Pro4178=) |
single nucleotide variant |
Spastic paraplegia [RCV002193642] |
Chr13:23331342 [GRCh38]
Chr13:23905481 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8295A>G (p.Val2765=) |
single nucleotide variant |
Spastic paraplegia [RCV002092471] |
Chr13:23335581 [GRCh38]
Chr13:23909720 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7758A>G (p.Pro2586=) |
single nucleotide variant |
Spastic paraplegia [RCV002151096] |
Chr13:23336118 [GRCh38]
Chr13:23910257 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2185+16A>G |
single nucleotide variant |
Spastic paraplegia [RCV002132235] |
Chr13:23353769 [GRCh38]
Chr13:23927908 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11229T>A (p.Pro3743=) |
single nucleotide variant |
Spastic paraplegia [RCV002170613] |
Chr13:23332647 [GRCh38]
Chr13:23906786 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2958A>G (p.Leu986=) |
single nucleotide variant |
Spastic paraplegia [RCV002078307] |
Chr13:23340918 [GRCh38]
Chr13:23915057 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13476G>A (p.Val4492=) |
single nucleotide variant |
Spastic paraplegia [RCV002134881] |
Chr13:23330400 [GRCh38]
Chr13:23904539 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5493G>A (p.Lys1831=) |
single nucleotide variant |
Spastic paraplegia [RCV002081117] |
Chr13:23338383 [GRCh38]
Chr13:23912522 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11652G>T (p.Leu3884=) |
single nucleotide variant |
Spastic paraplegia [RCV002213100] |
Chr13:23332224 [GRCh38]
Chr13:23906363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12582T>C (p.Tyr4194=) |
single nucleotide variant |
Spastic paraplegia [RCV002095687] |
Chr13:23331294 [GRCh38]
Chr13:23905433 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7516T>C (p.Leu2506=) |
single nucleotide variant |
Spastic paraplegia [RCV002095690] |
Chr13:23336360 [GRCh38]
Chr13:23910499 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.186C>T (p.Ile62=) |
single nucleotide variant |
Spastic paraplegia [RCV002133791] |
Chr13:23371151 [GRCh38]
Chr13:23945290 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7992A>G (p.Gly2664=) |
single nucleotide variant |
Spastic paraplegia [RCV002152658] |
Chr13:23335884 [GRCh38]
Chr13:23910023 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2220A>T (p.Pro740=) |
single nucleotide variant |
Spastic paraplegia [RCV002172867] |
Chr13:23341656 [GRCh38]
Chr13:23915795 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4872A>G (p.Val1624=) |
single nucleotide variant |
Spastic paraplegia [RCV002195972] |
Chr13:23339004 [GRCh38]
Chr13:23913143 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8820A>G (p.Thr2940=) |
single nucleotide variant |
Spastic paraplegia [RCV002174745] |
Chr13:23335056 [GRCh38]
Chr13:23909195 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9678T>C (p.Tyr3226=) |
single nucleotide variant |
Spastic paraplegia [RCV002087876] |
Chr13:23334198 [GRCh38]
Chr13:23908337 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9426T>C (p.Asp3142=) |
single nucleotide variant |
Spastic paraplegia [RCV002115143] |
Chr13:23334450 [GRCh38]
Chr13:23908589 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4209T>A (p.Ile1403=) |
single nucleotide variant |
Spastic paraplegia [RCV002115156] |
Chr13:23339667 [GRCh38]
Chr13:23913806 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.172-4del |
deletion |
Spastic paraplegia [RCV002151622] |
Chr13:23371169 [GRCh38]
Chr13:23945308 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.9873C>T (p.Asn3291=) |
single nucleotide variant |
Spastic paraplegia [RCV002087949] |
Chr13:23334003 [GRCh38]
Chr13:23908142 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9273T>C (p.Ser3091=) |
single nucleotide variant |
Spastic paraplegia [RCV002129009] |
Chr13:23334603 [GRCh38]
Chr13:23908742 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9381A>G (p.Lys3127=) |
single nucleotide variant |
Spastic paraplegia [RCV002209423] |
Chr13:23334495 [GRCh38]
Chr13:23908634 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.339T>C (p.Ile113=) |
single nucleotide variant |
Spastic paraplegia [RCV002112534] |
Chr13:23368408 [GRCh38]
Chr13:23942547 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.54G>C (p.Val18=) |
single nucleotide variant |
Spastic paraplegia [RCV002095504] |
Chr13:23375236 [GRCh38]
Chr13:23949375 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12966A>G (p.Glu4322=) |
single nucleotide variant |
Spastic paraplegia [RCV002076249] |
Chr13:23330910 [GRCh38]
Chr13:23905049 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7839G>A (p.Glu2613=) |
single nucleotide variant |
Spastic paraplegia [RCV002095553] |
Chr13:23336037 [GRCh38]
Chr13:23910176 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1443G>A (p.Glu481=) |
single nucleotide variant |
Spastic paraplegia [RCV002126309]|not provided [RCV003403714] |
Chr13:23355169 [GRCh38]
Chr13:23929308 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7785A>G (p.Pro2595=) |
single nucleotide variant |
Spastic paraplegia [RCV002079535] |
Chr13:23336091 [GRCh38]
Chr13:23910230 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3618T>C (p.His1206=) |
single nucleotide variant |
Spastic paraplegia [RCV002105351] |
Chr13:23340258 [GRCh38]
Chr13:23914397 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2093+9C>A |
single nucleotide variant |
Spastic paraplegia [RCV002209775] |
Chr13:23354510 [GRCh38]
Chr13:23928649 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3243A>G (p.Pro1081=) |
single nucleotide variant |
Spastic paraplegia [RCV002133827] |
Chr13:23340633 [GRCh38]
Chr13:23914772 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7617T>C (p.Tyr2539=) |
single nucleotide variant |
Spastic paraplegia [RCV002171842] |
Chr13:23336259 [GRCh38]
Chr13:23910398 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7230A>G (p.Glu2410=) |
single nucleotide variant |
Spastic paraplegia [RCV002104683] |
Chr13:23336646 [GRCh38]
Chr13:23910785 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.153G>C (p.Leu51=) |
single nucleotide variant |
Spastic paraplegia [RCV002092933] |
Chr13:23375137 [GRCh38]
Chr13:23949276 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13107T>C (p.Asp4369=) |
single nucleotide variant |
Spastic paraplegia [RCV002091699] |
Chr13:23330769 [GRCh38]
Chr13:23904908 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12243T>C (p.Asn4081=) |
single nucleotide variant |
Spastic paraplegia [RCV002130999] |
Chr13:23331633 [GRCh38]
Chr13:23905772 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.45C>T (p.Pro15=) |
single nucleotide variant |
Spastic paraplegia [RCV002094219] |
Chr13:23375245 [GRCh38]
Chr13:23949384 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.42C>G (p.Leu14=) |
single nucleotide variant |
Spastic paraplegia [RCV002151266] |
Chr13:23375248 [GRCh38]
Chr13:23949387 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3969A>T (p.Ser1323=) |
single nucleotide variant |
Spastic paraplegia [RCV002133389] |
Chr13:23339907 [GRCh38]
Chr13:23914046 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3912G>A (p.Leu1304=) |
single nucleotide variant |
Spastic paraplegia [RCV002173758] |
Chr13:23339964 [GRCh38]
Chr13:23914103 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13671T>A (p.Ala4557=) |
single nucleotide variant |
Spastic paraplegia [RCV002215565] |
Chr13:23330205 [GRCh38]
Chr13:23904344 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1833T>A (p.Ala611=) |
single nucleotide variant |
Spastic paraplegia [RCV002086349] |
Chr13:23354779 [GRCh38]
Chr13:23928918 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12231G>A (p.Lys4077=) |
single nucleotide variant |
Spastic paraplegia [RCV002128340] |
Chr13:23331645 [GRCh38]
Chr13:23905784 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5527C>T (p.Leu1843=) |
single nucleotide variant |
Spastic paraplegia [RCV002170782] |
Chr13:23338349 [GRCh38]
Chr13:23912488 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9132T>C (p.Asn3044=) |
single nucleotide variant |
Spastic paraplegia [RCV002093694] |
Chr13:23334744 [GRCh38]
Chr13:23908883 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12205A>C (p.Arg4069=) |
single nucleotide variant |
Spastic paraplegia [RCV002086482] |
Chr13:23331671 [GRCh38]
Chr13:23905810 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1458A>G (p.Arg486=) |
single nucleotide variant |
Spastic paraplegia [RCV002193902] |
Chr13:23355154 [GRCh38]
Chr13:23929293 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6825A>C (p.Ser2275=) |
single nucleotide variant |
Spastic paraplegia [RCV002131294] |
Chr13:23337051 [GRCh38]
Chr13:23911190 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5103G>A (p.Glu1701=) |
single nucleotide variant |
Spastic paraplegia [RCV002171064] |
Chr13:23338773 [GRCh38]
Chr13:23912912 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9111C>T (p.His3037=) |
single nucleotide variant |
Spastic paraplegia [RCV002169690] |
Chr13:23334765 [GRCh38]
Chr13:23908904 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7404C>T (p.Tyr2468=) |
single nucleotide variant |
Spastic paraplegia [RCV002213524] |
Chr13:23336472 [GRCh38]
Chr13:23910611 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.363A>G (p.Ala121=) |
single nucleotide variant |
Spastic paraplegia [RCV002193396] |
Chr13:23365260 [GRCh38]
Chr13:23939399 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12714C>T (p.Ser4238=) |
single nucleotide variant |
Spastic paraplegia [RCV002114262] |
Chr13:23331162 [GRCh38]
Chr13:23905301 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8994T>A (p.Ala2998=) |
single nucleotide variant |
Spastic paraplegia [RCV002172573] |
Chr13:23334882 [GRCh38]
Chr13:23909021 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10500T>A (p.Leu3500=) |
single nucleotide variant |
Spastic paraplegia [RCV002172588] |
Chr13:23333376 [GRCh38]
Chr13:23907515 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4161T>C (p.Pro1387=) |
single nucleotide variant |
Spastic paraplegia [RCV002097040] |
Chr13:23339715 [GRCh38]
Chr13:23913854 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11379G>C (p.Gly3793=) |
single nucleotide variant |
Spastic paraplegia [RCV002172052] |
Chr13:23332497 [GRCh38]
Chr13:23906636 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5184C>T (p.Val1728=) |
single nucleotide variant |
Spastic paraplegia [RCV002197150] |
Chr13:23338692 [GRCh38]
Chr13:23912831 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.316A>C (p.Arg106=) |
single nucleotide variant |
Spastic paraplegia [RCV002078009] |
Chr13:23368431 [GRCh38]
Chr13:23942570 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9538T>C (p.Leu3180=) |
single nucleotide variant |
Spastic paraplegia [RCV002134077] |
Chr13:23334338 [GRCh38]
Chr13:23908477 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7311A>G (p.Arg2437=) |
single nucleotide variant |
Spastic paraplegia [RCV002096428] |
Chr13:23336565 [GRCh38]
Chr13:23910704 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-17C>T |
single nucleotide variant |
Spastic paraplegia [RCV002110399] |
Chr13:23358498 [GRCh38]
Chr13:23932637 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8064C>A (p.Thr2688=) |
single nucleotide variant |
Spastic paraplegia [RCV002170143] |
Chr13:23335812 [GRCh38]
Chr13:23909951 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7920T>C (p.Ser2640=) |
single nucleotide variant |
Spastic paraplegia [RCV002136986] |
Chr13:23335956 [GRCh38]
Chr13:23910095 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1887G>T (p.Ala629=) |
single nucleotide variant |
Spastic paraplegia [RCV002101577] |
Chr13:23354725 [GRCh38]
Chr13:23928864 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3165C>T (p.Asp1055=) |
single nucleotide variant |
Spastic paraplegia [RCV002179113] |
Chr13:23340711 [GRCh38]
Chr13:23914850 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8323T>C (p.Leu2775=) |
single nucleotide variant |
Spastic paraplegia [RCV002201550] |
Chr13:23335553 [GRCh38]
Chr13:23909692 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11376A>C (p.Arg3792=) |
single nucleotide variant |
Spastic paraplegia [RCV002083420] |
Chr13:23332500 [GRCh38]
Chr13:23906639 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3780T>C (p.His1260=) |
single nucleotide variant |
Spastic paraplegia [RCV002123650] |
Chr13:23340096 [GRCh38]
Chr13:23914235 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12477A>T (p.Pro4159=) |
single nucleotide variant |
Spastic paraplegia [RCV002179813] |
Chr13:23331399 [GRCh38]
Chr13:23905538 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4200T>C (p.Tyr1400=) |
single nucleotide variant |
Spastic paraplegia [RCV002204134] |
Chr13:23339676 [GRCh38]
Chr13:23913815 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6930G>A (p.Leu2310=) |
single nucleotide variant |
Spastic paraplegia [RCV002217386] |
Chr13:23336946 [GRCh38]
Chr13:23911085 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9651G>A (p.Leu3217=) |
single nucleotide variant |
Spastic paraplegia [RCV002120262] |
Chr13:23334225 [GRCh38]
Chr13:23908364 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1566T>G (p.Ser522=) |
single nucleotide variant |
Spastic paraplegia [RCV002219336] |
Chr13:23355046 [GRCh38]
Chr13:23929185 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3501T>C (p.Tyr1167=) |
single nucleotide variant |
Spastic paraplegia [RCV002180210] |
Chr13:23340375 [GRCh38]
Chr13:23914514 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2186-6T>C |
single nucleotide variant |
Spastic paraplegia [RCV002217698] |
Chr13:23341696 [GRCh38]
Chr13:23915835 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12498C>T (p.Tyr4166=) |
single nucleotide variant |
Spastic paraplegia [RCV002202543] |
Chr13:23331378 [GRCh38]
Chr13:23905517 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2583T>C (p.His861=) |
single nucleotide variant |
Spastic paraplegia [RCV002140092] |
Chr13:23341293 [GRCh38]
Chr13:23915432 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8241T>C (p.Ile2747=) |
single nucleotide variant |
Spastic paraplegia [RCV002219866] |
Chr13:23335635 [GRCh38]
Chr13:23909774 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.259+9T>C |
single nucleotide variant |
Spastic paraplegia [RCV002138674] |
Chr13:23371069 [GRCh38]
Chr13:23945208 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11040A>C (p.Ile3680=) |
single nucleotide variant |
Spastic paraplegia [RCV002140384] |
Chr13:23332836 [GRCh38]
Chr13:23906975 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2373A>G (p.Ser791=) |
single nucleotide variant |
Spastic paraplegia [RCV002180383] |
Chr13:23341503 [GRCh38]
Chr13:23915642 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.42C>T (p.Leu14=) |
single nucleotide variant |
Spastic paraplegia [RCV002178369] |
Chr13:23375248 [GRCh38]
Chr13:23949387 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7932C>T (p.Ile2644=) |
single nucleotide variant |
Spastic paraplegia [RCV002178450] |
Chr13:23335944 [GRCh38]
Chr13:23910083 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5754G>A (p.Val1918=) |
single nucleotide variant |
Spastic paraplegia [RCV002158895] |
Chr13:23338122 [GRCh38]
Chr13:23912261 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13063T>C (p.Leu4355=) |
single nucleotide variant |
Spastic paraplegia [RCV002178845] |
Chr13:23330813 [GRCh38]
Chr13:23904952 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9891A>G (p.Glu3297=) |
single nucleotide variant |
Spastic paraplegia [RCV002097762] |
Chr13:23333985 [GRCh38]
Chr13:23908124 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6702T>C (p.Phe2234=) |
single nucleotide variant |
Spastic paraplegia [RCV002218458] |
Chr13:23337174 [GRCh38]
Chr13:23911313 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5736C>T (p.Phe1912=) |
single nucleotide variant |
Spastic paraplegia [RCV002144491] |
Chr13:23338140 [GRCh38]
Chr13:23912279 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1812A>G (p.Val604=) |
single nucleotide variant |
Spastic paraplegia [RCV002081403] |
Chr13:23354800 [GRCh38]
Chr13:23928939 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3321A>C (p.Ala1107=) |
single nucleotide variant |
Spastic paraplegia [RCV002197805] |
Chr13:23340555 [GRCh38]
Chr13:23914694 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5451G>A (p.Thr1817=) |
single nucleotide variant |
Spastic paraplegia [RCV002117644] |
Chr13:23338425 [GRCh38]
Chr13:23912564 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10260T>C (p.Tyr3420=) |
single nucleotide variant |
Spastic paraplegia [RCV002143021] |
Chr13:23333616 [GRCh38]
Chr13:23907755 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4860A>G (p.Pro1620=) |
single nucleotide variant |
Spastic paraplegia [RCV002143181] |
Chr13:23339016 [GRCh38]
Chr13:23913155 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12474A>G (p.Thr4158=) |
single nucleotide variant |
Spastic paraplegia [RCV002123909] |
Chr13:23331402 [GRCh38]
Chr13:23905541 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13236A>G (p.Arg4412=) |
single nucleotide variant |
Spastic paraplegia [RCV002100471] |
Chr13:23330640 [GRCh38]
Chr13:23904779 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2750A>T (p.Glu917Val) |
single nucleotide variant |
Spastic paraplegia [RCV002136001] |
Chr13:23341126 [GRCh38]
Chr13:23915265 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5670T>C (p.Phe1890=) |
single nucleotide variant |
Spastic paraplegia [RCV002163703] |
Chr13:23338206 [GRCh38]
Chr13:23912345 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7539C>G (p.Val2513=) |
single nucleotide variant |
Spastic paraplegia [RCV002120120] |
Chr13:23336337 [GRCh38]
Chr13:23910476 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-8T>C |
single nucleotide variant |
Spastic paraplegia [RCV002118348] |
Chr13:23375277 [GRCh38]
Chr13:23949416 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4632T>C (p.Ser1544=) |
single nucleotide variant |
Spastic paraplegia [RCV002082057] |
Chr13:23339244 [GRCh38]
Chr13:23913383 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11697C>G (p.Leu3899=) |
single nucleotide variant |
Spastic paraplegia [RCV002217376] |
Chr13:23332179 [GRCh38]
Chr13:23906318 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2115A>G (p.Glu705=) |
single nucleotide variant |
Spastic paraplegia [RCV002162463] |
Chr13:23353855 [GRCh38]
Chr13:23927994 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4038T>C (p.Asp1346=) |
single nucleotide variant |
Spastic paraplegia [RCV002200866] |
Chr13:23339838 [GRCh38]
Chr13:23913977 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1773C>T (p.Leu591=) |
single nucleotide variant |
Spastic paraplegia [RCV002143924] |
Chr13:23354839 [GRCh38]
Chr13:23928978 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4684del (p.Ser1562fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002251088] |
Chr13:23339192 [GRCh38]
Chr13:23913331 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002251128] |
Chr13:23332863..23332868 [GRCh38]
Chr13:23907002..23907007 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2346T>C (p.Val782=) |
single nucleotide variant |
Spastic paraplegia [RCV002184122] |
Chr13:23341530 [GRCh38]
Chr13:23915669 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10518T>C (p.Ser3506=) |
single nucleotide variant |
Spastic paraplegia [RCV002164464] |
Chr13:23333358 [GRCh38]
Chr13:23907497 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1575C>G (p.Pro525=) |
single nucleotide variant |
Spastic paraplegia [RCV002082795] |
Chr13:23355037 [GRCh38]
Chr13:23929176 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10545A>G (p.Glu3515=) |
single nucleotide variant |
Spastic paraplegia [RCV002160756] |
Chr13:23333331 [GRCh38]
Chr13:23907470 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3624C>T (p.Asn1208=) |
single nucleotide variant |
Spastic paraplegia [RCV002216402] |
Chr13:23340252 [GRCh38]
Chr13:23914391 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12156G>A (p.Lys4052=) |
single nucleotide variant |
Spastic paraplegia [RCV002081204] |
Chr13:23331720 [GRCh38]
Chr13:23905859 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4707T>C (p.Ile1569=) |
single nucleotide variant |
Spastic paraplegia [RCV002101764] |
Chr13:23339169 [GRCh38]
Chr13:23913308 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7548A>G (p.Thr2516=) |
single nucleotide variant |
Spastic paraplegia [RCV002139040] |
Chr13:23336328 [GRCh38]
Chr13:23910467 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13575A>T (p.Thr4525=) |
single nucleotide variant |
Spastic paraplegia [RCV002175373] |
Chr13:23330301 [GRCh38]
Chr13:23904440 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12060G>A (p.Lys4020=) |
single nucleotide variant |
Spastic paraplegia [RCV002140492] |
Chr13:23331816 [GRCh38]
Chr13:23905955 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9361C>T (p.Leu3121=) |
single nucleotide variant |
Spastic paraplegia [RCV002101842] |
Chr13:23334515 [GRCh38]
Chr13:23908654 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.114C>T (p.Ile38=) |
single nucleotide variant |
Spastic paraplegia [RCV002163026] |
Chr13:23375176 [GRCh38]
Chr13:23949315 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12975A>G (p.Arg4325=) |
single nucleotide variant |
Spastic paraplegia [RCV002137463] |
Chr13:23330901 [GRCh38]
Chr13:23905040 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13668T>C (p.Val4556=) |
single nucleotide variant |
Spastic paraplegia [RCV002163148] |
Chr13:23330208 [GRCh38]
Chr13:23904347 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1273C>A (p.Pro425Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002119763] |
Chr13:23355339 [GRCh38]
Chr13:23929478 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13320G>C (p.Ser4440=) |
single nucleotide variant |
Spastic paraplegia [RCV002123198] |
Chr13:23330556 [GRCh38]
Chr13:23904695 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12789C>G (p.Thr4263=) |
single nucleotide variant |
Spastic paraplegia [RCV002203337] |
Chr13:23331087 [GRCh38]
Chr13:23905226 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4926C>T (p.Thr1642=) |
single nucleotide variant |
Spastic paraplegia [RCV002140897] |
Chr13:23338950 [GRCh38]
Chr13:23913089 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13680G>T (p.Val4560=) |
single nucleotide variant |
Spastic paraplegia [RCV002100452] |
Chr13:23330196 [GRCh38]
Chr13:23904335 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1971C>T (p.Asp657=) |
single nucleotide variant |
Spastic paraplegia [RCV002123219] |
Chr13:23354641 [GRCh38]
Chr13:23928780 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12717T>C (p.Ser4239=) |
single nucleotide variant |
Spastic paraplegia [RCV002100460] |
Chr13:23331159 [GRCh38]
Chr13:23905298 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4383T>C (p.Thr1461=) |
single nucleotide variant |
Spastic paraplegia [RCV002203461] |
Chr13:23339493 [GRCh38]
Chr13:23913632 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10335A>T (p.Thr3445=) |
single nucleotide variant |
Spastic paraplegia [RCV002154684] |
Chr13:23333541 [GRCh38]
Chr13:23907680 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11571G>A (p.Leu3857=) |
single nucleotide variant |
Spastic paraplegia [RCV002100549] |
Chr13:23332305 [GRCh38]
Chr13:23906444 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12441G>A (p.Glu4147=) |
single nucleotide variant |
Spastic paraplegia [RCV002200534] |
Chr13:23331435 [GRCh38]
Chr13:23905574 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9195T>C (p.Ile3065=) |
single nucleotide variant |
Spastic paraplegia [RCV002221142] |
Chr13:23334681 [GRCh38]
Chr13:23908820 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8496A>T (p.Val2832=) |
single nucleotide variant |
Spastic paraplegia [RCV002221143] |
Chr13:23335380 [GRCh38]
Chr13:23909519 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11226T>C (p.Asp3742=) |
single nucleotide variant |
Spastic paraplegia [RCV002198706] |
Chr13:23332650 [GRCh38]
Chr13:23906789 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4215T>C (p.Val1405=) |
single nucleotide variant |
Spastic paraplegia [RCV002219408] |
Chr13:23339661 [GRCh38]
Chr13:23913800 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4479C>T (p.Cys1493=) |
single nucleotide variant |
Spastic paraplegia [RCV002219381] |
Chr13:23339397 [GRCh38]
Chr13:23913536 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4698C>T (p.Ile1566=) |
single nucleotide variant |
Spastic paraplegia [RCV002138210] |
Chr13:23339178 [GRCh38]
Chr13:23913317 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9510A>C (p.Arg3170=) |
single nucleotide variant |
Spastic paraplegia [RCV002143408] |
Chr13:23334366 [GRCh38]
Chr13:23908505 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13737G>A (p.Val4579=) |
single nucleotide variant |
Spastic paraplegia [RCV002176428] |
Chr13:23330139 [GRCh38]
Chr13:23904278 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13263C>G (p.Pro4421=) |
single nucleotide variant |
Spastic paraplegia [RCV002122253] |
Chr13:23330613 [GRCh38]
Chr13:23904752 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9474A>G (p.Thr3158=) |
single nucleotide variant |
Spastic paraplegia [RCV002118874] |
Chr13:23334402 [GRCh38]
Chr13:23908541 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6999T>C (p.Thr2333=) |
single nucleotide variant |
Spastic paraplegia [RCV002155290] |
Chr13:23336877 [GRCh38]
Chr13:23911016 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7362A>G (p.Pro2454=) |
single nucleotide variant |
Spastic paraplegia [RCV002157187] |
Chr13:23336514 [GRCh38]
Chr13:23910653 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7068A>G (p.Ser2356=) |
single nucleotide variant |
Spastic paraplegia [RCV002160378] |
Chr13:23336808 [GRCh38]
Chr13:23910947 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13557G>C (p.Leu4519=) |
single nucleotide variant |
Spastic paraplegia [RCV002120903] |
Chr13:23330319 [GRCh38]
Chr13:23904458 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8286G>A (p.Leu2762=) |
single nucleotide variant |
Spastic paraplegia [RCV002204365] |
Chr13:23335590 [GRCh38]
Chr13:23909729 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8514A>C (p.Ser2838=) |
single nucleotide variant |
Spastic paraplegia [RCV002143690] |
Chr13:23335362 [GRCh38]
Chr13:23909501 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8319C>T (p.Asp2773=) |
single nucleotide variant |
Spastic paraplegia [RCV002157462] |
Chr13:23335557 [GRCh38]
Chr13:23909696 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12810C>T (p.Thr4270=) |
single nucleotide variant |
Spastic paraplegia [RCV002203148] |
Chr13:23331066 [GRCh38]
Chr13:23905205 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4938G>A (p.Leu1646=) |
single nucleotide variant |
Spastic paraplegia [RCV002081245] |
Chr13:23338938 [GRCh38]
Chr13:23913077 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-10C>T |
single nucleotide variant |
Spastic paraplegia [RCV002138986] |
Chr13:23375279 [GRCh38]
Chr13:23949418 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3309T>C (p.Val1103=) |
single nucleotide variant |
Spastic paraplegia [RCV002153921] |
Chr13:23340567 [GRCh38]
Chr13:23914706 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1155G>A (p.Lys385=) |
single nucleotide variant |
Spastic paraplegia [RCV002197985] |
Chr13:23355457 [GRCh38]
Chr13:23929596 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10095A>G (p.Leu3365=) |
single nucleotide variant |
Spastic paraplegia [RCV002199950] |
Chr13:23333781 [GRCh38]
Chr13:23907920 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10164G>A (p.Leu3388=) |
single nucleotide variant |
Spastic paraplegia [RCV002220712] |
Chr13:23333712 [GRCh38]
Chr13:23907851 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7464A>C (p.Ile2488=) |
single nucleotide variant |
Spastic paraplegia [RCV002183089] |
Chr13:23336412 [GRCh38]
Chr13:23910551 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1290T>C (p.Asp430=) |
single nucleotide variant |
Spastic paraplegia [RCV002140748] |
Chr13:23355322 [GRCh38]
Chr13:23929461 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4536A>G (p.Pro1512=) |
single nucleotide variant |
Spastic paraplegia [RCV002140754] |
Chr13:23339340 [GRCh38]
Chr13:23913479 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12783A>G (p.Thr4261=) |
single nucleotide variant |
Spastic paraplegia [RCV002156070] |
Chr13:23331093 [GRCh38]
Chr13:23905232 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11317T>C (p.Leu3773=) |
single nucleotide variant |
Spastic paraplegia [RCV002179296] |
Chr13:23332559 [GRCh38]
Chr13:23906698 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1714T>C (p.Leu572=) |
single nucleotide variant |
Spastic paraplegia [RCV002158071] |
Chr13:23354898 [GRCh38]
Chr13:23929037 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10068G>A (p.Glu3356=) |
single nucleotide variant |
Spastic paraplegia [RCV002216776] |
Chr13:23333808 [GRCh38]
Chr13:23907947 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-5C>T |
single nucleotide variant |
Spastic paraplegia [RCV002220891] |
Chr13:23358486 [GRCh38]
Chr13:23932625 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.172-8T>C |
single nucleotide variant |
Spastic paraplegia [RCV002141351] |
Chr13:23371173 [GRCh38]
Chr13:23945312 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6897A>G (p.Glu2299=) |
single nucleotide variant |
Spastic paraplegia [RCV002156630] |
Chr13:23336979 [GRCh38]
Chr13:23911118 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9336C>T (p.Cys3112=) |
single nucleotide variant |
Spastic paraplegia [RCV002141071] |
Chr13:23334540 [GRCh38]
Chr13:23908679 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9516G>A (p.Lys3172=) |
single nucleotide variant |
Spastic paraplegia [RCV002183583] |
Chr13:23334360 [GRCh38]
Chr13:23908499 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6996C>T (p.Ile2332=) |
single nucleotide variant |
Spastic paraplegia [RCV002183605] |
Chr13:23336880 [GRCh38]
Chr13:23911019 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.999G>C (p.Val333=) |
single nucleotide variant |
Spastic paraplegia [RCV002177815] |
Chr13:23355613 [GRCh38]
Chr13:23929752 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1212T>C (p.Ser404=) |
single nucleotide variant |
Spastic paraplegia [RCV002139719] |
Chr13:23355400 [GRCh38]
Chr13:23929539 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+8A>C |
single nucleotide variant |
Spastic paraplegia [RCV002118400] |
Chr13:23368394 [GRCh38]
Chr13:23942533 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.939G>T (p.Val313=) |
single nucleotide variant |
Spastic paraplegia [RCV002179849] |
Chr13:23355673 [GRCh38]
Chr13:23929812 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11187G>A (p.Gln3729=) |
single nucleotide variant |
Spastic paraplegia [RCV002122186] |
Chr13:23332689 [GRCh38]
Chr13:23906828 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12720T>C (p.Leu4240=) |
single nucleotide variant |
Spastic paraplegia [RCV002203932] |
Chr13:23331156 [GRCh38]
Chr13:23905295 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10551T>A (p.Leu3517=) |
single nucleotide variant |
Spastic paraplegia [RCV002156852] |
Chr13:23333325 [GRCh38]
Chr13:23907464 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3210A>G (p.Gly1070=) |
single nucleotide variant |
Spastic paraplegia [RCV002179962] |
Chr13:23340666 [GRCh38]
Chr13:23914805 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1878G>T (p.Val626=) |
single nucleotide variant |
Spastic paraplegia [RCV002219755] |
Chr13:23354734 [GRCh38]
Chr13:23928873 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV002226971] |
Chr13:23336297..23336300 [GRCh38]
Chr13:23910436..23910439 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.458-6A>G |
single nucleotide variant |
Spastic paraplegia [RCV002102910] |
Chr13:23358487 [GRCh38]
Chr13:23932626 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10650T>A (p.Val3550=) |
single nucleotide variant |
Spastic paraplegia [RCV002204199] |
Chr13:23333226 [GRCh38]
Chr13:23907365 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3300A>G (p.Glu1100=) |
single nucleotide variant |
Spastic paraplegia [RCV002144219] |
Chr13:23340576 [GRCh38]
Chr13:23914715 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11916A>G (p.Arg3972=) |
single nucleotide variant |
Spastic paraplegia [RCV002084491] |
Chr13:23331960 [GRCh38]
Chr13:23906099 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11139C>T (p.Pro3713=) |
single nucleotide variant |
Spastic paraplegia [RCV002103164] |
Chr13:23332737 [GRCh38]
Chr13:23906876 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1077T>C (p.Tyr359=) |
single nucleotide variant |
Spastic paraplegia [RCV002119165] |
Chr13:23355535 [GRCh38]
Chr13:23929674 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7125T>C (p.Pro2375=) |
single nucleotide variant |
Spastic paraplegia [RCV002163106] |
Chr13:23336751 [GRCh38]
Chr13:23910890 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4261T>C (p.Leu1421=) |
single nucleotide variant |
Spastic paraplegia [RCV002180427] |
Chr13:23339615 [GRCh38]
Chr13:23913754 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12318T>C (p.Leu4106=) |
single nucleotide variant |
Spastic paraplegia [RCV002182326] |
Chr13:23331558 [GRCh38]
Chr13:23905697 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8214A>G (p.Leu2738=) |
single nucleotide variant |
Spastic paraplegia [RCV002157656] |
Chr13:23335662 [GRCh38]
Chr13:23909801 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2185+8A>G |
single nucleotide variant |
Spastic paraplegia [RCV002099430] |
Chr13:23353777 [GRCh38]
Chr13:23927916 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4992C>T (p.Tyr1664=) |
single nucleotide variant |
Spastic paraplegia [RCV002176805] |
Chr13:23338884 [GRCh38]
Chr13:23913023 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003110486] |
Chr13:23330350 [GRCh38]
Chr13:23904489 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11323A>G (p.Ser3775Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003112368] |
Chr13:23332553 [GRCh38]
Chr13:23906692 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1029T>C (p.His343=) |
single nucleotide variant |
Spastic paraplegia [RCV003115174] |
Chr13:23355583 [GRCh38]
Chr13:23929722 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9637A>G (p.Ser3213Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003111872] |
Chr13:23334239 [GRCh38]
Chr13:23908378 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-15CT[4] |
microsatellite |
Spastic paraplegia [RCV003114705] |
Chr13:23375280..23375281 [GRCh38]
Chr13:23949419..23949420 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.457+14A>G |
single nucleotide variant |
Spastic paraplegia [RCV003114760] |
Chr13:23365152 [GRCh38]
Chr13:23939291 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1702G>A (p.Asp568Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003116982] |
Chr13:23354910 [GRCh38]
Chr13:23929049 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NC_000013.10:g.(?_23667335)_(24463459_?)dup |
duplication |
Spastic paraplegia [RCV003116464]|not provided [RCV003116465] |
Chr13:23667335..24463459 [GRCh37]
Chr13:13q12.12 |
uncertain significance|no classifications from unflagged records |
| NM_014363.6(SACS):c.3857C>T (p.Pro1286Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003116069] |
Chr13:23340019 [GRCh38]
Chr13:23914158 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8490G>C (p.Glu2830Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003112687] |
Chr13:23335386 [GRCh38]
Chr13:23909525 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9103T>G (p.Leu3035Val) |
single nucleotide variant |
Spastic paraplegia [RCV003112083] |
Chr13:23334773 [GRCh38]
Chr13:23908912 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.397T>C (p.Tyr133His) |
single nucleotide variant |
Spastic paraplegia [RCV003112737] |
Chr13:23365226 [GRCh38]
Chr13:23939365 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.597T>C (p.His199=) |
single nucleotide variant |
Spastic paraplegia [RCV003113941] |
Chr13:23358342 [GRCh38]
Chr13:23932481 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003112800] |
Chr13:23332168 [GRCh38]
Chr13:23906307 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1592T>C (p.Ile531Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003118150] |
Chr13:23355020 [GRCh38]
Chr13:23929159 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3970A>G (p.Ile1324Val) |
single nucleotide variant |
Spastic paraplegia [RCV003112838] |
Chr13:23339906 [GRCh38]
Chr13:23914045 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NC_000013.10:g.(?_23927914)_(23985388_?)del |
deletion |
Spastic paraplegia [RCV003116742] |
Chr13:23927914..23985388 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NC_000013.10:g.(?_23903991)_(23905304_?)del |
deletion |
Spastic paraplegia [RCV003116743] |
Chr13:23903991..23905304 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5747T>A (p.Val1916Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003112273] |
Chr13:23338129 [GRCh38]
Chr13:23912268 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7186A>G (p.Thr2396Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003117956] |
Chr13:23336690 [GRCh38]
Chr13:23910829 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003118494] |
Chr13:23337869 [GRCh38]
Chr13:23912008 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13353A>G (p.Leu4451=) |
single nucleotide variant |
Spastic paraplegia [RCV003121904] |
Chr13:23330523 [GRCh38]
Chr13:23904662 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13259G>T (p.Cys4420Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004244617]|Spastic paraplegia [RCV003121309] |
Chr13:23330617 [GRCh38]
Chr13:23904756 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.4893G>C (p.Leu1631Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003121343] |
Chr13:23338983 [GRCh38]
Chr13:23913122 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NC_000013.10:g.(?_23898487)_(24463459_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV003122207] |
Chr13:23898487..24463459 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NC_000013.10:g.(?_23777834)_(23985378_?)dup |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2C [RCV003122208] |
Chr13:23777834..23985378 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1252C>G (p.Pro418Ala) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003153031] |
Chr13:23355360 [GRCh38]
Chr13:23929499 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12442C>T (p.Pro4148Ser) |
single nucleotide variant |
See cases [RCV002252533] |
Chr13:23331434 [GRCh38]
Chr13:23905573 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13601del (p.Ser4533_Leu4534insTer) |
deletion |
not specified [RCV003231043] |
Chr13:23330275 [GRCh38]
Chr13:23904414 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13p13-q34(chr13:1-115169878) |
copy number gain |
Complete trisomy 13 syndrome [RCV002280659] |
Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34 |
pathogenic |
| NM_014363.6(SACS):c.8729A>G (p.Asn2910Ser) |
single nucleotide variant |
not provided [RCV002262414] |
Chr13:23335147 [GRCh38]
Chr13:23909286 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.520G>T (p.Glu174Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002266460] |
Chr13:23358419 [GRCh38]
Chr13:23932558 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11261del (p.Asn3754fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002289230] |
Chr13:23332615 [GRCh38]
Chr13:23906754 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.827G>A (p.Arg276His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002289231] |
Chr13:23355785 [GRCh38]
Chr13:23929924 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 |
copy number gain |
not provided [RCV002291540] |
Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34 |
pathogenic |
| NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003588791]|not provided [RCV002261950] |
Chr13:23331211 [GRCh38]
Chr13:23905350 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8009dup (p.Leu2670fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV002283632] |
Chr13:23335866..23335867 [GRCh38]
Chr13:23910005..23910006 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1636C>T (p.Gln546Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002288393] |
Chr13:23354976 [GRCh38]
Chr13:23929115 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002289200]|not provided [RCV003481274] |
Chr13:23339153 [GRCh38]
Chr13:23913292 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.2726G>T (p.Ser909Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002488656]|not provided [RCV002261952] |
Chr13:23341150 [GRCh38]
Chr13:23915289 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7990G>A (p.Gly2664Arg) |
single nucleotide variant |
not provided [RCV002262415] |
Chr13:23335886 [GRCh38]
Chr13:23910025 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003164389]|Spastic paraplegia [RCV003588792]|not specified [RCV002266459] |
Chr13:23337493 [GRCh38]
Chr13:23911632 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003289498]|Spastic paraplegia [RCV003096343]|not specified [RCV002282894] |
Chr13:23336713 [GRCh38]
Chr13:23910852 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13220G>A (p.Ser4407Asn) |
single nucleotide variant |
not provided [RCV002281314] |
Chr13:23330656 [GRCh38]
Chr13:23904795 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q12.12(chr13:23981973-24963501)x3 |
copy number gain |
See cases [RCV002287558] |
Chr13:23981973..24963501 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9844C>A (p.Pro3282Thr) |
single nucleotide variant |
not provided [RCV002260830] |
Chr13:23334032 [GRCh38]
Chr13:23908171 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003750883]|not specified [RCV002266458] |
Chr13:23337641 [GRCh38]
Chr13:23911780 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003101688]|not provided [RCV002292880] |
Chr13:23331430 [GRCh38]
Chr13:23905569 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.508C>T (p.His170Tyr) |
single nucleotide variant |
not provided [RCV002474385] |
Chr13:23358431 [GRCh38]
Chr13:23932570 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7367C>T (p.Thr2456Ile) |
single nucleotide variant |
not provided [RCV002474388] |
Chr13:23336509 [GRCh38]
Chr13:23910648 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1354C>T (p.Pro452Ser) |
single nucleotide variant |
not provided [RCV002474395] |
Chr13:23355258 [GRCh38]
Chr13:23929397 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12932C>A (p.Thr4311Lys) |
single nucleotide variant |
not provided [RCV002474399] |
Chr13:23330944 [GRCh38]
Chr13:23905083 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10291G>A (p.Val3431Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002569400]|not provided [RCV002474404] |
Chr13:23333585 [GRCh38]
Chr13:23907724 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr) |
single nucleotide variant |
not provided [RCV002474408] |
Chr13:23339041 [GRCh38]
Chr13:23913180 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11296G>A (p.Val3766Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004064264]|Spastic paraplegia [RCV002571522]|not provided [RCV002474411] |
Chr13:23332580 [GRCh38]
Chr13:23906719 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9603G>C (p.Leu3201Phe) |
single nucleotide variant |
not provided [RCV002474419] |
Chr13:23334273 [GRCh38]
Chr13:23908412 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003750933]|not provided [RCV002474148] |
Chr13:23339338 [GRCh38]
Chr13:23913477 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002571517]|not provided [RCV002474387] |
Chr13:23330266 [GRCh38]
Chr13:23904405 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1543C>T (p.Arg515Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002571518]|not provided [RCV002474393] |
Chr13:23355069 [GRCh38]
Chr13:23929208 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5935T>G (p.Phe1979Val) |
single nucleotide variant |
Spastic paraplegia [RCV002571519]|not provided [RCV002474394] |
Chr13:23337941 [GRCh38]
Chr13:23912080 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6149C>G (p.Thr2050Arg) |
single nucleotide variant |
not provided [RCV002474400] |
Chr13:23337727 [GRCh38]
Chr13:23911866 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003108122]|not provided [RCV002474403] |
Chr13:23340449 [GRCh38]
Chr13:23914588 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.8454G>T (p.Trp2818Cys) |
single nucleotide variant |
not provided [RCV002474409] |
Chr13:23335422 [GRCh38]
Chr13:23909561 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004064263]|not provided [RCV002474410] |
Chr13:23335813 [GRCh38]
Chr13:23909952 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002571523]|not provided [RCV002474412] |
Chr13:23331058 [GRCh38]
Chr13:23905197 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg) |
single nucleotide variant |
not provided [RCV002474389] |
Chr13:23330356 [GRCh38]
Chr13:23904495 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11139C>G (p.Pro3713=) |
single nucleotide variant |
not provided [RCV002474391] |
Chr13:23332737 [GRCh38]
Chr13:23906876 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2180C>G (p.Thr727Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002571520]|not provided [RCV002474396] |
Chr13:23353790 [GRCh38]
Chr13:23927929 [GRCh37]
Chr13:13q12.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014363.6(SACS):c.4546G>A (p.Ala1516Thr) |
single nucleotide variant |
not provided [RCV002474397] |
Chr13:23339330 [GRCh38]
Chr13:23913469 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5162C>T (p.Ser1721Phe) |
single nucleotide variant |
not provided [RCV002474398] |
Chr13:23338714 [GRCh38]
Chr13:23912853 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser) |
indel |
not provided [RCV002474401] |
Chr13:23368417..23368419 [GRCh38]
Chr13:23942556..23942558 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11137C>A (p.Pro3713Thr) |
single nucleotide variant |
not provided [RCV002474402] |
Chr13:23332739 [GRCh38]
Chr13:23906878 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002571521]|not provided [RCV002474407] |
Chr13:23330632 [GRCh38]
Chr13:23904771 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.394T>G (p.Leu132Val) |
single nucleotide variant |
Spastic paraplegia [RCV002574696]|not provided [RCV002474413] |
Chr13:23365229 [GRCh38]
Chr13:23939368 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.5668T>C (p.Phe1890Leu) |
single nucleotide variant |
not provided [RCV002474415] |
Chr13:23338208 [GRCh38]
Chr13:23912347 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2223A>T (p.Glu741Asp) |
single nucleotide variant |
not provided [RCV002474416] |
Chr13:23341653 [GRCh38]
Chr13:23915792 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002571524]|not provided [RCV002474417] |
Chr13:23334631 [GRCh38]
Chr13:23908770 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5615G>C (p.Cys1872Ser) |
single nucleotide variant |
not provided [RCV002474386] |
Chr13:23338261 [GRCh38]
Chr13:23912400 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.171+3A>G |
single nucleotide variant |
not provided [RCV002474392] |
Chr13:23375116 [GRCh38]
Chr13:23949255 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002574695]|not provided [RCV002474405] |
Chr13:23333110 [GRCh38]
Chr13:23907249 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2594A>C (p.Lys865Thr) |
single nucleotide variant |
not provided [RCV002474406] |
Chr13:23341282 [GRCh38]
Chr13:23915421 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002574697]|not provided [RCV002474414] |
Chr13:23338688 [GRCh38]
Chr13:23912827 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11889G>A (p.Met3963Ile) |
single nucleotide variant |
not provided [RCV002474418] |
Chr13:23331987 [GRCh38]
Chr13:23906126 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2888C>G (p.Ser963Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002470624] |
Chr13:23340988 [GRCh38]
Chr13:23915127 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.734A>T (p.Asp245Val) |
single nucleotide variant |
Myoepithelial tumor [RCV002463899] |
Chr13:23355878 [GRCh38]
Chr13:23930017 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3533G>C (p.Cys1178Ser) |
single nucleotide variant |
not provided [RCV003154350] |
Chr13:23340343 [GRCh38]
Chr13:23914482 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001274919]|Spastic paraplegia [RCV001858755]|not provided [RCV000992774] |
Chr13:23332575 [GRCh38]
Chr13:23906714 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001271969]|not provided [RCV000992781] |
Chr13:23353874 [GRCh38]
Chr13:23928013 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8451G>A (p.Thr2817=) |
single nucleotide variant |
Spastic paraplegia [RCV001396146]|not provided [RCV000992799] |
Chr13:23335425 [GRCh38]
Chr13:23909564 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.475T>C (p.Tyr159His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001836169]|Inborn genetic diseases [RCV003294062]|Spastic paraplegia [RCV001221388] |
Chr13:23358464 [GRCh38]
Chr13:23932603 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1 |
copy number loss |
not provided [RCV001006544] |
Chr13:19436286..24970361 [GRCh37]
Chr13:13q11-12.12 |
pathogenic |
| NM_014363.6(SACS):c.11886A>G (p.Ile3962Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001832844]|not provided [RCV001663546] |
Chr13:23331990 [GRCh38]
Chr13:23906129 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu) |
single nucleotide variant |
not provided [RCV001663548] |
Chr13:23330838 [GRCh38]
Chr13:23904977 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2593A>T (p.Lys865Ter) |
single nucleotide variant |
not provided [RCV001663552] |
Chr13:23341283 [GRCh38]
Chr13:23915422 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| GRCh37/hg19 13q12.11-12.13(chr13:22423865-25504992)x3 |
copy number gain |
not provided [RCV001270639] |
Chr13:22423865..25504992 [GRCh37]
Chr13:13q12.11-12.13 |
uncertain significance |
| NM_014363.6(SACS):c.7614A>G (p.Ala2538=) |
single nucleotide variant |
Spastic paraplegia [RCV001421930] |
Chr13:23336262 [GRCh38]
Chr13:23910401 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9043A>G (p.Ile3015Val) |
single nucleotide variant |
not provided [RCV001726896] |
Chr13:23334833 [GRCh38]
Chr13:23908972 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5102A>T (p.Glu1701Val) |
single nucleotide variant |
not provided [RCV001755063] |
Chr13:23338774 [GRCh38]
Chr13:23912913 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) |
single nucleotide variant |
Spastic paraplegia [RCV003772018]|not provided [RCV001755062] |
Chr13:23336570 [GRCh38]
Chr13:23910709 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV001783709] |
Chr13:23338184 [GRCh38]
Chr13:23912323 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002488511]|Spastic paraplegia [RCV002543940]|not provided [RCV001756657] |
Chr13:23334071 [GRCh38]
Chr13:23908210 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11337C>T (p.Phe3779=) |
single nucleotide variant |
Spastic paraplegia [RCV002182122] |
Chr13:23332539 [GRCh38]
Chr13:23906678 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+10_345+11del |
deletion |
Spastic paraplegia [RCV002181336] |
Chr13:23368391..23368392 [GRCh38]
Chr13:23942530..23942531 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003152887]|Spastic paraplegia [RCV003750943] |
Chr13:23334656..23334657 [GRCh38]
Chr13:23908795..23908796 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002471600]|Inborn genetic diseases [RCV002571457]|Spastic paraplegia [RCV003111572] |
Chr13:23331199..23331203 [GRCh38]
Chr13:23905338..23905342 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1105_1106del (p.Thr369fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002308007] |
Chr13:23355506..23355507 [GRCh38]
Chr13:23929645..23929646 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002303653] |
Chr13:23334268 [GRCh38]
Chr13:23908407 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV002309095] |
Chr13:23375263..23375265 [GRCh38]
Chr13:23949402..23949404 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002305692] |
Chr13:23338942 [GRCh38]
Chr13:23913081 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1437G>A (p.Trp479Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002309654] |
Chr13:23355175 [GRCh38]
Chr13:23929314 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1807A>T (p.Lys603Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002306456] |
Chr13:23354805 [GRCh38]
Chr13:23928944 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.529A>T (p.Arg177Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002310305] |
Chr13:23358410 [GRCh38]
Chr13:23932549 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1126_1127del (p.Asn376fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002310272] |
Chr13:23355485..23355486 [GRCh38]
Chr13:23929624..23929625 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.542del (p.Lys181fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002309947] |
Chr13:23358397 [GRCh38]
Chr13:23932536 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9970C>G (p.Leu3324Val) |
single nucleotide variant |
not provided [RCV002306082] |
Chr13:23333906 [GRCh38]
Chr13:23908045 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1929T>A (p.Cys643Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002310335] |
Chr13:23354683 [GRCh38]
Chr13:23928822 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1968_1969del (p.Asp657fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002310490] |
Chr13:23354643..23354644 [GRCh38]
Chr13:23928782..23928783 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.622_640del (p.Ser208fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002306868] |
Chr13:23355972..23355990 [GRCh38]
Chr13:23930111..23930129 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8300G>A (p.Gly2767Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002299129] |
Chr13:23335576 [GRCh38]
Chr13:23909715 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV002307218] |
Chr13:23355042..23355043 [GRCh38]
Chr13:23929181..23929182 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1178T>A (p.Leu393Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002307885] |
Chr13:23355434 [GRCh38]
Chr13:23929573 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.998_999del (p.Val333fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002307953] |
Chr13:23355613..23355614 [GRCh38]
Chr13:23929752..23929753 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.343A>T (p.Lys115Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002306974] |
Chr13:23368404 [GRCh38]
Chr13:23942543 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.563_564del (p.Gly188fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002307329] |
Chr13:23358375..23358376 [GRCh38]
Chr13:23932514..23932515 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV002309327] |
Chr13:23355717..23355720 [GRCh38]
Chr13:23929856..23929859 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1455G>A (p.Trp485Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002309096] |
Chr13:23355157 [GRCh38]
Chr13:23929296 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1716_1717del (p.Glu573fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002309552] |
Chr13:23354895..23354896 [GRCh38]
Chr13:23929034..23929035 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.579del (p.Phe194fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002309883] |
Chr13:23358360 [GRCh38]
Chr13:23932499 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV002307933] |
Chr13:23371144..23371145 [GRCh38]
Chr13:23945283..23945284 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.884T>A (p.Leu295Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002309741] |
Chr13:23355728 [GRCh38]
Chr13:23929867 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.554_555del (p.Leu185fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002310072] |
Chr13:23358384..23358385 [GRCh38]
Chr13:23932523..23932524 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.497del (p.Pro166fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002308283] |
Chr13:23358442 [GRCh38]
Chr13:23932581 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV002308366] |
Chr13:23354772..23354773 [GRCh38]
Chr13:23928911..23928912 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.742_743del (p.Ala248fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV002310427] |
Chr13:23355869..23355870 [GRCh38]
Chr13:23930008..23930009 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8034C>T (p.Phe2678=) |
single nucleotide variant |
Spastic paraplegia [RCV002615254] |
Chr13:23335842 [GRCh38]
Chr13:23909981 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-16C>T |
single nucleotide variant |
Spastic paraplegia [RCV002994924] |
Chr13:23375285 [GRCh38]
Chr13:23949424 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2817C>G (p.Ser939=) |
single nucleotide variant |
Spastic paraplegia [RCV002862637] |
Chr13:23341059 [GRCh38]
Chr13:23915198 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4651G>A (p.Asp1551Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003015496] |
Chr13:23339225 [GRCh38]
Chr13:23913364 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7016A>G (p.Asp2339Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003074528] |
Chr13:23336860 [GRCh38]
Chr13:23910999 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.459G>T (p.Gly153=) |
single nucleotide variant |
Spastic paraplegia [RCV002993749] |
Chr13:23358480 [GRCh38]
Chr13:23932619 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4489A>G (p.Ile1497Val) |
single nucleotide variant |
Spastic paraplegia [RCV003074383] |
Chr13:23339387 [GRCh38]
Chr13:23913526 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7107A>C (p.Pro2369=) |
single nucleotide variant |
Spastic paraplegia [RCV002751133] |
Chr13:23336769 [GRCh38]
Chr13:23910908 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4473A>G (p.Thr1491=) |
single nucleotide variant |
Spastic paraplegia [RCV002862934] |
Chr13:23339403 [GRCh38]
Chr13:23913542 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12789C>A (p.Thr4263=) |
single nucleotide variant |
Spastic paraplegia [RCV002681886] |
Chr13:23331087 [GRCh38]
Chr13:23905226 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002685705] |
Chr13:23338254 [GRCh38]
Chr13:23912393 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12492T>A (p.Ile4164=) |
single nucleotide variant |
Spastic paraplegia [RCV002862027] |
Chr13:23331384 [GRCh38]
Chr13:23905523 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002995244] |
Chr13:23334271 [GRCh38]
Chr13:23908410 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.877C>A (p.Leu293Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002906231] |
Chr13:23355735 [GRCh38]
Chr13:23929874 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5684A>G (p.Asn1895Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003095825] |
Chr13:23338192 [GRCh38]
Chr13:23912331 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4221C>T (p.Asp1407=) |
single nucleotide variant |
Spastic paraplegia [RCV002863378] |
Chr13:23339655 [GRCh38]
Chr13:23913794 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10566A>C (p.Glu3522Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002970650] |
Chr13:23333310 [GRCh38]
Chr13:23907449 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4671T>C (p.Gly1557=) |
single nucleotide variant |
Spastic paraplegia [RCV002863006] |
Chr13:23339205 [GRCh38]
Chr13:23913344 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7725A>G (p.Ile2575Met) |
single nucleotide variant |
Spastic paraplegia [RCV002995625] |
Chr13:23336151 [GRCh38]
Chr13:23910290 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.7079C>A (p.Ser2360Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002995629] |
Chr13:23336797 [GRCh38]
Chr13:23910936 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9462C>G (p.Pro3154=) |
single nucleotide variant |
Spastic paraplegia [RCV002750274] |
Chr13:23334414 [GRCh38]
Chr13:23908553 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11500A>G (p.Thr3834Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002839480] |
Chr13:23332376 [GRCh38]
Chr13:23906515 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12842C>G (p.Ser4281Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002683128] |
Chr13:23331034 [GRCh38]
Chr13:23905173 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1189A>G (p.Ser397Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002903968] |
Chr13:23355423 [GRCh38]
Chr13:23929562 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12780T>C (p.Ser4260=) |
single nucleotide variant |
Spastic paraplegia [RCV002838718] |
Chr13:23331096 [GRCh38]
Chr13:23905235 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12175G>A (p.Val4059Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002903476] |
Chr13:23331701 [GRCh38]
Chr13:23905840 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10374C>T (p.His3458=) |
single nucleotide variant |
Spastic paraplegia [RCV002730067] |
Chr13:23333502 [GRCh38]
Chr13:23907641 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2428del (p.Glu810fs) |
deletion |
Spastic paraplegia [RCV002815253] |
Chr13:23341448 [GRCh38]
Chr13:23915587 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3691G>C (p.Val1231Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002727200] |
Chr13:23340185 [GRCh38]
Chr13:23914324 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13646A>G (p.Asn4549Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002993279] |
Chr13:23330230 [GRCh38]
Chr13:23904369 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11693A>G (p.Asp3898Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002685704] |
Chr13:23332183 [GRCh38]
Chr13:23906322 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12677A>T (p.Gln4226Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002615240] |
Chr13:23331199 [GRCh38]
Chr13:23905338 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.7353A>G (p.Ile2451Met) |
single nucleotide variant |
Spastic paraplegia [RCV003074873] |
Chr13:23336523 [GRCh38]
Chr13:23910662 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.784A>G (p.Ile262Val) |
single nucleotide variant |
Spastic paraplegia [RCV002774849] |
Chr13:23355828 [GRCh38]
Chr13:23929967 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12885C>G (p.Pro4295=) |
single nucleotide variant |
Spastic paraplegia [RCV003013735] |
Chr13:23330991 [GRCh38]
Chr13:23905130 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6510A>G (p.Val2170=) |
single nucleotide variant |
Spastic paraplegia [RCV002616940] |
Chr13:23337366 [GRCh38]
Chr13:23911505 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4491T>G (p.Ile1497Met) |
single nucleotide variant |
Spastic paraplegia [RCV002615318] |
Chr13:23339385 [GRCh38]
Chr13:23913524 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5163del (p.Ala1723fs) |
deletion |
Spastic paraplegia [RCV002843514] |
Chr13:23338713 [GRCh38]
Chr13:23912852 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8583T>C (p.Tyr2861=) |
single nucleotide variant |
Spastic paraplegia [RCV003076982] |
Chr13:23335293 [GRCh38]
Chr13:23909432 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11482C>T (p.Leu3828=) |
single nucleotide variant |
Spastic paraplegia [RCV003075832] |
Chr13:23332394 [GRCh38]
Chr13:23906533 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.840A>C (p.Ser280=) |
single nucleotide variant |
Spastic paraplegia [RCV003016692] |
Chr13:23355772 [GRCh38]
Chr13:23929911 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn) |
indel |
Spastic paraplegia [RCV002690298] |
Chr13:23330941..23330942 [GRCh38]
Chr13:23905080..23905081 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4891T>C (p.Leu1631=) |
single nucleotide variant |
Spastic paraplegia [RCV003076855] |
Chr13:23338985 [GRCh38]
Chr13:23913124 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11406T>C (p.Gly3802=) |
single nucleotide variant |
Spastic paraplegia [RCV002618589] |
Chr13:23332470 [GRCh38]
Chr13:23906609 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8841C>G (p.Thr2947=) |
single nucleotide variant |
Spastic paraplegia [RCV002863634] |
Chr13:23335035 [GRCh38]
Chr13:23909174 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11402A>G (p.Asp3801Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003016928] |
Chr13:23332474 [GRCh38]
Chr13:23906613 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12173G>A (p.Arg4058Lys) |
single nucleotide variant |
not provided [RCV002462543] |
Chr13:23331703 [GRCh38]
Chr13:23905842 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10949del (p.Ser3649_Leu3650insTer) |
deletion |
Spastic paraplegia [RCV002909026] |
Chr13:23332927 [GRCh38]
Chr13:23907066 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.426T>C (p.Thr142=) |
single nucleotide variant |
Spastic paraplegia [RCV002909120] |
Chr13:23365197 [GRCh38]
Chr13:23939336 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13295T>C (p.Phe4432Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002840791] |
Chr13:23330581 [GRCh38]
Chr13:23904720 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11575C>T (p.Arg3859Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004064647]|Spastic paraplegia [RCV002795027] |
Chr13:23332301 [GRCh38]
Chr13:23906440 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3991C>A (p.His1331Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003077010] |
Chr13:23339885 [GRCh38]
Chr13:23914024 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2826A>C (p.Thr942=) |
single nucleotide variant |
Spastic paraplegia [RCV002681707] |
Chr13:23341050 [GRCh38]
Chr13:23915189 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11271C>T (p.Asn3757=) |
single nucleotide variant |
Spastic paraplegia [RCV002995446] |
Chr13:23332605 [GRCh38]
Chr13:23906744 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12328A>G (p.Thr4110Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002996361] |
Chr13:23331548 [GRCh38]
Chr13:23905687 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.12465G>C (p.Met4155Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002794539] |
Chr13:23331411 [GRCh38]
Chr13:23905550 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1546C>G (p.Leu516Val) |
single nucleotide variant |
Spastic paraplegia [RCV003095636] |
Chr13:23355066 [GRCh38]
Chr13:23929205 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.8395G>C (p.Val2799Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002731562] |
Chr13:23335481 [GRCh38]
Chr13:23909620 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2759T>C (p.Ile920Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003034524] |
Chr13:23341117 [GRCh38]
Chr13:23915256 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7587C>T (p.Thr2529=) |
single nucleotide variant |
Spastic paraplegia [RCV002690333] |
Chr13:23336289 [GRCh38]
Chr13:23910428 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3832del (p.Val1278fs) |
deletion |
Spastic paraplegia [RCV002866056] |
Chr13:23340044 [GRCh38]
Chr13:23914183 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10266C>T (p.Ser3422=) |
single nucleotide variant |
Spastic paraplegia [RCV002838640] |
Chr13:23333610 [GRCh38]
Chr13:23907749 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6422A>G (p.Asn2141Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002975603] |
Chr13:23337454 [GRCh38]
Chr13:23911593 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8232G>A (p.Met2744Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002750408] |
Chr13:23335644 [GRCh38]
Chr13:23909783 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11926A>C (p.Ser3976Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002778382] |
Chr13:23331950 [GRCh38]
Chr13:23906089 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2900T>C (p.Ile967Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002613412] |
Chr13:23340976 [GRCh38]
Chr13:23915115 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6337T>C (p.Leu2113=) |
single nucleotide variant |
Spastic paraplegia [RCV002863383] |
Chr13:23337539 [GRCh38]
Chr13:23911678 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.674A>G (p.His225Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002908429] |
Chr13:23355938 [GRCh38]
Chr13:23930077 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6164A>G (p.Gln2055Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003076720] |
Chr13:23337712 [GRCh38]
Chr13:23911851 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1654C>G (p.Leu552Val) |
single nucleotide variant |
Spastic paraplegia [RCV002756210] |
Chr13:23354958 [GRCh38]
Chr13:23929097 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12315T>G (p.Thr4105=) |
single nucleotide variant |
Spastic paraplegia [RCV002794963] |
Chr13:23331561 [GRCh38]
Chr13:23905700 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4539del (p.Met1514fs) |
deletion |
Spastic paraplegia [RCV002755108] |
Chr13:23339337 [GRCh38]
Chr13:23913476 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6011T>C (p.Val2004Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002996165] |
Chr13:23337865 [GRCh38]
Chr13:23912004 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1363G>A (p.Glu455Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002882351]|Spastic paraplegia [RCV003588853] |
Chr13:23355249 [GRCh38]
Chr13:23929388 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5178A>C (p.Thr1726=) |
single nucleotide variant |
Spastic paraplegia [RCV002819474] |
Chr13:23338698 [GRCh38]
Chr13:23912837 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13422C>T (p.Cys4474=) |
single nucleotide variant |
Spastic paraplegia [RCV002908242] |
Chr13:23330454 [GRCh38]
Chr13:23904593 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3504A>C (p.Pro1168=) |
single nucleotide variant |
Spastic paraplegia [RCV002771201] |
Chr13:23340372 [GRCh38]
Chr13:23914511 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1510G>A (p.Ala504Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003013772] |
Chr13:23355102 [GRCh38]
Chr13:23929241 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7389T>C (p.Ala2463=) |
single nucleotide variant |
Spastic paraplegia [RCV002816196] |
Chr13:23336487 [GRCh38]
Chr13:23910626 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11127G>A (p.Glu3709=) |
single nucleotide variant |
Spastic paraplegia [RCV002755075] |
Chr13:23332749 [GRCh38]
Chr13:23906888 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3492T>C (p.Pro1164=) |
single nucleotide variant |
Spastic paraplegia [RCV003076442] |
Chr13:23340384 [GRCh38]
Chr13:23914523 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2240T>C (p.Ile747Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002967703] |
Chr13:23341636 [GRCh38]
Chr13:23915775 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4501A>C (p.Arg1501=) |
single nucleotide variant |
Spastic paraplegia [RCV002730482] |
Chr13:23339375 [GRCh38]
Chr13:23913514 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.24G>A (p.Trp8Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002994432] |
Chr13:23375266 [GRCh38]
Chr13:23949405 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9238T>C (p.Tyr3080His) |
single nucleotide variant |
Spastic paraplegia [RCV003075089] |
Chr13:23334638 [GRCh38]
Chr13:23908777 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11976T>G (p.Phe3992Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002859675] |
Chr13:23331900 [GRCh38]
Chr13:23906039 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4904C>T (p.Ala1635Val) |
single nucleotide variant |
Spastic paraplegia [RCV003073971] |
Chr13:23338972 [GRCh38]
Chr13:23913111 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3840T>G (p.Thr1280=) |
single nucleotide variant |
Spastic paraplegia [RCV002816269] |
Chr13:23340036 [GRCh38]
Chr13:23914175 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3486A>G (p.Glu1162=) |
single nucleotide variant |
Spastic paraplegia [RCV002837474] |
Chr13:23340390 [GRCh38]
Chr13:23914529 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3886C>G (p.His1296Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002861307] |
Chr13:23339990 [GRCh38]
Chr13:23914129 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8199T>C (p.Asp2733=) |
single nucleotide variant |
Spastic paraplegia [RCV002815239] |
Chr13:23335677 [GRCh38]
Chr13:23909816 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2066T>C (p.Ile689Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002861454] |
Chr13:23354546 [GRCh38]
Chr13:23928685 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5470A>G (p.Met1824Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002729506] |
Chr13:23338406 [GRCh38]
Chr13:23912545 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10219C>G (p.Leu3407Val) |
single nucleotide variant |
Spastic paraplegia [RCV002995338] |
Chr13:23333657 [GRCh38]
Chr13:23907796 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6666A>C (p.Pro2222=) |
single nucleotide variant |
Spastic paraplegia [RCV002837568] |
Chr13:23337210 [GRCh38]
Chr13:23911349 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7185C>G (p.Cys2395Trp) |
single nucleotide variant |
Spastic paraplegia [RCV002815903] |
Chr13:23336691 [GRCh38]
Chr13:23910830 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12885C>T (p.Pro4295=) |
single nucleotide variant |
Spastic paraplegia [RCV002995943] |
Chr13:23330991 [GRCh38]
Chr13:23905130 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12640G>A (p.Asp4214Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002775771] |
Chr13:23331236 [GRCh38]
Chr13:23905375 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12710_12713del (p.Val4237fs) |
deletion |
Spastic paraplegia [RCV003016489] |
Chr13:23331163..23331166 [GRCh38]
Chr13:23905302..23905305 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11623C>T (p.Arg3875Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002687041] |
Chr13:23332253 [GRCh38]
Chr13:23906392 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9828A>T (p.Lys3276Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002616259] |
Chr13:23334048 [GRCh38]
Chr13:23908187 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9482G>A (p.Ser3161Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002859948] |
Chr13:23334394 [GRCh38]
Chr13:23908533 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3641G>A (p.Gly1214Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002750813] |
Chr13:23340235 [GRCh38]
Chr13:23914374 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9212A>G (p.Tyr3071Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003015986] |
Chr13:23334664 [GRCh38]
Chr13:23908803 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6822_6833del (p.Ser2275_Val2278del) |
deletion |
Spastic paraplegia [RCV002838440] |
Chr13:23337043..23337054 [GRCh38]
Chr13:23911182..23911193 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5541G>A (p.Gly1847=) |
single nucleotide variant |
Spastic paraplegia [RCV002775544] |
Chr13:23338335 [GRCh38]
Chr13:23912474 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6546C>T (p.Cys2182=) |
single nucleotide variant |
Spastic paraplegia [RCV003095489] |
Chr13:23337330 [GRCh38]
Chr13:23911469 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13597A>G (p.Ser4533Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002996021] |
Chr13:23330279 [GRCh38]
Chr13:23904418 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5700G>A (p.Trp1900Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003097541] |
Chr13:23338176 [GRCh38]
Chr13:23912315 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7662T>C (p.Asp2554=) |
single nucleotide variant |
Spastic paraplegia [RCV003014644] |
Chr13:23336214 [GRCh38]
Chr13:23910353 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11739T>C (p.Asp3913=) |
single nucleotide variant |
Spastic paraplegia [RCV002730863] |
Chr13:23332137 [GRCh38]
Chr13:23906276 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6953C>T (p.Ala2318Val) |
single nucleotide variant |
Spastic paraplegia [RCV002994010] |
Chr13:23336923 [GRCh38]
Chr13:23911062 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11272A>G (p.Ile3758Val) |
single nucleotide variant |
Spastic paraplegia [RCV002971373] |
Chr13:23332604 [GRCh38]
Chr13:23906743 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3195T>C (p.Phe1065=) |
single nucleotide variant |
Spastic paraplegia [RCV002994156] |
Chr13:23340681 [GRCh38]
Chr13:23914820 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4114C>A (p.Pro1372Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003377824]|Spastic paraplegia [RCV002972363] |
Chr13:23339762 [GRCh38]
Chr13:23913901 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.7516_7522dup (p.Arg2508fs) |
duplication |
Spastic paraplegia [RCV002881058] |
Chr13:23336353..23336354 [GRCh38]
Chr13:23910492..23910493 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7070A>G (p.Glu2357Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002613493] |
Chr13:23336806 [GRCh38]
Chr13:23910945 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8074C>A (p.Leu2692Met) |
single nucleotide variant |
Spastic paraplegia [RCV002858074] |
Chr13:23335802 [GRCh38]
Chr13:23909941 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3443A>G (p.Lys1148Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002996054] |
Chr13:23340433 [GRCh38]
Chr13:23914572 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10765A>G (p.Ile3589Val) |
single nucleotide variant |
Spastic paraplegia [RCV002882120]|not provided [RCV003482422] |
Chr13:23333111 [GRCh38]
Chr13:23907250 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1393A>G (p.Ser465Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003012483] |
Chr13:23355219 [GRCh38]
Chr13:23929358 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8169C>G (p.Val2723=) |
single nucleotide variant |
Spastic paraplegia [RCV003011611] |
Chr13:23335707 [GRCh38]
Chr13:23909846 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4139C>G (p.Pro1380Arg) |
single nucleotide variant |
not provided [RCV002511232] |
Chr13:23339737 [GRCh38]
Chr13:23913876 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11877T>C (p.Thr3959=) |
single nucleotide variant |
Spastic paraplegia [RCV002972257] |
Chr13:23331999 [GRCh38]
Chr13:23906138 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5301del (p.His1768fs) |
deletion |
Spastic paraplegia [RCV002857970] |
Chr13:23338575 [GRCh38]
Chr13:23912714 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12894T>G (p.Leu4298=) |
single nucleotide variant |
Spastic paraplegia [RCV002862781] |
Chr13:23330982 [GRCh38]
Chr13:23905121 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8623T>C (p.Leu2875=) |
single nucleotide variant |
Spastic paraplegia [RCV002843091] |
Chr13:23335253 [GRCh38]
Chr13:23909392 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10683T>C (p.Asp3561=) |
single nucleotide variant |
Spastic paraplegia [RCV003099041] |
Chr13:23333193 [GRCh38]
Chr13:23907332 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3963T>C (p.Cys1321=) |
single nucleotide variant |
Spastic paraplegia [RCV002967559] |
Chr13:23339913 [GRCh38]
Chr13:23914052 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1369A>G (p.Ser457Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002615201] |
Chr13:23355243 [GRCh38]
Chr13:23929382 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1617C>T (p.Ser539=) |
single nucleotide variant |
Spastic paraplegia [RCV003016987] |
Chr13:23354995 [GRCh38]
Chr13:23929134 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13414dup (p.Trp4472fs) |
duplication |
Spastic paraplegia [RCV002858138] |
Chr13:23330461..23330462 [GRCh38]
Chr13:23904600..23904601 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2186-15G>A |
single nucleotide variant |
Spastic paraplegia [RCV002907832] |
Chr13:23341705 [GRCh38]
Chr13:23915844 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.7816A>C (p.Asn2606His) |
single nucleotide variant |
not provided [RCV002462677] |
Chr13:23336060 [GRCh38]
Chr13:23910199 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10548A>G (p.Gln3516=) |
single nucleotide variant |
Spastic paraplegia [RCV003013183] |
Chr13:23333328 [GRCh38]
Chr13:23907467 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11865T>C (p.His3955=) |
single nucleotide variant |
Spastic paraplegia [RCV003076313] |
Chr13:23332011 [GRCh38]
Chr13:23906150 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13723A>T (p.Met4575Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003075454] |
Chr13:23330153 [GRCh38]
Chr13:23904292 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8823A>G (p.Leu2941=) |
single nucleotide variant |
Spastic paraplegia [RCV002863655] |
Chr13:23335053 [GRCh38]
Chr13:23909192 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10800G>C (p.Leu3600Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003075525] |
Chr13:23333076 [GRCh38]
Chr13:23907215 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003076127] |
Chr13:23337421 [GRCh38]
Chr13:23911560 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2851C>T (p.His951Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003075552] |
Chr13:23341025 [GRCh38]
Chr13:23915164 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11227C>T (p.Pro3743Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002996926] |
Chr13:23332649 [GRCh38]
Chr13:23906788 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5203G>A (p.Ala1735Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003077412] |
Chr13:23338673 [GRCh38]
Chr13:23912812 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1853C>T (p.Ser618Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002620472]|Spastic paraplegia [RCV002620471] |
Chr13:23354759 [GRCh38]
Chr13:23928898 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9594T>C (p.Asn3198=) |
single nucleotide variant |
Spastic paraplegia [RCV002569776] |
Chr13:23334282 [GRCh38]
Chr13:23908421 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7455T>C (p.His2485=) |
single nucleotide variant |
Spastic paraplegia [RCV002889810] |
Chr13:23336421 [GRCh38]
Chr13:23910560 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8385dup (p.Asp2796fs) |
duplication |
Spastic paraplegia [RCV002871414] |
Chr13:23335490..23335491 [GRCh38]
Chr13:23909629..23909630 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8264del (p.Ser2755fs) |
deletion |
Spastic paraplegia [RCV003039514] |
Chr13:23335612 [GRCh38]
Chr13:23909751 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2149C>T (p.Leu717Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002800546] |
Chr13:23353821 [GRCh38]
Chr13:23927960 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3798G>T (p.Gly1266=) |
single nucleotide variant |
Spastic paraplegia [RCV003039635] |
Chr13:23340078 [GRCh38]
Chr13:23914217 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3814G>A (p.Ala1272Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002785860] |
Chr13:23340062 [GRCh38]
Chr13:23914201 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11335T>A (p.Phe3779Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002820578] |
Chr13:23332541 [GRCh38]
Chr13:23906680 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6281T>A (p.Val2094Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003078817] |
Chr13:23337595 [GRCh38]
Chr13:23911734 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5522T>C (p.Leu1841Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002913145] |
Chr13:23338354 [GRCh38]
Chr13:23912493 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.687A>G (p.Gln229=) |
single nucleotide variant |
Spastic paraplegia [RCV002889621] |
Chr13:23355925 [GRCh38]
Chr13:23930064 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4606G>A (p.Val1536Met) |
single nucleotide variant |
Spastic paraplegia [RCV002662957] |
Chr13:23339270 [GRCh38]
Chr13:23913409 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5984A>T (p.Asp1995Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002707346] |
Chr13:23337892 [GRCh38]
Chr13:23912031 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6994A>G (p.Ile2332Val) |
single nucleotide variant |
Spastic paraplegia [RCV002998699] |
Chr13:23336882 [GRCh38]
Chr13:23911021 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6139C>A (p.Leu2047Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002797969] |
Chr13:23337737 [GRCh38]
Chr13:23911876 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6204T>A (p.Ile2068=) |
single nucleotide variant |
Spastic paraplegia [RCV003081570] |
Chr13:23337672 [GRCh38]
Chr13:23911811 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7321C>T (p.Gln2441Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002846501] |
Chr13:23336555 [GRCh38]
Chr13:23910694 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10079del (p.Ser3360fs) |
deletion |
Spastic paraplegia [RCV003055541] |
Chr13:23333797 [GRCh38]
Chr13:23907936 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6585A>T (p.Lys2195Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002640539] |
Chr13:23337291 [GRCh38]
Chr13:23911430 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2043A>G (p.Ser681=) |
single nucleotide variant |
Spastic paraplegia [RCV002953319] |
Chr13:23354569 [GRCh38]
Chr13:23928708 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.20+7G>T |
single nucleotide variant |
Spastic paraplegia [RCV002590763] |
Chr13:23411213 [GRCh38]
Chr13:23985352 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9807C>T (p.Asp3269=) |
single nucleotide variant |
Spastic paraplegia [RCV003081169] |
Chr13:23334069 [GRCh38]
Chr13:23908208 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8448T>C (p.Thr2816=) |
single nucleotide variant |
Spastic paraplegia [RCV003055209] |
Chr13:23335428 [GRCh38]
Chr13:23909567 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3730G>C (p.Asp1244His) |
single nucleotide variant |
Inborn genetic diseases [RCV002707772] |
Chr13:23340146 [GRCh38]
Chr13:23914285 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3396A>T (p.Leu1132Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002640284] |
Chr13:23340480 [GRCh38]
Chr13:23914619 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8251del (p.Glu2751fs) |
deletion |
Spastic paraplegia [RCV002638070] |
Chr13:23335625 [GRCh38]
Chr13:23909764 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13025C>T (p.Pro4342Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002620762] |
Chr13:23330851 [GRCh38]
Chr13:23904990 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2382G>A (p.Leu794=) |
single nucleotide variant |
Spastic paraplegia [RCV002952695] |
Chr13:23341494 [GRCh38]
Chr13:23915633 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13530G>A (p.Glu4510=) |
single nucleotide variant |
Spastic paraplegia [RCV002695272] |
Chr13:23330346 [GRCh38]
Chr13:23904485 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11039T>C (p.Ile3680Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002953643] |
Chr13:23332837 [GRCh38]
Chr13:23906976 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9087T>C (p.Asn3029=) |
single nucleotide variant |
Spastic paraplegia [RCV002696337] |
Chr13:23334789 [GRCh38]
Chr13:23908928 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12650A>G (p.Asn4217Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002825517] |
Chr13:23331226 [GRCh38]
Chr13:23905365 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4003G>A (p.Val1335Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002800050] |
Chr13:23339873 [GRCh38]
Chr13:23914012 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1173T>G (p.Ser391=) |
single nucleotide variant |
Spastic paraplegia [RCV002663172] |
Chr13:23355439 [GRCh38]
Chr13:23929578 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1642G>A (p.Val548Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002868784] |
Chr13:23354970 [GRCh38]
Chr13:23929109 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.879T>C (p.Leu293=) |
single nucleotide variant |
Spastic paraplegia [RCV003038656] |
Chr13:23355733 [GRCh38]
Chr13:23929872 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.906T>G (p.Asp302Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003081290] |
Chr13:23355706 [GRCh38]
Chr13:23929845 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1123G>A (p.Val375Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002640318] |
Chr13:23355489 [GRCh38]
Chr13:23929628 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.8992G>C (p.Ala2998Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002640187] |
Chr13:23334884 [GRCh38]
Chr13:23909023 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2996T>G (p.Ile999Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002825494] |
Chr13:23340880 [GRCh38]
Chr13:23915019 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2664G>A (p.Leu888=) |
single nucleotide variant |
Spastic paraplegia [RCV002785221] |
Chr13:23341212 [GRCh38]
Chr13:23915351 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.720T>C (p.Ile240=) |
single nucleotide variant |
Spastic paraplegia [RCV003081296] |
Chr13:23355892 [GRCh38]
Chr13:23930031 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7491A>C (p.Gly2497=) |
single nucleotide variant |
Spastic paraplegia [RCV002662862] |
Chr13:23336385 [GRCh38]
Chr13:23910524 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9543T>A (p.Ile3181=) |
single nucleotide variant |
Spastic paraplegia [RCV002927987] |
Chr13:23334333 [GRCh38]
Chr13:23908472 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002593064] |
Chr13:23340506 [GRCh38]
Chr13:23914645 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2094-10C>G |
single nucleotide variant |
Spastic paraplegia [RCV003002851] |
Chr13:23353886 [GRCh38]
Chr13:23928025 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.554T>G (p.Leu185Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002914386] |
Chr13:23358385 [GRCh38]
Chr13:23932524 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10884T>C (p.Leu3628=) |
single nucleotide variant |
Spastic paraplegia [RCV002800328] |
Chr13:23332992 [GRCh38]
Chr13:23907131 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12875A>C (p.His4292Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003019926] |
Chr13:23331001 [GRCh38]
Chr13:23905140 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1830T>C (p.Ala610=) |
single nucleotide variant |
Spastic paraplegia [RCV002823719] |
Chr13:23354782 [GRCh38]
Chr13:23928921 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2573C>T (p.Ser858Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002621555] |
Chr13:23341303 [GRCh38]
Chr13:23915442 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11375G>A (p.Arg3792Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002979438] |
Chr13:23332501 [GRCh38]
Chr13:23906640 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4875T>C (p.Phe1625=) |
single nucleotide variant |
Spastic paraplegia [RCV002736261] |
Chr13:23339001 [GRCh38]
Chr13:23913140 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1037C>T (p.Pro346Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002637904] |
Chr13:23355575 [GRCh38]
Chr13:23929714 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9938C>T (p.Pro3313Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002846418] |
Chr13:23333938 [GRCh38]
Chr13:23908077 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002923131]|not provided [RCV003482428] |
Chr13:23330560 [GRCh38]
Chr13:23904699 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.12807C>T (p.Leu4269=) |
single nucleotide variant |
Spastic paraplegia [RCV003078081] |
Chr13:23331069 [GRCh38]
Chr13:23905208 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.124A>G (p.Thr42Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002948502] |
Chr13:23375166 [GRCh38]
Chr13:23949305 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10901A>T (p.Gln3634Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003035661] |
Chr13:23332975 [GRCh38]
Chr13:23907114 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.7219_7220del (p.Ser2406_Ile2407insTer) |
deletion |
Spastic paraplegia [RCV002690955] |
Chr13:23336656..23336657 [GRCh38]
Chr13:23910795..23910796 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6605G>A (p.Arg2202Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003077741] |
Chr13:23337271 [GRCh38]
Chr13:23911410 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.13386G>A (p.Arg4462=) |
single nucleotide variant |
Spastic paraplegia [RCV003078951] |
Chr13:23330490 [GRCh38]
Chr13:23904629 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8575C>G (p.His2859Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002910098] |
Chr13:23335301 [GRCh38]
Chr13:23909440 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1531_1532insT (p.Asp511fs) |
insertion |
Spastic paraplegia [RCV003037641] |
Chr13:23355080..23355081 [GRCh38]
Chr13:23929219..23929220 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1191T>C (p.Ser397=) |
single nucleotide variant |
Spastic paraplegia [RCV002590913] |
Chr13:23355421 [GRCh38]
Chr13:23929560 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5857C>T (p.His1953Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002912934] |
Chr13:23338019 [GRCh38]
Chr13:23912158 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7520A>G (p.Glu2507Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004070522]|Spastic paraplegia [RCV002636882] |
Chr13:23336356 [GRCh38]
Chr13:23910495 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4674T>C (p.Leu1558=) |
single nucleotide variant |
Spastic paraplegia [RCV002569843] |
Chr13:23339202 [GRCh38]
Chr13:23913341 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2940G>T (p.Met980Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002911396] |
Chr13:23340936 [GRCh38]
Chr13:23915075 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2340G>A (p.Lys780=) |
single nucleotide variant |
Spastic paraplegia [RCV003100365] |
Chr13:23341536 [GRCh38]
Chr13:23915675 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12256C>A (p.Leu4086Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002737976] |
Chr13:23331620 [GRCh38]
Chr13:23905759 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.957T>C (p.Tyr319=) |
single nucleotide variant |
Spastic paraplegia [RCV002866823] |
Chr13:23355655 [GRCh38]
Chr13:23929794 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4251A>G (p.Glu1417=) |
single nucleotide variant |
Spastic paraplegia [RCV002591915] |
Chr13:23339625 [GRCh38]
Chr13:23913764 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8844T>G (p.Pro2948=) |
single nucleotide variant |
Spastic paraplegia [RCV002923657] |
Chr13:23335032 [GRCh38]
Chr13:23909171 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2787C>T (p.Arg929=) |
single nucleotide variant |
Spastic paraplegia [RCV002796464] |
Chr13:23341089 [GRCh38]
Chr13:23915228 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4807A>G (p.Asn1603Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002637322] |
Chr13:23339069 [GRCh38]
Chr13:23913208 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003467533]|Spastic paraplegia [RCV002538873]|not specified [RCV003387938] |
Chr13:23335744 [GRCh38]
Chr13:23909883 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002591121]|Spastic paraplegia [RCV002591122] |
Chr13:23335588 [GRCh38]
Chr13:23909727 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9164T>C (p.Val3055Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002637476] |
Chr13:23334712 [GRCh38]
Chr13:23908851 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4206C>T (p.Asp1402=) |
single nucleotide variant |
Spastic paraplegia [RCV002690954] |
Chr13:23339670 [GRCh38]
Chr13:23913809 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6046C>G (p.Leu2016Val) |
single nucleotide variant |
Spastic paraplegia [RCV002736675] |
Chr13:23337830 [GRCh38]
Chr13:23911969 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11392A>G (p.Met3798Val) |
single nucleotide variant |
Spastic paraplegia [RCV002846177] |
Chr13:23332484 [GRCh38]
Chr13:23906623 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10063A>G (p.Ile3355Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003078060]|Spastic paraplegia [RCV003078061] |
Chr13:23333813 [GRCh38]
Chr13:23907952 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12778T>C (p.Ser4260Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002637682] |
Chr13:23331098 [GRCh38]
Chr13:23905237 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11194C>G (p.Gln3732Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002619854] |
Chr13:23332682 [GRCh38]
Chr13:23906821 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003134495]|Spastic paraplegia [RCV002756833] |
Chr13:23332976 [GRCh38]
Chr13:23907115 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.5608G>A (p.Val1870Met) |
single nucleotide variant |
Spastic paraplegia [RCV003077284] |
Chr13:23338268 [GRCh38]
Chr13:23912407 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1911G>A (p.Lys637=) |
single nucleotide variant |
Spastic paraplegia [RCV003018610] |
Chr13:23354701 [GRCh38]
Chr13:23928840 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9107A>G (p.Gln3036Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002638872] |
Chr13:23334769 [GRCh38]
Chr13:23908908 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1170A>C (p.Thr390=) |
single nucleotide variant |
Spastic paraplegia [RCV002979238] |
Chr13:23355442 [GRCh38]
Chr13:23929581 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5607G>A (p.Glu1869=) |
single nucleotide variant |
Spastic paraplegia [RCV003020969] |
Chr13:23338269 [GRCh38]
Chr13:23912408 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4797G>A (p.Gly1599=) |
single nucleotide variant |
Spastic paraplegia [RCV002913892] |
Chr13:23339079 [GRCh38]
Chr13:23913218 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1139_1143del (p.Glu380fs) |
deletion |
Spastic paraplegia [RCV003035791] |
Chr13:23355469..23355473 [GRCh38]
Chr13:23929608..23929612 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6460G>A (p.Ala2154Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002637103] |
Chr13:23337416 [GRCh38]
Chr13:23911555 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11517C>G (p.Phe3839Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003080114] |
Chr13:23332359 [GRCh38]
Chr13:23906498 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8655C>T (p.Gly2885=) |
single nucleotide variant |
Spastic paraplegia [RCV003000167] |
Chr13:23335221 [GRCh38]
Chr13:23909360 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10573T>C (p.Leu3525=) |
single nucleotide variant |
Spastic paraplegia [RCV002847844] |
Chr13:23333303 [GRCh38]
Chr13:23907442 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7277G>A (p.Arg2426Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003377807]|Spastic paraplegia [RCV002953276] |
Chr13:23336599 [GRCh38]
Chr13:23910738 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3774C>A (p.Phe1258Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002621139] |
Chr13:23340102 [GRCh38]
Chr13:23914241 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13699A>G (p.Ile4567Val) |
single nucleotide variant |
Spastic paraplegia [RCV002638489] |
Chr13:23330177 [GRCh38]
Chr13:23904316 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7053T>C (p.Asn2351=) |
single nucleotide variant |
Spastic paraplegia [RCV003038528] |
Chr13:23336823 [GRCh38]
Chr13:23910962 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10975G>C (p.Ala3659Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002952877] |
Chr13:23332901 [GRCh38]
Chr13:23907040 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12309A>T (p.Ala4103=) |
single nucleotide variant |
Spastic paraplegia [RCV003053077] |
Chr13:23331567 [GRCh38]
Chr13:23905706 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9769G>T (p.Val3257Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002659684]|Spastic paraplegia [RCV002624989] |
Chr13:23334107 [GRCh38]
Chr13:23908246 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.974G>A (p.Gly325Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002636486]|Spastic paraplegia [RCV002636487] |
Chr13:23355638 [GRCh38]
Chr13:23929777 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.3883A>G (p.Ile1295Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002950680] |
Chr13:23339993 [GRCh38]
Chr13:23914132 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11168A>T (p.Asp3723Val) |
single nucleotide variant |
Spastic paraplegia [RCV002823898] |
Chr13:23332708 [GRCh38]
Chr13:23906847 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5306A>G (p.His1769Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002912756] |
Chr13:23338570 [GRCh38]
Chr13:23912709 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4328_4329del (p.Leu1443fs) |
deletion |
Spastic paraplegia [RCV002909778] |
Chr13:23339547..23339548 [GRCh38]
Chr13:23913686..23913687 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003170823]|Spastic paraplegia [RCV002999456] |
Chr13:23336824 [GRCh38]
Chr13:23910963 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11457T>C (p.Ser3819=) |
single nucleotide variant |
Spastic paraplegia [RCV002761483] |
Chr13:23332419 [GRCh38]
Chr13:23906558 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5510G>A (p.Ser1837Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003037727] |
Chr13:23338366 [GRCh38]
Chr13:23912505 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13039A>C (p.Ile4347Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002592265] |
Chr13:23330837 [GRCh38]
Chr13:23904976 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12577A>G (p.Ile4193Val) |
single nucleotide variant |
Spastic paraplegia [RCV002622578] |
Chr13:23331299 [GRCh38]
Chr13:23905438 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9170G>A (p.Arg3057Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002620501] |
Chr13:23334706 [GRCh38]
Chr13:23908845 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.745C>T (p.Pro249Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002620985] |
Chr13:23355867 [GRCh38]
Chr13:23930006 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2274A>G (p.Arg758=) |
single nucleotide variant |
Spastic paraplegia [RCV003020881] |
Chr13:23341602 [GRCh38]
Chr13:23915741 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8692C>T (p.Arg2898Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002707541]|Spastic paraplegia [RCV003588850] |
Chr13:23335184 [GRCh38]
Chr13:23909323 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.193G>A (p.Gly65Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002780538] |
Chr13:23371144 [GRCh38]
Chr13:23945283 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003138408]|Inborn genetic diseases [RCV004067273]|Spastic paraplegia [RCV002952956] |
Chr13:23333750 [GRCh38]
Chr13:23907889 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10062T>C (p.Asn3354=) |
single nucleotide variant |
Spastic paraplegia [RCV003002637] |
Chr13:23333814 [GRCh38]
Chr13:23907953 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9282C>T (p.Thr3094=) |
single nucleotide variant |
Spastic paraplegia [RCV002662531] |
Chr13:23334594 [GRCh38]
Chr13:23908733 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3181C>T (p.Leu1061=) |
single nucleotide variant |
Spastic paraplegia [RCV002820229] |
Chr13:23340695 [GRCh38]
Chr13:23914834 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2947A>G (p.Ile983Val) |
single nucleotide variant |
Spastic paraplegia [RCV002975773] |
Chr13:23340929 [GRCh38]
Chr13:23915068 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11317T>G (p.Leu3773Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002821337] |
Chr13:23332559 [GRCh38]
Chr13:23906698 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6927A>G (p.Thr2309=) |
single nucleotide variant |
Spastic paraplegia [RCV002953179] |
Chr13:23336949 [GRCh38]
Chr13:23911088 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4917T>C (p.Tyr1639=) |
single nucleotide variant |
Spastic paraplegia [RCV002735968] |
Chr13:23338959 [GRCh38]
Chr13:23913098 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5012C>T (p.Ser1671Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003052986] |
Chr13:23338864 [GRCh38]
Chr13:23913003 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2574T>G (p.Ser858=) |
single nucleotide variant |
Spastic paraplegia [RCV002825014] |
Chr13:23341302 [GRCh38]
Chr13:23915441 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11478C>T (p.Tyr3826=) |
single nucleotide variant |
Spastic paraplegia [RCV002884983] |
Chr13:23332398 [GRCh38]
Chr13:23906537 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2890A>G (p.Ile964Val) |
single nucleotide variant |
Spastic paraplegia [RCV002912658] |
Chr13:23340986 [GRCh38]
Chr13:23915125 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5896G>A (p.Asp1966Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002695207] |
Chr13:23337980 [GRCh38]
Chr13:23912119 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.429_430del (p.Trp144fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003465980]|Spastic paraplegia [RCV002619784] |
Chr13:23365193..23365194 [GRCh38]
Chr13:23939332..23939333 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.259+19C>G |
single nucleotide variant |
Spastic paraplegia [RCV002976599] |
Chr13:23371059 [GRCh38]
Chr13:23945198 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2004G>T (p.Leu668=) |
single nucleotide variant |
Spastic paraplegia [RCV002999591] |
Chr13:23354608 [GRCh38]
Chr13:23928747 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1346del (p.Pro449fs) |
deletion |
Spastic paraplegia [RCV002999842] |
Chr13:23355266 [GRCh38]
Chr13:23929405 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13233A>C (p.Glu4411Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003078843] |
Chr13:23330643 [GRCh38]
Chr13:23904782 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.263G>A (p.Arg88Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002948522] |
Chr13:23368484 [GRCh38]
Chr13:23942623 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13112A>G (p.Asn4371Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002887416] |
Chr13:23330764 [GRCh38]
Chr13:23904903 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13281_13282delinsAG (p.Tyr4428Asp) |
indel |
Spastic paraplegia [RCV002953027] |
Chr13:23330594..23330595 [GRCh38]
Chr13:23904733..23904734 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11162G>A (p.Gly3721Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003077446] |
Chr13:23332714 [GRCh38]
Chr13:23906853 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9353C>T (p.Pro3118Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002690859] |
Chr13:23334523 [GRCh38]
Chr13:23908662 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12390C>T (p.Tyr4130=) |
single nucleotide variant |
Spastic paraplegia [RCV002910111] |
Chr13:23331486 [GRCh38]
Chr13:23905625 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12099A>T (p.Lys4033Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003080350] |
Chr13:23331777 [GRCh38]
Chr13:23905916 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1530A>G (p.Leu510=) |
single nucleotide variant |
Spastic paraplegia [RCV002796545] |
Chr13:23355082 [GRCh38]
Chr13:23929221 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1045A>G (p.Ile349Val) |
single nucleotide variant |
Spastic paraplegia [RCV003079152] |
Chr13:23355567 [GRCh38]
Chr13:23929706 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8437G>A (p.Gly2813Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002706008] |
Chr13:23335439 [GRCh38]
Chr13:23909578 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7687T>G (p.Phe2563Val) |
single nucleotide variant |
Spastic paraplegia [RCV002706618] |
Chr13:23336189 [GRCh38]
Chr13:23910328 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9618A>C (p.Ala3206=) |
single nucleotide variant |
Spastic paraplegia [RCV002848217] |
Chr13:23334258 [GRCh38]
Chr13:23908397 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1507A>G (p.Lys503Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002619292] |
Chr13:23355105 [GRCh38]
Chr13:23929244 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9764dup (p.Ser3256fs) |
duplication |
Spastic paraplegia [RCV002867817] |
Chr13:23334111..23334112 [GRCh38]
Chr13:23908250..23908251 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.535A>G (p.Arg179Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003002548] |
Chr13:23358404 [GRCh38]
Chr13:23932543 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12589T>C (p.Tyr4197His) |
single nucleotide variant |
Spastic paraplegia [RCV002913968] |
Chr13:23331287 [GRCh38]
Chr13:23905426 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5499C>T (p.Ser1833=) |
single nucleotide variant |
Spastic paraplegia [RCV002658832] |
Chr13:23338377 [GRCh38]
Chr13:23912516 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6363A>G (p.Ala2121=) |
single nucleotide variant |
Spastic paraplegia [RCV002637983] |
Chr13:23337513 [GRCh38]
Chr13:23911652 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1693A>G (p.Ile565Val) |
single nucleotide variant |
Spastic paraplegia [RCV002979953] |
Chr13:23354919 [GRCh38]
Chr13:23929058 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5974A>C (p.Arg1992=) |
single nucleotide variant |
Spastic paraplegia [RCV002871093] |
Chr13:23337902 [GRCh38]
Chr13:23912041 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10494C>A (p.Ile3498=) |
single nucleotide variant |
Spastic paraplegia [RCV003078944] |
Chr13:23333382 [GRCh38]
Chr13:23907521 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11634dup (p.Arg3879fs) |
duplication |
Spastic paraplegia [RCV002824159] |
Chr13:23332241..23332242 [GRCh38]
Chr13:23906380..23906381 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9073C>T (p.Pro3025Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002785509] |
Chr13:23334803 [GRCh38]
Chr13:23908942 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11946A>G (p.Leu3982=) |
single nucleotide variant |
Spastic paraplegia [RCV002637402] |
Chr13:23331930 [GRCh38]
Chr13:23906069 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6954T>G (p.Ala2318=) |
single nucleotide variant |
Spastic paraplegia [RCV002824180] |
Chr13:23336922 [GRCh38]
Chr13:23911061 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4932C>T (p.Phe1644=) |
single nucleotide variant |
Spastic paraplegia [RCV002885043] |
Chr13:23338944 [GRCh38]
Chr13:23913083 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.264A>G (p.Arg88=) |
single nucleotide variant |
Spastic paraplegia [RCV002638530] |
Chr13:23368483 [GRCh38]
Chr13:23942622 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10152T>C (p.Phe3384=) |
single nucleotide variant |
Spastic paraplegia [RCV003019982] |
Chr13:23333724 [GRCh38]
Chr13:23907863 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10818A>T (p.Glu3606Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002948906] |
Chr13:23333058 [GRCh38]
Chr13:23907197 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9808_9810del (p.Ile3270del) |
deletion |
Spastic paraplegia [RCV002780833] |
Chr13:23334066..23334068 [GRCh38]
Chr13:23908205..23908207 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3669T>C (p.Ala1223=) |
single nucleotide variant |
Spastic paraplegia [RCV003053115] |
Chr13:23340207 [GRCh38]
Chr13:23914346 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12233G>A (p.Arg4078Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002638565] |
Chr13:23331643 [GRCh38]
Chr13:23905782 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10093C>G (p.Leu3365Val) |
single nucleotide variant |
Spastic paraplegia [RCV002695344] |
Chr13:23333783 [GRCh38]
Chr13:23907922 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2936A>G (p.Asn979Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002866783] |
Chr13:23340940 [GRCh38]
Chr13:23915079 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.321T>A (p.Tyr107Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003036515] |
Chr13:23368426 [GRCh38]
Chr13:23942565 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7587C>G (p.Thr2529=) |
single nucleotide variant |
Spastic paraplegia [RCV002913256] |
Chr13:23336289 [GRCh38]
Chr13:23910428 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3082C>G (p.Pro1028Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002622731] |
Chr13:23340794 [GRCh38]
Chr13:23914933 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3464A>C (p.Lys1155Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002636974] |
Chr13:23340412 [GRCh38]
Chr13:23914551 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2488G>C (p.Asp830His) |
single nucleotide variant |
Spastic paraplegia [RCV003036004] |
Chr13:23341388 [GRCh38]
Chr13:23915527 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2093+9C>T |
single nucleotide variant |
Spastic paraplegia [RCV003053159] |
Chr13:23354510 [GRCh38]
Chr13:23928649 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7965A>G (p.Ala2655=) |
single nucleotide variant |
Spastic paraplegia [RCV002695178] |
Chr13:23335911 [GRCh38]
Chr13:23910050 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10398T>C (p.Ile3466=) |
single nucleotide variant |
Spastic paraplegia [RCV002659523] |
Chr13:23333478 [GRCh38]
Chr13:23907617 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2475A>G (p.Leu825=) |
single nucleotide variant |
Spastic paraplegia [RCV003077199] |
Chr13:23341401 [GRCh38]
Chr13:23915540 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12474A>C (p.Thr4158=) |
single nucleotide variant |
Spastic paraplegia [RCV003037582] |
Chr13:23331402 [GRCh38]
Chr13:23905541 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4216G>A (p.Asp1406Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003079557] |
Chr13:23339660 [GRCh38]
Chr13:23913799 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5498C>T (p.Ser1833Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002695562] |
Chr13:23338378 [GRCh38]
Chr13:23912517 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6063C>T (p.Ser2021=) |
single nucleotide variant |
Spastic paraplegia [RCV003035389] |
Chr13:23337813 [GRCh38]
Chr13:23911952 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1544G>A (p.Arg515His) |
single nucleotide variant |
Spastic paraplegia [RCV002626047] |
Chr13:23355068 [GRCh38]
Chr13:23929207 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1734A>G (p.Ser578=) |
single nucleotide variant |
Spastic paraplegia [RCV003024855] |
Chr13:23354878 [GRCh38]
Chr13:23929017 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12899T>A (p.Val4300Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002768328] |
Chr13:23330977 [GRCh38]
Chr13:23905116 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.328G>A (p.Gly110Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002830597] |
Chr13:23368419 [GRCh38]
Chr13:23942558 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10518T>G (p.Ser3506Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002919608] |
Chr13:23333358 [GRCh38]
Chr13:23907497 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5478A>G (p.Thr1826=) |
single nucleotide variant |
Spastic paraplegia [RCV002958364] |
Chr13:23338398 [GRCh38]
Chr13:23912537 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12738A>G (p.Ser4246=) |
single nucleotide variant |
Spastic paraplegia [RCV002958919] |
Chr13:23331138 [GRCh38]
Chr13:23905277 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3830G>A (p.Trp1277Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002876647] |
Chr13:23340046 [GRCh38]
Chr13:23914185 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9063T>G (p.Asn3021Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003084704] |
Chr13:23334813 [GRCh38]
Chr13:23908952 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9133A>G (p.Ile3045Val) |
single nucleotide variant |
Spastic paraplegia [RCV002959104] |
Chr13:23334743 [GRCh38]
Chr13:23908882 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12336T>C (p.Asn4112=) |
single nucleotide variant |
Spastic paraplegia [RCV003042473] |
Chr13:23331540 [GRCh38]
Chr13:23905679 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11907T>C (p.Leu3969=) |
single nucleotide variant |
Spastic paraplegia [RCV002829961] |
Chr13:23331969 [GRCh38]
Chr13:23906108 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg) |
single nucleotide variant |
SACS-related condition [RCV003395540]|Spastic paraplegia [RCV002928490] |
Chr13:23340107 [GRCh38]
Chr13:23914246 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9708C>A (p.Asp3236Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002876619] |
Chr13:23334168 [GRCh38]
Chr13:23908307 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13380T>A (p.Ala4460=) |
single nucleotide variant |
Spastic paraplegia [RCV002790466] |
Chr13:23330496 [GRCh38]
Chr13:23904635 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9771G>C (p.Val3257=) |
single nucleotide variant |
Spastic paraplegia [RCV002745747] |
Chr13:23334105 [GRCh38]
Chr13:23908244 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.879T>A (p.Leu293=) |
single nucleotide variant |
Spastic paraplegia [RCV002876719] |
Chr13:23355733 [GRCh38]
Chr13:23929872 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3949C>T (p.Leu1317=) |
single nucleotide variant |
Spastic paraplegia [RCV002624660] |
Chr13:23339927 [GRCh38]
Chr13:23914066 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8797T>C (p.Tyr2933His) |
single nucleotide variant |
Spastic paraplegia [RCV002596331] |
Chr13:23335079 [GRCh38]
Chr13:23909218 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8804C>T (p.Pro2935Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002644201] |
Chr13:23335072 [GRCh38]
Chr13:23909211 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5004T>C (p.Asp1668=) |
single nucleotide variant |
Spastic paraplegia [RCV002667060] |
Chr13:23338872 [GRCh38]
Chr13:23913011 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11997A>G (p.Gln3999=) |
single nucleotide variant |
Spastic paraplegia [RCV002627176] |
Chr13:23331879 [GRCh38]
Chr13:23906018 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8509A>G (p.Ile2837Val) |
single nucleotide variant |
Spastic paraplegia [RCV002712059] |
Chr13:23335367 [GRCh38]
Chr13:23909506 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12413G>A (p.Ser4138Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002894134] |
Chr13:23331463 [GRCh38]
Chr13:23905602 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002624233] |
Chr13:23330524 [GRCh38]
Chr13:23904663 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3577A>G (p.Ile1193Val) |
single nucleotide variant |
Spastic paraplegia [RCV002958105] |
Chr13:23340299 [GRCh38]
Chr13:23914438 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12261C>T (p.Tyr4087=) |
single nucleotide variant |
Spastic paraplegia [RCV003058911] |
Chr13:23331615 [GRCh38]
Chr13:23905754 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2938A>C (p.Met980Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002623767] |
Chr13:23340938 [GRCh38]
Chr13:23915077 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12678G>A (p.Gln4226=) |
single nucleotide variant |
Spastic paraplegia [RCV003023585] |
Chr13:23331198 [GRCh38]
Chr13:23905337 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5181T>C (p.Pro1727=) |
single nucleotide variant |
Spastic paraplegia [RCV003005924] |
Chr13:23338695 [GRCh38]
Chr13:23912834 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9174G>A (p.Leu3058=) |
single nucleotide variant |
Spastic paraplegia [RCV002895143] |
Chr13:23334702 [GRCh38]
Chr13:23908841 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8934G>A (p.Val2978=) |
single nucleotide variant |
Spastic paraplegia [RCV002623805] |
Chr13:23334942 [GRCh38]
Chr13:23909081 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003085039]|not provided [RCV003482442] |
Chr13:23335057 [GRCh38]
Chr13:23909196 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9203A>G (p.Asn3068Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002982986] |
Chr13:23334673 [GRCh38]
Chr13:23908812 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11727C>T (p.Leu3909=) |
single nucleotide variant |
Spastic paraplegia [RCV002741983] |
Chr13:23332149 [GRCh38]
Chr13:23906288 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4881T>C (p.Cys1627=) |
single nucleotide variant |
Spastic paraplegia [RCV003005978] |
Chr13:23338995 [GRCh38]
Chr13:23913134 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7351A>G (p.Ile2451Val) |
single nucleotide variant |
Spastic paraplegia [RCV003085067] |
Chr13:23336525 [GRCh38]
Chr13:23910664 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.453T>C (p.Tyr151=) |
single nucleotide variant |
Spastic paraplegia [RCV003058998] |
Chr13:23365170 [GRCh38]
Chr13:23939309 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8275C>T (p.Leu2759=) |
single nucleotide variant |
Spastic paraplegia [RCV002872180] |
Chr13:23335601 [GRCh38]
Chr13:23909740 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4025A>G (p.Lys1342Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003082905] |
Chr13:23339851 [GRCh38]
Chr13:23913990 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5649A>G (p.Pro1883=) |
single nucleotide variant |
Spastic paraplegia [RCV002876668] |
Chr13:23338227 [GRCh38]
Chr13:23912366 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3625C>T (p.Leu1209=) |
single nucleotide variant |
Spastic paraplegia [RCV002958230] |
Chr13:23340251 [GRCh38]
Chr13:23914390 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4465A>G (p.Asn1489Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002663279] |
Chr13:23339411 [GRCh38]
Chr13:23913550 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7038C>T (p.Phe2346=) |
single nucleotide variant |
Spastic paraplegia [RCV002765497] |
Chr13:23336838 [GRCh38]
Chr13:23910977 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7611T>C (p.Asn2537=) |
single nucleotide variant |
Spastic paraplegia [RCV002852191] |
Chr13:23336265 [GRCh38]
Chr13:23910404 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6413A>T (p.Asp2138Val) |
single nucleotide variant |
Spastic paraplegia [RCV002667312] |
Chr13:23337463 [GRCh38]
Chr13:23911602 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6877G>C (p.Val2293Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002854096] |
Chr13:23336999 [GRCh38]
Chr13:23911138 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9927T>G (p.Ile3309Met) |
single nucleotide variant |
Spastic paraplegia [RCV002791442] |
Chr13:23333949 [GRCh38]
Chr13:23908088 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10384C>T (p.Leu3462=) |
single nucleotide variant |
Spastic paraplegia [RCV002790796] |
Chr13:23333492 [GRCh38]
Chr13:23907631 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11245A>G (p.Ile3749Val) |
single nucleotide variant |
Spastic paraplegia [RCV002801229] |
Chr13:23332631 [GRCh38]
Chr13:23906770 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2801C>T (p.Ser934Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002985374] |
Chr13:23341075 [GRCh38]
Chr13:23915214 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2432G>A (p.Gly811Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003056511] |
Chr13:23341444 [GRCh38]
Chr13:23915583 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1204G>C (p.Gly402Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002643467] |
Chr13:23355408 [GRCh38]
Chr13:23929547 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1039A>G (p.Asn347Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003056559] |
Chr13:23355573 [GRCh38]
Chr13:23929712 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5013T>A (p.Ser1671=) |
single nucleotide variant |
Spastic paraplegia [RCV003057403] |
Chr13:23338863 [GRCh38]
Chr13:23913002 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7912T>C (p.Phe2638Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002643319] |
Chr13:23335964 [GRCh38]
Chr13:23910103 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3213C>G (p.Thr1071=) |
single nucleotide variant |
Spastic paraplegia [RCV002852323] |
Chr13:23340663 [GRCh38]
Chr13:23914802 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7148G>A (p.Arg2383His) |
single nucleotide variant |
Spastic paraplegia [RCV002985226] |
Chr13:23336728 [GRCh38]
Chr13:23910867 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.159C>T (p.Arg53=) |
single nucleotide variant |
Spastic paraplegia [RCV002801687] |
Chr13:23375131 [GRCh38]
Chr13:23949270 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.165C>G (p.Gly55=) |
single nucleotide variant |
Spastic paraplegia [RCV002871906] |
Chr13:23375125 [GRCh38]
Chr13:23949264 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.29C>T (p.Pro10Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002624441] |
Chr13:23375261 [GRCh38]
Chr13:23949400 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5529G>A (p.Leu1843=) |
single nucleotide variant |
Spastic paraplegia [RCV002801704] |
Chr13:23338347 [GRCh38]
Chr13:23912486 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2125A>G (p.Ile709Val) |
single nucleotide variant |
Spastic paraplegia [RCV002828215] |
Chr13:23353845 [GRCh38]
Chr13:23927984 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1923G>C (p.Leu641=) |
single nucleotide variant |
Spastic paraplegia [RCV002828220] |
Chr13:23354689 [GRCh38]
Chr13:23928828 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13397A>G (p.His4466Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002917511] |
Chr13:23330479 [GRCh38]
Chr13:23904618 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.9968C>T (p.Ala3323Val) |
single nucleotide variant |
Spastic paraplegia [RCV002982341] |
Chr13:23333908 [GRCh38]
Chr13:23908047 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10791_10792delinsAA (p.Gln3598Lys) |
indel |
Spastic paraplegia [RCV002851067] |
Chr13:23333084..23333085 [GRCh38]
Chr13:23907223..23907224 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13716A>G (p.Glu4572=) |
single nucleotide variant |
Spastic paraplegia [RCV002766420] |
Chr13:23330160 [GRCh38]
Chr13:23904299 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7219A>G (p.Ile2407Val) |
single nucleotide variant |
Spastic paraplegia [RCV003056529] |
Chr13:23336657 [GRCh38]
Chr13:23910796 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4519G>C (p.Glu1507Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002624254] |
Chr13:23339357 [GRCh38]
Chr13:23913496 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11925C>T (p.Ser3975=) |
single nucleotide variant |
Spastic paraplegia [RCV002710436] |
Chr13:23331951 [GRCh38]
Chr13:23906090 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.543G>A (p.Lys181=) |
single nucleotide variant |
Spastic paraplegia [RCV003083180] |
Chr13:23358396 [GRCh38]
Chr13:23932535 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13217C>T (p.Thr4406Met) |
single nucleotide variant |
Spastic paraplegia [RCV003041277] |
Chr13:23330659 [GRCh38]
Chr13:23904798 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7925A>G (p.Asn2642Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002985298] |
Chr13:23335951 [GRCh38]
Chr13:23910090 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7175G>A (p.Arg2392Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002914751] |
Chr13:23336701 [GRCh38]
Chr13:23910840 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10467T>G (p.Ser3489=) |
single nucleotide variant |
Spastic paraplegia [RCV002872572] |
Chr13:23333409 [GRCh38]
Chr13:23907548 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4977T>C (p.Val1659=) |
single nucleotide variant |
Spastic paraplegia [RCV002954319] |
Chr13:23338899 [GRCh38]
Chr13:23913038 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.57C>G (p.Gly19=) |
single nucleotide variant |
Spastic paraplegia [RCV002741661] |
Chr13:23375233 [GRCh38]
Chr13:23949372 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9122C>A (p.Ala3041Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002827876] |
Chr13:23334754 [GRCh38]
Chr13:23908893 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7376T>G (p.Met2459Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002643875] |
Chr13:23336500 [GRCh38]
Chr13:23910639 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12257T>G (p.Leu4086Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002954713] |
Chr13:23331619 [GRCh38]
Chr13:23905758 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9981T>G (p.Ala3327=) |
single nucleotide variant |
Spastic paraplegia [RCV002595800] |
Chr13:23333895 [GRCh38]
Chr13:23908034 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8828T>C (p.Val2943Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002640694] |
Chr13:23335048 [GRCh38]
Chr13:23909187 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002851166] |
Chr13:23337878 [GRCh38]
Chr13:23912017 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV002509006] |
Chr13:23337959 [GRCh38]
Chr13:23912098 [GRCh37]
Chr13:13q12.12 |
not provided |
| NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003084339] |
Chr13:23340593 [GRCh38]
Chr13:23914732 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5154C>T (p.Ser1718=) |
single nucleotide variant |
Spastic paraplegia [RCV002786425] |
Chr13:23338722 [GRCh38]
Chr13:23912861 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8047G>T (p.Asp2683Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002624693] |
Chr13:23335829 [GRCh38]
Chr13:23909968 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9284del (p.Pro3095fs) |
deletion |
Spastic paraplegia [RCV002740818] |
Chr13:23334592 [GRCh38]
Chr13:23908731 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13467C>T (p.Asp4489=) |
single nucleotide variant |
Spastic paraplegia [RCV002917757] |
Chr13:23330409 [GRCh38]
Chr13:23904548 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.579G>T (p.Gly193=) |
single nucleotide variant |
Spastic paraplegia [RCV002593769] |
Chr13:23358360 [GRCh38]
Chr13:23932499 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7302T>C (p.Ser2434=) |
single nucleotide variant |
Spastic paraplegia [RCV003005059] |
Chr13:23336574 [GRCh38]
Chr13:23910713 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2656C>T (p.Gln886Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003041183] |
Chr13:23341220 [GRCh38]
Chr13:23915359 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6816T>G (p.Gly2272=) |
single nucleotide variant |
Spastic paraplegia [RCV002741088] |
Chr13:23337060 [GRCh38]
Chr13:23911199 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer) |
deletion |
Spastic paraplegia [RCV003043384] |
Chr13:23330388..23330389 [GRCh38]
Chr13:23904527..23904528 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12849A>G (p.Arg4283=) |
single nucleotide variant |
Spastic paraplegia [RCV002957608] |
Chr13:23331027 [GRCh38]
Chr13:23905166 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2895A>G (p.Ser965=) |
single nucleotide variant |
Spastic paraplegia [RCV002876443] |
Chr13:23340981 [GRCh38]
Chr13:23915120 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4864A>G (p.Ile1622Val) |
single nucleotide variant |
Spastic paraplegia [RCV003082964] |
Chr13:23339012 [GRCh38]
Chr13:23913151 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9831C>T (p.Asp3277=) |
single nucleotide variant |
Spastic paraplegia [RCV003085354] |
Chr13:23334045 [GRCh38]
Chr13:23908184 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3549A>C (p.Pro1183=) |
single nucleotide variant |
Spastic paraplegia [RCV003043081] |
Chr13:23340327 [GRCh38]
Chr13:23914466 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5599A>G (p.Ile1867Val) |
single nucleotide variant |
Spastic paraplegia [RCV002805654] |
Chr13:23338277 [GRCh38]
Chr13:23912416 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6801T>C (p.Ser2267=) |
single nucleotide variant |
Spastic paraplegia [RCV002801452] |
Chr13:23337075 [GRCh38]
Chr13:23911214 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6019G>C (p.Ala2007Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002741867] |
Chr13:23337857 [GRCh38]
Chr13:23911996 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11334A>G (p.Glu3778=) |
single nucleotide variant |
Spastic paraplegia [RCV003039805] |
Chr13:23332542 [GRCh38]
Chr13:23906681 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3734A>G (p.Tyr1245Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002623942] |
Chr13:23340142 [GRCh38]
Chr13:23914281 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11277G>A (p.Thr3759=) |
single nucleotide variant |
Spastic paraplegia [RCV002594321] |
Chr13:23332599 [GRCh38]
Chr13:23906738 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3401T>C (p.Val1134Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002957154] |
Chr13:23340475 [GRCh38]
Chr13:23914614 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4173C>A (p.Ile1391=) |
single nucleotide variant |
Spastic paraplegia [RCV002853034] |
Chr13:23339703 [GRCh38]
Chr13:23913842 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1981A>G (p.Ser661Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002914689] |
Chr13:23354631 [GRCh38]
Chr13:23928770 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5263A>G (p.Lys1755Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002852244] |
Chr13:23338613 [GRCh38]
Chr13:23912752 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7026A>G (p.Lys2342=) |
single nucleotide variant |
Spastic paraplegia [RCV003005213] |
Chr13:23336850 [GRCh38]
Chr13:23910989 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6176A>T (p.Glu2059Val) |
single nucleotide variant |
Spastic paraplegia [RCV002624767] |
Chr13:23337700 [GRCh38]
Chr13:23911839 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6758T>C (p.Ile2253Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002917335] |
Chr13:23337118 [GRCh38]
Chr13:23911257 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1581A>G (p.Ser527=) |
single nucleotide variant |
Spastic paraplegia [RCV002917840] |
Chr13:23355031 [GRCh38]
Chr13:23929170 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11350A>G (p.Lys3784Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003025889] |
Chr13:23332526 [GRCh38]
Chr13:23906665 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9909T>C (p.Pro3303=) |
single nucleotide variant |
Spastic paraplegia [RCV002594134] |
Chr13:23333967 [GRCh38]
Chr13:23908106 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11965G>T (p.Val3989Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003138328]|Spastic paraplegia [RCV002667661] |
Chr13:23331911 [GRCh38]
Chr13:23906050 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4018T>C (p.Tyr1340His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003138399]|Spastic paraplegia [RCV002932929] |
Chr13:23339858 [GRCh38]
Chr13:23913997 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.2575A>G (p.Ile859Val) |
single nucleotide variant |
Spastic paraplegia [RCV002624555] |
Chr13:23341301 [GRCh38]
Chr13:23915440 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1071T>C (p.Ser357=) |
single nucleotide variant |
Spastic paraplegia [RCV003083793] |
Chr13:23355541 [GRCh38]
Chr13:23929680 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12578T>A (p.Ile4193Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004068363]|Spastic paraplegia [RCV003007277] |
Chr13:23331298 [GRCh38]
Chr13:23905437 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9420T>C (p.Phe3140=) |
single nucleotide variant |
Spastic paraplegia [RCV002933096] |
Chr13:23334456 [GRCh38]
Chr13:23908595 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9358C>T (p.Arg3120Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003085639] |
Chr13:23334518 [GRCh38]
Chr13:23908657 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.470A>G (p.Tyr157Cys) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003140206]|Inborn genetic diseases [RCV002987377] |
Chr13:23358469 [GRCh38]
Chr13:23932608 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1881G>C (p.Thr627=) |
single nucleotide variant |
Spastic paraplegia [RCV002872351] |
Chr13:23354731 [GRCh38]
Chr13:23928870 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3054G>A (p.Glu1018=) |
single nucleotide variant |
Spastic paraplegia [RCV002933108] |
Chr13:23340822 [GRCh38]
Chr13:23914961 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7582T>C (p.Leu2528=) |
single nucleotide variant |
Spastic paraplegia [RCV002915050] |
Chr13:23336294 [GRCh38]
Chr13:23910433 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7304T>C (p.Leu2435Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003005027] |
Chr13:23336572 [GRCh38]
Chr13:23910711 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11346A>C (p.Ala3782=) |
single nucleotide variant |
Spastic paraplegia [RCV002852096] |
Chr13:23332530 [GRCh38]
Chr13:23906669 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7506A>G (p.Arg2502=) |
single nucleotide variant |
Spastic paraplegia [RCV002595581] |
Chr13:23336370 [GRCh38]
Chr13:23910509 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.645A>G (p.Leu215=) |
single nucleotide variant |
Spastic paraplegia [RCV002894826] |
Chr13:23355967 [GRCh38]
Chr13:23930106 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9630C>T (p.Asp3210=) |
single nucleotide variant |
Spastic paraplegia [RCV002745584] |
Chr13:23334246 [GRCh38]
Chr13:23908385 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2186-7T>C |
single nucleotide variant |
Spastic paraplegia [RCV002667867] |
Chr13:23341697 [GRCh38]
Chr13:23915836 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11787T>C (p.His3929=) |
single nucleotide variant |
Spastic paraplegia [RCV002894850] |
Chr13:23332089 [GRCh38]
Chr13:23906228 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11143A>G (p.Ser3715Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002742037] |
Chr13:23332733 [GRCh38]
Chr13:23906872 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2912A>G (p.Asp971Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002790369] |
Chr13:23340964 [GRCh38]
Chr13:23915103 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.10070G>A (p.Ser3357Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003007216] |
Chr13:23333806 [GRCh38]
Chr13:23907945 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2906G>A (p.Ser969Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002623412] |
Chr13:23340970 [GRCh38]
Chr13:23915109 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3108A>G (p.Pro1036=) |
single nucleotide variant |
Spastic paraplegia [RCV002872277] |
Chr13:23340768 [GRCh38]
Chr13:23914907 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11519A>G (p.Lys3840Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002626475] |
Chr13:23332357 [GRCh38]
Chr13:23906496 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2854C>T (p.His952Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003085462] |
Chr13:23341022 [GRCh38]
Chr13:23915161 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1818G>A (p.Gly606=) |
single nucleotide variant |
Spastic paraplegia [RCV003085470] |
Chr13:23354794 [GRCh38]
Chr13:23928933 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4311A>G (p.Pro1437=) |
single nucleotide variant |
Spastic paraplegia [RCV003085041] |
Chr13:23339565 [GRCh38]
Chr13:23913704 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5309T>G (p.Val1770Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002874355] |
Chr13:23338567 [GRCh38]
Chr13:23912706 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003465925]|Spastic paraplegia [RCV003058406] |
Chr13:23332863..23332864 [GRCh38]
Chr13:23907002..23907003 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4554T>C (p.His1518=) |
single nucleotide variant |
Spastic paraplegia [RCV002891193] |
Chr13:23339322 [GRCh38]
Chr13:23913461 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1600C>G (p.Leu534Val) |
single nucleotide variant |
Spastic paraplegia [RCV002667104] |
Chr13:23355012 [GRCh38]
Chr13:23929151 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10398T>G (p.Ile3466Met) |
single nucleotide variant |
Spastic paraplegia [RCV003082025] |
Chr13:23333478 [GRCh38]
Chr13:23907617 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6163C>A (p.Gln2055Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002595111] |
Chr13:23337713 [GRCh38]
Chr13:23911852 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.611del (p.Pro204fs) |
deletion |
Spastic paraplegia [RCV002643466] |
Chr13:23356001 [GRCh38]
Chr13:23930140 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8822T>C (p.Leu2941Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002982759] |
Chr13:23335054 [GRCh38]
Chr13:23909193 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5900T>C (p.Ile1967Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002596364] |
Chr13:23337976 [GRCh38]
Chr13:23912115 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2534A>G (p.Gln845Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002982230] |
Chr13:23341342 [GRCh38]
Chr13:23915481 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6330A>G (p.Pro2110=) |
single nucleotide variant |
Spastic paraplegia [RCV002790196] |
Chr13:23337546 [GRCh38]
Chr13:23911685 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1278A>G (p.Leu426=) |
single nucleotide variant |
Spastic paraplegia [RCV002711867] |
Chr13:23355334 [GRCh38]
Chr13:23929473 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9052T>C (p.Ser3018Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003358001]|Spastic paraplegia [RCV002791043] |
Chr13:23334824 [GRCh38]
Chr13:23908963 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5958T>G (p.Val1986=) |
single nucleotide variant |
Spastic paraplegia [RCV003058649] |
Chr13:23337918 [GRCh38]
Chr13:23912057 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8364T>C (p.Val2788=) |
single nucleotide variant |
Spastic paraplegia [RCV002790931] |
Chr13:23335512 [GRCh38]
Chr13:23909651 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5643C>G (p.Gly1881=) |
single nucleotide variant |
Spastic paraplegia [RCV003025707] |
Chr13:23338233 [GRCh38]
Chr13:23912372 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10759A>C (p.Arg3587=) |
single nucleotide variant |
Spastic paraplegia [RCV002876300] |
Chr13:23333117 [GRCh38]
Chr13:23907256 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5496T>C (p.Phe1832=) |
single nucleotide variant |
Spastic paraplegia [RCV002710459] |
Chr13:23338380 [GRCh38]
Chr13:23912519 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5585C>G (p.Thr1862Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003084119] |
Chr13:23338291 [GRCh38]
Chr13:23912430 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6609A>G (p.Ala2203=) |
single nucleotide variant |
Spastic paraplegia [RCV002852871] |
Chr13:23337267 [GRCh38]
Chr13:23911406 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7167G>T (p.Val2389=) |
single nucleotide variant |
Spastic paraplegia [RCV003040609] |
Chr13:23336709 [GRCh38]
Chr13:23910848 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003170846]|Spastic paraplegia [RCV003005456]|not provided [RCV003482435] |
Chr13:23331343 [GRCh38]
Chr13:23905482 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002626401] |
Chr13:23333422 [GRCh38]
Chr13:23907561 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1551G>A (p.Glu517=) |
single nucleotide variant |
Spastic paraplegia [RCV003056277] |
Chr13:23355061 [GRCh38]
Chr13:23929200 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1537A>G (p.Ile513Val) |
single nucleotide variant |
Spastic paraplegia [RCV002710979] |
Chr13:23355075 [GRCh38]
Chr13:23929214 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.12172A>G (p.Arg4058Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002932027] |
Chr13:23331704 [GRCh38]
Chr13:23905843 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3994A>G (p.Ile1332Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002850517] |
Chr13:23339882 [GRCh38]
Chr13:23914021 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7020_7024del (p.Leu2341fs) |
deletion |
Spastic paraplegia [RCV002871666] |
Chr13:23336852..23336856 [GRCh38]
Chr13:23910991..23910995 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6218del (p.Arg2073fs) |
deletion |
Spastic paraplegia [RCV002875870] |
Chr13:23337658 [GRCh38]
Chr13:23911797 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9359G>A (p.Arg3120His) |
single nucleotide variant |
Inborn genetic diseases [RCV004068476]|Spastic paraplegia [RCV003005055] |
Chr13:23334517 [GRCh38]
Chr13:23908656 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter) |
single nucleotide variant |
Autosomal recessive spastic ataxia [RCV004017968]|Charlevoix-Saguenay spastic ataxia [RCV002790004] |
Chr13:23330526 [GRCh38]
Chr13:23904665 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.9910C>T (p.Leu3304Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002632656] |
Chr13:23333966 [GRCh38]
Chr13:23908105 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3645C>T (p.Ile1215=) |
single nucleotide variant |
Spastic paraplegia [RCV002715958] |
Chr13:23340231 [GRCh38]
Chr13:23914370 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11235T>C (p.Leu3745=) |
single nucleotide variant |
Spastic paraplegia [RCV002810557] |
Chr13:23332641 [GRCh38]
Chr13:23906780 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12001A>C (p.Arg4001=) |
single nucleotide variant |
Spastic paraplegia [RCV002810559] |
Chr13:23331875 [GRCh38]
Chr13:23906014 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7928_7937del (p.Asp2643fs) |
deletion |
Spastic paraplegia [RCV003049345] |
Chr13:23335939..23335948 [GRCh38]
Chr13:23910078..23910087 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5920G>A (p.Glu1974Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003027440] |
Chr13:23337956 [GRCh38]
Chr13:23912095 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6641G>T (p.Arg2214Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003011353]|Spastic paraplegia [RCV003011354] |
Chr13:23337235 [GRCh38]
Chr13:23911374 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7221T>G (p.Ile2407Met) |
single nucleotide variant |
Spastic paraplegia [RCV002601440] |
Chr13:23336655 [GRCh38]
Chr13:23910794 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3684T>C (p.Phe1228=) |
single nucleotide variant |
Spastic paraplegia [RCV002651303] |
Chr13:23340192 [GRCh38]
Chr13:23914331 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10498C>T (p.Leu3500Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002632895] |
Chr13:23333378 [GRCh38]
Chr13:23907517 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13319C>T (p.Ser4440Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004070158]|Spastic paraplegia [RCV003064584] |
Chr13:23330557 [GRCh38]
Chr13:23904696 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.6362C>T (p.Ala2121Val) |
single nucleotide variant |
Spastic paraplegia [RCV003064501] |
Chr13:23337514 [GRCh38]
Chr13:23911653 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5336C>T (p.Ser1779Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003065746]|Spastic paraplegia [RCV003071747] |
Chr13:23338540 [GRCh38]
Chr13:23912679 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12588A>G (p.Ser4196=) |
single nucleotide variant |
Spastic paraplegia [RCV002922636] |
Chr13:23331288 [GRCh38]
Chr13:23905427 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3971T>C (p.Ile1324Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003090041] |
Chr13:23339905 [GRCh38]
Chr13:23914044 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10714C>T (p.Pro3572Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003091775] |
Chr13:23333162 [GRCh38]
Chr13:23907301 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.107A>G (p.Glu36Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002602655] |
Chr13:23375183 [GRCh38]
Chr13:23949322 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3472C>T (p.Pro1158Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002582194] |
Chr13:23340404 [GRCh38]
Chr13:23914543 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2034dup (p.Phe679fs) |
duplication |
Spastic paraplegia [RCV002601068] |
Chr13:23354577..23354578 [GRCh38]
Chr13:23928716..23928717 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2458C>T (p.Leu820Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002675602] |
Chr13:23341418 [GRCh38]
Chr13:23915557 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.6723A>G (p.Ala2241=) |
single nucleotide variant |
Spastic paraplegia [RCV003060298] |
Chr13:23337153 [GRCh38]
Chr13:23911292 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11165G>A (p.Ser3722Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002806788] |
Chr13:23332711 [GRCh38]
Chr13:23906850 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9C>T (p.Thr3=) |
single nucleotide variant |
Spastic paraplegia [RCV002922765] |
Chr13:23411231 [GRCh38]
Chr13:23985370 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12775C>T (p.Pro4259Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004073145]|Spastic paraplegia [RCV003090195] |
Chr13:23331101 [GRCh38]
Chr13:23905240 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1256del (p.Ile419fs) |
deletion |
Spastic paraplegia [RCV002877225] |
Chr13:23355356 [GRCh38]
Chr13:23929495 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.135G>A (p.Pro45=) |
single nucleotide variant |
Spastic paraplegia [RCV002933849] |
Chr13:23375155 [GRCh38]
Chr13:23949294 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2123T>A (p.Phe708Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003065411] |
Chr13:23353847 [GRCh38]
Chr13:23927986 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.28C>T (p.Pro10Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002632867] |
Chr13:23375262 [GRCh38]
Chr13:23949401 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1675A>G (p.Asn559Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003092102] |
Chr13:23354937 [GRCh38]
Chr13:23929076 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10747G>A (p.Val3583Met) |
single nucleotide variant |
Spastic paraplegia [RCV002938789] |
Chr13:23333129 [GRCh38]
Chr13:23907268 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3797G>A (p.Gly1266Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002770778] |
Chr13:23340079 [GRCh38]
Chr13:23914218 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1079G>A (p.Cys360Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003090284] |
Chr13:23355533 [GRCh38]
Chr13:23929672 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1720C>T (p.Gln574Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002581827] |
Chr13:23354892 [GRCh38]
Chr13:23929031 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13079A>T (p.Asn4360Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003091844] |
Chr13:23330797 [GRCh38]
Chr13:23904936 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3917A>G (p.Asn1306Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002627833]|Spastic paraplegia [RCV002599762] |
Chr13:23339959 [GRCh38]
Chr13:23914098 [GRCh37]
Chr13:13q12.12 |
benign|likely benign |
| NM_014363.6(SACS):c.10101T>C (p.Tyr3367=) |
single nucleotide variant |
Spastic paraplegia [RCV002716399] |
Chr13:23333775 [GRCh38]
Chr13:23907914 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3083C>T (p.Pro1028Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002675878] |
Chr13:23340793 [GRCh38]
Chr13:23914932 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.703G>T (p.Asp235Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002577938] |
Chr13:23355909 [GRCh38]
Chr13:23930048 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003170586]|Spastic paraplegia [RCV002938046] |
Chr13:23334055 [GRCh38]
Chr13:23908194 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.9484_9496del (p.Val3162fs) |
deletion |
Spastic paraplegia [RCV002835233] |
Chr13:23334380..23334392 [GRCh38]
Chr13:23908519..23908531 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7466C>G (p.Pro2489Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002831108] |
Chr13:23336410 [GRCh38]
Chr13:23910549 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7724T>C (p.Ile2575Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002878195] |
Chr13:23336152 [GRCh38]
Chr13:23910291 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12603C>A (p.Tyr4201Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003062567] |
Chr13:23331273 [GRCh38]
Chr13:23905412 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2156C>T (p.Ala719Val) |
single nucleotide variant |
Spastic paraplegia [RCV003089601] |
Chr13:23353814 [GRCh38]
Chr13:23927953 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12532C>T (p.Pro4178Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003091311] |
Chr13:23331344 [GRCh38]
Chr13:23905483 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12540A>G (p.Glu4180=) |
single nucleotide variant |
Spastic paraplegia [RCV002899964] |
Chr13:23331336 [GRCh38]
Chr13:23905475 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003064556]|not provided [RCV003313301] |
Chr13:23339964 [GRCh38]
Chr13:23914103 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.8842C>T (p.Pro2948Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002935776] |
Chr13:23335034 [GRCh38]
Chr13:23909173 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9683C>T (p.Thr3228Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002770145] |
Chr13:23334193 [GRCh38]
Chr13:23908332 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10724A>G (p.His3575Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003088056] |
Chr13:23333152 [GRCh38]
Chr13:23907291 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10308C>G (p.Ile3436Met) |
single nucleotide variant |
Spastic paraplegia [RCV002770396] |
Chr13:23333568 [GRCh38]
Chr13:23907707 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2276A>G (p.Glu759Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002898185] |
Chr13:23341600 [GRCh38]
Chr13:23915739 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11379G>A (p.Gly3793=) |
single nucleotide variant |
Spastic paraplegia [RCV003046191] |
Chr13:23332497 [GRCh38]
Chr13:23906636 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12103A>G (p.Ile4035Val) |
single nucleotide variant |
Spastic paraplegia [RCV003060143] |
Chr13:23331773 [GRCh38]
Chr13:23905912 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.729T>G (p.Leu243=) |
single nucleotide variant |
Spastic paraplegia [RCV002895517] |
Chr13:23355883 [GRCh38]
Chr13:23930022 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.941A>G (p.Gln314Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003060855] |
Chr13:23355671 [GRCh38]
Chr13:23929810 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004071899]|Spastic paraplegia [RCV003087412] |
Chr13:23330373 [GRCh38]
Chr13:23904512 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.12324A>G (p.Ser4108=) |
single nucleotide variant |
Spastic paraplegia [RCV002834304] |
Chr13:23331552 [GRCh38]
Chr13:23905691 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3248T>C (p.Ile1083Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003087420] |
Chr13:23340628 [GRCh38]
Chr13:23914767 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7319A>G (p.Lys2440Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002628264] |
Chr13:23336557 [GRCh38]
Chr13:23910696 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4189G>A (p.Glu1397Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002922772] |
Chr13:23339687 [GRCh38]
Chr13:23913826 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12552C>T (p.Tyr4184=) |
single nucleotide variant |
Spastic paraplegia [RCV002599604] |
Chr13:23331324 [GRCh38]
Chr13:23905463 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7686T>C (p.Cys2562=) |
single nucleotide variant |
Spastic paraplegia [RCV003029474] |
Chr13:23336190 [GRCh38]
Chr13:23910329 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6257A>T (p.Asp2086Val) |
single nucleotide variant |
Spastic paraplegia [RCV002937640] |
Chr13:23337619 [GRCh38]
Chr13:23911758 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3018T>A (p.His1006Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003044884] |
Chr13:23340858 [GRCh38]
Chr13:23914997 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10056A>T (p.Thr3352=) |
single nucleotide variant |
Spastic paraplegia [RCV002647383] |
Chr13:23333820 [GRCh38]
Chr13:23907959 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6140T>C (p.Leu2047Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003061648] |
Chr13:23337736 [GRCh38]
Chr13:23911875 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.10794G>A (p.Gln3598=) |
single nucleotide variant |
Spastic paraplegia [RCV002857643] |
Chr13:23333082 [GRCh38]
Chr13:23907221 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9484G>A (p.Val3162Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003046295] |
Chr13:23334392 [GRCh38]
Chr13:23908531 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7679A>G (p.Glu2560Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002962920] |
Chr13:23336197 [GRCh38]
Chr13:23910336 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11145C>T (p.Ser3715=) |
single nucleotide variant |
Spastic paraplegia [RCV002877089] |
Chr13:23332731 [GRCh38]
Chr13:23906870 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9663G>A (p.Val3221=) |
single nucleotide variant |
Spastic paraplegia [RCV002646995] |
Chr13:23334213 [GRCh38]
Chr13:23908352 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4248G>A (p.Val1416=) |
single nucleotide variant |
Spastic paraplegia [RCV003088750] |
Chr13:23339628 [GRCh38]
Chr13:23913767 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002627813] |
Chr13:23332336 [GRCh38]
Chr13:23906475 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3304G>A (p.Asp1102Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002600198] |
Chr13:23340572 [GRCh38]
Chr13:23914711 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2619A>G (p.Pro873=) |
single nucleotide variant |
Spastic paraplegia [RCV003063242] |
Chr13:23341257 [GRCh38]
Chr13:23915396 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003465855]|Spastic paraplegia [RCV002898745] |
Chr13:23337009..23337010 [GRCh38]
Chr13:23911148..23911149 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003068036]|Spastic paraplegia [RCV003062790]|not provided [RCV003128958] |
Chr13:23331472 [GRCh38]
Chr13:23905611 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11052A>G (p.Gly3684=) |
single nucleotide variant |
Spastic paraplegia [RCV002899040] |
Chr13:23332824 [GRCh38]
Chr13:23906963 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.948T>C (p.Val316=) |
single nucleotide variant |
Spastic paraplegia [RCV003063261] |
Chr13:23355664 [GRCh38]
Chr13:23929803 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3617A>G (p.His1206Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002895208] |
Chr13:23340259 [GRCh38]
Chr13:23914398 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11157del (p.Glu3720fs) |
deletion |
Spastic paraplegia [RCV003087029] |
Chr13:23332719 [GRCh38]
Chr13:23906858 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.653A>T (p.His218Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002895699] |
Chr13:23355959 [GRCh38]
Chr13:23930098 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12009G>A (p.Gln4003=) |
single nucleotide variant |
Spastic paraplegia [RCV002577214] |
Chr13:23331867 [GRCh38]
Chr13:23906006 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5033T>A (p.Leu1678His) |
single nucleotide variant |
Spastic paraplegia [RCV002937252] |
Chr13:23338843 [GRCh38]
Chr13:23912982 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8455C>T (p.Leu2819=) |
single nucleotide variant |
Spastic paraplegia [RCV002857755] |
Chr13:23335421 [GRCh38]
Chr13:23909560 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003060795] |
Chr13:23338556 [GRCh38]
Chr13:23912695 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8849A>C (p.His2950Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003086596] |
Chr13:23335027 [GRCh38]
Chr13:23909166 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8053T>C (p.Tyr2685His) |
single nucleotide variant |
Inborn genetic diseases [RCV002793094] |
Chr13:23335823 [GRCh38]
Chr13:23909962 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12787A>C (p.Thr4263Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002962579] |
Chr13:23331089 [GRCh38]
Chr13:23905228 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10880T>G (p.Ile3627Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003349046]|Spastic paraplegia [RCV002627940] |
Chr13:23332996 [GRCh38]
Chr13:23907135 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003161800]|SACS-related condition [RCV003404081]|Spastic paraplegia [RCV003090406] |
Chr13:23338841 [GRCh38]
Chr13:23912980 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10197G>A (p.Met3399Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002598966] |
Chr13:23333679 [GRCh38]
Chr13:23907818 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9076T>A (p.Phe3026Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002897587] |
Chr13:23334800 [GRCh38]
Chr13:23908939 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12437C>T (p.Ser4146Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002922721] |
Chr13:23331439 [GRCh38]
Chr13:23905578 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5788G>A (p.Asp1930Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002938421] |
Chr13:23338088 [GRCh38]
Chr13:23912227 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1878G>A (p.Val626=) |
single nucleotide variant |
Spastic paraplegia [RCV002988692] |
Chr13:23354734 [GRCh38]
Chr13:23928873 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6445G>A (p.Val2149Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003010209] |
Chr13:23337431 [GRCh38]
Chr13:23911570 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.960C>T (p.Val320=) |
single nucleotide variant |
Spastic paraplegia [RCV003045695] |
Chr13:23355652 [GRCh38]
Chr13:23929791 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4982G>A (p.Ser1661Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003030362] |
Chr13:23338894 [GRCh38]
Chr13:23913033 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5682A>G (p.Ser1894=) |
single nucleotide variant |
Spastic paraplegia [RCV002675779] |
Chr13:23338194 [GRCh38]
Chr13:23912333 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2028T>C (p.Phe676=) |
single nucleotide variant |
Spastic paraplegia [RCV003027634] |
Chr13:23354584 [GRCh38]
Chr13:23928723 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003485820]|Spastic paraplegia [RCV002647476] |
Chr13:23332810 [GRCh38]
Chr13:23906949 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.10110A>G (p.Gln3370=) |
single nucleotide variant |
Spastic paraplegia [RCV002599330] |
Chr13:23333766 [GRCh38]
Chr13:23907905 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5864A>G (p.Asp1955Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002963117] |
Chr13:23338012 [GRCh38]
Chr13:23912151 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4465A>C (p.Asn1489His) |
single nucleotide variant |
Spastic paraplegia [RCV002632187] |
Chr13:23339411 [GRCh38]
Chr13:23913550 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6498T>C (p.Arg2166=) |
single nucleotide variant |
Spastic paraplegia [RCV003044601] |
Chr13:23337378 [GRCh38]
Chr13:23911517 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12335A>G (p.Asn4112Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002922127] |
Chr13:23331541 [GRCh38]
Chr13:23905680 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003475510]|Spastic paraplegia [RCV002598743] |
Chr13:23332935..23332938 [GRCh38]
Chr13:23907074..23907077 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3583A>G (p.Ile1195Val) |
single nucleotide variant |
Spastic paraplegia [RCV003087761] |
Chr13:23340293 [GRCh38]
Chr13:23914432 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10377A>G (p.Leu3459=) |
single nucleotide variant |
Spastic paraplegia [RCV002599351] |
Chr13:23333499 [GRCh38]
Chr13:23907638 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4770A>G (p.Lys1590=) |
single nucleotide variant |
Spastic paraplegia [RCV003063014] |
Chr13:23339106 [GRCh38]
Chr13:23913245 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3193T>C (p.Phe1065Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003375655]|Spastic paraplegia [RCV002646223] |
Chr13:23340683 [GRCh38]
Chr13:23914822 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.7962T>G (p.Tyr2654Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003062568] |
Chr13:23335914 [GRCh38]
Chr13:23910053 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2437A>G (p.Thr813Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002963227] |
Chr13:23341439 [GRCh38]
Chr13:23915578 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5099T>C (p.Ile1700Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002649691] |
Chr13:23338777 [GRCh38]
Chr13:23912916 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2982T>C (p.Leu994=) |
single nucleotide variant |
Spastic paraplegia [RCV002810547] |
Chr13:23340894 [GRCh38]
Chr13:23915033 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.903A>G (p.Ala301=) |
single nucleotide variant |
Spastic paraplegia [RCV002647914] |
Chr13:23355709 [GRCh38]
Chr13:23929848 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9266del (p.Pro3089fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003465905]|Spastic paraplegia [RCV003046652] |
Chr13:23334610 [GRCh38]
Chr13:23908749 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.6108A>T (p.Gly2036=) |
single nucleotide variant |
Spastic paraplegia [RCV002577877] |
Chr13:23337768 [GRCh38]
Chr13:23911907 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1067T>C (p.Ile356Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002647249] |
Chr13:23355545 [GRCh38]
Chr13:23929684 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.2016A>G (p.Gln672=) |
single nucleotide variant |
Spastic paraplegia [RCV002899841] |
Chr13:23354596 [GRCh38]
Chr13:23928735 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4276A>G (p.Ile1426Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003091126]|Spastic paraplegia [RCV003091125] |
Chr13:23339600 [GRCh38]
Chr13:23913739 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.12866C>A (p.Ser4289Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002647594] |
Chr13:23331010 [GRCh38]
Chr13:23905149 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1643T>C (p.Val548Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002671445] |
Chr13:23354969 [GRCh38]
Chr13:23929108 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13024C>T (p.Pro4342Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002629582] |
Chr13:23330852 [GRCh38]
Chr13:23904991 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10543G>T (p.Glu3515Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002806928] |
Chr13:23333333 [GRCh38]
Chr13:23907472 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7003A>G (p.Met2335Val) |
single nucleotide variant |
Spastic paraplegia [RCV002628936] |
Chr13:23336873 [GRCh38]
Chr13:23911012 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5151A>G (p.Lys1717=) |
single nucleotide variant |
Spastic paraplegia [RCV003064815] |
Chr13:23338725 [GRCh38]
Chr13:23912864 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10005C>T (p.Asn3335=) |
single nucleotide variant |
Spastic paraplegia [RCV002599571] |
Chr13:23333871 [GRCh38]
Chr13:23908010 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1672C>G (p.Gln558Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003063671] |
Chr13:23354940 [GRCh38]
Chr13:23929079 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3778C>G (p.His1260Asp) |
single nucleotide variant |
Spastic paraplegia [RCV002579989] |
Chr13:23340098 [GRCh38]
Chr13:23914237 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7996A>C (p.Met2666Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002939179] |
Chr13:23335880 [GRCh38]
Chr13:23910019 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002745977] |
Chr13:23338548 [GRCh38]
Chr13:23912687 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3616C>T (p.His1206Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002628151] |
Chr13:23340260 [GRCh38]
Chr13:23914399 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13342C>T (p.Arg4448Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004068458]|Spastic paraplegia [RCV003011481] |
Chr13:23330534 [GRCh38]
Chr13:23904673 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.11100A>G (p.Leu3700=) |
single nucleotide variant |
Spastic paraplegia [RCV003088402] |
Chr13:23332776 [GRCh38]
Chr13:23906915 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004065999]|Spastic paraplegia [RCV002900029]|not provided [RCV003482423] |
Chr13:23335081 [GRCh38]
Chr13:23909220 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8204C>T (p.Ala2735Val) |
single nucleotide variant |
Spastic paraplegia [RCV002632630] |
Chr13:23335672 [GRCh38]
Chr13:23909811 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002933563] |
Chr13:23336291 [GRCh38]
Chr13:23910430 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6278G>A (p.Arg2093His) |
single nucleotide variant |
Spastic paraplegia [RCV002895363] |
Chr13:23337598 [GRCh38]
Chr13:23911737 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5484G>A (p.Glu1828=) |
single nucleotide variant |
Spastic paraplegia [RCV002937138] |
Chr13:23338392 [GRCh38]
Chr13:23912531 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9267T>C (p.Pro3089=) |
single nucleotide variant |
Spastic paraplegia [RCV002899126] |
Chr13:23334609 [GRCh38]
Chr13:23908748 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6629A>G (p.Tyr2210Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002602139] |
Chr13:23337247 [GRCh38]
Chr13:23911386 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.278C>T (p.Thr93Met) |
single nucleotide variant |
Spastic paraplegia [RCV002632311] |
Chr13:23368469 [GRCh38]
Chr13:23942608 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4701del (p.Asp1568fs) |
deletion |
Spastic paraplegia [RCV003028187] |
Chr13:23339175 [GRCh38]
Chr13:23913314 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2786G>A (p.Arg929His) |
single nucleotide variant |
Spastic paraplegia [RCV002806595] |
Chr13:23341090 [GRCh38]
Chr13:23915229 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4361C>G (p.Ser1454Ter) |
single nucleotide variant |
Spastic paraplegia [RCV002833402] |
Chr13:23339515 [GRCh38]
Chr13:23913654 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1775A>G (p.Asn592Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003065267] |
Chr13:23354837 [GRCh38]
Chr13:23928976 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4695T>C (p.His1565=) |
single nucleotide variant |
Spastic paraplegia [RCV002770398] |
Chr13:23339181 [GRCh38]
Chr13:23913320 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12232C>G (p.Arg4078Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002646856] |
Chr13:23331644 [GRCh38]
Chr13:23905783 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8641T>G (p.Phe2881Val) |
single nucleotide variant |
Spastic paraplegia [RCV002807262] |
Chr13:23335235 [GRCh38]
Chr13:23909374 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5576A>G (p.Gln1859Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003090910] |
Chr13:23338300 [GRCh38]
Chr13:23912439 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1859C>T (p.Thr620Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002855153] |
Chr13:23354753 [GRCh38]
Chr13:23928892 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9692G>T (p.Cys3231Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002714312] |
Chr13:23334184 [GRCh38]
Chr13:23908323 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12361A>C (p.Ile4121Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004066122]|Spastic paraplegia [RCV002895944] |
Chr13:23331515 [GRCh38]
Chr13:23905654 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.10521T>C (p.Ala3507=) |
single nucleotide variant |
Spastic paraplegia [RCV003045733] |
Chr13:23333355 [GRCh38]
Chr13:23907494 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.922C>T (p.Leu308Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003062569] |
Chr13:23355690 [GRCh38]
Chr13:23929829 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3396dup (p.Leu1133fs) |
duplication |
Spastic paraplegia [RCV003047042] |
Chr13:23340479..23340480 [GRCh38]
Chr13:23914618..23914619 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2419A>G (p.Ile807Val) |
single nucleotide variant |
Spastic paraplegia [RCV002900206] |
Chr13:23341457 [GRCh38]
Chr13:23915596 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11488T>A (p.Leu3830Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003090490] |
Chr13:23332388 [GRCh38]
Chr13:23906527 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8384A>G (p.Lys2795Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003090498] |
Chr13:23335492 [GRCh38]
Chr13:23909631 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1515T>C (p.Tyr505=) |
single nucleotide variant |
Spastic paraplegia [RCV002939047] |
Chr13:23355097 [GRCh38]
Chr13:23929236 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2358T>G (p.Leu786=) |
single nucleotide variant |
Spastic paraplegia [RCV003063999] |
Chr13:23341518 [GRCh38]
Chr13:23915657 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1837C>G (p.Gln613Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002941487] |
Chr13:23354775 [GRCh38]
Chr13:23928914 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2093+7G>T |
single nucleotide variant |
Spastic paraplegia [RCV003027152] |
Chr13:23354512 [GRCh38]
Chr13:23928651 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1086G>A (p.Lys362=) |
single nucleotide variant |
Spastic paraplegia [RCV002921904] |
Chr13:23355526 [GRCh38]
Chr13:23929665 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5179C>T (p.Pro1727Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003091158] |
Chr13:23338697 [GRCh38]
Chr13:23912836 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8258A>T (p.Asp2753Val) |
single nucleotide variant |
Spastic paraplegia [RCV003091900] |
Chr13:23335618 [GRCh38]
Chr13:23909757 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2104C>T (p.Pro702Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002813257] |
Chr13:23353866 [GRCh38]
Chr13:23928005 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10200C>A (p.Ser3400=) |
single nucleotide variant |
Spastic paraplegia [RCV003045519] |
Chr13:23333676 [GRCh38]
Chr13:23907815 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.866A>C (p.Lys289Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002602374] |
Chr13:23355746 [GRCh38]
Chr13:23929885 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12534G>A (p.Pro4178=) |
single nucleotide variant |
Spastic paraplegia [RCV002671923] |
Chr13:23331342 [GRCh38]
Chr13:23905481 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11522A>G (p.His3841Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002717273] |
Chr13:23332354 [GRCh38]
Chr13:23906493 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8267C>T (p.Thr2756Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003030183] |
Chr13:23335609 [GRCh38]
Chr13:23909748 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4885T>C (p.Leu1629=) |
single nucleotide variant |
Spastic paraplegia [RCV002806935] |
Chr13:23338991 [GRCh38]
Chr13:23913130 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5642G>C (p.Gly1881Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002934137] |
Chr13:23338234 [GRCh38]
Chr13:23912373 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8861A>G (p.Asp2954Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002723917] |
Chr13:23335015 [GRCh38]
Chr13:23909154 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9163G>A (p.Val3055Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003067914] |
Chr13:23334713 [GRCh38]
Chr13:23908852 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.780A>G (p.Thr260=) |
single nucleotide variant |
Spastic paraplegia [RCV003068045] |
Chr13:23355832 [GRCh38]
Chr13:23929971 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12167C>A (p.Thr4056Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003067085] |
Chr13:23331709 [GRCh38]
Chr13:23905848 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2649G>A (p.Met883Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003068575] |
Chr13:23341227 [GRCh38]
Chr13:23915366 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10489T>C (p.Leu3497=) |
single nucleotide variant |
Spastic paraplegia [RCV002721304] |
Chr13:23333387 [GRCh38]
Chr13:23907526 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8702A>G (p.Asn2901Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003052074] |
Chr13:23335174 [GRCh38]
Chr13:23909313 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5104G>A (p.Glu1702Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002942385] |
Chr13:23338772 [GRCh38]
Chr13:23912911 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.346-15A>G |
single nucleotide variant |
Spastic paraplegia [RCV002633483] |
Chr13:23365292 [GRCh38]
Chr13:23939431 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2233C>A (p.Arg745Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003068283] |
Chr13:23341643 [GRCh38]
Chr13:23915782 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10231C>G (p.Pro3411Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002582357] |
Chr13:23333645 [GRCh38]
Chr13:23907784 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4414C>A (p.Pro1472Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003069918] |
Chr13:23339462 [GRCh38]
Chr13:23913601 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11593G>C (p.Glu3865Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003092426] |
Chr13:23332283 [GRCh38]
Chr13:23906422 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2414G>C (p.Arg805Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003050883] |
Chr13:23341462 [GRCh38]
Chr13:23915601 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.3689TTG[2] (p.Val1232del) |
microsatellite |
Spastic paraplegia [RCV003051675] |
Chr13:23340179..23340181 [GRCh38]
Chr13:23914318..23914320 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5262A>G (p.Pro1754=) |
single nucleotide variant |
Spastic paraplegia [RCV002654767] |
Chr13:23338614 [GRCh38]
Chr13:23912753 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1143G>A (p.Glu381=) |
single nucleotide variant |
Spastic paraplegia [RCV002725913] |
Chr13:23355469 [GRCh38]
Chr13:23929608 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5961C>T (p.Ser1987=) |
single nucleotide variant |
Spastic paraplegia [RCV002633429] |
Chr13:23337915 [GRCh38]
Chr13:23912054 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12042A>G (p.Gly4014=) |
single nucleotide variant |
Spastic paraplegia [RCV003067929] |
Chr13:23331834 [GRCh38]
Chr13:23905973 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11578A>G (p.Ile3860Val) |
single nucleotide variant |
Spastic paraplegia [RCV003068522] |
Chr13:23332298 [GRCh38]
Chr13:23906437 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.8254A>G (p.Ile2752Val) |
single nucleotide variant |
Spastic paraplegia [RCV003051338] |
Chr13:23335622 [GRCh38]
Chr13:23909761 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.7955C>T (p.Ala2652Val) |
single nucleotide variant |
Spastic paraplegia [RCV002814843] |
Chr13:23335921 [GRCh38]
Chr13:23910060 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003068596]|not provided [RCV003482438] |
Chr13:23333638 [GRCh38]
Chr13:23907777 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.2548T>C (p.Phe850Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003068294] |
Chr13:23341328 [GRCh38]
Chr13:23915467 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11163T>C (p.Gly3721=) |
single nucleotide variant |
Spastic paraplegia [RCV002721688] |
Chr13:23332713 [GRCh38]
Chr13:23906852 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2062G>A (p.Val688Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002726157] |
Chr13:23354550 [GRCh38]
Chr13:23928689 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7346G>A (p.Gly2449Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003069358] |
Chr13:23336530 [GRCh38]
Chr13:23910669 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4888C>G (p.Pro1630Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004068762]|Spastic paraplegia [RCV002605893] |
Chr13:23338988 [GRCh38]
Chr13:23913127 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7223A>G (p.Asp2408Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003050984]|Spastic paraplegia [RCV003066585] |
Chr13:23336653 [GRCh38]
Chr13:23910792 [GRCh37]
Chr13:13q12.12 |
benign|uncertain significance |
| NM_014363.6(SACS):c.5554C>T (p.Gln1852Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003066103] |
Chr13:23338322 [GRCh38]
Chr13:23912461 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3375G>A (p.Leu1125=) |
single nucleotide variant |
Spastic paraplegia [RCV003093533] |
Chr13:23340501 [GRCh38]
Chr13:23914640 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7009A>G (p.Ile2337Val) |
single nucleotide variant |
Spastic paraplegia [RCV003050759] |
Chr13:23336867 [GRCh38]
Chr13:23911006 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.12286A>G (p.Ile4096Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002652752] |
Chr13:23331590 [GRCh38]
Chr13:23905729 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8803C>T (p.Pro2935Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002944035] |
Chr13:23335073 [GRCh38]
Chr13:23909212 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6747A>G (p.Glu2249=) |
single nucleotide variant |
Spastic paraplegia [RCV003068180] |
Chr13:23337129 [GRCh38]
Chr13:23911268 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003153079] |
Chr13:23338231 [GRCh38]
Chr13:23912370 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4354G>A (p.Glu1452Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003092975] |
Chr13:23339522 [GRCh38]
Chr13:23913661 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13160T>A (p.Phe4387Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003050743] |
Chr13:23330716 [GRCh38]
Chr13:23904855 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11392A>T (p.Met3798Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003068225] |
Chr13:23332484 [GRCh38]
Chr13:23906623 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1034G>A (p.Arg345Gln) |
single nucleotide variant |
Spastic paraplegia [RCV002584057] |
Chr13:23355578 [GRCh38]
Chr13:23929717 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9293T>G (p.Ile3098Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003049649] |
Chr13:23334583 [GRCh38]
Chr13:23908722 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9508_9518del (p.Arg3170fs) |
deletion |
Spastic paraplegia [RCV002942290] |
Chr13:23334358..23334368 [GRCh38]
Chr13:23908497..23908507 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3142G>A (p.Val1048Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002585687] |
Chr13:23340734 [GRCh38]
Chr13:23914873 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11445A>G (p.Leu3815=) |
single nucleotide variant |
Spastic paraplegia [RCV002585688] |
Chr13:23332431 [GRCh38]
Chr13:23906570 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12809C>T (p.Thr4270Ile) |
single nucleotide variant |
Spastic paraplegia [RCV002587498] |
Chr13:23331067 [GRCh38]
Chr13:23905206 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV002585846]|not provided [RCV003481317] |
Chr13:23338414 [GRCh38]
Chr13:23912553 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.9675A>G (p.Glu3225=) |
single nucleotide variant |
Spastic paraplegia [RCV002654089] |
Chr13:23334201 [GRCh38]
Chr13:23908340 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4583C>G (p.Ser1528Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003071598] |
Chr13:23339293 [GRCh38]
Chr13:23913432 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5132C>T (p.Thr1711Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003066420] |
Chr13:23338744 [GRCh38]
Chr13:23912883 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12884C>A (p.Pro4295His) |
single nucleotide variant |
Spastic paraplegia [RCV002654865] |
Chr13:23330992 [GRCh38]
Chr13:23905131 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.427_428del (p.Trp144fs) |
microsatellite |
Spastic paraplegia [RCV003070405] |
Chr13:23365195..23365196 [GRCh38]
Chr13:23939334..23939335 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12974G>A (p.Arg4325Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003071687] |
Chr13:23330902 [GRCh38]
Chr13:23905041 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1880C>T (p.Thr627Met) |
single nucleotide variant |
Spastic paraplegia [RCV003071729] |
Chr13:23354732 [GRCh38]
Chr13:23928871 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.604+20G>A |
single nucleotide variant |
Spastic paraplegia [RCV003066527] |
Chr13:23358315 [GRCh38]
Chr13:23932454 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7325A>G (p.Glu2442Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003068617] |
Chr13:23336551 [GRCh38]
Chr13:23910690 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5989T>A (p.Ser1997Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002584384] |
Chr13:23337887 [GRCh38]
Chr13:23912026 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9142C>T (p.Arg3048Cys) |
single nucleotide variant |
Spastic paraplegia [RCV002586925] |
Chr13:23334734 [GRCh38]
Chr13:23908873 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5802T>C (p.Ser1934=) |
single nucleotide variant |
Spastic paraplegia [RCV002608642] |
Chr13:23338074 [GRCh38]
Chr13:23912213 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6897A>C (p.Glu2299Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003072015] |
Chr13:23336979 [GRCh38]
Chr13:23911118 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003072057] |
Chr13:23331065 [GRCh38]
Chr13:23905204 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.12053T>C (p.Ile4018Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002942156] |
Chr13:23331823 [GRCh38]
Chr13:23905962 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8417T>C (p.Met2806Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003066707] |
Chr13:23335459 [GRCh38]
Chr13:23909598 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.12613A>G (p.Ile4205Val) |
single nucleotide variant |
Spastic paraplegia [RCV003070944] |
Chr13:23331263 [GRCh38]
Chr13:23905402 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5077A>G (p.Met1693Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002607883]|Spastic paraplegia [RCV002607882] |
Chr13:23338799 [GRCh38]
Chr13:23912938 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2572T>G (p.Ser858Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003073299]|not provided [RCV003482440] |
Chr13:23341304 [GRCh38]
Chr13:23915443 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.2075C>A (p.Thr692Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002658035] |
Chr13:23354537 [GRCh38]
Chr13:23928676 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10440C>T (p.His3480=) |
single nucleotide variant |
Spastic paraplegia [RCV002633161] |
Chr13:23333436 [GRCh38]
Chr13:23907575 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13278G>A (p.Gln4426=) |
single nucleotide variant |
Spastic paraplegia [RCV003032101] |
Chr13:23330598 [GRCh38]
Chr13:23904737 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5679A>C (p.Thr1893=) |
single nucleotide variant |
Spastic paraplegia [RCV002584730] |
Chr13:23338197 [GRCh38]
Chr13:23912336 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12380A>G (p.Asn4127Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002585577] |
Chr13:23331496 [GRCh38]
Chr13:23905635 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12787A>G (p.Thr4263Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002606285] |
Chr13:23331089 [GRCh38]
Chr13:23905228 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.9569A>G (p.Asn3190Ser) |
single nucleotide variant |
Spastic paraplegia [RCV002608220] |
Chr13:23334307 [GRCh38]
Chr13:23908446 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9919A>C (p.Met3307Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004070165]|Spastic paraplegia [RCV003066397] |
Chr13:23333957 [GRCh38]
Chr13:23908096 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.8203G>A (p.Ala2735Thr) |
single nucleotide variant |
Spastic paraplegia [RCV002588359] |
Chr13:23335673 [GRCh38]
Chr13:23909812 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4098G>T (p.Leu1366=) |
single nucleotide variant |
Spastic paraplegia [RCV002612929] |
Chr13:23339778 [GRCh38]
Chr13:23913917 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7794A>G (p.Glu2598=) |
single nucleotide variant |
Spastic paraplegia [RCV002588540] |
Chr13:23336082 [GRCh38]
Chr13:23910221 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5357A>G (p.Asp1786Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002942545] |
Chr13:23338519 [GRCh38]
Chr13:23912658 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11774A>T (p.Asp3925Val) |
single nucleotide variant |
Spastic paraplegia [RCV003067866] |
Chr13:23332102 [GRCh38]
Chr13:23906241 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12627A>G (p.Glu4209=) |
single nucleotide variant |
Spastic paraplegia [RCV003067863] |
Chr13:23331249 [GRCh38]
Chr13:23905388 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.411A>G (p.Gln137=) |
single nucleotide variant |
Spastic paraplegia [RCV002605784] |
Chr13:23365212 [GRCh38]
Chr13:23939351 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8062A>G (p.Thr2688Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003071669] |
Chr13:23335814 [GRCh38]
Chr13:23909953 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12416dup (p.Leu4139fs) |
duplication |
Spastic paraplegia [RCV002611287] |
Chr13:23331459..23331460 [GRCh38]
Chr13:23905598..23905599 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10991T>C (p.Ile3664Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003068070] |
Chr13:23332885 [GRCh38]
Chr13:23907024 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2344G>T (p.Val782Phe) |
single nucleotide variant |
Spastic paraplegia [RCV002633950] |
Chr13:23341532 [GRCh38]
Chr13:23915671 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.13674G>A (p.Met4558Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003072087] |
Chr13:23330202 [GRCh38]
Chr13:23904341 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro) |
single nucleotide variant |
Spastic paraplegia [RCV002587228] |
Chr13:23335654 [GRCh38]
Chr13:23909793 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6179T>C (p.Val2060Ala) |
single nucleotide variant |
Spastic paraplegia [RCV002585534]|not provided [RCV003482443] |
Chr13:23337697 [GRCh38]
Chr13:23911836 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.1563C>T (p.Ser521=) |
single nucleotide variant |
Spastic paraplegia [RCV002611713] |
Chr13:23355049 [GRCh38]
Chr13:23929188 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6641G>A (p.Arg2214His) |
single nucleotide variant |
Spastic paraplegia [RCV002944208] |
Chr13:23337235 [GRCh38]
Chr13:23911374 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2106A>G (p.Pro702=) |
single nucleotide variant |
SACS-related condition [RCV003903753]|Spastic paraplegia [RCV002653585] |
Chr13:23353864 [GRCh38]
Chr13:23928003 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4953A>G (p.Gln1651=) |
single nucleotide variant |
Spastic paraplegia [RCV003068411] |
Chr13:23338923 [GRCh38]
Chr13:23913062 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6565T>C (p.Leu2189=) |
single nucleotide variant |
Spastic paraplegia [RCV002611790] |
Chr13:23337311 [GRCh38]
Chr13:23911450 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13146C>T (p.Thr4382=) |
single nucleotide variant |
Spastic paraplegia [RCV002611843] |
Chr13:23330730 [GRCh38]
Chr13:23904869 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6796C>A (p.His2266Asn) |
single nucleotide variant |
Spastic paraplegia [RCV002658405] |
Chr13:23337080 [GRCh38]
Chr13:23911219 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1264A>G (p.Ile422Val) |
single nucleotide variant |
Spastic paraplegia [RCV003070159] |
Chr13:23355348 [GRCh38]
Chr13:23929487 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8258A>G (p.Asp2753Gly) |
single nucleotide variant |
Spastic paraplegia [RCV002609986] |
Chr13:23335618 [GRCh38]
Chr13:23909757 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11177C>A (p.Pro3726Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003093351] |
Chr13:23332699 [GRCh38]
Chr13:23906838 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003465955]|Spastic paraplegia [RCV003072856] |
Chr13:23332600..23332602 [GRCh38]
Chr13:23906739..23906741 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_014363.6(SACS):c.3029_3030insTTAC (p.Gln1011fs) |
insertion |
Spastic paraplegia [RCV003072857] |
Chr13:23340846..23340847 [GRCh38]
Chr13:23914985..23914986 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11258G>A (p.Arg3753Lys) |
single nucleotide variant |
Spastic paraplegia [RCV002587892] |
Chr13:23332618 [GRCh38]
Chr13:23906757 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9668C>T (p.Pro3223Leu) |
single nucleotide variant |
Spastic paraplegia [RCV002612283] |
Chr13:23334208 [GRCh38]
Chr13:23908347 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1065T>C (p.Ala355=) |
single nucleotide variant |
Spastic paraplegia [RCV002612389] |
Chr13:23355547 [GRCh38]
Chr13:23929686 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7602C>T (p.Ser2534=) |
single nucleotide variant |
Spastic paraplegia [RCV002604142] |
Chr13:23336274 [GRCh38]
Chr13:23910413 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12358T>G (p.Leu4120Val) |
single nucleotide variant |
Spastic paraplegia [RCV002612608] |
Chr13:23331518 [GRCh38]
Chr13:23905657 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9389A>G (p.His3130Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003069124] |
Chr13:23334487 [GRCh38]
Chr13:23908626 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12000A>G (p.Gly4000=) |
single nucleotide variant |
Spastic paraplegia [RCV002590210] |
Chr13:23331876 [GRCh38]
Chr13:23906015 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1196G>C (p.Gly399Ala) |
single nucleotide variant |
not provided [RCV003154484] |
Chr13:23355416 [GRCh38]
Chr13:23929555 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2185+1G>T |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003227588] |
Chr13:23353784 [GRCh38]
Chr13:23927923 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4730dup (p.Met1578fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003133877] |
Chr13:23339145..23339146 [GRCh38]
Chr13:23913284..23913285 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4784A>G (p.Lys1595Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003219802] |
Chr13:23339092 [GRCh38]
Chr13:23913231 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5006T>C (p.Ile1669Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003215827] |
Chr13:23338870 [GRCh38]
Chr13:23913009 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003226800] |
Chr13:23335083..23335086 [GRCh38]
Chr13:23909222..23909225 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV003226801] |
Chr13:23338866..23338868 [GRCh38]
Chr13:23913005..23913007 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11826G>T (p.Met3942Ile) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003142726] |
Chr13:23332050 [GRCh38]
Chr13:23906189 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003142727] |
Chr13:23339770 [GRCh38]
Chr13:23913909 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1990C>T (p.Leu664Phe) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003142728] |
Chr13:23354622 [GRCh38]
Chr13:23928761 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003142729] |
Chr13:23336654 [GRCh38]
Chr13:23910793 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV003142730] |
Chr13:23332195..23332197 [GRCh38]
Chr13:23906334..23906336 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9108A>C (p.Gln3036His) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003142731] |
Chr13:23334768 [GRCh38]
Chr13:23908907 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8647G>A (p.Val2883Met) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003142732] |
Chr13:23335229 [GRCh38]
Chr13:23909368 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.980A>C (p.Glu327Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003214436] |
Chr13:23355632 [GRCh38]
Chr13:23929771 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9311del (p.Thr3104fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003324177] |
Chr13:23334565 [GRCh38]
Chr13:23908704 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003329139] |
Chr13:23336770 [GRCh38]
Chr13:23910909 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4349G>T (p.Gly1450Val) |
single nucleotide variant |
not provided [RCV003398332] |
Chr13:23339527 [GRCh38]
Chr13:23913666 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12673T>C (p.Tyr4225His) |
single nucleotide variant |
Inborn genetic diseases [RCV003374507] |
Chr13:23331203 [GRCh38]
Chr13:23905342 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10730C>A (p.Thr3577Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003383838] |
Chr13:23333146 [GRCh38]
Chr13:23907285 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.34A>G (p.Thr12Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003369563] |
Chr13:23375256 [GRCh38]
Chr13:23949395 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8006A>G (p.Asp2669Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003376714] |
Chr13:23335870 [GRCh38]
Chr13:23910009 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472570] |
Chr13:23339089..23339093 [GRCh38]
Chr13:23913228..23913232 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003472579] |
Chr13:23339113..23339114 [GRCh38]
Chr13:23913252..23913253 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8169C>A (p.Val2723=) |
single nucleotide variant |
Spastic paraplegia [RCV003873731] |
Chr13:23335707 [GRCh38]
Chr13:23909846 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.314G>A (p.Arg105Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003873891] |
Chr13:23368433 [GRCh38]
Chr13:23942572 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8520C>T (p.His2840=) |
single nucleotide variant |
Spastic paraplegia [RCV003875606] |
Chr13:23335356 [GRCh38]
Chr13:23909495 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1186A>G (p.Asn396Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003875107] |
Chr13:23355426 [GRCh38]
Chr13:23929565 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1028A>G (p.His343Arg) |
single nucleotide variant |
not provided [RCV003482819] |
Chr13:23355584 [GRCh38]
Chr13:23929723 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6411G>A (p.Gln2137=) |
single nucleotide variant |
Spastic paraplegia [RCV003874037] |
Chr13:23337465 [GRCh38]
Chr13:23911604 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2503C>T (p.Gln835Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466314] |
Chr13:23341373 [GRCh38]
Chr13:23915512 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.155G>A (p.Trp52Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466321] |
Chr13:23375135 [GRCh38]
Chr13:23949274 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11302del (p.Thr3768fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466322] |
Chr13:23332574 [GRCh38]
Chr13:23906713 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.171+1G>A |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466330] |
Chr13:23375118 [GRCh38]
Chr13:23949257 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466340] |
Chr13:23332272..23332275 [GRCh38]
Chr13:23906411..23906414 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466342] |
Chr13:23331078..23331081 [GRCh38]
Chr13:23905217..23905220 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466343] |
Chr13:23330557 [GRCh38]
Chr13:23904696 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.604+1_604+4del |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466345] |
Chr13:23358331..23358334 [GRCh38]
Chr13:23932470..23932473 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003466371] |
Chr13:23339640..23339643 [GRCh38]
Chr13:23913779..23913782 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12523_12541del (p.Val4175fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466372] |
Chr13:23331335..23331353 [GRCh38]
Chr13:23905474..23905492 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.257del (p.Gly86fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466374] |
Chr13:23371080 [GRCh38]
Chr13:23945219 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466375] |
Chr13:23335805 [GRCh38]
Chr13:23909944 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.388A>T (p.Lys130Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466379] |
Chr13:23365235 [GRCh38]
Chr13:23939374 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.172-11C>T |
single nucleotide variant |
Spastic paraplegia [RCV003874324] |
Chr13:23371176 [GRCh38]
Chr13:23945315 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2112T>G (p.Leu704=) |
single nucleotide variant |
Spastic paraplegia [RCV003873020] |
Chr13:23353858 [GRCh38]
Chr13:23927997 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003466309] |
Chr13:23339354..23339355 [GRCh38]
Chr13:23913493..23913494 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4760A>G (p.His1587Arg) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466323] |
Chr13:23339116 [GRCh38]
Chr13:23913255 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1229T>A (p.Leu410Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466325]|Spastic paraplegia [RCV003779104] |
Chr13:23355383 [GRCh38]
Chr13:23929522 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003466334] |
Chr13:23333820..23333821 [GRCh38]
Chr13:23907959..23907960 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12471dup (p.Thr4158fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466335] |
Chr13:23331404..23331405 [GRCh38]
Chr13:23905543..23905544 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9660dup (p.Val3221fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466336] |
Chr13:23334215..23334216 [GRCh38]
Chr13:23908354..23908355 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003466347] |
Chr13:23335501..23335502 [GRCh38]
Chr13:23909640..23909641 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466348] |
Chr13:23338681 [GRCh38]
Chr13:23912820 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466381]|Spastic paraplegia [RCV003779105] |
Chr13:23340746 [GRCh38]
Chr13:23914885 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.4491_4494del (p.Ile1497_Asp1498insTer) |
microsatellite |
not specified [RCV003488821] |
Chr13:23339382..23339385 [GRCh38]
Chr13:23913521..23913524 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12860del (p.Lys4287fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472583] |
Chr13:23331016 [GRCh38]
Chr13:23905155 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003472585] |
Chr13:23331729 [GRCh38]
Chr13:23905868 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2630T>A (p.Leu877Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003472587] |
Chr13:23341246 [GRCh38]
Chr13:23915385 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472586] |
Chr13:23354646..23354647 [GRCh38]
Chr13:23928785..23928786 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12271T>C (p.Ser4091Pro) |
single nucleotide variant |
not provided [RCV003482090] |
Chr13:23331605 [GRCh38]
Chr13:23905744 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.654del (p.Gln219fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466333] |
Chr13:23355958 [GRCh38]
Chr13:23930097 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466362] |
Chr13:23338474 [GRCh38]
Chr13:23912613 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003466377] |
Chr13:23334212..23334213 [GRCh38]
Chr13:23908351..23908352 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3218dup (p.Pro1075fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466351] |
Chr13:23340657..23340658 [GRCh38]
Chr13:23914796..23914797 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2428G>C (p.Glu810Gln) |
single nucleotide variant |
not provided [RCV003482821] |
Chr13:23341448 [GRCh38]
Chr13:23915587 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2465T>G (p.Ile822Ser) |
single nucleotide variant |
not provided [RCV003482822] |
Chr13:23341411 [GRCh38]
Chr13:23915550 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe) |
single nucleotide variant |
not provided [RCV003482825] |
Chr13:23338535 [GRCh38]
Chr13:23912674 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7116del (p.Gln2373fs) |
deletion |
not provided [RCV003482827] |
Chr13:23336760 [GRCh38]
Chr13:23910899 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003750977]|not provided [RCV003482829] |
Chr13:23335883 [GRCh38]
Chr13:23910022 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003472568] |
Chr13:23339452 [GRCh38]
Chr13:23913591 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV003472571] |
Chr13:23355714..23355716 [GRCh38]
Chr13:23929853..23929855 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3684dup (p.Lys1229Ter) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003472573] |
Chr13:23340191..23340192 [GRCh38]
Chr13:23914330..23914331 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472582] |
Chr13:23339160 [GRCh38]
Chr13:23913299 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472584] |
Chr13:23332467..23332470 [GRCh38]
Chr13:23906606..23906609 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003472574] |
Chr13:23339930 [GRCh38]
Chr13:23914069 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472575] |
Chr13:23334114 [GRCh38]
Chr13:23908253 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8070del (p.Phe2690fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472576] |
Chr13:23335806 [GRCh38]
Chr13:23909945 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2894C>T (p.Ser965Leu) |
single nucleotide variant |
not provided [RCV003482094] |
Chr13:23340982 [GRCh38]
Chr13:23915121 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_000231.3(SGCG):c.*54C>T |
single nucleotide variant |
Sarcoglycanopathy [RCV001114523]|not provided [RCV001593276] |
Chr13:23324595 [GRCh38]
Chr13:23898734 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4496T>C (p.Met1499Thr) |
single nucleotide variant |
not provided [RCV003482824] |
Chr13:23339380 [GRCh38]
Chr13:23913519 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala) |
single nucleotide variant |
not provided [RCV003482830] |
Chr13:23335450 [GRCh38]
Chr13:23909589 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9293del (p.Ile3098fs) |
deletion |
not provided [RCV003481811] |
Chr13:23334583 [GRCh38]
Chr13:23908722 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6008A>C (p.Asp2003Ala) |
single nucleotide variant |
not provided [RCV003482093] |
Chr13:23337868 [GRCh38]
Chr13:23912007 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1485T>G (p.Phe495Leu) |
single nucleotide variant |
not provided [RCV003482820] |
Chr13:23355127 [GRCh38]
Chr13:23929266 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2562A>T (p.Lys854Asn) |
single nucleotide variant |
not provided [RCV003482823] |
Chr13:23341314 [GRCh38]
Chr13:23915453 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466310] |
Chr13:23334043 [GRCh38]
Chr13:23908182 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.172-2A>G |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466312] |
Chr13:23371167 [GRCh38]
Chr13:23945306 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466313] |
Chr13:23338361 [GRCh38]
Chr13:23912500 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466316] |
Chr13:23335469..23335472 [GRCh38]
Chr13:23909608..23909611 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466318]|Spastic paraplegia [RCV003750973] |
Chr13:23338468..23338471 [GRCh38]
Chr13:23912607..23912610 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.13112dup (p.Asn4371fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466328] |
Chr13:23330763..23330764 [GRCh38]
Chr13:23904902..23904903 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2291G>A (p.Trp764Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466332] |
Chr13:23341585 [GRCh38]
Chr13:23915724 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3557del (p.Met1186fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466337] |
Chr13:23340319 [GRCh38]
Chr13:23914458 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9119del (p.Asn3040fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466346] |
Chr13:23334757 [GRCh38]
Chr13:23908896 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466358] |
Chr13:23331498 [GRCh38]
Chr13:23905637 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466355]|Spastic paraplegia [RCV003588925] |
Chr13:23334770 [GRCh38]
Chr13:23908909 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.8807del (p.Gly2936fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466361]|Spastic paraplegia [RCV003588926] |
Chr13:23335069 [GRCh38]
Chr13:23909208 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.708del (p.Asp236fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466363] |
Chr13:23355904 [GRCh38]
Chr13:23930043 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11191del (p.Glu3731fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466326] |
Chr13:23332685 [GRCh38]
Chr13:23906824 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2176C>T (p.Gln726Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003472572] |
Chr13:23353794 [GRCh38]
Chr13:23927933 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9851del (p.Thr3284fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472580] |
Chr13:23334025 [GRCh38]
Chr13:23908164 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466317] |
Chr13:23331168..23331169 [GRCh38]
Chr13:23905307..23905308 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1894C>T (p.Arg632Trp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466338]|Spastic paraplegia [RCV003588923] |
Chr13:23354718 [GRCh38]
Chr13:23928857 [GRCh37]
Chr13:13q12.12 |
likely pathogenic|likely benign |
| NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466350] |
Chr13:23330959..23331106 [GRCh38]
Chr13:23905098..23905245 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466352]|Spastic paraplegia [RCV003588924] |
Chr13:23337827..23337831 [GRCh38]
Chr13:23911966..23911970 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466357] |
Chr13:23331503 [GRCh38]
Chr13:23905642 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.239C>G (p.Ser80Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466369] |
Chr13:23371098 [GRCh38]
Chr13:23945237 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12138A>G (p.Lys4046=) |
single nucleotide variant |
not provided [RCV003398331] |
Chr13:23331738 [GRCh38]
Chr13:23905877 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3642G>T (p.Gly1214=) |
single nucleotide variant |
not provided [RCV003398334] |
Chr13:23340234 [GRCh38]
Chr13:23914373 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13660T>A (p.Ser4554Thr) |
single nucleotide variant |
SACS-related condition [RCV003405847] |
Chr13:23330216 [GRCh38]
Chr13:23904355 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala) |
single nucleotide variant |
not provided [RCV003482828] |
Chr13:23336045 [GRCh38]
Chr13:23910184 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8374A>T (p.Arg2792Trp) |
single nucleotide variant |
not provided [RCV003482092] |
Chr13:23335502 [GRCh38]
Chr13:23909641 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.8148del (p.Pro2717fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003472569]|Spastic paraplegia [RCV003750974] |
Chr13:23335728 [GRCh38]
Chr13:23909867 [GRCh37]
Chr13:13q12.12 |
pathogenic|likely pathogenic |
| NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466311] |
Chr13:23333231 [GRCh38]
Chr13:23907370 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466320] |
Chr13:23336617..23336621 [GRCh38]
Chr13:23910756..23910760 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466327] |
Chr13:23339438 [GRCh38]
Chr13:23913577 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.351_354del (p.Leu117fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003466339] |
Chr13:23365269..23365272 [GRCh38]
Chr13:23939408..23939411 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8239dup (p.Ile2747fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466341] |
Chr13:23335636..23335637 [GRCh38]
Chr13:23909775..23909776 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003466354] |
Chr13:23333339..23333340 [GRCh38]
Chr13:23907478..23907479 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11946del (p.Asp3983fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466356] |
Chr13:23331930 [GRCh38]
Chr13:23906069 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466370] |
Chr13:23334500 [GRCh38]
Chr13:23908639 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12905C>G (p.Ser4302Cys) |
single nucleotide variant |
not provided [RCV003443981] |
Chr13:23330971 [GRCh38]
Chr13:23905110 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4884del (p.Gln1628fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466315] |
Chr13:23338992 [GRCh38]
Chr13:23913131 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3806_3809del (p.Ser1269fs) |
deletion |
not provided [RCV003398333] |
Chr13:23340067..23340070 [GRCh38]
Chr13:23914206..23914209 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466344] |
Chr13:23332589..23332590 [GRCh38]
Chr13:23906728..23906729 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.2396_2399dup (p.Met800fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466353] |
Chr13:23341476..23341477 [GRCh38]
Chr13:23915615..23915616 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.1189dup (p.Ser397fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466364]|Spastic paraplegia [RCV003588927] |
Chr13:23355422..23355423 [GRCh38]
Chr13:23929561..23929562 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2620del (p.Ser874fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003466368] |
Chr13:23341256 [GRCh38]
Chr13:23915395 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466373] |
Chr13:23330442..23330443 [GRCh38]
Chr13:23904581..23904582 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.11361dup (p.Arg3788fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466376] |
Chr13:23332514..23332515 [GRCh38]
Chr13:23906653..23906654 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12529dup (p.Tyr4177fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466378] |
Chr13:23331346..23331347 [GRCh38]
Chr13:23905485..23905486 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003388663] |
Chr13:23335110..23335111 [GRCh38]
Chr13:23909249..23909250 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.579G>A (p.Gly193=) |
single nucleotide variant |
not provided [RCV003410984] |
Chr13:23358360 [GRCh38]
Chr13:23932499 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5037T>A (p.Cys1679Ter) |
single nucleotide variant |
not provided [RCV003410983] |
Chr13:23338839 [GRCh38]
Chr13:23912978 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5786G>A (p.Arg1929Gln) |
single nucleotide variant |
not provided [RCV003410982] |
Chr13:23338090 [GRCh38]
Chr13:23912229 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1162C>T (p.Gln388Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466319] |
Chr13:23355450 [GRCh38]
Chr13:23929589 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.5809dup (p.Leu1937fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466329] |
Chr13:23338066..23338067 [GRCh38]
Chr13:23912205..23912206 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466359] |
Chr13:23339065 [GRCh38]
Chr13:23913204 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003466365] |
Chr13:23338922 [GRCh38]
Chr13:23913061 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV003466366] |
Chr13:23341686..23341687 [GRCh38]
Chr13:23915825..23915826 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003466367] |
Chr13:23332928..23332929 [GRCh38]
Chr13:23907067..23907068 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6502G>T (p.Val2168Leu) |
single nucleotide variant |
not provided [RCV003442693] |
Chr13:23337374 [GRCh38]
Chr13:23911513 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10941A>G (p.Glu3647=) |
single nucleotide variant |
Spastic paraplegia [RCV003849187] |
Chr13:23332935 [GRCh38]
Chr13:23907074 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12471C>T (p.Gly4157=) |
single nucleotide variant |
Spastic paraplegia [RCV003876255] |
Chr13:23331405 [GRCh38]
Chr13:23905544 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.843A>G (p.Gln281=) |
single nucleotide variant |
Spastic paraplegia [RCV003828072] |
Chr13:23355769 [GRCh38]
Chr13:23929908 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3582C>T (p.Leu1194=) |
single nucleotide variant |
Spastic paraplegia [RCV003882663] |
Chr13:23340294 [GRCh38]
Chr13:23914433 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11576G>T (p.Arg3859Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003825302] |
Chr13:23332300 [GRCh38]
Chr13:23906439 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.15G>A (p.Glu5=) |
single nucleotide variant |
Spastic paraplegia [RCV003879257] |
Chr13:23411225 [GRCh38]
Chr13:23985364 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13341A>G (p.Ala4447=) |
single nucleotide variant |
Spastic paraplegia [RCV003879284] |
Chr13:23330535 [GRCh38]
Chr13:23904674 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1085A>G (p.Lys362Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003881433] |
Chr13:23355527 [GRCh38]
Chr13:23929666 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4986G>C (p.Thr1662=) |
single nucleotide variant |
Spastic paraplegia [RCV003828391] |
Chr13:23338890 [GRCh38]
Chr13:23913029 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8778A>G (p.Leu2926=) |
single nucleotide variant |
Spastic paraplegia [RCV003877270] |
Chr13:23335098 [GRCh38]
Chr13:23909237 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2360A>G (p.Tyr787Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003825294] |
Chr13:23341516 [GRCh38]
Chr13:23915655 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1806C>T (p.Ala602=) |
single nucleotide variant |
Spastic paraplegia [RCV003877776] |
Chr13:23354806 [GRCh38]
Chr13:23928945 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11371T>A (p.Leu3791Met) |
single nucleotide variant |
Spastic paraplegia [RCV003876340] |
Chr13:23332505 [GRCh38]
Chr13:23906644 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4654A>C (p.Lys1552Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003830353] |
Chr13:23339222 [GRCh38]
Chr13:23913361 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.6907T>A (p.Ser2303Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003876751] |
Chr13:23336969 [GRCh38]
Chr13:23911108 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13725G>A (p.Met4575Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003828863] |
Chr13:23330151 [GRCh38]
Chr13:23904290 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9601T>C (p.Leu3201=) |
single nucleotide variant |
Spastic paraplegia [RCV003880116] |
Chr13:23334275 [GRCh38]
Chr13:23908414 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11017G>A (p.Val3673Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003880121] |
Chr13:23332859 [GRCh38]
Chr13:23906998 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13270G>C (p.Ala4424Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003877625] |
Chr13:23330606 [GRCh38]
Chr13:23904745 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11652G>C (p.Leu3884=) |
single nucleotide variant |
Spastic paraplegia [RCV003877735] |
Chr13:23332224 [GRCh38]
Chr13:23906363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1654C>T (p.Leu552=) |
single nucleotide variant |
Spastic paraplegia [RCV003828000] |
Chr13:23354958 [GRCh38]
Chr13:23929097 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12379A>G (p.Asn4127Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003876484] |
Chr13:23331497 [GRCh38]
Chr13:23905636 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2247A>G (p.Glu749=) |
single nucleotide variant |
Spastic paraplegia [RCV003878727] |
Chr13:23341629 [GRCh38]
Chr13:23915768 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5991T>C (p.Ser1997=) |
single nucleotide variant |
Spastic paraplegia [RCV003878748] |
Chr13:23337885 [GRCh38]
Chr13:23912024 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13722T>C (p.Phe4574=) |
single nucleotide variant |
Spastic paraplegia [RCV003881374] |
Chr13:23330154 [GRCh38]
Chr13:23904293 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9903G>C (p.Leu3301=) |
single nucleotide variant |
Spastic paraplegia [RCV003877415] |
Chr13:23333973 [GRCh38]
Chr13:23908112 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.81G>A (p.Ala27=) |
single nucleotide variant |
Spastic paraplegia [RCV003751093] |
Chr13:23375209 [GRCh38]
Chr13:23949348 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1887G>C (p.Ala629=) |
single nucleotide variant |
Spastic paraplegia [RCV003751151] |
Chr13:23354725 [GRCh38]
Chr13:23928864 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-11G>A |
single nucleotide variant |
Spastic paraplegia [RCV003750433] |
Chr13:23375280 [GRCh38]
Chr13:23949419 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11045del (p.Phe3682fs) |
deletion |
Spastic paraplegia [RCV003750444] |
Chr13:23332831 [GRCh38]
Chr13:23906970 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13133G>A (p.Arg4378Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003750446] |
Chr13:23330743 [GRCh38]
Chr13:23904882 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4069C>A (p.His1357Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003750366] |
Chr13:23339807 [GRCh38]
Chr13:23913946 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9386T>C (p.Phe3129Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003750464] |
Chr13:23334490 [GRCh38]
Chr13:23908629 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2851C>G (p.His951Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003750474] |
Chr13:23341025 [GRCh38]
Chr13:23915164 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1992T>G (p.Leu664=) |
single nucleotide variant |
Spastic paraplegia [RCV003750476] |
Chr13:23354620 [GRCh38]
Chr13:23928759 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.519A>G (p.Gln173=) |
single nucleotide variant |
Spastic paraplegia [RCV003751445] |
Chr13:23358420 [GRCh38]
Chr13:23932559 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10115dup (p.Thr3373fs) |
duplication |
Spastic paraplegia [RCV003751382] |
Chr13:23333760..23333761 [GRCh38]
Chr13:23907899..23907900 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5182G>A (p.Val1728Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003751478] |
Chr13:23338694 [GRCh38]
Chr13:23912833 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.172-18T>G |
single nucleotide variant |
Spastic paraplegia [RCV003751428] |
Chr13:23371183 [GRCh38]
Chr13:23945322 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10520C>G (p.Ala3507Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003750482] |
Chr13:23333356 [GRCh38]
Chr13:23907495 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8272G>A (p.Ala2758Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003750484] |
Chr13:23335604 [GRCh38]
Chr13:23909743 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8809T>A (p.Ser2937Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003750499] |
Chr13:23335067 [GRCh38]
Chr13:23909206 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3650C>G (p.Thr1217Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750549] |
Chr13:23340226 [GRCh38]
Chr13:23914365 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9528A>G (p.Thr3176=) |
single nucleotide variant |
Spastic paraplegia [RCV003834843] |
Chr13:23334348 [GRCh38]
Chr13:23908487 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.96_105dup (p.Glu36fs) |
duplication |
Spastic paraplegia [RCV003849384] |
Chr13:23375184..23375185 [GRCh38]
Chr13:23949323..23949324 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3564T>C (p.Asp1188=) |
single nucleotide variant |
Spastic paraplegia [RCV003833809] |
Chr13:23340312 [GRCh38]
Chr13:23914451 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1215T>C (p.Ser405=) |
single nucleotide variant |
Spastic paraplegia [RCV003833935] |
Chr13:23355397 [GRCh38]
Chr13:23929536 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8532T>C (p.Asp2844=) |
single nucleotide variant |
Spastic paraplegia [RCV003811410] |
Chr13:23335344 [GRCh38]
Chr13:23909483 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10134A>G (p.Lys3378=) |
single nucleotide variant |
Spastic paraplegia [RCV003832143] |
Chr13:23333742 [GRCh38]
Chr13:23907881 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5229C>T (p.Ser1743=) |
single nucleotide variant |
Spastic paraplegia [RCV003833164] |
Chr13:23338647 [GRCh38]
Chr13:23912786 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12435T>C (p.Ser4145=) |
single nucleotide variant |
Spastic paraplegia [RCV003751241] |
Chr13:23331441 [GRCh38]
Chr13:23905580 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5863G>T (p.Asp1955Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003750595] |
Chr13:23338013 [GRCh38]
Chr13:23912152 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7217C>A (p.Ser2406Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003750601] |
Chr13:23336659 [GRCh38]
Chr13:23910798 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7233A>G (p.Arg2411=) |
single nucleotide variant |
Spastic paraplegia [RCV003850807] |
Chr13:23336643 [GRCh38]
Chr13:23910782 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2565A>C (p.Leu855Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003751298] |
Chr13:23341311 [GRCh38]
Chr13:23915450 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12533C>A (p.Pro4178Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003751300] |
Chr13:23331343 [GRCh38]
Chr13:23905482 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7638G>A (p.Leu2546=) |
single nucleotide variant |
Spastic paraplegia [RCV003751239] |
Chr13:23336238 [GRCh38]
Chr13:23910377 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3569G>C (p.Gly1190Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003751355] |
Chr13:23340307 [GRCh38]
Chr13:23914446 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10106T>G (p.Val3369Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003751362] |
Chr13:23333770 [GRCh38]
Chr13:23907909 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.13046A>G (p.Asn4349Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003751302] |
Chr13:23330830 [GRCh38]
Chr13:23904969 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.313A>C (p.Arg105=) |
single nucleotide variant |
Spastic paraplegia [RCV003751408] |
Chr13:23368434 [GRCh38]
Chr13:23942573 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10825G>A (p.Val3609Met) |
single nucleotide variant |
Spastic paraplegia [RCV003751378] |
Chr13:23333051 [GRCh38]
Chr13:23907190 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7893T>C (p.His2631=) |
single nucleotide variant |
Spastic paraplegia [RCV003750566] |
Chr13:23335983 [GRCh38]
Chr13:23910122 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13573A>G (p.Thr4525Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003750621] |
Chr13:23330303 [GRCh38]
Chr13:23904442 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12969G>T (p.Ser4323=) |
single nucleotide variant |
Spastic paraplegia [RCV003750626] |
Chr13:23330907 [GRCh38]
Chr13:23905046 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.172-4dup |
duplication |
Spastic paraplegia [RCV003750635] |
Chr13:23371168..23371169 [GRCh38]
Chr13:23945307..23945308 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4186C>A (p.His1396Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003750607] |
Chr13:23339690 [GRCh38]
Chr13:23913829 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3224C>T (p.Pro1075Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003750613] |
Chr13:23340652 [GRCh38]
Chr13:23914791 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9858T>G (p.Phe3286Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003750669] |
Chr13:23334018 [GRCh38]
Chr13:23908157 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3336C>T (p.Ala1112=) |
single nucleotide variant |
Spastic paraplegia [RCV003851796] |
Chr13:23340540 [GRCh38]
Chr13:23914679 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2093+19A>G |
single nucleotide variant |
Spastic paraplegia [RCV003750649] |
Chr13:23354500 [GRCh38]
Chr13:23928639 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2469A>G (p.Pro823=) |
single nucleotide variant |
Spastic paraplegia [RCV003750678] |
Chr13:23341407 [GRCh38]
Chr13:23915546 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5703A>G (p.Lys1901=) |
single nucleotide variant |
Spastic paraplegia [RCV003750721] |
Chr13:23338173 [GRCh38]
Chr13:23912312 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9791C>A (p.Thr3264Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003750727] |
Chr13:23334085 [GRCh38]
Chr13:23908224 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13320G>T (p.Ser4440=) |
single nucleotide variant |
Spastic paraplegia [RCV003751605] |
Chr13:23330556 [GRCh38]
Chr13:23904695 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-15C>T |
single nucleotide variant |
Spastic paraplegia [RCV003751571] |
Chr13:23358496 [GRCh38]
Chr13:23932635 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3642G>A (p.Gly1214=) |
single nucleotide variant |
Spastic paraplegia [RCV003751179] |
Chr13:23340234 [GRCh38]
Chr13:23914373 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13308C>A (p.Pro4436=) |
single nucleotide variant |
Spastic paraplegia [RCV003751287] |
Chr13:23330568 [GRCh38]
Chr13:23904707 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.956A>T (p.Tyr319Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003751297] |
Chr13:23355656 [GRCh38]
Chr13:23929795 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.10089G>A (p.Lys3363=) |
single nucleotide variant |
Spastic paraplegia [RCV003751366] |
Chr13:23333787 [GRCh38]
Chr13:23907926 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13143A>G (p.Ser4381=) |
single nucleotide variant |
Spastic paraplegia [RCV003834426] |
Chr13:23330733 [GRCh38]
Chr13:23904872 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2181C>T (p.Thr727=) |
single nucleotide variant |
Spastic paraplegia [RCV003750749] |
Chr13:23353789 [GRCh38]
Chr13:23927928 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2670T>C (p.Asn890=) |
single nucleotide variant |
Spastic paraplegia [RCV003751228] |
Chr13:23341206 [GRCh38]
Chr13:23915345 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1693del (p.Ile565fs) |
deletion |
Spastic paraplegia [RCV003751257] |
Chr13:23354919 [GRCh38]
Chr13:23929058 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12916A>G (p.Ile4306Val) |
single nucleotide variant |
Spastic paraplegia [RCV003835930] |
Chr13:23330960 [GRCh38]
Chr13:23905099 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7636T>C (p.Leu2546=) |
single nucleotide variant |
Spastic paraplegia [RCV003751320] |
Chr13:23336240 [GRCh38]
Chr13:23910379 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11749G>A (p.Val3917Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003849898] |
Chr13:23332127 [GRCh38]
Chr13:23906266 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5173A>G (p.Asn1725Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003751430] |
Chr13:23338703 [GRCh38]
Chr13:23912842 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12456A>G (p.Glu4152=) |
single nucleotide variant |
Spastic paraplegia [RCV003750995] |
Chr13:23331420 [GRCh38]
Chr13:23905559 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.285A>G (p.Pro95=) |
single nucleotide variant |
Spastic paraplegia [RCV003750774] |
Chr13:23368462 [GRCh38]
Chr13:23942601 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10194G>T (p.Leu3398Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003751591] |
Chr13:23333682 [GRCh38]
Chr13:23907821 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1779C>T (p.Tyr593=) |
single nucleotide variant |
Spastic paraplegia [RCV003751596] |
Chr13:23354833 [GRCh38]
Chr13:23928972 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.727C>G (p.Leu243Val) |
single nucleotide variant |
Spastic paraplegia [RCV003751601] |
Chr13:23355885 [GRCh38]
Chr13:23930024 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6092C>T (p.Ser2031Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003751607] |
Chr13:23337784 [GRCh38]
Chr13:23911923 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7426G>A (p.Val2476Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003750308] |
Chr13:23336450 [GRCh38]
Chr13:23910589 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+14G>A |
single nucleotide variant |
Spastic paraplegia [RCV003750340] |
Chr13:23375105 [GRCh38]
Chr13:23949244 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3876T>C (p.Ile1292=) |
single nucleotide variant |
Spastic paraplegia [RCV003750362] |
Chr13:23340000 [GRCh38]
Chr13:23914139 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12682G>A (p.Asp4228Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003751067] |
Chr13:23331194 [GRCh38]
Chr13:23905333 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7710T>C (p.His2570=) |
single nucleotide variant |
Spastic paraplegia [RCV003751082] |
Chr13:23336166 [GRCh38]
Chr13:23910305 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1113A>G (p.Val371=) |
single nucleotide variant |
Spastic paraplegia [RCV003751035] |
Chr13:23355499 [GRCh38]
Chr13:23929638 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8619T>C (p.Leu2873=) |
single nucleotide variant |
Spastic paraplegia [RCV003751095] |
Chr13:23335257 [GRCh38]
Chr13:23909396 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6637A>G (p.Ile2213Val) |
single nucleotide variant |
Spastic paraplegia [RCV003751096] |
Chr13:23337239 [GRCh38]
Chr13:23911378 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5937C>T (p.Phe1979=) |
single nucleotide variant |
Spastic paraplegia [RCV003751101] |
Chr13:23337939 [GRCh38]
Chr13:23912078 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9390T>C (p.His3130=) |
single nucleotide variant |
Spastic paraplegia [RCV003751111] |
Chr13:23334486 [GRCh38]
Chr13:23908625 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11146A>G (p.Ile3716Val) |
single nucleotide variant |
Spastic paraplegia [RCV003751116] |
Chr13:23332730 [GRCh38]
Chr13:23906869 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1872G>A (p.Arg624=) |
single nucleotide variant |
Spastic paraplegia [RCV003751061] |
Chr13:23354740 [GRCh38]
Chr13:23928879 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5376C>A (p.Leu1792=) |
single nucleotide variant |
Spastic paraplegia [RCV003751119] |
Chr13:23338500 [GRCh38]
Chr13:23912639 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9948G>A (p.Gln3316=) |
single nucleotide variant |
Spastic paraplegia [RCV003751074] |
Chr13:23333928 [GRCh38]
Chr13:23908067 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4652A>G (p.Asp1551Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003751450] |
Chr13:23339224 [GRCh38]
Chr13:23913363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5550A>T (p.Gly1850=) |
single nucleotide variant |
Spastic paraplegia [RCV003836168] |
Chr13:23338326 [GRCh38]
Chr13:23912465 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6143A>G (p.Glu2048Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003751541] |
Chr13:23337733 [GRCh38]
Chr13:23911872 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9850A>G (p.Thr3284Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003751552] |
Chr13:23334026 [GRCh38]
Chr13:23908165 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3357T>C (p.Pro1119=) |
single nucleotide variant |
Spastic paraplegia [RCV003751979] |
Chr13:23340519 [GRCh38]
Chr13:23914658 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12896A>G (p.Lys4299Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003752051] |
Chr13:23330980 [GRCh38]
Chr13:23905119 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1121_1122del (p.His374fs) |
deletion |
Spastic paraplegia [RCV003752080] |
Chr13:23355490..23355491 [GRCh38]
Chr13:23929629..23929630 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1576T>C (p.Leu526=) |
single nucleotide variant |
Spastic paraplegia [RCV003752096] |
Chr13:23355036 [GRCh38]
Chr13:23929175 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+18G>T |
single nucleotide variant |
Spastic paraplegia [RCV003752098] |
Chr13:23375101 [GRCh38]
Chr13:23949240 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10074C>T (p.Pro3358=) |
single nucleotide variant |
Spastic paraplegia [RCV003752050] |
Chr13:23333802 [GRCh38]
Chr13:23907941 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2019T>C (p.Asn673=) |
single nucleotide variant |
Spastic paraplegia [RCV003752118] |
Chr13:23354593 [GRCh38]
Chr13:23928732 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1129A>G (p.Ile377Val) |
single nucleotide variant |
Spastic paraplegia [RCV003752248] |
Chr13:23355483 [GRCh38]
Chr13:23929622 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2136C>T (p.Asn712=) |
single nucleotide variant |
Spastic paraplegia [RCV003752290] |
Chr13:23353834 [GRCh38]
Chr13:23927973 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2658G>A (p.Gln886=) |
single nucleotide variant |
Spastic paraplegia [RCV003752293] |
Chr13:23341218 [GRCh38]
Chr13:23915357 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6174T>C (p.Ser2058=) |
single nucleotide variant |
Spastic paraplegia [RCV003851938] |
Chr13:23337702 [GRCh38]
Chr13:23911841 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6930G>C (p.Leu2310=) |
single nucleotide variant |
Spastic paraplegia [RCV003840493] |
Chr13:23336946 [GRCh38]
Chr13:23911085 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11640A>G (p.Val3880=) |
single nucleotide variant |
Spastic paraplegia [RCV003752405] |
Chr13:23332236 [GRCh38]
Chr13:23906375 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6002_6003dup (p.Arg2002fs) |
duplication |
Spastic paraplegia [RCV003752417] |
Chr13:23337872..23337873 [GRCh38]
Chr13:23912011..23912012 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7686T>G (p.Cys2562Trp) |
single nucleotide variant |
Spastic paraplegia [RCV003752437] |
Chr13:23336190 [GRCh38]
Chr13:23910329 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3426G>A (p.Leu1142=) |
single nucleotide variant |
Spastic paraplegia [RCV003752464] |
Chr13:23340450 [GRCh38]
Chr13:23914589 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.690T>C (p.Cys230=) |
single nucleotide variant |
Spastic paraplegia [RCV003752481] |
Chr13:23355922 [GRCh38]
Chr13:23930061 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9249T>C (p.Leu3083=) |
single nucleotide variant |
Spastic paraplegia [RCV003752478] |
Chr13:23334627 [GRCh38]
Chr13:23908766 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.260-18A>T |
single nucleotide variant |
Spastic paraplegia [RCV003752586] |
Chr13:23368505 [GRCh38]
Chr13:23942644 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12351T>C (p.Thr4117=) |
single nucleotide variant |
Spastic paraplegia [RCV003750290] |
Chr13:23331525 [GRCh38]
Chr13:23905664 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11919A>G (p.Leu3973=) |
single nucleotide variant |
Spastic paraplegia [RCV003750361] |
Chr13:23331957 [GRCh38]
Chr13:23906096 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6813T>G (p.Cys2271Trp) |
single nucleotide variant |
Spastic paraplegia [RCV003750378] |
Chr13:23337063 [GRCh38]
Chr13:23911202 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9039T>C (p.Thr3013=) |
single nucleotide variant |
Spastic paraplegia [RCV003750321] |
Chr13:23334837 [GRCh38]
Chr13:23908976 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1710C>T (p.Val570=) |
single nucleotide variant |
Spastic paraplegia [RCV003750401] |
Chr13:23354902 [GRCh38]
Chr13:23929041 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9237T>C (p.Leu3079=) |
single nucleotide variant |
Spastic paraplegia [RCV003750315] |
Chr13:23334639 [GRCh38]
Chr13:23908778 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4495A>T (p.Met1499Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003750390] |
Chr13:23339381 [GRCh38]
Chr13:23913520 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5482G>T (p.Glu1828Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003750477] |
Chr13:23338394 [GRCh38]
Chr13:23912533 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.511G>A (p.Gly171Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003750501] |
Chr13:23358428 [GRCh38]
Chr13:23932567 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12123A>G (p.Leu4041=) |
single nucleotide variant |
Spastic paraplegia [RCV003750438] |
Chr13:23331753 [GRCh38]
Chr13:23905892 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2425G>C (p.Glu809Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003750557] |
Chr13:23341451 [GRCh38]
Chr13:23915590 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11681A>G (p.Lys3894Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750570] |
Chr13:23332195 [GRCh38]
Chr13:23906334 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7178A>G (p.Gln2393Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750571] |
Chr13:23336698 [GRCh38]
Chr13:23910837 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2176C>A (p.Gln726Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003750528] |
Chr13:23353794 [GRCh38]
Chr13:23927933 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3849G>C (p.Lys1283Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003750543] |
Chr13:23340027 [GRCh38]
Chr13:23914166 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.260-7A>G |
single nucleotide variant |
Spastic paraplegia [RCV003750562] |
Chr13:23368494 [GRCh38]
Chr13:23942633 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2094-12_2094-11dup |
duplication |
Spastic paraplegia [RCV003750587] |
Chr13:23353886..23353887 [GRCh38]
Chr13:23928025..23928026 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10626T>C (p.Asp3542=) |
single nucleotide variant |
Spastic paraplegia [RCV003750598] |
Chr13:23333250 [GRCh38]
Chr13:23907389 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11684T>A (p.Val3895Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003750668] |
Chr13:23332192 [GRCh38]
Chr13:23906331 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9579T>C (p.Tyr3193=) |
single nucleotide variant |
Spastic paraplegia [RCV003850648] |
Chr13:23334297 [GRCh38]
Chr13:23908436 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11501C>T (p.Thr3834Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003750737] |
Chr13:23332375 [GRCh38]
Chr13:23906514 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13379C>G (p.Ala4460Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003750767] |
Chr13:23330497 [GRCh38]
Chr13:23904636 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6916G>C (p.Asp2306His) |
single nucleotide variant |
Spastic paraplegia [RCV003816994] |
Chr13:23336960 [GRCh38]
Chr13:23911099 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.621T>C (p.Phe207=) |
single nucleotide variant |
Spastic paraplegia [RCV003817470] |
Chr13:23355991 [GRCh38]
Chr13:23930130 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7284C>T (p.Ile2428=) |
single nucleotide variant |
Spastic paraplegia [RCV003751234] |
Chr13:23336592 [GRCh38]
Chr13:23910731 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5185T>C (p.Leu1729=) |
single nucleotide variant |
Spastic paraplegia [RCV003751293] |
Chr13:23338691 [GRCh38]
Chr13:23912830 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3703T>C (p.Tyr1235His) |
single nucleotide variant |
Spastic paraplegia [RCV003751380] |
Chr13:23340173 [GRCh38]
Chr13:23914312 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12055A>G (p.Met4019Val) |
single nucleotide variant |
Spastic paraplegia [RCV003751322] |
Chr13:23331821 [GRCh38]
Chr13:23905960 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10133A>G (p.Lys3378Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003751457] |
Chr13:23333743 [GRCh38]
Chr13:23907882 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9241C>T (p.His3081Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003751524] |
Chr13:23334635 [GRCh38]
Chr13:23908774 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2828A>C (p.Lys943Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003751599] |
Chr13:23341048 [GRCh38]
Chr13:23915187 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5063dup (p.Ser1689fs) |
duplication |
Spastic paraplegia [RCV003751644] |
Chr13:23338812..23338813 [GRCh38]
Chr13:23912951..23912952 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3156A>G (p.Glu1052=) |
single nucleotide variant |
Spastic paraplegia [RCV003856844] |
Chr13:23340720 [GRCh38]
Chr13:23914859 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2232A>C (p.Ala744=) |
single nucleotide variant |
Spastic paraplegia [RCV003751631] |
Chr13:23341644 [GRCh38]
Chr13:23915783 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5556G>A (p.Gln1852=) |
single nucleotide variant |
Spastic paraplegia [RCV003751761] |
Chr13:23338320 [GRCh38]
Chr13:23912459 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3237C>T (p.Thr1079=) |
single nucleotide variant |
Spastic paraplegia [RCV003751867] |
Chr13:23340639 [GRCh38]
Chr13:23914778 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13245G>A (p.Gln4415=) |
single nucleotide variant |
Spastic paraplegia [RCV003813972] |
Chr13:23330631 [GRCh38]
Chr13:23904770 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13415G>A (p.Trp4472Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003751963] |
Chr13:23330461 [GRCh38]
Chr13:23904600 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1152T>C (p.Thr384=) |
single nucleotide variant |
Spastic paraplegia [RCV003751972] |
Chr13:23355460 [GRCh38]
Chr13:23929599 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4621T>C (p.Leu1541=) |
single nucleotide variant |
Spastic paraplegia [RCV003752009] |
Chr13:23339255 [GRCh38]
Chr13:23913394 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10917G>T (p.Leu3639Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003752014] |
Chr13:23332959 [GRCh38]
Chr13:23907098 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2185+18T>C |
single nucleotide variant |
Spastic paraplegia [RCV003751993] |
Chr13:23353767 [GRCh38]
Chr13:23927906 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5636A>G (p.Lys1879Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750697] |
Chr13:23338240 [GRCh38]
Chr13:23912379 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003752144] |
Chr13:23334965 [GRCh38]
Chr13:23909104 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8499T>C (p.Ser2833=) |
single nucleotide variant |
Spastic paraplegia [RCV003752145] |
Chr13:23335377 [GRCh38]
Chr13:23909516 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9443T>C (p.Ile3148Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003752194] |
Chr13:23334433 [GRCh38]
Chr13:23908572 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.410_411del (p.Gln137fs) |
deletion |
Spastic paraplegia [RCV003751076] |
Chr13:23365212..23365213 [GRCh38]
Chr13:23939351..23939352 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.477C>A (p.Tyr159Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003751201] |
Chr13:23358462 [GRCh38]
Chr13:23932601 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10162T>C (p.Leu3388=) |
single nucleotide variant |
Spastic paraplegia [RCV003751186] |
Chr13:23333714 [GRCh38]
Chr13:23907853 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3699T>C (p.Asp1233=) |
single nucleotide variant |
Spastic paraplegia [RCV003835967] |
Chr13:23340177 [GRCh38]
Chr13:23914316 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-11G>C |
single nucleotide variant |
Spastic paraplegia [RCV003752236] |
Chr13:23375280 [GRCh38]
Chr13:23949419 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11451T>A (p.Tyr3817Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003752186] |
Chr13:23332425 [GRCh38]
Chr13:23906564 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.53dup (p.Cys20fs) |
duplication |
Spastic paraplegia [RCV003752307] |
Chr13:23375236..23375237 [GRCh38]
Chr13:23949375..23949376 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4711A>T (p.Ile1571Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003835966] |
Chr13:23339165 [GRCh38]
Chr13:23913304 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13077C>A (p.Ile4359=) |
single nucleotide variant |
Spastic paraplegia [RCV003751379] |
Chr13:23330799 [GRCh38]
Chr13:23904938 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8067T>C (p.His2689=) |
single nucleotide variant |
Spastic paraplegia [RCV003751383] |
Chr13:23335809 [GRCh38]
Chr13:23909948 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1406G>A (p.Gly469Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003815969] |
Chr13:23355206 [GRCh38]
Chr13:23929345 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.1479T>C (p.Asn493=) |
single nucleotide variant |
Spastic paraplegia [RCV003752318] |
Chr13:23355133 [GRCh38]
Chr13:23929272 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.201G>C (p.Leu67=) |
single nucleotide variant |
Spastic paraplegia [RCV003752427] |
Chr13:23371136 [GRCh38]
Chr13:23945275 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9549C>T (p.Ser3183=) |
single nucleotide variant |
Spastic paraplegia [RCV003751485] |
Chr13:23334327 [GRCh38]
Chr13:23908466 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6241C>T (p.Leu2081=) |
single nucleotide variant |
Spastic paraplegia [RCV003751522] |
Chr13:23337635 [GRCh38]
Chr13:23911774 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13226A>G (p.Lys4409Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003751551] |
Chr13:23330650 [GRCh38]
Chr13:23904789 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.777A>G (p.Glu259=) |
single nucleotide variant |
Spastic paraplegia [RCV003849612] |
Chr13:23355835 [GRCh38]
Chr13:23929974 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-6C>T |
single nucleotide variant |
Spastic paraplegia [RCV003751610] |
Chr13:23375275 [GRCh38]
Chr13:23949414 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9684C>G (p.Thr3228=) |
single nucleotide variant |
Spastic paraplegia [RCV003751624] |
Chr13:23334192 [GRCh38]
Chr13:23908331 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+6dup |
duplication |
Spastic paraplegia [RCV003751629] |
Chr13:23368395..23368396 [GRCh38]
Chr13:23942534..23942535 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5032C>T (p.Leu1678Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003751573] |
Chr13:23338844 [GRCh38]
Chr13:23912983 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003854772] |
Chr13:23334361 [GRCh38]
Chr13:23908500 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9619A>G (p.Lys3207Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003839279] |
Chr13:23334257 [GRCh38]
Chr13:23908396 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4341A>G (p.Glu1447=) |
single nucleotide variant |
Spastic paraplegia [RCV003751970] |
Chr13:23339535 [GRCh38]
Chr13:23913674 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2244G>A (p.Lys748=) |
single nucleotide variant |
Spastic paraplegia [RCV003752002] |
Chr13:23341632 [GRCh38]
Chr13:23915771 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4797G>T (p.Gly1599=) |
single nucleotide variant |
Spastic paraplegia [RCV003752003] |
Chr13:23339079 [GRCh38]
Chr13:23913218 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5028T>C (p.Phe1676=) |
single nucleotide variant |
Spastic paraplegia [RCV003751678] |
Chr13:23338848 [GRCh38]
Chr13:23912987 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.367G>T (p.Asp123Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003751736] |
Chr13:23365256 [GRCh38]
Chr13:23939395 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10401T>C (p.Gly3467=) |
single nucleotide variant |
Spastic paraplegia [RCV003751682] |
Chr13:23333475 [GRCh38]
Chr13:23907614 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8571T>C (p.Ile2857=) |
single nucleotide variant |
Spastic paraplegia [RCV003751749] |
Chr13:23335305 [GRCh38]
Chr13:23909444 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13713T>A (p.Leu4571=) |
single nucleotide variant |
Spastic paraplegia [RCV003751826] |
Chr13:23330163 [GRCh38]
Chr13:23904302 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5328T>C (p.Asp1776=) |
single nucleotide variant |
Spastic paraplegia [RCV003751845] |
Chr13:23338548 [GRCh38]
Chr13:23912687 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11194C>T (p.Gln3732Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003751850] |
Chr13:23332682 [GRCh38]
Chr13:23906821 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7933C>T (p.Leu2645=) |
single nucleotide variant |
Spastic paraplegia [RCV003752039] |
Chr13:23335943 [GRCh38]
Chr13:23910082 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12741A>G (p.Arg4247=) |
single nucleotide variant |
Spastic paraplegia [RCV003752078] |
Chr13:23331135 [GRCh38]
Chr13:23905274 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10093C>T (p.Leu3365=) |
single nucleotide variant |
Spastic paraplegia [RCV003752108] |
Chr13:23333783 [GRCh38]
Chr13:23907922 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5175C>A (p.Asn1725Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003752143] |
Chr13:23338701 [GRCh38]
Chr13:23912840 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4755A>C (p.Ile1585=) |
single nucleotide variant |
Spastic paraplegia [RCV003752164] |
Chr13:23339121 [GRCh38]
Chr13:23913260 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9156dup (p.Glu3053fs) |
duplication |
Spastic paraplegia [RCV003751846] |
Chr13:23334719..23334720 [GRCh38]
Chr13:23908858..23908859 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7380T>G (p.Leu2460=) |
single nucleotide variant |
Spastic paraplegia [RCV003751947] |
Chr13:23336496 [GRCh38]
Chr13:23910635 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8085C>T (p.Cys2695=) |
single nucleotide variant |
Spastic paraplegia [RCV003855755] |
Chr13:23335791 [GRCh38]
Chr13:23909930 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.605-15A>C |
single nucleotide variant |
Spastic paraplegia [RCV003750291] |
Chr13:23356022 [GRCh38]
Chr13:23930161 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+20C>G |
single nucleotide variant |
Spastic paraplegia [RCV003750333] |
Chr13:23368382 [GRCh38]
Chr13:23942521 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6792T>C (p.Asn2264=) |
single nucleotide variant |
Spastic paraplegia [RCV003750363] |
Chr13:23337084 [GRCh38]
Chr13:23911223 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10716C>T (p.Pro3572=) |
single nucleotide variant |
Spastic paraplegia [RCV003752111] |
Chr13:23333160 [GRCh38]
Chr13:23907299 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3783T>C (p.Asp1261=) |
single nucleotide variant |
Spastic paraplegia [RCV003752113] |
Chr13:23340093 [GRCh38]
Chr13:23914232 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5927C>G (p.Thr1976Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003752159] |
Chr13:23337949 [GRCh38]
Chr13:23912088 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13542G>A (p.Gln4514=) |
single nucleotide variant |
Spastic paraplegia [RCV003752257] |
Chr13:23330334 [GRCh38]
Chr13:23904473 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8799T>A (p.Tyr2933Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003752193] |
Chr13:23335077 [GRCh38]
Chr13:23909216 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4441C>T (p.Leu1481=) |
single nucleotide variant |
Spastic paraplegia [RCV003752071] |
Chr13:23339435 [GRCh38]
Chr13:23913574 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4011G>A (p.Gln1337=) |
single nucleotide variant |
Spastic paraplegia [RCV003752032] |
Chr13:23339865 [GRCh38]
Chr13:23914004 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7398dup (p.Cys2467fs) |
duplication |
Spastic paraplegia [RCV003751989] |
Chr13:23336477..23336478 [GRCh38]
Chr13:23910616..23910617 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2923A>G (p.Ile975Val) |
single nucleotide variant |
Spastic paraplegia [RCV003838474] |
Chr13:23340953 [GRCh38]
Chr13:23915092 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9475C>T (p.Leu3159=) |
single nucleotide variant |
Spastic paraplegia [RCV003750400] |
Chr13:23334401 [GRCh38]
Chr13:23908540 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13238A>G (p.Gln4413Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750442] |
Chr13:23330638 [GRCh38]
Chr13:23904777 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.423G>A (p.Glu141=) |
single nucleotide variant |
Spastic paraplegia [RCV003750455] |
Chr13:23365200 [GRCh38]
Chr13:23939339 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3235dup (p.Thr1079fs) |
duplication |
Spastic paraplegia [RCV003750458] |
Chr13:23340640..23340641 [GRCh38]
Chr13:23914779..23914780 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.13587T>C (p.Tyr4529=) |
single nucleotide variant |
Spastic paraplegia [RCV003750536] |
Chr13:23330289 [GRCh38]
Chr13:23904428 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7029C>A (p.Pro2343=) |
single nucleotide variant |
Spastic paraplegia [RCV003752363] |
Chr13:23336847 [GRCh38]
Chr13:23910986 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12839_12843del (p.Phe4280fs) |
deletion |
Spastic paraplegia [RCV003752341] |
Chr13:23331033..23331037 [GRCh38]
Chr13:23905172..23905176 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3270T>C (p.Ile1090=) |
single nucleotide variant |
Spastic paraplegia [RCV003752241] |
Chr13:23340606 [GRCh38]
Chr13:23914745 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1893G>A (p.Val631=) |
single nucleotide variant |
Spastic paraplegia [RCV003752243] |
Chr13:23354719 [GRCh38]
Chr13:23928858 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1073A>G (p.Asn358Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003750625] |
Chr13:23355539 [GRCh38]
Chr13:23929678 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3873G>T (p.Val1291=) |
single nucleotide variant |
Spastic paraplegia [RCV003750659] |
Chr13:23340003 [GRCh38]
Chr13:23914142 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1662C>A (p.Ser554Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750661] |
Chr13:23354950 [GRCh38]
Chr13:23929089 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6342C>T (p.Ile2114=) |
single nucleotide variant |
Spastic paraplegia [RCV003752451] |
Chr13:23337534 [GRCh38]
Chr13:23911673 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1305A>G (p.Gly435=) |
single nucleotide variant |
Spastic paraplegia [RCV003752389] |
Chr13:23355307 [GRCh38]
Chr13:23929446 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4938G>T (p.Leu1646=) |
single nucleotide variant |
Spastic paraplegia [RCV003752457] |
Chr13:23338938 [GRCh38]
Chr13:23913077 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12736del (p.Ser4246fs) |
deletion |
Spastic paraplegia [RCV003752460] |
Chr13:23331140 [GRCh38]
Chr13:23905279 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5424G>A (p.Leu1808=) |
single nucleotide variant |
Spastic paraplegia [RCV003752488] |
Chr13:23338452 [GRCh38]
Chr13:23912591 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4507A>G (p.Met1503Val) |
single nucleotide variant |
Spastic paraplegia [RCV003752442] |
Chr13:23339369 [GRCh38]
Chr13:23913508 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5355A>T (p.Pro1785=) |
single nucleotide variant |
Spastic paraplegia [RCV003752449] |
Chr13:23338521 [GRCh38]
Chr13:23912660 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7401C>T (p.Cys2467=) |
single nucleotide variant |
Spastic paraplegia [RCV003750986] |
Chr13:23336475 [GRCh38]
Chr13:23910614 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8189_8190del (p.Leu2730fs) |
deletion |
Spastic paraplegia [RCV003751000] |
Chr13:23335686..23335687 [GRCh38]
Chr13:23909825..23909826 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6105A>G (p.Leu2035=) |
single nucleotide variant |
Spastic paraplegia [RCV003751004] |
Chr13:23337771 [GRCh38]
Chr13:23911910 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7274G>A (p.Arg2425Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003752469] |
Chr13:23336602 [GRCh38]
Chr13:23910741 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.604+12_604+13insATTAGATCCTCCCGAATCAACCCTGACCCCTCTCCTTCATAAATTATTCAGCTTCCTACACTATTAAAGTTTACCACAACCACCACCCCATCATACTCTTTCACCCACAGCACCAATCCTACCTCCATCGCTAACCCCACTAAAACACTCACCAAGACCTCAACCCCTGACC |
insertion |
Spastic paraplegia [RCV003752541] |
Chr13:23358322..23358323 [GRCh38]
Chr13:23932461..23932462 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3702G>A (p.Trp1234Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003752544] |
Chr13:23340174 [GRCh38]
Chr13:23914313 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4393A>T (p.Lys1465Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003752480] |
Chr13:23339483 [GRCh38]
Chr13:23913622 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7020G>A (p.Lys2340=) |
single nucleotide variant |
Spastic paraplegia [RCV003752439] |
Chr13:23336856 [GRCh38]
Chr13:23910995 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1894C>A (p.Arg632=) |
single nucleotide variant |
Spastic paraplegia [RCV003751192] |
Chr13:23354718 [GRCh38]
Chr13:23928857 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11124A>T (p.Pro3708=) |
single nucleotide variant |
Spastic paraplegia [RCV003751126] |
Chr13:23332752 [GRCh38]
Chr13:23906891 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6538dup (p.Ala2180fs) |
duplication |
Spastic paraplegia [RCV003839846] |
Chr13:23337337..23337338 [GRCh38]
Chr13:23911476..23911477 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4437A>G (p.Lys1479=) |
single nucleotide variant |
Spastic paraplegia [RCV003751258] |
Chr13:23339439 [GRCh38]
Chr13:23913578 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4890T>G (p.Pro1630=) |
single nucleotide variant |
Spastic paraplegia [RCV003751347] |
Chr13:23338986 [GRCh38]
Chr13:23913125 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6840G>T (p.Glu2280Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004374304]|Spastic paraplegia [RCV003751475] |
Chr13:23337036 [GRCh38]
Chr13:23911175 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.345+15G>T |
single nucleotide variant |
Spastic paraplegia [RCV003751426] |
Chr13:23368387 [GRCh38]
Chr13:23942526 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11990C>T (p.Ser3997Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003751528] |
Chr13:23331886 [GRCh38]
Chr13:23906025 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3347G>T (p.Gly1116Val) |
single nucleotide variant |
Spastic paraplegia [RCV003751600] |
Chr13:23340529 [GRCh38]
Chr13:23914668 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+14C>G |
single nucleotide variant |
Spastic paraplegia [RCV003750289] |
Chr13:23368388 [GRCh38]
Chr13:23942527 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11356del (p.Glu3786fs) |
deletion |
Spastic paraplegia [RCV003750341] |
Chr13:23332520 [GRCh38]
Chr13:23906659 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9970C>T (p.Leu3324=) |
single nucleotide variant |
Spastic paraplegia [RCV003816623] |
Chr13:23333906 [GRCh38]
Chr13:23908045 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6910G>A (p.Val2304Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003751608] |
Chr13:23336966 [GRCh38]
Chr13:23911105 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3858A>G (p.Pro1286=) |
single nucleotide variant |
Spastic paraplegia [RCV003751539] |
Chr13:23340018 [GRCh38]
Chr13:23914157 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13734A>G (p.Lys4578=) |
single nucleotide variant |
Spastic paraplegia [RCV003751716] |
Chr13:23330142 [GRCh38]
Chr13:23904281 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9410A>G (p.Asp3137Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003751723] |
Chr13:23334466 [GRCh38]
Chr13:23908605 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6866C>T (p.Thr2289Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003750416] |
Chr13:23337010 [GRCh38]
Chr13:23911149 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8028A>G (p.Thr2676=) |
single nucleotide variant |
Spastic paraplegia [RCV003750441] |
Chr13:23335848 [GRCh38]
Chr13:23909987 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9509G>A (p.Arg3170Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003750451] |
Chr13:23334367 [GRCh38]
Chr13:23908506 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1760C>G (p.Thr587Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750466] |
Chr13:23354852 [GRCh38]
Chr13:23928991 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12789C>T (p.Thr4263=) |
single nucleotide variant |
Spastic paraplegia [RCV003750520] |
Chr13:23331087 [GRCh38]
Chr13:23905226 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10327A>G (p.Lys3443Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003750523] |
Chr13:23333549 [GRCh38]
Chr13:23907688 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6500C>T (p.Ala2167Val) |
single nucleotide variant |
Spastic paraplegia [RCV003750545] |
Chr13:23337376 [GRCh38]
Chr13:23911515 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5141_5144del (p.Ile1714fs) |
deletion |
Spastic paraplegia [RCV003751897] |
Chr13:23338732..23338735 [GRCh38]
Chr13:23912871..23912874 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.346-15_346-4del |
deletion |
Spastic paraplegia [RCV003750611] |
Chr13:23365281..23365292 [GRCh38]
Chr13:23939420..23939431 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2186-18T>G |
single nucleotide variant |
Spastic paraplegia [RCV003750650] |
Chr13:23341708 [GRCh38]
Chr13:23915847 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4494_4498del (p.Asp1498fs) |
deletion |
Spastic paraplegia [RCV003750708] |
Chr13:23339378..23339382 [GRCh38]
Chr13:23913517..23913521 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.420A>C (p.Thr140=) |
single nucleotide variant |
Spastic paraplegia [RCV003752035] |
Chr13:23365203 [GRCh38]
Chr13:23939342 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12007C>T (p.Gln4003Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003752040] |
Chr13:23331869 [GRCh38]
Chr13:23906008 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2919T>C (p.Ala973=) |
single nucleotide variant |
Spastic paraplegia [RCV003751999] |
Chr13:23340957 [GRCh38]
Chr13:23915096 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3810T>C (p.Phe1270=) |
single nucleotide variant |
Spastic paraplegia [RCV003752105] |
Chr13:23340066 [GRCh38]
Chr13:23914205 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6951T>C (p.Asn2317=) |
single nucleotide variant |
Spastic paraplegia [RCV003752127] |
Chr13:23336925 [GRCh38]
Chr13:23911064 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.204T>A (p.Thr68=) |
single nucleotide variant |
Spastic paraplegia [RCV003752117] |
Chr13:23371133 [GRCh38]
Chr13:23945272 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9815T>G (p.Val3272Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003752202] |
Chr13:23334061 [GRCh38]
Chr13:23908200 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6535G>A (p.Val2179Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003752203] |
Chr13:23337341 [GRCh38]
Chr13:23911480 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.573A>C (p.Gly191=) |
single nucleotide variant |
Spastic paraplegia [RCV003752385] |
Chr13:23358366 [GRCh38]
Chr13:23932505 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2031C>G (p.Val677=) |
single nucleotide variant |
Spastic paraplegia [RCV003752367] |
Chr13:23354581 [GRCh38]
Chr13:23928720 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5460G>C (p.Leu1820=) |
single nucleotide variant |
Spastic paraplegia [RCV003752176] |
Chr13:23338416 [GRCh38]
Chr13:23912555 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4639dup (p.Arg1547fs) |
duplication |
Spastic paraplegia [RCV003752384] |
Chr13:23339236..23339237 [GRCh38]
Chr13:23913375..23913376 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2186-15G>C |
single nucleotide variant |
Spastic paraplegia [RCV003752388] |
Chr13:23341705 [GRCh38]
Chr13:23915844 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1956A>G (p.Glu652=) |
single nucleotide variant |
Spastic paraplegia [RCV003752459] |
Chr13:23354656 [GRCh38]
Chr13:23928795 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9257C>T (p.Ala3086Val) |
single nucleotide variant |
Spastic paraplegia [RCV003752418] |
Chr13:23334619 [GRCh38]
Chr13:23908758 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1281A>T (p.Ser427=) |
single nucleotide variant |
Spastic paraplegia [RCV003752356] |
Chr13:23355331 [GRCh38]
Chr13:23929470 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11130A>G (p.Lys3710=) |
single nucleotide variant |
Spastic paraplegia [RCV003752472] |
Chr13:23332746 [GRCh38]
Chr13:23906885 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2298A>G (p.Pro766=) |
single nucleotide variant |
Spastic paraplegia [RCV003752506] |
Chr13:23341578 [GRCh38]
Chr13:23915717 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12387T>A (p.Ile4129=) |
single nucleotide variant |
Spastic paraplegia [RCV003752212] |
Chr13:23331489 [GRCh38]
Chr13:23905628 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.605-7T>G |
single nucleotide variant |
Spastic paraplegia [RCV003752171] |
Chr13:23356014 [GRCh38]
Chr13:23930153 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10026T>C (p.Ser3342=) |
single nucleotide variant |
Spastic paraplegia [RCV003752256] |
Chr13:23333850 [GRCh38]
Chr13:23907989 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6060G>T (p.Gly2020=) |
single nucleotide variant |
Spastic paraplegia [RCV003752329] |
Chr13:23337816 [GRCh38]
Chr13:23911955 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7117C>T (p.Gln2373Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003851924] |
Chr13:23336759 [GRCh38]
Chr13:23910898 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2422C>T (p.Leu808=) |
single nucleotide variant |
Spastic paraplegia [RCV003752320] |
Chr13:23341454 [GRCh38]
Chr13:23915593 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11913T>G (p.Pro3971=) |
single nucleotide variant |
Spastic paraplegia [RCV003752468] |
Chr13:23331963 [GRCh38]
Chr13:23906102 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.718A>C (p.Ile240Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003752473] |
Chr13:23355894 [GRCh38]
Chr13:23930033 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2076C>T (p.Thr692=) |
single nucleotide variant |
Spastic paraplegia [RCV003752474] |
Chr13:23354536 [GRCh38]
Chr13:23928675 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10600C>T (p.Leu3534=) |
single nucleotide variant |
Spastic paraplegia [RCV003752495] |
Chr13:23333276 [GRCh38]
Chr13:23907415 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1467A>G (p.Ala489=) |
single nucleotide variant |
Spastic paraplegia [RCV003752514] |
Chr13:23355145 [GRCh38]
Chr13:23929284 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3550C>A (p.Pro1184Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003752515] |
Chr13:23340326 [GRCh38]
Chr13:23914465 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5580G>A (p.Lys1860=) |
single nucleotide variant |
Spastic paraplegia [RCV003752532] |
Chr13:23338296 [GRCh38]
Chr13:23912435 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11430G>A (p.Glu3810=) |
single nucleotide variant |
Spastic paraplegia [RCV003752502] |
Chr13:23332446 [GRCh38]
Chr13:23906585 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.605-16A>G |
single nucleotide variant |
Spastic paraplegia [RCV003752546] |
Chr13:23356023 [GRCh38]
Chr13:23930162 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.416G>A (p.Gly139Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003752534] |
Chr13:23365207 [GRCh38]
Chr13:23939346 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6860A>G (p.Lys2287Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003837054] |
Chr13:23337016 [GRCh38]
Chr13:23911155 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8277A>T (p.Leu2759=) |
single nucleotide variant |
Spastic paraplegia [RCV003752581] |
Chr13:23335599 [GRCh38]
Chr13:23909738 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5711C>A (p.Thr1904Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003750382] |
Chr13:23338165 [GRCh38]
Chr13:23912304 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10605G>C (p.Lys3535Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003750418] |
Chr13:23333271 [GRCh38]
Chr13:23907410 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6288A>G (p.Pro2096=) |
single nucleotide variant |
Spastic paraplegia [RCV003750428] |
Chr13:23337588 [GRCh38]
Chr13:23911727 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6256G>A (p.Asp2086Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003750437] |
Chr13:23337620 [GRCh38]
Chr13:23911759 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4910dup (p.Tyr1637Ter) |
duplication |
Spastic paraplegia [RCV003750456] |
Chr13:23338965..23338966 [GRCh38]
Chr13:23913104..23913105 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3782A>G (p.Asp1261Gly) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003994708] |
Chr13:23340094 [GRCh38]
Chr13:23914233 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.260G>A (p.Gly87Asp) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003994714] |
Chr13:23368487 [GRCh38]
Chr13:23942626 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.260-13C>T |
single nucleotide variant |
Spastic paraplegia [RCV003849518] |
Chr13:23368500 [GRCh38]
Chr13:23942639 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5518A>C (p.Arg1840=) |
single nucleotide variant |
Spastic paraplegia [RCV003849478] |
Chr13:23338358 [GRCh38]
Chr13:23912497 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1914T>C (p.Cys638=) |
single nucleotide variant |
Spastic paraplegia [RCV003751800] |
Chr13:23354698 [GRCh38]
Chr13:23928837 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.374G>C (p.Gly125Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003750310] |
Chr13:23365249 [GRCh38]
Chr13:23939388 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4656A>G (p.Lys1552=) |
single nucleotide variant |
Spastic paraplegia [RCV003750380] |
Chr13:23339220 [GRCh38]
Chr13:23913359 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6226T>G (p.Leu2076Val) |
single nucleotide variant |
Spastic paraplegia [RCV003750599] |
Chr13:23337650 [GRCh38]
Chr13:23911789 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3465A>G (p.Lys1155=) |
single nucleotide variant |
Spastic paraplegia [RCV003750632] |
Chr13:23340411 [GRCh38]
Chr13:23914550 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.655C>A (p.Gln219Lys) |
single nucleotide variant |
Spastic paraplegia [RCV003750589] |
Chr13:23355957 [GRCh38]
Chr13:23930096 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2315A>C (p.Asn772Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003750644] |
Chr13:23341561 [GRCh38]
Chr13:23915700 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3120C>T (p.Ile1040=) |
single nucleotide variant |
Spastic paraplegia [RCV003750666] |
Chr13:23340756 [GRCh38]
Chr13:23914895 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12434C>G (p.Ser4145Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003750691] |
Chr13:23331442 [GRCh38]
Chr13:23905581 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1864C>T (p.Pro622Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003838273] |
Chr13:23354748 [GRCh38]
Chr13:23928887 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7648del (p.Leu2550fs) |
deletion |
Spastic paraplegia [RCV003751802] |
Chr13:23336228 [GRCh38]
Chr13:23910367 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.10977C>T (p.Ala3659=) |
single nucleotide variant |
Spastic paraplegia [RCV003750413] |
Chr13:23332899 [GRCh38]
Chr13:23907038 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1566T>C (p.Ser522=) |
single nucleotide variant |
Spastic paraplegia [RCV003750431] |
Chr13:23355046 [GRCh38]
Chr13:23929185 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-18T>C |
single nucleotide variant |
Spastic paraplegia [RCV003750483] |
Chr13:23375287 [GRCh38]
Chr13:23949426 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5308G>A (p.Val1770Met) |
single nucleotide variant |
Spastic paraplegia [RCV003750485] |
Chr13:23338568 [GRCh38]
Chr13:23912707 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12233G>C (p.Arg4078Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003750505] |
Chr13:23331643 [GRCh38]
Chr13:23905782 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7004T>C (p.Met2335Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003750509] |
Chr13:23336872 [GRCh38]
Chr13:23911011 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.20+18T>C |
single nucleotide variant |
Spastic paraplegia [RCV003750471] |
Chr13:23411202 [GRCh38]
Chr13:23985341 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.766A>G (p.Ser256Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003750533] |
Chr13:23355846 [GRCh38]
Chr13:23929985 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7964C>T (p.Ala2655Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004374054]|Spastic paraplegia [RCV003750560] |
Chr13:23335912 [GRCh38]
Chr13:23910051 [GRCh37]
Chr13:13q12.12 |
likely benign|uncertain significance |
| NM_014363.6(SACS):c.96C>T (p.Arg32=) |
single nucleotide variant |
Spastic paraplegia [RCV003750550] |
Chr13:23375194 [GRCh38]
Chr13:23949333 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2186-19T>G |
single nucleotide variant |
Spastic paraplegia [RCV003750696] |
Chr13:23341709 [GRCh38]
Chr13:23915848 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1560G>C (p.Lys520Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003750710] |
Chr13:23355052 [GRCh38]
Chr13:23929191 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11931A>T (p.Ile3977=) |
single nucleotide variant |
Spastic paraplegia [RCV003752023] |
Chr13:23331945 [GRCh38]
Chr13:23906084 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9576A>G (p.Leu3192=) |
single nucleotide variant |
Spastic paraplegia [RCV003752100] |
Chr13:23334300 [GRCh38]
Chr13:23908439 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3082C>T (p.Pro1028Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003750692] |
Chr13:23340794 [GRCh38]
Chr13:23914933 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.457+17A>G |
single nucleotide variant |
Spastic paraplegia [RCV003750665] |
Chr13:23365149 [GRCh38]
Chr13:23939288 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3391C>G (p.Leu1131Val) |
single nucleotide variant |
Spastic paraplegia [RCV003750768] |
Chr13:23340485 [GRCh38]
Chr13:23914624 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5944G>A (p.Gly1982Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003750726] |
Chr13:23337932 [GRCh38]
Chr13:23912071 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4605T>G (p.Phe1535Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003750979] |
Chr13:23339271 [GRCh38]
Chr13:23913410 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8193C>T (p.Arg2731=) |
single nucleotide variant |
Spastic paraplegia [RCV003751112] |
Chr13:23335683 [GRCh38]
Chr13:23909822 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10569T>C (p.Ser3523=) |
single nucleotide variant |
Spastic paraplegia [RCV003751160] |
Chr13:23333307 [GRCh38]
Chr13:23907446 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.177T>G (p.Ser59=) |
single nucleotide variant |
Spastic paraplegia [RCV003815977] |
Chr13:23371160 [GRCh38]
Chr13:23945299 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9657C>T (p.Ser3219=) |
single nucleotide variant |
Spastic paraplegia [RCV003752066] |
Chr13:23334219 [GRCh38]
Chr13:23908358 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6189A>G (p.Pro2063=) |
single nucleotide variant |
Spastic paraplegia [RCV003752197] |
Chr13:23337687 [GRCh38]
Chr13:23911826 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12345T>G (p.Ser4115=) |
single nucleotide variant |
Spastic paraplegia [RCV003752266] |
Chr13:23331531 [GRCh38]
Chr13:23905670 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5175C>T (p.Asn1725=) |
single nucleotide variant |
Spastic paraplegia [RCV003752271] |
Chr13:23338701 [GRCh38]
Chr13:23912840 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7458T>A (p.Ala2486=) |
single nucleotide variant |
Spastic paraplegia [RCV003851344] |
Chr13:23336418 [GRCh38]
Chr13:23910557 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.172-11C>A |
single nucleotide variant |
Spastic paraplegia [RCV003750750] |
Chr13:23371176 [GRCh38]
Chr13:23945315 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2918C>G (p.Ala973Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003750988] |
Chr13:23340958 [GRCh38]
Chr13:23915097 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7620T>A (p.Pro2540=) |
single nucleotide variant |
Spastic paraplegia [RCV003751037] |
Chr13:23336256 [GRCh38]
Chr13:23910395 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11814T>C (p.Ile3938=) |
single nucleotide variant |
Spastic paraplegia [RCV003751070] |
Chr13:23332062 [GRCh38]
Chr13:23906201 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12777T>G (p.Pro4259=) |
single nucleotide variant |
Spastic paraplegia [RCV003751016] |
Chr13:23331099 [GRCh38]
Chr13:23905238 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3548C>T (p.Pro1183Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003751205] |
Chr13:23340328 [GRCh38]
Chr13:23914467 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5034C>T (p.Leu1678=) |
single nucleotide variant |
Spastic paraplegia [RCV003751327] |
Chr13:23338842 [GRCh38]
Chr13:23912981 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6513T>G (p.Ala2171=) |
single nucleotide variant |
Spastic paraplegia [RCV003752482] |
Chr13:23337363 [GRCh38]
Chr13:23911502 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer) |
deletion |
Spastic paraplegia [RCV003815889] |
Chr13:23336979..23336982 [GRCh38]
Chr13:23911118..23911121 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.84C>G (p.Ser28=) |
single nucleotide variant |
Spastic paraplegia [RCV003751137] |
Chr13:23375206 [GRCh38]
Chr13:23949345 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13293G>A (p.Arg4431=) |
single nucleotide variant |
Spastic paraplegia [RCV003751229] |
Chr13:23330583 [GRCh38]
Chr13:23904722 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10458A>C (p.Glu3486Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003751338] |
Chr13:23333418 [GRCh38]
Chr13:23907557 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6475T>C (p.Leu2159=) |
single nucleotide variant |
Spastic paraplegia [RCV003751415] |
Chr13:23337401 [GRCh38]
Chr13:23911540 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1701T>G (p.Cys567Trp) |
single nucleotide variant |
Spastic paraplegia [RCV003751334] |
Chr13:23354911 [GRCh38]
Chr13:23929050 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13672A>G (p.Met4558Val) |
single nucleotide variant |
Spastic paraplegia [RCV003751473] |
Chr13:23330204 [GRCh38]
Chr13:23904343 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10812T>C (p.Ala3604=) |
single nucleotide variant |
Spastic paraplegia [RCV003752571] |
Chr13:23333064 [GRCh38]
Chr13:23907203 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2563T>C (p.Leu855=) |
single nucleotide variant |
Spastic paraplegia [RCV003751296] |
Chr13:23341313 [GRCh38]
Chr13:23915452 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.346-17G>T |
single nucleotide variant |
Spastic paraplegia [RCV003751265] |
Chr13:23365294 [GRCh38]
Chr13:23939433 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6682G>T (p.Asp2228Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003751335] |
Chr13:23337194 [GRCh38]
Chr13:23911333 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7002G>A (p.Lys2334=) |
single nucleotide variant |
Spastic paraplegia [RCV003751337] |
Chr13:23336874 [GRCh38]
Chr13:23911013 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13157G>A (p.Arg4386Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003751341] |
Chr13:23330719 [GRCh38]
Chr13:23904858 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9558C>T (p.Asp3186=) |
single nucleotide variant |
Spastic paraplegia [RCV003751466] |
Chr13:23334318 [GRCh38]
Chr13:23908457 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2524G>C (p.Asp842His) |
single nucleotide variant |
Spastic paraplegia [RCV003751542] |
Chr13:23341352 [GRCh38]
Chr13:23915491 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4377A>C (p.Pro1459=) |
single nucleotide variant |
Spastic paraplegia [RCV003751523] |
Chr13:23339499 [GRCh38]
Chr13:23913638 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13304C>T (p.Pro4435Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003751687] |
Chr13:23330572 [GRCh38]
Chr13:23904711 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13600T>C (p.Leu4534=) |
single nucleotide variant |
Spastic paraplegia [RCV003751713] |
Chr13:23330276 [GRCh38]
Chr13:23904415 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8640A>G (p.Pro2880=) |
single nucleotide variant |
Spastic paraplegia [RCV003751725] |
Chr13:23335236 [GRCh38]
Chr13:23909375 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1828G>A (p.Ala610Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003751739] |
Chr13:23354784 [GRCh38]
Chr13:23928923 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9692G>A (p.Cys3231Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003751755] |
Chr13:23334184 [GRCh38]
Chr13:23908323 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+1_171+18del |
deletion |
Spastic paraplegia [RCV003751727] |
Chr13:23375101..23375118 [GRCh38]
Chr13:23949240..23949257 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7830C>G (p.Gly2610=) |
single nucleotide variant |
Spastic paraplegia [RCV003751626] |
Chr13:23336046 [GRCh38]
Chr13:23910185 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10761A>G (p.Arg3587=) |
single nucleotide variant |
Spastic paraplegia [RCV003751776] |
Chr13:23333115 [GRCh38]
Chr13:23907254 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.627T>C (p.Gly209=) |
single nucleotide variant |
Spastic paraplegia [RCV003751857] |
Chr13:23355985 [GRCh38]
Chr13:23930124 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12190C>T (p.Pro4064Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003751913] |
Chr13:23331686 [GRCh38]
Chr13:23905825 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10866A>G (p.Gln3622=) |
single nucleotide variant |
Spastic paraplegia [RCV003751895] |
Chr13:23333010 [GRCh38]
Chr13:23907149 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9348G>A (p.Lys3116=) |
single nucleotide variant |
Spastic paraplegia [RCV003751853] |
Chr13:23334528 [GRCh38]
Chr13:23908667 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1866T>A (p.Pro622=) |
single nucleotide variant |
Spastic paraplegia [RCV003751855] |
Chr13:23354746 [GRCh38]
Chr13:23928885 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.604+9T>G |
single nucleotide variant |
Spastic paraplegia [RCV003751837] |
Chr13:23358326 [GRCh38]
Chr13:23932465 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.172-20T>G |
single nucleotide variant |
Spastic paraplegia [RCV003751905] |
Chr13:23371185 [GRCh38]
Chr13:23945324 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.120G>C (p.Ala40=) |
single nucleotide variant |
Spastic paraplegia [RCV003751919] |
Chr13:23375170 [GRCh38]
Chr13:23949309 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8157A>G (p.Ser2719=) |
single nucleotide variant |
Spastic paraplegia [RCV003752020] |
Chr13:23335719 [GRCh38]
Chr13:23909858 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11958T>A (p.Thr3986=) |
single nucleotide variant |
Spastic paraplegia [RCV003751907] |
Chr13:23331918 [GRCh38]
Chr13:23906057 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10221A>T (p.Leu3407=) |
single nucleotide variant |
Spastic paraplegia [RCV003751973] |
Chr13:23333655 [GRCh38]
Chr13:23907794 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10383A>G (p.Glu3461=) |
single nucleotide variant |
Spastic paraplegia [RCV003752007] |
Chr13:23333493 [GRCh38]
Chr13:23907632 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11808G>T (p.Gly3936=) |
single nucleotide variant |
Spastic paraplegia [RCV003752041] |
Chr13:23332068 [GRCh38]
Chr13:23906207 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12885C>A (p.Pro4295=) |
single nucleotide variant |
Spastic paraplegia [RCV003751994] |
Chr13:23330991 [GRCh38]
Chr13:23905130 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8145T>A (p.Ser2715=) |
single nucleotide variant |
Spastic paraplegia [RCV003752091] |
Chr13:23335731 [GRCh38]
Chr13:23909870 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6900A>G (p.Val2300=) |
single nucleotide variant |
Spastic paraplegia [RCV003751945] |
Chr13:23336976 [GRCh38]
Chr13:23911115 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9678T>G (p.Tyr3226Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003751950] |
Chr13:23334198 [GRCh38]
Chr13:23908337 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1650G>A (p.Glu550=) |
single nucleotide variant |
Spastic paraplegia [RCV003861460] |
Chr13:23354962 [GRCh38]
Chr13:23929101 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8209C>T (p.Leu2737Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003589048] |
Chr13:23335667 [GRCh38]
Chr13:23909806 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.4686T>G (p.Ser1562=) |
single nucleotide variant |
Spastic paraplegia [RCV003589074] |
Chr13:23339190 [GRCh38]
Chr13:23913329 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1380C>T (p.Leu460=) |
single nucleotide variant |
Spastic paraplegia [RCV003589096] |
Chr13:23355232 [GRCh38]
Chr13:23929371 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9310A>G (p.Thr3104Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003590860] |
Chr13:23334566 [GRCh38]
Chr13:23908705 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5589G>A (p.Val1863=) |
single nucleotide variant |
Spastic paraplegia [RCV003590980] |
Chr13:23338287 [GRCh38]
Chr13:23912426 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1625A>C (p.Lys542Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003865825] |
Chr13:23354987 [GRCh38]
Chr13:23929126 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11452G>T (p.Glu3818Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003589765] |
Chr13:23332424 [GRCh38]
Chr13:23906563 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.125C>T (p.Thr42Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003588261] |
Chr13:23375165 [GRCh38]
Chr13:23949304 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6273T>A (p.Val2091=) |
single nucleotide variant |
Spastic paraplegia [RCV003861266] |
Chr13:23337603 [GRCh38]
Chr13:23911742 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10558A>G (p.Lys3520Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003588356] |
Chr13:23333318 [GRCh38]
Chr13:23907457 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6162A>G (p.Lys2054=) |
single nucleotide variant |
Spastic paraplegia [RCV003588387] |
Chr13:23337714 [GRCh38]
Chr13:23911853 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5901dup (p.Ala1968fs) |
duplication |
Spastic paraplegia [RCV003590109] |
Chr13:23337974..23337975 [GRCh38]
Chr13:23912113..23912114 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11652G>A (p.Leu3884=) |
single nucleotide variant |
Spastic paraplegia [RCV003590110] |
Chr13:23332224 [GRCh38]
Chr13:23906363 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1226_1227del (p.Ser409fs) |
microsatellite |
Spastic paraplegia [RCV003590146] |
Chr13:23355385..23355386 [GRCh38]
Chr13:23929524..23929525 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12953G>A (p.Trp4318Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003590203] |
Chr13:23330923 [GRCh38]
Chr13:23905062 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.604+19C>T |
single nucleotide variant |
Spastic paraplegia [RCV003589186] |
Chr13:23358316 [GRCh38]
Chr13:23932455 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13116A>C (p.Ala4372=) |
single nucleotide variant |
Spastic paraplegia [RCV003589364] |
Chr13:23330760 [GRCh38]
Chr13:23904899 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9075A>G (p.Pro3025=) |
single nucleotide variant |
Spastic paraplegia [RCV003862531] |
Chr13:23334801 [GRCh38]
Chr13:23908940 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-17C>T |
single nucleotide variant |
Spastic paraplegia [RCV003588141] |
Chr13:23375286 [GRCh38]
Chr13:23949425 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.84C>T (p.Ser28=) |
single nucleotide variant |
Spastic paraplegia [RCV003588158] |
Chr13:23375206 [GRCh38]
Chr13:23949345 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2621G>A (p.Ser874Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003588188] |
Chr13:23341255 [GRCh38]
Chr13:23915394 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003588193] |
Chr13:23340676 [GRCh38]
Chr13:23914815 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12089del (p.Asn4030fs) |
deletion |
Spastic paraplegia [RCV003589912] |
Chr13:23331787 [GRCh38]
Chr13:23905926 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.4443A>G (p.Leu1481=) |
single nucleotide variant |
Spastic paraplegia [RCV003588500] |
Chr13:23339433 [GRCh38]
Chr13:23913572 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2202G>A (p.Gln734=) |
single nucleotide variant |
Spastic paraplegia [RCV003590173] |
Chr13:23341674 [GRCh38]
Chr13:23915813 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2820T>G (p.Ser940=) |
single nucleotide variant |
Spastic paraplegia [RCV003824084] |
Chr13:23341056 [GRCh38]
Chr13:23915195 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003588221] |
Chr13:23338942 [GRCh38]
Chr13:23913081 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.12058A>T (p.Lys4020Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003590097] |
Chr13:23331818 [GRCh38]
Chr13:23905957 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1137A>G (p.Leu379=) |
single nucleotide variant |
Spastic paraplegia [RCV003590068] |
Chr13:23355475 [GRCh38]
Chr13:23929614 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.297dup (p.Leu100fs) |
duplication |
Spastic paraplegia [RCV003590161] |
Chr13:23368449..23368450 [GRCh38]
Chr13:23942588..23942589 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.5040A>G (p.Gly1680=) |
single nucleotide variant |
Spastic paraplegia [RCV003589367] |
Chr13:23338836 [GRCh38]
Chr13:23912975 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12686T>C (p.Ile4229Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003846548] |
Chr13:23331190 [GRCh38]
Chr13:23905329 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6257A>G (p.Asp2086Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003590508] |
Chr13:23337619 [GRCh38]
Chr13:23911758 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2097C>T (p.Ser699=) |
single nucleotide variant |
Spastic paraplegia [RCV003589589] |
Chr13:23353873 [GRCh38]
Chr13:23928012 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11223G>C (p.Leu3741=) |
single nucleotide variant |
Spastic paraplegia [RCV003589489] |
Chr13:23332653 [GRCh38]
Chr13:23906792 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12039A>G (p.Thr4013=) |
single nucleotide variant |
Spastic paraplegia [RCV003589615] |
Chr13:23331837 [GRCh38]
Chr13:23905976 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.259+10T>G |
single nucleotide variant |
Spastic paraplegia [RCV003590228] |
Chr13:23371068 [GRCh38]
Chr13:23945207 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2695C>G (p.His899Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003590576] |
Chr13:23341181 [GRCh38]
Chr13:23915320 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.450A>G (p.Pro150=) |
single nucleotide variant |
Spastic paraplegia [RCV003590600] |
Chr13:23365173 [GRCh38]
Chr13:23939312 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8694T>A (p.Arg2898=) |
single nucleotide variant |
Spastic paraplegia [RCV003590455] |
Chr13:23335182 [GRCh38]
Chr13:23909321 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4744G>C (p.Asp1582His) |
single nucleotide variant |
Spastic paraplegia [RCV003588987] |
Chr13:23339132 [GRCh38]
Chr13:23913271 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.20+19dup |
duplication |
Spastic paraplegia [RCV003589032] |
Chr13:23411200..23411201 [GRCh38]
Chr13:23985339..23985340 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3522A>G (p.Lys1174=) |
single nucleotide variant |
Spastic paraplegia [RCV003590737] |
Chr13:23340354 [GRCh38]
Chr13:23914493 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8349T>C (p.Ser2783=) |
single nucleotide variant |
Spastic paraplegia [RCV003589808] |
Chr13:23335527 [GRCh38]
Chr13:23909666 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9009C>T (p.Gly3003=) |
single nucleotide variant |
Spastic paraplegia [RCV003846882] |
Chr13:23334867 [GRCh38]
Chr13:23909006 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6138A>G (p.Leu2046=) |
single nucleotide variant |
Spastic paraplegia [RCV003848651] |
Chr13:23337738 [GRCh38]
Chr13:23911877 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.466_469del (p.Leu156fs) |
microsatellite |
Spastic paraplegia [RCV003590524] |
Chr13:23358470..23358473 [GRCh38]
Chr13:23932609..23932612 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7379_7380del (p.Leu2460fs) |
deletion |
Spastic paraplegia [RCV003590532] |
Chr13:23336496..23336497 [GRCh38]
Chr13:23910635..23910636 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7128T>C (p.Asn2376=) |
single nucleotide variant |
Spastic paraplegia [RCV003589087] |
Chr13:23336748 [GRCh38]
Chr13:23910887 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5850T>C (p.Asp1950=) |
single nucleotide variant |
Spastic paraplegia [RCV003589212] |
Chr13:23338026 [GRCh38]
Chr13:23912165 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5919A>G (p.Lys1973=) |
single nucleotide variant |
Spastic paraplegia [RCV003589144] |
Chr13:23337957 [GRCh38]
Chr13:23912096 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5244G>A (p.Lys1748=) |
single nucleotide variant |
Spastic paraplegia [RCV003590990] |
Chr13:23338632 [GRCh38]
Chr13:23912771 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10230T>C (p.Leu3410=) |
single nucleotide variant |
Spastic paraplegia [RCV003588138] |
Chr13:23333646 [GRCh38]
Chr13:23907785 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.194G>A (p.Gly65Glu) |
single nucleotide variant |
Spastic paraplegia [RCV003588191] |
Chr13:23371143 [GRCh38]
Chr13:23945282 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10083C>T (p.Ile3361=) |
single nucleotide variant |
Spastic paraplegia [RCV003590694] |
Chr13:23333793 [GRCh38]
Chr13:23907932 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5794G>A (p.Ala1932Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003589168] |
Chr13:23338082 [GRCh38]
Chr13:23912221 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3328del (p.Ile1110fs) |
deletion |
Spastic paraplegia [RCV003589266] |
Chr13:23340548 [GRCh38]
Chr13:23914687 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12466C>T (p.Pro4156Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003588962] |
Chr13:23331410 [GRCh38]
Chr13:23905549 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3729A>C (p.Glu1243Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003589072] |
Chr13:23340147 [GRCh38]
Chr13:23914286 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2658G>T (p.Gln886His) |
single nucleotide variant |
Spastic paraplegia [RCV003590727] |
Chr13:23341218 [GRCh38]
Chr13:23915357 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6180G>C (p.Val2060=) |
single nucleotide variant |
Spastic paraplegia [RCV003590848] |
Chr13:23337696 [GRCh38]
Chr13:23911835 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9330T>C (p.Thr3110=) |
single nucleotide variant |
Spastic paraplegia [RCV003589404] |
Chr13:23334546 [GRCh38]
Chr13:23908685 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9205T>C (p.Leu3069=) |
single nucleotide variant |
Spastic paraplegia [RCV003589296] |
Chr13:23334671 [GRCh38]
Chr13:23908810 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11135C>T (p.Thr3712Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003588313] |
Chr13:23332741 [GRCh38]
Chr13:23906880 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.888T>C (p.Phe296=) |
single nucleotide variant |
Spastic paraplegia [RCV003590204] |
Chr13:23355724 [GRCh38]
Chr13:23929863 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5092T>C (p.Leu1698=) |
single nucleotide variant |
Spastic paraplegia [RCV003853045] |
Chr13:23338784 [GRCh38]
Chr13:23912923 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13343G>A (p.Arg4448His) |
single nucleotide variant |
Spastic paraplegia [RCV003589109] |
Chr13:23330533 [GRCh38]
Chr13:23904672 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.605-18T>C |
single nucleotide variant |
Spastic paraplegia [RCV003820294] |
Chr13:23356025 [GRCh38]
Chr13:23930164 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2132A>G (p.Asp711Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003589058] |
Chr13:23353838 [GRCh38]
Chr13:23927977 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4890T>C (p.Pro1630=) |
single nucleotide variant |
Spastic paraplegia [RCV003590983] |
Chr13:23338986 [GRCh38]
Chr13:23913125 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10056A>G (p.Thr3352=) |
single nucleotide variant |
Spastic paraplegia [RCV003859366] |
Chr13:23333820 [GRCh38]
Chr13:23907959 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6172dup (p.Ser2058fs) |
duplication |
Spastic paraplegia [RCV003822071] |
Chr13:23337703..23337704 [GRCh38]
Chr13:23911842..23911843 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.3571C>T (p.His1191Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003588430] |
Chr13:23340305 [GRCh38]
Chr13:23914444 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6558T>C (p.Ser2186=) |
single nucleotide variant |
Spastic paraplegia [RCV003819829] |
Chr13:23337318 [GRCh38]
Chr13:23911457 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4870G>T (p.Val1624Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003590351] |
Chr13:23339006 [GRCh38]
Chr13:23913145 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6933C>T (p.Tyr2311=) |
single nucleotide variant |
Spastic paraplegia [RCV003589262] |
Chr13:23336943 [GRCh38]
Chr13:23911082 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8864C>A (p.Thr2955Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003844392] |
Chr13:23335012 [GRCh38]
Chr13:23909151 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8796G>C (p.Arg2932=) |
single nucleotide variant |
Spastic paraplegia [RCV003859257] |
Chr13:23335080 [GRCh38]
Chr13:23909219 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+12C>A |
single nucleotide variant |
Spastic paraplegia [RCV003589461] |
Chr13:23375107 [GRCh38]
Chr13:23949246 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1659C>G (p.Phe553Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003589482] |
Chr13:23354953 [GRCh38]
Chr13:23929092 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.863A>G (p.Asn288Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003843250] |
Chr13:23355749 [GRCh38]
Chr13:23929888 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13590T>G (p.Gly4530=) |
single nucleotide variant |
Spastic paraplegia [RCV003853263] |
Chr13:23330286 [GRCh38]
Chr13:23904425 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4592C>T (p.Ser1531Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003588210] |
Chr13:23339284 [GRCh38]
Chr13:23913423 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2851C>A (p.His951Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003590787] |
Chr13:23341025 [GRCh38]
Chr13:23915164 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3849G>A (p.Lys1283=) |
single nucleotide variant |
Spastic paraplegia [RCV003847370] |
Chr13:23340027 [GRCh38]
Chr13:23914166 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2695C>A (p.His899Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003589584] |
Chr13:23341181 [GRCh38]
Chr13:23915320 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7350G>A (p.Lys2450=) |
single nucleotide variant |
Spastic paraplegia [RCV003822341] |
Chr13:23336526 [GRCh38]
Chr13:23910665 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6789A>G (p.Glu2263=) |
single nucleotide variant |
Spastic paraplegia [RCV003862982] |
Chr13:23337087 [GRCh38]
Chr13:23911226 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10666T>C (p.Leu3556=) |
single nucleotide variant |
Spastic paraplegia [RCV003589488] |
Chr13:23333210 [GRCh38]
Chr13:23907349 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.457+7A>G |
single nucleotide variant |
Spastic paraplegia [RCV003843187] |
Chr13:23365159 [GRCh38]
Chr13:23939298 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10494C>G (p.Ile3498Met) |
single nucleotide variant |
Spastic paraplegia [RCV003861059] |
Chr13:23333382 [GRCh38]
Chr13:23907521 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2812A>G (p.Ile938Val) |
single nucleotide variant |
Spastic paraplegia [RCV003589745] |
Chr13:23341064 [GRCh38]
Chr13:23915203 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.20+13A>G |
single nucleotide variant |
Spastic paraplegia [RCV003866786] |
Chr13:23411207 [GRCh38]
Chr13:23985346 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13618G>A (p.Asp4540Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003588140] |
Chr13:23330258 [GRCh38]
Chr13:23904397 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2825C>T (p.Thr942Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003588175] |
Chr13:23341051 [GRCh38]
Chr13:23915190 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7351A>T (p.Ile2451Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003588199] |
Chr13:23336525 [GRCh38]
Chr13:23910664 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1512T>C (p.Ala504=) |
single nucleotide variant |
Spastic paraplegia [RCV003867667] |
Chr13:23355100 [GRCh38]
Chr13:23929239 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12984T>A (p.Ile4328=) |
single nucleotide variant |
Spastic paraplegia [RCV003588332] |
Chr13:23330892 [GRCh38]
Chr13:23905031 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+15G>C |
single nucleotide variant |
Spastic paraplegia [RCV003822827] |
Chr13:23375104 [GRCh38]
Chr13:23949243 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10971G>A (p.Glu3657=) |
single nucleotide variant |
Spastic paraplegia [RCV003869377] |
Chr13:23332905 [GRCh38]
Chr13:23907044 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4359G>A (p.Gln1453=) |
single nucleotide variant |
Spastic paraplegia [RCV003590286] |
Chr13:23339517 [GRCh38]
Chr13:23913656 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8390dup (p.Pro2798fs) |
duplication |
Spastic paraplegia [RCV003588378] |
Chr13:23335485..23335486 [GRCh38]
Chr13:23909624..23909625 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6705G>A (p.Lys2235=) |
single nucleotide variant |
Spastic paraplegia [RCV003588476] |
Chr13:23337171 [GRCh38]
Chr13:23911310 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6389G>C (p.Arg2130Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003588379] |
Chr13:23337487 [GRCh38]
Chr13:23911626 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5727T>C (p.Asn1909=) |
single nucleotide variant |
Spastic paraplegia [RCV003590348] |
Chr13:23338149 [GRCh38]
Chr13:23912288 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10665A>G (p.Lys3555=) |
single nucleotide variant |
Spastic paraplegia [RCV003845567] |
Chr13:23333211 [GRCh38]
Chr13:23907350 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12345T>C (p.Ser4115=) |
single nucleotide variant |
Spastic paraplegia [RCV003590477] |
Chr13:23331531 [GRCh38]
Chr13:23905670 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5239A>C (p.Lys1747Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003590490] |
Chr13:23338637 [GRCh38]
Chr13:23912776 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003590565] |
Chr13:23330974 [GRCh38]
Chr13:23905113 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6663A>G (p.Lys2221=) |
single nucleotide variant |
Spastic paraplegia [RCV003590614] |
Chr13:23337213 [GRCh38]
Chr13:23911352 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9129T>C (p.Tyr3043=) |
single nucleotide variant |
Spastic paraplegia [RCV003857531] |
Chr13:23334747 [GRCh38]
Chr13:23908886 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1546C>T (p.Leu516=) |
single nucleotide variant |
Spastic paraplegia [RCV003589059] |
Chr13:23355066 [GRCh38]
Chr13:23929205 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3240A>C (p.Ser1080=) |
single nucleotide variant |
Spastic paraplegia [RCV003589126] |
Chr13:23340636 [GRCh38]
Chr13:23914775 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12777T>C (p.Pro4259=) |
single nucleotide variant |
Spastic paraplegia [RCV003862498] |
Chr13:23331099 [GRCh38]
Chr13:23905238 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12420A>G (p.Gly4140=) |
single nucleotide variant |
Spastic paraplegia [RCV003872145] |
Chr13:23331456 [GRCh38]
Chr13:23905595 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13287T>C (p.Ser4429=) |
single nucleotide variant |
Spastic paraplegia [RCV003589257] |
Chr13:23330589 [GRCh38]
Chr13:23904728 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10955del (p.Pro3652fs) |
deletion |
Spastic paraplegia [RCV003589287] |
Chr13:23332921 [GRCh38]
Chr13:23907060 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.360T>C (p.Asn120=) |
single nucleotide variant |
Spastic paraplegia [RCV003589324] |
Chr13:23365263 [GRCh38]
Chr13:23939402 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1947C>T (p.His649=) |
single nucleotide variant |
Spastic paraplegia [RCV003591119] |
Chr13:23354665 [GRCh38]
Chr13:23928804 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1320C>T (p.Phe440=) |
single nucleotide variant |
Spastic paraplegia [RCV003872196] |
Chr13:23355292 [GRCh38]
Chr13:23929431 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.978A>G (p.Thr326=) |
single nucleotide variant |
Spastic paraplegia [RCV003872224] |
Chr13:23355634 [GRCh38]
Chr13:23929773 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7185C>T (p.Cys2395=) |
single nucleotide variant |
Spastic paraplegia [RCV003589406] |
Chr13:23336691 [GRCh38]
Chr13:23910830 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5886A>T (p.Gly1962=) |
single nucleotide variant |
Spastic paraplegia [RCV003589420] |
Chr13:23337990 [GRCh38]
Chr13:23912129 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11358A>G (p.Glu3786=) |
single nucleotide variant |
Spastic paraplegia [RCV003591125] |
Chr13:23332518 [GRCh38]
Chr13:23906657 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10832C>T (p.Ala3611Val) |
single nucleotide variant |
Spastic paraplegia [RCV003870414] |
Chr13:23333044 [GRCh38]
Chr13:23907183 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10072C>G (p.Pro3358Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003869157] |
Chr13:23333804 [GRCh38]
Chr13:23907943 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8211T>C (p.Leu2737=) |
single nucleotide variant |
Spastic paraplegia [RCV003589319] |
Chr13:23335665 [GRCh38]
Chr13:23909804 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9468C>T (p.Leu3156=) |
single nucleotide variant |
Spastic paraplegia [RCV003591012] |
Chr13:23334408 [GRCh38]
Chr13:23908547 [GRCh37]
Chr13:13q12.12 |
likely benign |
| GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 |
copy number gain |
not specified [RCV003987034] |
Chr13:23329180..28663294 [GRCh37]
Chr13:13q12.12-12.2 |
uncertain significance |
| NM_014363.6(SACS):c.1076_1077del (p.Tyr359fs) |
deletion |
Spastic paraplegia [RCV003589244] |
Chr13:23355535..23355536 [GRCh38]
Chr13:23929674..23929675 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9786A>G (p.Glu3262=) |
single nucleotide variant |
Spastic paraplegia [RCV003589379] |
Chr13:23334090 [GRCh38]
Chr13:23908229 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10651A>G (p.Met3551Val) |
single nucleotide variant |
Spastic paraplegia [RCV003589398] |
Chr13:23333225 [GRCh38]
Chr13:23907364 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1503C>T (p.Val501=) |
single nucleotide variant |
Spastic paraplegia [RCV003591082] |
Chr13:23355109 [GRCh38]
Chr13:23929248 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13292G>T (p.Arg4431Met) |
single nucleotide variant |
Spastic paraplegia [RCV003862855] |
Chr13:23330584 [GRCh38]
Chr13:23904723 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8283G>A (p.Val2761=) |
single nucleotide variant |
Spastic paraplegia [RCV003589514] |
Chr13:23335593 [GRCh38]
Chr13:23909732 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5733G>T (p.Thr1911=) |
single nucleotide variant |
Spastic paraplegia [RCV003589538] |
Chr13:23338143 [GRCh38]
Chr13:23912282 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7296A>T (p.Ile2432=) |
single nucleotide variant |
Spastic paraplegia [RCV003589539] |
Chr13:23336580 [GRCh38]
Chr13:23910719 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-20C>T |
single nucleotide variant |
Spastic paraplegia [RCV003589494] |
Chr13:23358501 [GRCh38]
Chr13:23932640 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+7G>A |
single nucleotide variant |
Spastic paraplegia [RCV003589642] |
Chr13:23375112 [GRCh38]
Chr13:23949251 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6942T>C (p.Asn2314=) |
single nucleotide variant |
Spastic paraplegia [RCV003871200] |
Chr13:23336934 [GRCh38]
Chr13:23911073 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9408T>C (p.Val3136=) |
single nucleotide variant |
Spastic paraplegia [RCV003865355] |
Chr13:23334468 [GRCh38]
Chr13:23908607 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8574T>C (p.Thr2858=) |
single nucleotide variant |
Spastic paraplegia [RCV003857012] |
Chr13:23335302 [GRCh38]
Chr13:23909441 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3126A>T (p.Ile1042=) |
single nucleotide variant |
Spastic paraplegia [RCV003589796] |
Chr13:23340750 [GRCh38]
Chr13:23914889 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5380del (p.Glu1794fs) |
deletion |
Spastic paraplegia [RCV003589937] |
Chr13:23338496 [GRCh38]
Chr13:23912635 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12121C>T (p.Leu4041=) |
single nucleotide variant |
Spastic paraplegia [RCV003589864] |
Chr13:23331755 [GRCh38]
Chr13:23905894 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6510A>T (p.Val2170=) |
single nucleotide variant |
Spastic paraplegia [RCV003588176] |
Chr13:23337366 [GRCh38]
Chr13:23911505 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7209T>G (p.Val2403=) |
single nucleotide variant |
Spastic paraplegia [RCV003588098] |
Chr13:23336667 [GRCh38]
Chr13:23910806 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9476T>C (p.Leu3159Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003588197] |
Chr13:23334400 [GRCh38]
Chr13:23908539 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8367T>C (p.Thr2789=) |
single nucleotide variant |
Spastic paraplegia [RCV003588200] |
Chr13:23335509 [GRCh38]
Chr13:23909648 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7113T>G (p.Leu2371=) |
single nucleotide variant |
Spastic paraplegia [RCV003588203] |
Chr13:23336763 [GRCh38]
Chr13:23910902 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-15C>T |
single nucleotide variant |
Spastic paraplegia [RCV003588209] |
Chr13:23375284 [GRCh38]
Chr13:23949423 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.270T>G (p.Gly90=) |
single nucleotide variant |
Spastic paraplegia [RCV003589958] |
Chr13:23368477 [GRCh38]
Chr13:23942616 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.442A>G (p.Met148Val) |
single nucleotide variant |
Spastic paraplegia [RCV003861443] |
Chr13:23365181 [GRCh38]
Chr13:23939320 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5712A>C (p.Thr1904=) |
single nucleotide variant |
Spastic paraplegia [RCV003870118] |
Chr13:23338164 [GRCh38]
Chr13:23912303 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10581C>T (p.Ile3527=) |
single nucleotide variant |
Spastic paraplegia [RCV003822825] |
Chr13:23333295 [GRCh38]
Chr13:23907434 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.36C>G (p.Thr12=) |
single nucleotide variant |
Spastic paraplegia [RCV003588428] |
Chr13:23375254 [GRCh38]
Chr13:23949393 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+7C>T |
single nucleotide variant |
Spastic paraplegia [RCV003863891] |
Chr13:23368395 [GRCh38]
Chr13:23942534 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6348C>G (p.Pro2116=) |
single nucleotide variant |
Spastic paraplegia [RCV003869976] |
Chr13:23337528 [GRCh38]
Chr13:23911667 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10506T>C (p.Asn3502=) |
single nucleotide variant |
Spastic paraplegia [RCV003867703] |
Chr13:23333370 [GRCh38]
Chr13:23907509 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8610T>C (p.Phe2870=) |
single nucleotide variant |
Spastic paraplegia [RCV003867787] |
Chr13:23335266 [GRCh38]
Chr13:23909405 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3832G>A (p.Val1278Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003590681] |
Chr13:23340044 [GRCh38]
Chr13:23914183 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.205T>G (p.Ser69Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003590551] |
Chr13:23371132 [GRCh38]
Chr13:23945271 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7322_7323del (p.Gln2441fs) |
deletion |
Spastic paraplegia [RCV003862374] |
Chr13:23336553..23336554 [GRCh38]
Chr13:23910692..23910693 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12863C>T (p.Thr4288Ile) |
single nucleotide variant |
Spastic paraplegia [RCV003589103] |
Chr13:23331013 [GRCh38]
Chr13:23905152 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9096G>T (p.Gln3032His) |
single nucleotide variant |
Spastic paraplegia [RCV003589105] |
Chr13:23334780 [GRCh38]
Chr13:23908919 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5443T>C (p.Cys1815Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003589107] |
Chr13:23338433 [GRCh38]
Chr13:23912572 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2786G>T (p.Arg929Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003589213] |
Chr13:23341090 [GRCh38]
Chr13:23915229 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12087C>T (p.Ala4029=) |
single nucleotide variant |
Spastic paraplegia [RCV003589297] |
Chr13:23331789 [GRCh38]
Chr13:23905928 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+9dup |
duplication |
Spastic paraplegia [RCV003589465] |
Chr13:23375109..23375110 [GRCh38]
Chr13:23949248..23949249 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-13C>T |
single nucleotide variant |
Spastic paraplegia [RCV003590770] |
Chr13:23375282 [GRCh38]
Chr13:23949421 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10966C>A (p.Pro3656Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003590834] |
Chr13:23332910 [GRCh38]
Chr13:23907049 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2683C>T (p.Leu895=) |
single nucleotide variant |
Spastic paraplegia [RCV003590837] |
Chr13:23341193 [GRCh38]
Chr13:23915332 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6799del (p.Ser2267fs) |
deletion |
Spastic paraplegia [RCV003590970] |
Chr13:23337077 [GRCh38]
Chr13:23911216 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.6770del (p.Leu2257fs) |
deletion |
Spastic paraplegia [RCV003845487] |
Chr13:23337106 [GRCh38]
Chr13:23911245 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11981C>T (p.Ala3994Val) |
single nucleotide variant |
Spastic paraplegia [RCV003589158] |
Chr13:23331895 [GRCh38]
Chr13:23906034 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4482T>C (p.Ser1494=) |
single nucleotide variant |
Spastic paraplegia [RCV003589061] |
Chr13:23339394 [GRCh38]
Chr13:23913533 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.291T>G (p.Val97=) |
single nucleotide variant |
Spastic paraplegia [RCV003591010] |
Chr13:23368456 [GRCh38]
Chr13:23942595 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11915G>A (p.Arg3972Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003591017] |
Chr13:23331961 [GRCh38]
Chr13:23906100 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.458-16G>A |
single nucleotide variant |
Spastic paraplegia [RCV003590972] |
Chr13:23358497 [GRCh38]
Chr13:23932636 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11665C>T (p.Gln3889Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003591071] |
Chr13:23332211 [GRCh38]
Chr13:23906350 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.11454A>G (p.Glu3818=) |
single nucleotide variant |
Spastic paraplegia [RCV003589446] |
Chr13:23332422 [GRCh38]
Chr13:23906561 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6892A>C (p.Lys2298Gln) |
single nucleotide variant |
Spastic paraplegia [RCV003589204] |
Chr13:23336984 [GRCh38]
Chr13:23911123 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.350del (p.Glu116_Leu117insTer) |
deletion |
Spastic paraplegia [RCV003589218] |
Chr13:23365273 [GRCh38]
Chr13:23939412 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2799T>C (p.Ser933=) |
single nucleotide variant |
Spastic paraplegia [RCV003820367] |
Chr13:23341077 [GRCh38]
Chr13:23915216 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11940A>G (p.Glu3980=) |
single nucleotide variant |
Spastic paraplegia [RCV003589448] |
Chr13:23331936 [GRCh38]
Chr13:23906075 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.306C>T (p.Asp102=) |
single nucleotide variant |
Spastic paraplegia [RCV003589341] |
Chr13:23368441 [GRCh38]
Chr13:23942580 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13080C>T (p.Asn4360=) |
single nucleotide variant |
Spastic paraplegia [RCV003589342] |
Chr13:23330796 [GRCh38]
Chr13:23904935 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4698C>A (p.Ile1566=) |
single nucleotide variant |
Spastic paraplegia [RCV003589572] |
Chr13:23339178 [GRCh38]
Chr13:23913317 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9231T>A (p.Ala3077=) |
single nucleotide variant |
Spastic paraplegia [RCV003588131] |
Chr13:23334645 [GRCh38]
Chr13:23908784 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4937del (p.Leu1646fs) |
deletion |
Spastic paraplegia [RCV003589540] |
Chr13:23338939 [GRCh38]
Chr13:23913078 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.8907T>C (p.Asp2969=) |
single nucleotide variant |
Spastic paraplegia [RCV003589661] |
Chr13:23334969 [GRCh38]
Chr13:23909108 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2220A>C (p.Pro740=) |
single nucleotide variant |
Spastic paraplegia [RCV003589668] |
Chr13:23341656 [GRCh38]
Chr13:23915795 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.171+13C>G |
single nucleotide variant |
Spastic paraplegia [RCV003859418] |
Chr13:23375106 [GRCh38]
Chr13:23949245 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+17G>A |
single nucleotide variant |
Spastic paraplegia [RCV003590897] |
Chr13:23368385 [GRCh38]
Chr13:23942524 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.277A>G (p.Thr93Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003590903] |
Chr13:23368470 [GRCh38]
Chr13:23942609 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13101T>C (p.Phe4367=) |
single nucleotide variant |
Spastic paraplegia [RCV003590956] |
Chr13:23330775 [GRCh38]
Chr13:23904914 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4869T>C (p.Asp1623=) |
single nucleotide variant |
Spastic paraplegia [RCV003591045] |
Chr13:23339007 [GRCh38]
Chr13:23913146 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9504A>T (p.Ala3168=) |
single nucleotide variant |
Spastic paraplegia [RCV003847794] |
Chr13:23334372 [GRCh38]
Chr13:23908511 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5587G>A (p.Val1863Met) |
single nucleotide variant |
Spastic paraplegia [RCV003588082] |
Chr13:23338289 [GRCh38]
Chr13:23912428 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9906T>A (p.Leu3302=) |
single nucleotide variant |
Spastic paraplegia [RCV003841790] |
Chr13:23333970 [GRCh38]
Chr13:23908109 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12813T>C (p.Pro4271=) |
single nucleotide variant |
Spastic paraplegia [RCV003589686] |
Chr13:23331063 [GRCh38]
Chr13:23905202 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9645T>G (p.Ala3215=) |
single nucleotide variant |
Spastic paraplegia [RCV003589726] |
Chr13:23334231 [GRCh38]
Chr13:23908370 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3063T>G (p.Ser1021=) |
single nucleotide variant |
Spastic paraplegia [RCV003591025] |
Chr13:23340813 [GRCh38]
Chr13:23914952 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6970C>A (p.His2324Asn) |
single nucleotide variant |
Spastic paraplegia [RCV003591030] |
Chr13:23336906 [GRCh38]
Chr13:23911045 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.345+15G>A |
single nucleotide variant |
Spastic paraplegia [RCV003588075] |
Chr13:23368387 [GRCh38]
Chr13:23942526 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3159C>G (p.Leu1053=) |
single nucleotide variant |
Spastic paraplegia [RCV003589817] |
Chr13:23340717 [GRCh38]
Chr13:23914856 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9411T>C (p.Asp3137=) |
single nucleotide variant |
Spastic paraplegia [RCV003591093] |
Chr13:23334465 [GRCh38]
Chr13:23908604 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10394T>G (p.Val3465Gly) |
single nucleotide variant |
Spastic paraplegia [RCV003588249] |
Chr13:23333482 [GRCh38]
Chr13:23907621 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.2093+8T>G |
single nucleotide variant |
Spastic paraplegia [RCV003588255] |
Chr13:23354511 [GRCh38]
Chr13:23928650 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1829C>T (p.Ala610Val) |
single nucleotide variant |
Spastic paraplegia [RCV003588406] |
Chr13:23354783 [GRCh38]
Chr13:23928922 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.3778C>T (p.His1260Tyr) |
single nucleotide variant |
Spastic paraplegia [RCV003589845] |
Chr13:23340098 [GRCh38]
Chr13:23914237 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3197G>T (p.Cys1066Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003824123] |
Chr13:23340679 [GRCh38]
Chr13:23914818 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3109T>C (p.Leu1037=) |
single nucleotide variant |
Spastic paraplegia [RCV003588342] |
Chr13:23340767 [GRCh38]
Chr13:23914906 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7383C>A (p.Leu2461=) |
single nucleotide variant |
Spastic paraplegia [RCV003588220] |
Chr13:23336493 [GRCh38]
Chr13:23910632 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13233A>G (p.Glu4411=) |
single nucleotide variant |
Spastic paraplegia [RCV003589997] |
Chr13:23330643 [GRCh38]
Chr13:23904782 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.5374C>T (p.Leu1792Phe) |
single nucleotide variant |
Spastic paraplegia [RCV003590024] |
Chr13:23338502 [GRCh38]
Chr13:23912641 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.260-19_260-18del |
deletion |
Spastic paraplegia [RCV003588402] |
Chr13:23368505..23368506 [GRCh38]
Chr13:23942644..23942645 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4894A>C (p.Thr1632Pro) |
single nucleotide variant |
Spastic paraplegia [RCV003588422] |
Chr13:23338982 [GRCh38]
Chr13:23913121 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9969T>C (p.Ala3323=) |
single nucleotide variant |
Spastic paraplegia [RCV003818646] |
Chr13:23333907 [GRCh38]
Chr13:23908046 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12775C>G (p.Pro4259Ala) |
single nucleotide variant |
Spastic paraplegia [RCV003588279] |
Chr13:23331101 [GRCh38]
Chr13:23905240 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8816C>T (p.Pro2939Leu) |
single nucleotide variant |
Spastic paraplegia [RCV003589944] |
Chr13:23335060 [GRCh38]
Chr13:23909199 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.21-2A>G |
single nucleotide variant |
Spastic paraplegia [RCV003590020] |
Chr13:23375271 [GRCh38]
Chr13:23949410 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.8571T>A (p.Ile2857=) |
single nucleotide variant |
Spastic paraplegia [RCV003590011] |
Chr13:23335305 [GRCh38]
Chr13:23909444 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4300C>T (p.Leu1434=) |
single nucleotide variant |
Spastic paraplegia [RCV003590091] |
Chr13:23339576 [GRCh38]
Chr13:23913715 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3511T>C (p.Leu1171=) |
single nucleotide variant |
Spastic paraplegia [RCV003590189] |
Chr13:23340365 [GRCh38]
Chr13:23914504 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10614G>A (p.Lys3538=) |
single nucleotide variant |
Spastic paraplegia [RCV003588538] |
Chr13:23333262 [GRCh38]
Chr13:23907401 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1392C>T (p.Ile464=) |
single nucleotide variant |
Spastic paraplegia [RCV003588488] |
Chr13:23355220 [GRCh38]
Chr13:23929359 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.7204C>G (p.Leu2402Val) |
single nucleotide variant |
Spastic paraplegia [RCV003588333] |
Chr13:23336672 [GRCh38]
Chr13:23910811 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8511A>G (p.Ile2837Met) |
single nucleotide variant |
Spastic paraplegia [RCV003590037] |
Chr13:23335365 [GRCh38]
Chr13:23909504 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.9292dup (p.Ile3098fs) |
duplication |
Spastic paraplegia [RCV003590133] |
Chr13:23334583..23334584 [GRCh38]
Chr13:23908722..23908723 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12993G>T (p.Arg4331=) |
single nucleotide variant |
Spastic paraplegia [RCV003590162] |
Chr13:23330883 [GRCh38]
Chr13:23905022 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8740A>G (p.Met2914Val) |
single nucleotide variant |
Spastic paraplegia [RCV003590249] |
Chr13:23335136 [GRCh38]
Chr13:23909275 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.44_45del (p.Pro15fs) |
deletion |
Spastic paraplegia [RCV003590291] |
Chr13:23375245..23375246 [GRCh38]
Chr13:23949384..23949385 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.1647dup (p.Glu550fs) |
duplication |
Spastic paraplegia [RCV003588973] |
Chr13:23354964..23354965 [GRCh38]
Chr13:23929103..23929104 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9710A>G (p.Asn3237Ser) |
single nucleotide variant |
Spastic paraplegia [RCV003588438] |
Chr13:23334166 [GRCh38]
Chr13:23908305 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4154A>G (p.Lys1385Arg) |
single nucleotide variant |
Spastic paraplegia [RCV003590267] |
Chr13:23339722 [GRCh38]
Chr13:23913861 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.484G>A (p.Ala162Thr) |
single nucleotide variant |
Spastic paraplegia [RCV003589142] |
Chr13:23358455 [GRCh38]
Chr13:23932594 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.12126A>G (p.Arg4042=) |
single nucleotide variant |
Spastic paraplegia [RCV003588512] |
Chr13:23331750 [GRCh38]
Chr13:23905889 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.346-13del |
deletion |
Spastic paraplegia [RCV003588388] |
Chr13:23365290 [GRCh38]
Chr13:23939429 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.346-19dup |
duplication |
Spastic paraplegia [RCV003588392] |
Chr13:23365295..23365296 [GRCh38]
Chr13:23939434..23939435 [GRCh37]
Chr13:13q12.12 |
benign |
| NM_014363.6(SACS):c.5775G>A (p.Leu1925=) |
single nucleotide variant |
Spastic paraplegia [RCV003590436] |
Chr13:23338101 [GRCh38]
Chr13:23912240 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12757C>T (p.Gln4253Ter) |
single nucleotide variant |
Spastic paraplegia [RCV003843868] |
Chr13:23331119 [GRCh38]
Chr13:23905258 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.12549G>A (p.Gly4183=) |
single nucleotide variant |
Spastic paraplegia [RCV003845223] |
Chr13:23331327 [GRCh38]
Chr13:23905466 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.11181A>G (p.Gln3727=) |
single nucleotide variant |
Spastic paraplegia [RCV003848352] |
Chr13:23332695 [GRCh38]
Chr13:23906834 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.666T>C (p.Phe222=) |
single nucleotide variant |
Spastic paraplegia [RCV003589121] |
Chr13:23355946 [GRCh38]
Chr13:23930085 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6497G>A (p.Arg2166His) |
single nucleotide variant |
Spastic paraplegia [RCV003588424] |
Chr13:23337379 [GRCh38]
Chr13:23911518 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.2043A>C (p.Ser681=) |
single nucleotide variant |
Spastic paraplegia [RCV003590501] |
Chr13:23354569 [GRCh38]
Chr13:23928708 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1620del (p.Val541fs) |
deletion |
Spastic paraplegia [RCV003590534] |
Chr13:23354992 [GRCh38]
Chr13:23929131 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9167A>G (p.Tyr3056Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003590605] |
Chr13:23334709 [GRCh38]
Chr13:23908848 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.39G>C (p.Val13=) |
single nucleotide variant |
Spastic paraplegia [RCV003845936] |
Chr13:23375251 [GRCh38]
Chr13:23949390 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13236_13239del (p.Arg4412fs) |
deletion |
Spastic paraplegia [RCV003858932] |
Chr13:23330637..23330640 [GRCh38]
Chr13:23904776..23904779 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.172-12G>T |
single nucleotide variant |
Spastic paraplegia [RCV003589224] |
Chr13:23371177 [GRCh38]
Chr13:23945316 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12169T>C (p.Leu4057=) |
single nucleotide variant |
Spastic paraplegia [RCV003590730] |
Chr13:23331707 [GRCh38]
Chr13:23905846 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.3822A>G (p.Lys1274=) |
single nucleotide variant |
Spastic paraplegia [RCV003589171] |
Chr13:23340054 [GRCh38]
Chr13:23914193 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.4172T>C (p.Ile1391Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004447319] |
Chr13:23339704 [GRCh38]
Chr13:23913843 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4826A>C (p.Lys1609Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004447320] |
Chr13:23339050 [GRCh38]
Chr13:23913189 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.4834A>G (p.Arg1612Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004447321] |
Chr13:23339042 [GRCh38]
Chr13:23913181 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2470del (p.Ser824fs) |
deletion |
SACS-related condition [RCV003898940] |
Chr13:23341406 [GRCh38]
Chr13:23915545 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| GRCh37/hg19 13q12.12(chr13:23564568-24888355)x1 |
copy number loss |
not provided [RCV004442743] |
Chr13:23564568..24888355 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2508del (p.Pro837fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003991660] |
Chr13:23341368 [GRCh38]
Chr13:23915507 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.10054A>G (p.Thr3352Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004447314] |
Chr13:23333822 [GRCh38]
Chr13:23907961 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12826A>G (p.Ile4276Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004447316] |
Chr13:23331050 [GRCh38]
Chr13:23905189 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.847A>G (p.Ser283Gly) |
single nucleotide variant |
not provided [RCV003887432] |
Chr13:23355765 [GRCh38]
Chr13:23929904 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12499A>G (p.Thr4167Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004447315] |
Chr13:23331377 [GRCh38]
Chr13:23905516 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7465C>T (p.Pro2489Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004447327] |
Chr13:23336411 [GRCh38]
Chr13:23910550 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.12910C>T (p.Pro4304Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004447317] |
Chr13:23330966 [GRCh38]
Chr13:23905105 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5305C>T (p.His1769Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004447323] |
Chr13:23338571 [GRCh38]
Chr13:23912710 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6878T>C (p.Val2293Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004447326] |
Chr13:23336998 [GRCh38]
Chr13:23911137 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.95G>A (p.Arg32His) |
single nucleotide variant |
Inborn genetic diseases [RCV004447329] |
Chr13:23375195 [GRCh38]
Chr13:23949334 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 |
copy number gain |
not provided [RCV004442747] |
Chr13:19436287..36278224 [GRCh37]
Chr13:13q11-13.3 |
uncertain significance |
| NM_014363.6(SACS):c.370G>T (p.Ala124Ser) |
single nucleotide variant |
not provided [RCV003886870] |
Chr13:23365253 [GRCh38]
Chr13:23939392 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.1023G>C (p.Leu341=) |
single nucleotide variant |
SACS-related condition [RCV003964640] |
Chr13:23355589 [GRCh38]
Chr13:23929728 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.13561_13562del (p.Thr4520_Asn4521insTer) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003994645] |
Chr13:23330314..23330315 [GRCh38]
Chr13:23904453..23904454 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.7665T>G (p.Asp2555Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003990651] |
Chr13:23336211 [GRCh38]
Chr13:23910350 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9463C>T (p.Leu3155Phe) |
single nucleotide variant |
not provided [RCV003887431] |
Chr13:23334413 [GRCh38]
Chr13:23908552 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13538G>C (p.Ser4513Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004447318] |
Chr13:23330338 [GRCh38]
Chr13:23904477 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6155C>G (p.Ser2052Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004447324] |
Chr13:23337721 [GRCh38]
Chr13:23911860 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.2229del (p.Phe743fs) |
deletion |
Charlevoix-Saguenay spastic ataxia [RCV003993717] |
Chr13:23341647 [GRCh38]
Chr13:23915786 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.3948A>G (p.Gln1316=) |
single nucleotide variant |
Spastic paraplegia [RCV003833399] |
Chr13:23339928 [GRCh38]
Chr13:23914067 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.1058G>A (p.Gly353Glu) |
single nucleotide variant |
Spastic paraplegia [RCV002685587] |
Chr13:23355554 [GRCh38]
Chr13:23929693 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5170T>C (p.Leu1724=) |
single nucleotide variant |
Spastic paraplegia [RCV003026987] |
Chr13:23338706 [GRCh38]
Chr13:23912845 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.6469G>A (p.Asp2157Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003199646] |
Chr13:23337407 [GRCh38]
Chr13:23911546 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5468G>C (p.Cys1823Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003286525] |
Chr13:23338408 [GRCh38]
Chr13:23912547 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs) |
insertion |
Charlevoix-Saguenay spastic ataxia [RCV003337918] |
Chr13:23340949..23340950 [GRCh38]
Chr13:23915088..23915089 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.2374G>C (p.Glu792Gln) |
single nucleotide variant |
not provided [RCV003334155] |
Chr13:23341502 [GRCh38]
Chr13:23915641 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.6202A>G (p.Ile2068Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003356431] |
Chr13:23337674 [GRCh38]
Chr13:23911813 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu) |
single nucleotide variant |
Charlevoix-Saguenay spastic ataxia [RCV003336692] |
Chr13:23330859 [GRCh38]
Chr13:23904998 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs) |
microsatellite |
Charlevoix-Saguenay spastic ataxia [RCV003336691] |
Chr13:23334601..23334604 [GRCh38]
Chr13:23908740..23908743 [GRCh37]
Chr13:13q12.12 |
pathogenic |
| NM_014363.6(SACS):c.7207G>A (p.Val2403Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003379178] |
Chr13:23336669 [GRCh38]
Chr13:23910808 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9896A>C (p.Asp3299Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003360481] |
Chr13:23333980 [GRCh38]
Chr13:23908119 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.11561T>C (p.Val3854Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003381152] |
Chr13:23332315 [GRCh38]
Chr13:23906454 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.5678C>T (p.Thr1893Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003369540] |
Chr13:23338198 [GRCh38]
Chr13:23912337 [GRCh37]
Chr13:13q12.12 |
uncertain significance |
| NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs) |
indel |
Charlevoix-Saguenay spastic ataxia [RCV003472578] |
Chr13:23334289..23334296 [GRCh38]
Chr13:23908428..23908435 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.7499dup (p.Arg2502fs) |
duplication |
Charlevoix-Saguenay spastic ataxia [RCV003472581] |
Chr13:23336376..23336377 [GRCh38]
Chr13:23910515..23910516 [GRCh37]
Chr13:13q12.12 |
likely pathogenic |
| NM_014363.6(SACS):c.6147C>T (p.Asn2049=) |
single nucleotide variant |
Spastic paraplegia [RCV003750740] |
Chr13:23337729 [GRCh38]
Chr13:23911868 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.10068G>C (p.Glu3356Asp) |
single nucleotide variant |
Spastic paraplegia [RCV003750765] |
Chr13:23333808 [GRCh38]
Chr13:23907947 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.12779C>G (p.Ser4260Cys) |
single nucleotide variant |
Spastic paraplegia [RCV003750987] |
Chr13:23331097 [GRCh38]
Chr13:23905236 [GRCh37]
Chr13:13q12.12 |
likely benign |
| NM_014363.6(SACS):c.8712T>C (p.Gly2904=) |
single nucleotide variant |
Spastic paraplegia [RCV003750994] |
Chr13:23335164 [GRCh38]
Chr13:23909303 [GRCh37]
Chr13:13q12.12 |
likely benign |
