| 8559560 | CV21849 | deletion | SPG7, 2-BP DEL, NT784 | Hereditary spastic paraplegia 7 [RCV000007212] | pathogenic | | | | Human | | name |
| 8559561 | CV21850 | insertion | SPG7, 1-BP INS, 2228A | Hereditary spastic paraplegia 7 [RCV000007213] | pathogenic | | | | Human | | name |
| 8559565 | CV21856 | deletion | SPG7, 1-BP DEL, 1616C | Hereditary spastic paraplegia 7 [RCV000007219] | pathogenic | | | | Human | | name |
| 11544949 | CV255964 | single nucleotide variant | NM_003119.4(SPG7):c.*7G>A | not specified [RCV000244479] | likely benign | 16 | 89557100 | 89557100 | Human | | name |
| 11613778 | CV326826 | single nucleotide variant | NM_003119.4(SPG7):c.*33C>T | Hereditary spastic paraplegia 7 [RCV000271636]|not provided [RCV001618564] | benign|likely benign | 16 | 89557126 | 89557126 | Human | 1 | name |
| 11653394 | CV336704 | single nucleotide variant | NM_003119.4(SPG7):c.*97G>A | Hereditary spastic paraplegia 7 [RCV000310532] | uncertain significance | 16 | 89557190 | 89557190 | Human | 1 | name |
| 11630969 | CV344563 | single nucleotide variant | NM_003119.4(SPG7):c.*11T>A | Hereditary spastic paraplegia 7 [RCV000363868] | uncertain significance | 16 | 89557104 | 89557104 | Human | 1 | name |
| 28887894 | CV876197 | single nucleotide variant | NM_003119.4(SPG7):c.*24C>T | Hereditary spastic paraplegia 7 [RCV001119768] | uncertain significance | 16 | 89557117 | 89557117 | Human | 1 | name |
| 28887897 | CV876198 | single nucleotide variant | NM_003119.4(SPG7):c.*99G>A | Hereditary spastic paraplegia 7 [RCV001119769] | uncertain significance | 16 | 89557192 | 89557192 | Human | 1 | name |
| 150335532 | CV1172927 | single nucleotide variant | NM_003119.4(SPG7):c.*122T>C | not provided [RCV001540609] | likely benign | 16 | 89557215 | 89557215 | Human | | name |
| 150412810 | CV1178094 | single nucleotide variant | NM_003119.4(SPG7):c.*106A>G | not provided [RCV001547613] | likely benign | 16 | 89557199 | 89557199 | Human | | name |
| 150499110 | CV1209029 | single nucleotide variant | NM_003119.4(SPG7):c.*118A>G | not provided [RCV001594246] | likely benign | 16 | 89557211 | 89557211 | Human | | name |
| 11624491 | CV336707 | single nucleotide variant | NM_003119.4(SPG7):c.*656G>C | Hereditary spastic paraplegia 7 [RCV000386476] | likely benign|uncertain significance | 16 | 89557749 | 89557749 | Human | 1 | name |
| 11619266 | CV342929 | single nucleotide variant | NM_003119.4(SPG7):c.*362C>T | Hereditary spastic paraplegia 7 [RCV000323374] | likely benign|uncertain significance | 16 | 89557455 | 89557455 | Human | 1 | name |
| 11661195 | CV342933 | duplication | NM_003119.4(SPG7):c.*524dup | Spastic Paraplegia, Recessive [RCV000374122] | uncertain significance | 16 | 89557616 | 89557617 | Human | 1 | name |
| 11621424 | CV342935 | single nucleotide variant | NM_003119.4(SPG7):c.*592C>T | Hereditary spastic paraplegia 7 [RCV000348309] | likely benign|uncertain significance | 16 | 89557685 | 89557685 | Human | 1 | name |
| 11630746 | CV344565 | single nucleotide variant | NM_003119.4(SPG7):c.*140G>T | Hereditary spastic paraplegia 7 [RCV000358365]|not provided [RCV001572048] | likely benign|uncertain significance | 16 | 89557233 | 89557233 | Human | 1 | name |
| 11626574 | CV344572 | single nucleotide variant | NM_003119.4(SPG7):c.*195C>T | Hereditary spastic paraplegia 7 [RCV000266010]|not provided [RCV001590955] | likely benign|uncertain significance | 16 | 89557288 | 89557288 | Human | 1 | name |
| 11631525 | CV344574 | single nucleotide variant | NM_003119.4(SPG7):c.*398G>A | Hereditary spastic paraplegia 7 [RCV000379835] | uncertain significance | 16 | 89557491 | 89557491 | Human | 1 | name |
| 11626202 | CV344576 | single nucleotide variant | NM_003119.4(SPG7):c.*432G>A | Hereditary spastic paraplegia 7 [RCV000259542] | uncertain significance | 16 | 89557525 | 89557525 | Human | 1 | name |
| 11627409 | CV344577 | single nucleotide variant | NM_003119.4(SPG7):c.*587G>A | Hereditary spastic paraplegia 7 [RCV000281694] | likely benign|uncertain significance | 16 | 89557680 | 89557680 | Human | 1 | name |
| 25320582 | CV806285 | deletion | NM_003119.4(SPG7):c.1939del | Hereditary spastic paraplegia 7 [RCV001860602]|not provided [RCV001009230] | pathogenic | 16 | 89553793 | 89553793 | Human | 1 | name |
| 28887900 | CV876199 | single nucleotide variant | NM_003119.4(SPG7):c.*222G>A | Hereditary spastic paraplegia 7 [RCV001119770] | uncertain significance | 16 | 89557315 | 89557315 | Human | 1 | name |
| 28893542 | CV876200 | single nucleotide variant | NM_003119.4(SPG7):c.*341A>G | Hereditary spastic paraplegia 7 [RCV001121747] | uncertain significance | 16 | 89557434 | 89557434 | Human | 1 | name |
| 28893547 | CV876201 | single nucleotide variant | NM_003119.4(SPG7):c.*441T>C | Hereditary spastic paraplegia 7 [RCV001121748] | likely benign | 16 | 89557534 | 89557534 | Human | 1 | name |
| 28893550 | CV876202 | single nucleotide variant | NM_003119.4(SPG7):c.*483A>G | Hereditary spastic paraplegia 7 [RCV001121749] | uncertain significance | 16 | 89557576 | 89557576 | Human | 1 | name |
| 28893554 | CV876203 | single nucleotide variant | NM_003119.4(SPG7):c.*549A>C | Hereditary spastic paraplegia 7 [RCV001121750] | likely benign | 16 | 89557642 | 89557642 | Human | 1 | name |
| 127250182 | CV1056364 | single nucleotide variant | NM_003119.4(SPG7):c.286+1G>T | Hereditary spastic paraplegia 7 [RCV001378304] | likely pathogenic | 16 | 89510593 | 89510593 | Human | 1 | name |
| 127232522 | CV1082582 | single nucleotide variant | NM_003119.4(SPG7):c.988-6G>A | Hereditary spastic paraplegia 7 [RCV001413495] | likely benign | 16 | 89531898 | 89531898 | Human | 1 | name |
| 150465022 | CV1201007 | duplication | NM_003119.4(SPG7):c.184-4dup | not provided [RCV001587487] | likely benign | 16 | 89510471 | 89510472 | Human | | name |
| 151753804 | CV1335842 | single nucleotide variant | NM_003119.4(SPG7):c.618+8A>G | Hereditary spastic paraplegia 7 [RCV002074410]|Hereditary spastic paraplegia [RCV001848242] | likely benign|uncertain significance | 16 | 89524255 | 89524255 | Human | 2 | name |
| 151882560 | CV1383835 | single nucleotide variant | NM_003119.4(SPG7):c.987+5A>C | Hereditary spastic paraplegia 7 [RCV001886752]|not provided [RCV004793571] | uncertain significance | 16 | 89530813 | 89530813 | Human | 1 | name |
| 151818343 | CV1482095 | single nucleotide variant | NM_003119.4(SPG7):c.988-3C>T | Hereditary spastic paraplegia 7 [RCV002029643] | uncertain significance | 16 | 89531901 | 89531901 | Human | 1 | name |
| 151730100 | CV1515925 | single nucleotide variant | NM_003119.4(SPG7):c.286+3A>G | Hereditary spastic paraplegia 7 [RCV001984106]|not provided [RCV004694099] | uncertain significance | 16 | 89510595 | 89510595 | Human | 1 | name |
| 155966335 | CV2134878 | single nucleotide variant | NM_003119.4(SPG7):c.759-5G>A | Hereditary spastic paraplegia 7 [RCV002972633]|not provided [RCV004721094] | uncertain significance | 16 | 89529472 | 89529472 | Human | 1 | name |
| 10766702 | CV213916 | single nucleotide variant | NM_003119.4(SPG7):c.988-1G>A | Hereditary spastic paraplegia 7 [RCV000206709]|Hereditary spastic paraplegia [RCV001847907]|SPG7-related disorder [RCV003897433]|not provided [RCV005230073] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 16 | 89531903 | 89531903 | Human | 2 | name , alternate_id |
| 156148017 | CV2212877 | single nucleotide variant | NM_003119.4(SPG7):c.619-3C>T | Inborn genetic diseases [RCV002697466] | uncertain significance | 16 | 89526326 | 89526326 | Human | 1 | name |
| 329351924 | CV2476657 | single nucleotide variant | NM_003119.4(SPG7):c.861+8C>G | not provided [RCV003222889] | uncertain significance | 16 | 89529587 | 89529587 | Human | | name |
| 11550314 | CV255959 | single nucleotide variant | NM_003119.4(SPG7):c.987+5A>G | Hereditary spastic paraplegia 7 [RCV000576601]|not provided [RCV001706335]|not specified [RCV000251593] | benign | 16 | 89530813 | 89530813 | Human | 1 | name |
| 401867744 | CV2749048 | single nucleotide variant | NM_003119.4(SPG7):c.376+2T>A | Hereditary spastic paraplegia 7 [RCV003331873] | likely pathogenic | 16 | 89513039 | 89513039 | Human | 1 | name |
| 405265883 | CV3220950 | single nucleotide variant | NM_003119.4(SPG7):c.184-3C>A | SPG7-related disorder [RCV003969106]|not provided [RCV004697329] | likely benign|uncertain significance | 16 | 89510487 | 89510487 | Human | 1 | name , alternate_id |
| 405746318 | CV3226389 | single nucleotide variant | NM_003119.4(SPG7):c.377-7G>A | Hereditary spastic paraplegia 7 [RCV003991380] | uncertain significance | 16 | 89523999 | 89523999 | Human | 1 | name |
| 408394803 | CV3395439 | single nucleotide variant | NM_003119.4(SPG7):c.862-3C>T | Hereditary spastic paraplegia 7 [RCV004765071] | uncertain significance | 16 | 89530680 | 89530680 | Human | 1 | name |
| 596927385 | CV3536674 | single nucleotide variant | NM_003119.4(SPG7):c.988-7C>T | Hereditary spastic paraplegia 7 [RCV004790084] | uncertain significance | 16 | 89531897 | 89531897 | Human | 1 | name |
| 596944805 | CV3543503 | single nucleotide variant | NM_003119.4(SPG7):c.287-1G>C | not provided [RCV004801625] | likely pathogenic | 16 | 89512947 | 89512947 | Human | | name |
| 597758859 | CV3711972 | single nucleotide variant | NM_003119.4(SPG7):c.987+2T>C | Hereditary spastic paraplegia 7 [RCV005017895] | likely pathogenic | 16 | 89530810 | 89530810 | Human | 1 | name |
| 597962839 | CV3819464 | single nucleotide variant | NM_003119.4(SPG7):c.286+4T>A | Hereditary spastic paraplegia 7 [RCV005164180] | uncertain significance | 16 | 89510596 | 89510596 | Human | 1 | name |
| 597869916 | CV3839312 | single nucleotide variant | NM_003119.4(SPG7):c.618+9G>C | Hereditary spastic paraplegia 7 [RCV005176423] | likely benign | 16 | 89524256 | 89524256 | Human | 1 | name |
| 12897766 | CV402128 | single nucleotide variant | NM_003119.4(SPG7):c.376+1G>T | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV003447529]|Hereditary spastic paraplegia 7 [RCV000467232]|not provided [RCV000522524] | pathogenic|likely pathogenic | 16 | 89513038 | 89513038 | Human | 2 | name |
| 13485864 | CV466101 | single nucleotide variant | NM_003119.4(SPG7):c.377-6G>A | Hereditary spastic paraplegia 7 [RCV000553416] | likely benign | 16 | 89524000 | 89524000 | Human | 1 | name |
| 13532482 | CV505859 | single nucleotide variant | NM_003119.4(SPG7):c.377-8C>T | Hereditary spastic paraplegia 7 [RCV005056322]|not specified [RCV000606812] | likely benign | 16 | 89523998 | 89523998 | Human | 1 | name |
| 13540105 | CV506628 | deletion | NM_003119.4(SPG7):c.184-4del | Hereditary spastic paraplegia 7 [RCV003994045]|not provided [RCV001704832] | benign | 16 | 89510472 | 89510472 | Human | 1 | name |
| 13609972 | CV530925 | single nucleotide variant | NM_003119.4(SPG7):c.861+1G>T | Hereditary spastic paraplegia 7 [RCV000640981] | pathogenic|likely pathogenic | 16 | 89529580 | 89529580 | Human | 1 | name |
| 13801786 | CV577602 | single nucleotide variant | NM_003119.4(SPG7):c.862-8C>A | not provided [RCV000713487] | uncertain significance | 16 | 89530675 | 89530675 | Human | | name |
| 14396402 | CV612180 | single nucleotide variant | NM_003119.4(SPG7):c.861+1G>C | Hereditary spastic paraplegia 7 [RCV000761358]|not provided [RCV004792432] | pathogenic|likely pathogenic | 16 | 89529580 | 89529580 | Human | 1 | name |
| 14715083 | CV653317 | single nucleotide variant | NM_003119.4(SPG7):c.861+5G>A | Hereditary spastic paraplegia 7 [RCV000799260]|not provided [RCV000996405] | uncertain significance | 16 | 89529584 | 89529584 | Human | 1 | name |
| 15100345 | CV690151 | single nucleotide variant | NM_003119.4(SPG7):c.184-4T>C | Hereditary spastic paraplegia 7 [RCV000870048] | likely benign|conflicting interpretations of pathogenicity | 16 | 89510486 | 89510486 | Human | 1 | name |
| 15099157 | CV690152 | single nucleotide variant | NM_003119.4(SPG7):c.619-6C>T | not provided [RCV000869853] | likely benign | 16 | 89526323 | 89526323 | Human | | name |
| 15105277 | CV690153 | single nucleotide variant | NM_003119.4(SPG7):c.619-4C>G | Hereditary spastic paraplegia 7 [RCV001456340] | likely benign | 16 | 89526325 | 89526325 | Human | 1 | name |
| 15157140 | CV690154 | single nucleotide variant | NM_003119.4(SPG7):c.759-6C>T | Hereditary spastic paraplegia 7 [RCV000868378]|Hereditary spastic paraplegia [RCV001847076] | likely benign|uncertain significance | 16 | 89529471 | 89529471 | Human | 2 | name |
| 15122882 | CV695710 | single nucleotide variant | NM_003119.4(SPG7):c.759-4G>A | Hereditary spastic paraplegia 7 [RCV000874491] | likely benign | 16 | 89529473 | 89529473 | Human | 1 | name |
| 21071510 | CV794061 | single nucleotide variant | NM_003119.4(SPG7):c.619-3C>G | Hereditary spastic paraplegia 7 [RCV002549828]|not provided [RCV000993075] | uncertain significance | 16 | 89526326 | 89526326 | Human | 1 | name |
| 26898869 | CV851691 | single nucleotide variant | NM_003119.4(SPG7):c.861+6T>C | Hereditary spastic paraplegia 7 [RCV001039955] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89529585 | 89529585 | Human | 1 | name |
| 26901810 | CV852135 | duplication | NM_003119.4(SPG7):c.861+2dup | Hereditary spastic paraplegia 7 [RCV001060596]|not provided [RCV001548055] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89529580 | 89529581 | Human | 1 | name |
| 28887194 | CV876736 | single nucleotide variant | NM_003119.4(SPG7):c.183+7C>T | Hereditary spastic paraplegia 7 [RCV001119556] | uncertain significance | 16 | 89508607 | 89508607 | Human | 1 | name |
| 28893061 | CV876737 | single nucleotide variant | NM_003119.4(SPG7):c.619-7C>A | Hereditary spastic paraplegia 7 [RCV001121555] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89526322 | 89526322 | Human | 1 | name |
| 38488100 | CV941153 | single nucleotide variant | NM_003119.4(SPG7):c.759-2A>G | Hereditary spastic paraplegia 7 [RCV001221055]|not provided [RCV001267934] | pathogenic|likely pathogenic | 16 | 89529475 | 89529475 | Human | 1 | name |
| 126758815 | CV997241 | single nucleotide variant | NM_003119.4(SPG7):c.758+4T>C | Hereditary spastic paraplegia 7 [RCV001308834] | uncertain significance | 16 | 89526472 | 89526472 | Human | 1 | name |
| 127331263 | CV1125793 | single nucleotide variant | NM_003119.4(SPG7):c.1663+9G>A | Hereditary spastic paraplegia 7 [RCV001471415] | likely benign | 16 | 89548122 | 89548122 | Human | 1 | name |
| 150414827 | CV1178088 | single nucleotide variant | NM_003119.4(SPG7):c.377-24C>T | not provided [RCV001548305] | likely benign | 16 | 89523982 | 89523982 | Human | | name |
| 150427650 | CV1188453 | single nucleotide variant | NM_003119.4(SPG7):c.287-70A>C | not provided [RCV001561209] | likely benign | 16 | 89512878 | 89512878 | Human | | name |
| 150435214 | CV1233804 | single nucleotide variant | NM_003119.4(SPG7):c.619-47G>A | Hereditary spastic paraplegia 7 [RCV001810178]|not provided [RCV001643931] | benign | 16 | 89526282 | 89526282 | Human | 1 | name |
| 150485627 | CV1250268 | single nucleotide variant | NM_003119.4(SPG7):c.619-50C>T | not provided [RCV001673881] | benign | 16 | 89526279 | 89526279 | Human | | name |
| 150485652 | CV1250274 | single nucleotide variant | NM_003119.4(SPG7):c.286+46C>T | Hereditary spastic paraplegia 7 [RCV001810208]|not provided [RCV001673887] | benign | 16 | 89510638 | 89510638 | Human | 1 | name |
| 150492506 | CV1253948 | single nucleotide variant | NM_003119.4(SPG7):c.862-34G>T | Hereditary spastic paraplegia 7 [RCV001810218]|not provided [RCV001675044] | benign | 16 | 89530649 | 89530649 | Human | 1 | name |
| 150545007 | CV1315379 | single nucleotide variant | NM_003119.4(SPG7):c.1324+1G>C | Hereditary spastic paraplegia 7 [RCV001783795] | likely pathogenic | 16 | 89532637 | 89532637 | Human | | name |
| 150545009 | CV1315380 | single nucleotide variant | NM_003119.4(SPG7):c.1936+2T>A | Hereditary spastic paraplegia 7 [RCV001783796] | likely pathogenic | 16 | 89553137 | 89553137 | Human | 1 | name |
| 151872820 | CV1339758 | single nucleotide variant | NM_003119.4(SPG7):c.1324+2T>G | Hereditary spastic paraplegia 7 [RCV002035895] | pathogenic|likely pathogenic | 16 | 89532638 | 89532638 | Human | 1 | name |
| 151761427 | CV1358216 | single nucleotide variant | NM_003119.4(SPG7):c.1779+5G>T | Hereditary spastic paraplegia 7 [RCV001928567]|not specified [RCV002246592] | uncertain significance | 16 | 89550614 | 89550614 | Human | 1 | name |
| 8692976 | CV142941 | single nucleotide variant | NM_003119.4(SPG7):c.987+19G>A | Hereditary spastic paraplegia 7 [RCV001518549]|not provided [RCV004709337]|not specified [RCV000128199] | benign|likely benign | 16 | 89530827 | 89530827 | Human | 1 | name |
| 151728465 | CV1517526 | single nucleotide variant | NM_003119.4(SPG7):c.377-39A>C | Hereditary spastic paraplegia 7 [RCV002052142] | uncertain significance | 16 | 89523967 | 89523967 | Human | 1 | name |
| 152111180 | CV1537117 | single nucleotide variant | NM_003119.4(SPG7):c.376+18T>A | Hereditary spastic paraplegia 7 [RCV002215510] | likely benign | 16 | 89513055 | 89513055 | Human | 1 | name |
| 152084105 | CV1537357 | single nucleotide variant | NM_003119.4(SPG7):c.861+19A>G | Hereditary spastic paraplegia 7 [RCV002149693] | likely benign | 16 | 89529598 | 89529598 | Human | 1 | name |
| 152084855 | CV1554961 | single nucleotide variant | NM_003119.4(SPG7):c.1553-4A>G | Hereditary spastic paraplegia 7 [RCV002211903] | likely benign | 16 | 89547999 | 89547999 | Human | 1 | name |
| 152161401 | CV1555380 | single nucleotide variant | NM_003119.4(SPG7):c.618+16G>A | Hereditary spastic paraplegia 7 [RCV002103866] | likely benign | 16 | 89524263 | 89524263 | Human | 1 | name |
| 152095112 | CV1575039 | single nucleotide variant | NM_003119.4(SPG7):c.287-15C>G | Hereditary spastic paraplegia 7 [RCV002132520] | likely benign | 16 | 89512933 | 89512933 | Human | 1 | name |
| 152052725 | CV1607285 | single nucleotide variant | NM_003119.4(SPG7):c.1780-7G>C | Hereditary spastic paraplegia 7 [RCV002109179] | likely benign | 16 | 89552972 | 89552972 | Human | 1 | name |
| 152146348 | CV1615319 | single nucleotide variant | NM_003119.4(SPG7):c.862-15G>A | Hereditary spastic paraplegia 7 [RCV002101534] | likely benign | 16 | 89530668 | 89530668 | Human | 1 | name |
| 156409226 | CV1877751 | single nucleotide variant | NM_003119.4(SPG7):c.183+20G>T | Hereditary spastic paraplegia 7 [RCV003071580] | likely benign | 16 | 89508620 | 89508620 | Human | 1 | name |
| 156370738 | CV1905314 | single nucleotide variant | NM_003119.4(SPG7):c.376+12T>C | Hereditary spastic paraplegia 7 [RCV003092404] | likely benign | 16 | 89513049 | 89513049 | Human | 1 | name |
| 156379107 | CV1968254 | single nucleotide variant | NM_003119.4(SPG7):c.1936+8G>A | Hereditary spastic paraplegia 7 [RCV002603834] | likely benign | 16 | 89553143 | 89553143 | Human | 1 | name |
| 156261741 | CV1977578 | single nucleotide variant | NM_003119.4(SPG7):c.758+14A>G | Hereditary spastic paraplegia 7 [RCV002597803] | likely benign | 16 | 89526482 | 89526482 | Human | 1 | name |
| 156051056 | CV2027325 | duplication | NM_003119.4(SPG7):c.183+22dup | Hereditary spastic paraplegia 7 [RCV002736512] | likely benign | 16 | 89508619 | 89508620 | Human | 1 | name |
| 156186519 | CV2033884 | deletion | NM_003119.4(SPG7):c.184-19del | Hereditary spastic paraplegia 7 [RCV002765778] | likely benign | 16 | 89510471 | 89510471 | Human | 1 | name |
| 156118089 | CV2035704 | single nucleotide variant | NM_003119.4(SPG7):c.861+18G>T | Hereditary spastic paraplegia 7 [RCV002785675] | likely benign | 16 | 89529597 | 89529597 | Human | 1 | name |
| 155901407 | CV2043601 | single nucleotide variant | NM_003119.4(SPG7):c.988-12G>C | Hereditary spastic paraplegia 7 [RCV002770993] | likely benign | 16 | 89531892 | 89531892 | Human | 1 | name |
| 156300790 | CV2083317 | single nucleotide variant | NM_003119.4(SPG7):c.759-20G>C | Hereditary spastic paraplegia 7 [RCV002857159] | likely benign | 16 | 89529457 | 89529457 | Human | 1 | name |
| 156216482 | CV2084487 | single nucleotide variant | NM_003119.4(SPG7):c.1936+9C>T | Hereditary spastic paraplegia 7 [RCV002853039] | likely benign | 16 | 89553144 | 89553144 | Human | 1 | name |
| 156111322 | CV2088100 | single nucleotide variant | NM_003119.4(SPG7):c.1553-4A>T | Hereditary spastic paraplegia 7 [RCV002889202] | likely benign | 16 | 89547999 | 89547999 | Human | 1 | name |
| 155925442 | CV2099539 | single nucleotide variant | NM_003119.4(SPG7):c.2182-4C>A | Hereditary spastic paraplegia 7 [RCV002903547] | likely benign | 16 | 89556883 | 89556883 | Human | 1 | name |
| 155940132 | CV2110649 | single nucleotide variant | NM_003119.4(SPG7):c.862-18T>G | Hereditary spastic paraplegia 7 [RCV002904411] | likely benign | 16 | 89530665 | 89530665 | Human | 1 | name |
| 10411212 | CV211752 | single nucleotide variant | NM_003119.4(SPG7):c.862-16T>G | Hereditary spastic paraplegia 7 [RCV002054343]|not provided [RCV004709384]|not specified [RCV000199800] | benign | 16 | 89530667 | 89530667 | Human | 1 | name |
| 156116320 | CV2117557 | single nucleotide variant | NM_003119.4(SPG7):c.861+10G>A | Hereditary spastic paraplegia 7 [RCV002953322] | likely benign | 16 | 89529589 | 89529589 | Human | 1 | name |
| 156205026 | CV2134943 | single nucleotide variant | NM_003119.4(SPG7):c.1664-7C>A | Hereditary spastic paraplegia 7 [RCV002985364] | likely benign | 16 | 89550487 | 89550487 | Human | 1 | name |
| 155961108 | CV2138384 | single nucleotide variant | NM_003119.4(SPG7):c.987+11C>T | Hereditary spastic paraplegia 7 [RCV002972389] | likely benign | 16 | 89530819 | 89530819 | Human | 1 | name |
| 8559563 | CV21852 | indel | SPG7, 2-BP DEL, 1-BP INS, 850 | Hereditary spastic paraplegia 7 [RCV000007215] | pathogenic | | | | Human | | name |
| 11547494 | CV255958 | single nucleotide variant | NM_003119.4(SPG7):c.618+12T>C | Hereditary spastic paraplegia 7 [RCV000602079]|not provided [RCV001711559]|not specified [RCV000247833] | benign | 16 | 89524259 | 89524259 | Human | 1 | name |
| 401919336 | CV2794867 | single nucleotide variant | NM_003119.4(SPG7):c.377-12C>G | not specified [RCV003388542] | likely benign | 16 | 89523994 | 89523994 | Human | | name |
| 401947051 | CV2832174 | single nucleotide variant | NM_003119.4(SPG7):c.1151-1G>C | Hereditary spastic paraplegia 7 [RCV003447699] | pathogenic | 16 | 89532462 | 89532462 | Human | 1 | name |
| 402501704 | CV2890619 | single nucleotide variant | NM_003119.4(SPG7):c.1151-7C>T | Hereditary spastic paraplegia 7 [RCV003508800] | likely benign | 16 | 89532456 | 89532456 | Human | 1 | name |
| 402499202 | CV2891863 | single nucleotide variant | NM_003119.4(SPG7):c.1552+4C>T | Hereditary spastic paraplegia 7 [RCV003508529] | uncertain significance | 16 | 89546764 | 89546764 | Human | 1 | name |
| 402484556 | CV2903644 | single nucleotide variant | NM_003119.4(SPG7):c.2104-1G>C | Hereditary spastic paraplegia 7 [RCV003506846] | likely pathogenic | 16 | 89554485 | 89554485 | Human | 1 | name |
| 405132144 | CV2963486 | single nucleotide variant | NM_003119.4(SPG7):c.988-17T>C | Hereditary spastic paraplegia 7 [RCV003618315] | uncertain significance | 16 | 89531887 | 89531887 | Human | 1 | name |
| 405131473 | CV2971702 | single nucleotide variant | NM_003119.4(SPG7):c.1324+7G>A | Hereditary spastic paraplegia 7 [RCV003618354] | uncertain significance | 16 | 89532643 | 89532643 | Human | 1 | name |
| 405123298 | CV3000887 | single nucleotide variant | NM_003119.4(SPG7):c.759-15T>G | Hereditary spastic paraplegia 7 [RCV003617334] | uncertain significance | 16 | 89529462 | 89529462 | Human | 1 | name |
| 405126311 | CV3033663 | deletion | NM_003119.4(SPG7):c.759-11del | Hereditary spastic paraplegia 7 [RCV003617710] | likely benign|uncertain significance | 16 | 89529464 | 89529464 | Human | 1 | name |
| 405136538 | CV3056749 | single nucleotide variant | NM_003119.4(SPG7):c.619-20C>G | Hereditary spastic paraplegia 7 [RCV003618874] | likely benign | 16 | 89526309 | 89526309 | Human | 1 | name |
| 405136854 | CV3060389 | single nucleotide variant | NM_003119.4(SPG7):c.619-10T>C | Hereditary spastic paraplegia 7 [RCV003618904] | likely benign | 16 | 89526319 | 89526319 | Human | 1 | name |
| 405137078 | CV3068080 | single nucleotide variant | NM_003119.4(SPG7):c.1150+9T>A | Hereditary spastic paraplegia 7 [RCV003618925]|not specified [RCV004783105] | likely benign | 16 | 89532075 | 89532075 | Human | 1 | name |
| 405140547 | CV3078493 | single nucleotide variant | NM_003119.4(SPG7):c.861+20G>C | Hereditary spastic paraplegia 7 [RCV003619019] | likely benign | 16 | 89529599 | 89529599 | Human | 1 | name |
| 405237600 | CV3166627 | single nucleotide variant | NM_003119.4(SPG7):c.183+12C>A | Hereditary spastic paraplegia 7 [RCV003854077] | likely benign | 16 | 89508612 | 89508612 | Human | 1 | name |
| 11625262 | CV326812 | single nucleotide variant | NM_003119.4(SPG7):c.618+14C>T | Hereditary spastic paraplegia 7 [RCV000396965] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89524261 | 89524261 | Human | 1 | name |
| 11618706 | CV326827 | microsatellite | NM_003119.4(SPG7):c.*490CA[3] | Spastic Paraplegia, Recessive [RCV000317158] | likely benign | 16 | 89557582 | 89557583 | Human | | name |
| 408394800 | CV3395436 | single nucleotide variant | NM_003119.4(SPG7):c.1779+1G>T | Hereditary spastic paraplegia 7 [RCV004765068] | pathogenic|likely pathogenic | 16 | 89550610 | 89550610 | Human | 1 | name |
| 596945330 | CV3401466 | duplication | NM_003119.4(SPG7):c.2181+2dup | Hereditary spastic paraplegia 7 [RCV004818486] | likely pathogenic | 16 | 89554564 | 89554565 | Human | 1 | name |
| 597758874 | CV3711977 | single nucleotide variant | NM_003119.4(SPG7):c.2181+1G>T | Hereditary spastic paraplegia 7 [RCV005017898] | likely pathogenic | 16 | 89554564 | 89554564 | Human | 1 | name |
| 597714366 | CV3711978 | single nucleotide variant | NM_003119.4(SPG7):c.2181+5G>A | Hereditary spastic paraplegia 7 [RCV005010072] | likely pathogenic | 16 | 89554568 | 89554568 | Human | 1 | name |
| 597837267 | CV3736533 | single nucleotide variant | NM_003119.4(SPG7):c.861+18G>C | Hereditary spastic paraplegia 7 [RCV005064206] | likely benign | 16 | 89529597 | 89529597 | Human | 1 | name |
| 597945365 | CV3755352 | single nucleotide variant | NM_003119.4(SPG7):c.987+16G>T | Hereditary spastic paraplegia 7 [RCV005078361] | likely benign | 16 | 89530824 | 89530824 | Human | 1 | name |
| 12840913 | CV375640 | single nucleotide variant | NM_003119.4(SPG7):c.618+15G>A | not specified [RCV000431613] | likely benign | 16 | 89524262 | 89524262 | Human | | name |
| 12840039 | CV375651 | single nucleotide variant | NM_003119.4(SPG7):c.2103+7C>T | Hereditary spastic paraplegia 7 [RCV002063446]|SPG7-related disorder [RCV003942432]|not specified [RCV000429942] | likely benign | 16 | 89553967 | 89553967 | Human | 1 | name , alternate_id |
| 597955340 | CV3757597 | single nucleotide variant | NM_003119.4(SPG7):c.376+16G>A | Hereditary spastic paraplegia 7 [RCV005080263] | likely benign | 16 | 89513053 | 89513053 | Human | 1 | name |
| 12833968 | CV375825 | single nucleotide variant | NM_003119.4(SPG7):c.2103+8G>A | not specified [RCV000419508] | likely benign | 16 | 89553968 | 89553968 | Human | | name |
| 597835060 | CV3760893 | single nucleotide variant | NM_003119.4(SPG7):c.861+17A>G | Hereditary spastic paraplegia 7 [RCV005085444] | likely benign | 16 | 89529596 | 89529596 | Human | 1 | name |
| 597857120 | CV3769450 | single nucleotide variant | NM_003119.4(SPG7):c.184-17T>C | Hereditary spastic paraplegia 7 [RCV005105491] | likely benign | 16 | 89510473 | 89510473 | Human | 1 | name |
| 597858342 | CV3769615 | single nucleotide variant | NM_003119.4(SPG7):c.287-12T>C | Hereditary spastic paraplegia 7 [RCV005105657] | likely benign | 16 | 89512936 | 89512936 | Human | 1 | name |
| 12842424 | CV377952 | single nucleotide variant | NM_003119.4(SPG7):c.1325-6C>T | Hereditary spastic paraplegia 7 [RCV000474127]|Inborn genetic diseases [RCV002524805]|not provided [RCV003456395]|not specified [RCV000434380] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89544642 | 89544642 | Human | 2 | name |
| 12846868 | CV377966 | single nucleotide variant | NM_003119.4(SPG7):c.1553-6T>G | SPG7-related disorder [RCV003899889]|not specified [RCV000442475] | likely benign | 16 | 89547997 | 89547997 | Human | 1 | name , alternate_id |
| 597854226 | CV3805926 | single nucleotide variant | NM_003119.4(SPG7):c.184-19G>T | Hereditary spastic paraplegia 7 [RCV005145856] | likely benign | 16 | 89510471 | 89510471 | Human | 1 | name |
| 617152035 | CV4018251 | single nucleotide variant | NM_003119.4(SPG7):c.287-11A>T | not specified [RCV005418511] | likely benign | 16 | 89512937 | 89512937 | Human | | name |
| 12906053 | CV413448 | single nucleotide variant | NM_003119.4(SPG7):c.1449+5G>C | not provided [RCV000488361]|not specified [RCV005418163] | uncertain significance | 16 | 89544777 | 89544777 | Human | | name |
| 13488315 | CV466894 | single nucleotide variant | NM_003119.4(SPG7):c.1937-2A>G | Hereditary spastic paraplegia 7 [RCV000554743]|not provided [RCV005000165] | pathogenic|likely pathogenic | 16 | 89553792 | 89553792 | Human | 1 | name |
| 13526237 | CV505684 | single nucleotide variant | NM_003119.4(SPG7):c.1937-9G>A | Hereditary spastic paraplegia 7 [RCV005091619]|not provided [RCV001722616] | likely benign | 16 | 89553785 | 89553785 | Human | 1 | name |
| 13609978 | CV530504 | single nucleotide variant | NM_003119.4(SPG7):c.1151-8C>T | Hereditary spastic paraplegia 7 [RCV002060744]|Hereditary spastic paraplegia [RCV001849015] | benign|uncertain significance | 16 | 89532455 | 89532455 | Human | 2 | name |
| 13802758 | CV570640 | single nucleotide variant | NM_003119.4(SPG7):c.1553-2A>G | Hereditary spastic paraplegia 7 [RCV000698570]|not provided [RCV001091057] | pathogenic|likely pathogenic | 16 | 89548001 | 89548001 | Human | 1 | name |
| 14696055 | CV608910 | single nucleotide variant | NM_003119.4(SPG7):c.2104-2A>G | Hereditary spastic paraplegia 7 [RCV000786074] | pathogenic|likely pathogenic | 16 | 89554484 | 89554484 | Human | 1 | name |
| 14731309 | CV667660 | single nucleotide variant | NM_003119.4(SPG7):c.987+57C>T | not provided [RCV000836061] | likely benign | 16 | 89530865 | 89530865 | Human | | name |
| 14978260 | CV677260 | single nucleotide variant | NM_003119.4(SPG7):c.1779+5G>C | Spastic paraplegia [RCV000850329] | uncertain significance | 16 | 89550614 | 89550614 | Human | 2 | name |
| 15109543 | CV776234 | single nucleotide variant | NM_003119.4(SPG7):c.1553-5G>C | Hereditary spastic paraplegia 7 [RCV001399326] | likely benign | 16 | 89547998 | 89547998 | Human | 1 | name |
| 15175736 | CV776600 | single nucleotide variant | NM_003119.4(SPG7):c.1325-8C>G | not provided [RCV000928751] | likely benign | 16 | 89544640 | 89544640 | Human | | name |
| 21075491 | CV797460 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4A>T | not provided [RCV000996408] | uncertain significance | 16 | 89532640 | 89532640 | Human | | name |
| 21074863 | CV798709 | single nucleotide variant | NM_003119.4(SPG7):c.1552+1G>T | Hereditary spastic paraplegia 7 [RCV000995648]|Hereditary spastic paraplegia [RCV001847130]|not provided [RCV001091056] | pathogenic|likely pathogenic | 16 | 89546761 | 89546761 | Human | 2 | name |
| 127234273 | CV977148 | duplication | NM_003119.4(SPG7):c.1552+2dup | Hereditary spastic paraplegia 7 [RCV001391523]|not provided [RCV001664793] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89546761 | 89546762 | Human | 1 | name |
| 150406860 | CV1178089 | single nucleotide variant | NM_003119.4(SPG7):c.988-115G>A | not provided [RCV001545396] | likely benign | 16 | 89531789 | 89531789 | Human | | name |
| 150422740 | CV1181451 | single nucleotide variant | NM_003119.4(SPG7):c.377-298G>A | not provided [RCV001553048] | likely benign | 16 | 89523708 | 89523708 | Human | | name |
| 150417783 | CV1181454 | single nucleotide variant | NM_003119.4(SPG7):c.1552+50G>A | not provided [RCV001550298] | likely benign | 16 | 89546810 | 89546810 | Human | | name |
| 150424158 | CV1185185 | single nucleotide variant | NM_003119.4(SPG7):c.619-233C>T | not provided [RCV001556294] | likely benign | 16 | 89526096 | 89526096 | Human | | name |
| 150424323 | CV1185186 | single nucleotide variant | NM_003119.4(SPG7):c.619-228C>T | not provided [RCV001556512] | likely benign | 16 | 89526101 | 89526101 | Human | | name |
| 150424527 | CV1185191 | single nucleotide variant | NM_003119.4(SPG7):c.2103+95G>T | not provided [RCV001556784] | likely benign | 16 | 89554055 | 89554055 | Human | | name |
| 150428290 | CV1188452 | single nucleotide variant | NM_003119.4(SPG7):c.286+148C>A | not provided [RCV001562069] | likely benign | 16 | 89510740 | 89510740 | Human | | name |
| 150429025 | CV1188454 | single nucleotide variant | NM_003119.4(SPG7):c.759-333G>A | not provided [RCV001563051] | likely benign | 16 | 89529144 | 89529144 | Human | | name |
| 150406797 | CV1191883 | single nucleotide variant | NM_003119.4(SPG7):c.184-300G>C | not provided [RCV001564798] | likely benign | 16 | 89510190 | 89510190 | Human | | name |
| 150413215 | CV1191884 | single nucleotide variant | NM_003119.4(SPG7):c.861+321T>C | not provided [RCV001567133] | likely benign | 16 | 89529900 | 89529900 | Human | | name |
| 150413207 | CV1191885 | single nucleotide variant | NM_003119.4(SPG7):c.987+151T>C | not provided [RCV001567131] | likely benign | 16 | 89530959 | 89530959 | Human | | name |
| 150415515 | CV1191886 | single nucleotide variant | NM_003119.4(SPG7):c.1449+55C>G | not provided [RCV001568018] | likely benign | 16 | 89544827 | 89544827 | Human | | name |
| 150414135 | CV1191887 | single nucleotide variant | NM_003119.4(SPG7):c.1449+84C>T | not provided [RCV001567417] | likely benign | 16 | 89544856 | 89544856 | Human | | name |
| 150415477 | CV1191889 | single nucleotide variant | NM_003119.4(SPG7):c.1779+69G>A | not provided [RCV001568002] | likely benign | 16 | 89550678 | 89550678 | Human | | name |
| 150418313 | CV1198856 | single nucleotide variant | NM_003119.4(SPG7):c.1780-94C>T | not provided [RCV001576688] | likely benign | 16 | 89552885 | 89552885 | Human | | name |
| 150459130 | CV1202878 | single nucleotide variant | NM_003119.4(SPG7):c.1937-44G>A | not provided [RCV001586531] | likely benign | 16 | 89553750 | 89553750 | Human | | name |
| 150434477 | CV1204358 | single nucleotide variant | NM_003119.4(SPG7):c.286+218G>A | not provided [RCV001582107] | likely benign | 16 | 89510810 | 89510810 | Human | | name |
| 150495643 | CV1205058 | single nucleotide variant | NM_003119.4(SPG7):c.988-235T>G | not provided [RCV001593550] | likely benign | 16 | 89531669 | 89531669 | Human | | name |
| 150480122 | CV1207955 | single nucleotide variant | NM_003119.4(SPG7):c.1450-75C>A | not provided [RCV001590232] | likely benign | 16 | 89546583 | 89546583 | Human | | name |
| 150472032 | CV1209663 | single nucleotide variant | NM_003119.4(SPG7):c.861+313T>C | not provided [RCV001588774] | likely benign | 16 | 89529892 | 89529892 | Human | | name |
| 150482805 | CV1210028 | single nucleotide variant | NM_003119.4(SPG7):c.988-110C>T | not provided [RCV001590726] | likely benign | 16 | 89531794 | 89531794 | Human | | name |
| 150475115 | CV1217901 | single nucleotide variant | NM_003119.4(SPG7):c.1450-29G>A | Hereditary spastic paraplegia 7 [RCV001810124]|not provided [RCV001615912] | benign | 16 | 89546629 | 89546629 | Human | 1 | name |
| 150481309 | CV1222139 | single nucleotide variant | NM_003119.4(SPG7):c.861+119C>T | not provided [RCV001616937] | benign | 16 | 89529698 | 89529698 | Human | | name |
| 150514098 | CV1228053 | single nucleotide variant | NM_003119.4(SPG7):c.1937-54A>G | not provided [RCV001638331] | benign | 16 | 89553740 | 89553740 | Human | | name |
| 150507870 | CV1229196 | single nucleotide variant | NM_003119.4(SPG7):c.619-115C>T | not provided [RCV001636067] | benign | 16 | 89526214 | 89526214 | Human | | name |
| 150433075 | CV1230384 | single nucleotide variant | NM_003119.4(SPG7):c.1450-78C>T | not provided [RCV001643329] | benign | 16 | 89546580 | 89546580 | Human | | name |
| 150461397 | CV1231471 | duplication | NM_003119.4(SPG7):c.1450-75dup | not provided [RCV001641038] | benign | 16 | 89546571 | 89546572 | Human | | name |
| 150497915 | CV1236439 | single nucleotide variant | NM_003119.4(SPG7):c.987+290C>A | not provided [RCV001656164] | benign | 16 | 89531098 | 89531098 | Human | | name |
| 150484216 | CV1247091 | single nucleotide variant | NM_003119.4(SPG7):c.759-126C>T | not provided [RCV001673587] | benign | 16 | 89529351 | 89529351 | Human | | name |
| 150475989 | CV1251796 | single nucleotide variant | NM_003119.4(SPG7):c.1779+47G>C | Hereditary spastic paraplegia 7 [RCV001810216]|not provided [RCV001671994] | benign | 16 | 89550656 | 89550656 | Human | 1 | name |
| 150504966 | CV1255350 | deletion | NM_003119.4(SPG7):c.1450-75del | not provided [RCV001677797] | benign | 16 | 89546572 | 89546572 | Human | | name |
| 150460212 | CV1268462 | single nucleotide variant | NM_003119.4(SPG7):c.618+170C>T | not provided [RCV001693459] | benign | 16 | 89524417 | 89524417 | Human | | name |
| 150478316 | CV1281914 | single nucleotide variant | NM_003119.4(SPG7):c.1552+65A>C | not provided [RCV001714275] | benign | 16 | 89546825 | 89546825 | Human | | name |
| 150493395 | CV1281915 | single nucleotide variant | NM_003119.4(SPG7):c.184-132T>C | not provided [RCV001717001] | benign | 16 | 89510358 | 89510358 | Human | | name |
| 151848662 | CV1402703 | single nucleotide variant | NM_003119.4(SPG7):c.1663+11C>T | Hereditary spastic paraplegia 7 [RCV001882307] | likely benign|uncertain significance | 16 | 89548124 | 89548124 | Human | 1 | name |
| 8692978 | CV142943 | single nucleotide variant | NM_003119.4(SPG7):c.1324+10C>T | Hereditary spastic paraplegia 7 [RCV001085222]|Hereditary spastic paraplegia [RCV001847761]|not provided [RCV000713480]|not specified [RCV000128201] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89532646 | 89532646 | Human | 2 | name |
| 8692980 | CV142945 | single nucleotide variant | NM_003119.4(SPG7):c.1663+13C>T | Hereditary spastic paraplegia 7 [RCV000272278]|not provided [RCV004709338]|not specified [RCV000128203] | benign|likely benign | 16 | 89548126 | 89548126 | Human | 1 | name |
| 8692981 | CV142946 | single nucleotide variant | NM_003119.4(SPG7):c.1664-15C>A | Hereditary spastic paraplegia 7 [RCV001121646]|not provided [RCV004709339]|not specified [RCV000128204] | benign|likely benign | 16 | 89550479 | 89550479 | Human | 1 | name |
| 8692982 | CV142947 | single nucleotide variant | NM_003119.4(SPG7):c.1664-11C>A | Hereditary spastic paraplegia 7 [RCV001121647]|not specified [RCV000128205] | benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89550483 | 89550483 | Human | 1 | name |
| 8692984 | CV142949 | single nucleotide variant | NM_003119.4(SPG7):c.1936+12C>T | Hereditary spastic paraplegia 7 [RCV000335399]|not specified [RCV000128207] | benign|likely benign|uncertain significance | 16 | 89553147 | 89553147 | Human | 1 | name |
| 8692985 | CV142950 | single nucleotide variant | NM_003119.4(SPG7):c.1937-16C>G | Hereditary spastic paraplegia 7 [RCV001522690]|not provided [RCV004703416]|not specified [RCV000128208] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 89553778 | 89553778 | Human | 1 | name |
| 152032989 | CV1544693 | single nucleotide variant | NM_003119.4(SPG7):c.2181+19G>A | Hereditary spastic paraplegia 7 [RCV002115764]|not provided [RCV002223340] | benign|uncertain significance | 16 | 89554582 | 89554582 | Human | 1 | name |
| 152107246 | CV1577838 | single nucleotide variant | NM_003119.4(SPG7):c.2182-19C>T | Hereditary spastic paraplegia 7 [RCV002096342] | likely benign | 16 | 89556868 | 89556868 | Human | 1 | name |
| 152092887 | CV1593233 | single nucleotide variant | NM_003119.4(SPG7):c.1324+18C>T | Hereditary spastic paraplegia 7 [RCV002094433] | likely benign | 16 | 89532654 | 89532654 | Human | 1 | name |
| 152172592 | CV1599189 | single nucleotide variant | NM_003119.4(SPG7):c.1936+15C>T | Hereditary spastic paraplegia 7 [RCV002143829] | likely benign | 16 | 89553150 | 89553150 | Human | 1 | name |
| 152042602 | CV1618078 | single nucleotide variant | NM_003119.4(SPG7):c.1664-13G>A | Hereditary spastic paraplegia 7 [RCV002206544] | likely benign | 16 | 89550481 | 89550481 | Human | 1 | name |
| 152030429 | CV1632154 | single nucleotide variant | NM_003119.4(SPG7):c.1936+18G>A | Hereditary spastic paraplegia 7 [RCV002124324] | likely benign | 16 | 89553153 | 89553153 | Human | 1 | name |
| 152163215 | CV1635864 | single nucleotide variant | NM_003119.4(SPG7):c.1553-20G>A | Hereditary spastic paraplegia 7 [RCV002203791] | likely benign | 16 | 89547983 | 89547983 | Human | 1 | name |
| 156047946 | CV1887601 | single nucleotide variant | NM_003119.4(SPG7):c.2104-12C>G | Hereditary spastic paraplegia 7 [RCV003078765] | likely benign | 16 | 89554474 | 89554474 | Human | 1 | name |
| 156036473 | CV1890210 | single nucleotide variant | NM_003119.4(SPG7):c.1937-10C>T | Hereditary spastic paraplegia 7 [RCV003078336] | likely benign | 16 | 89553784 | 89553784 | Human | 1 | name |
| 156347401 | CV1958278 | single nucleotide variant | NM_003119.4(SPG7):c.1324+19C>T | Hereditary spastic paraplegia 7 [RCV002580831] | likely benign | 16 | 89532655 | 89532655 | Human | 1 | name |
| 156393090 | CV1965108 | single nucleotide variant | NM_003119.4(SPG7):c.1151-14C>G | Hereditary spastic paraplegia 7 [RCV002584063] | likely benign | 16 | 89532449 | 89532449 | Human | 1 | name |
| 156381479 | CV1978782 | single nucleotide variant | NM_003119.4(SPG7):c.1151-16C>G | Hereditary spastic paraplegia 7 [RCV002603995] | likely benign | 16 | 89532447 | 89532447 | Human | 1 | name |
| 156167598 | CV1993429 | single nucleotide variant | NM_003119.4(SPG7):c.1450-17T>C | Hereditary spastic paraplegia 7 [RCV002642625]|not provided [RCV004706438] | likely benign | 16 | 89546641 | 89546641 | Human | 1 | name |
| 156231257 | CV2019760 | single nucleotide variant | NM_003119.4(SPG7):c.1150+13G>C | Hereditary spastic paraplegia 7 [RCV002701368] | likely benign | 16 | 89532079 | 89532079 | Human | 1 | name |
| 155944863 | CV2039534 | single nucleotide variant | NM_003119.4(SPG7):c.1937-16C>T | Hereditary spastic paraplegia 7 [RCV002775419] | likely benign | 16 | 89553778 | 89553778 | Human | 1 | name |
| 156275399 | CV2046367 | single nucleotide variant | NM_003119.4(SPG7):c.1552+15C>T | Hereditary spastic paraplegia 7 [RCV002770197] | likely benign | 16 | 89546775 | 89546775 | Human | 1 | name |
| 156031141 | CV2117452 | single nucleotide variant | NM_003119.4(SPG7):c.1936+16G>A | Hereditary spastic paraplegia 7 [RCV002923519] | likely benign | 16 | 89553151 | 89553151 | Human | 1 | name |
| 10410687 | CV211762 | single nucleotide variant | NM_003119.4(SPG7):c.1663+14G>A | Hereditary spastic paraplegia 7 [RCV003617802]|not specified [RCV000198673] | benign|likely benign | 16 | 89548127 | 89548127 | Human | 1 | name |
| 10411256 | CV211766 | single nucleotide variant | NM_003119.4(SPG7):c.1779+20G>A | Hereditary spastic paraplegia 7 [RCV002054344]|not specified [RCV000199895] | benign | 16 | 89550629 | 89550629 | Human | 1 | name |
| 156034804 | CV2182427 | single nucleotide variant | NM_003119.4(SPG7):c.1937-11C>T | Hereditary spastic paraplegia 7 [RCV003036334] | likely benign | 16 | 89553783 | 89553783 | Human | 1 | name |
| 401918467 | CV2523107 | single nucleotide variant | NM_003119.4(SPG7):c.286+853A>G | Hereditary spastic paraplegia 7 [RCV003388210] | pathogenic | 16 | 89511445 | 89511445 | Human | 1 | name |
| 11545345 | CV255961 | single nucleotide variant | NM_003119.4(SPG7):c.1449+19G>A | Hereditary spastic paraplegia 7 [RCV001510312]|not provided [RCV001707589]|not specified [RCV000245007] | benign | 16 | 89544791 | 89544791 | Human | 1 | name |
| 11548951 | CV255962 | single nucleotide variant | NM_003119.4(SPG7):c.1450-16C>T | not specified [RCV000249768] | likely benign | 16 | 89546642 | 89546642 | Human | | name |
| 402500496 | CV2886328 | single nucleotide variant | NM_003119.4(SPG7):c.1779+10G>A | Hereditary spastic paraplegia 7 [RCV003508664] | likely benign | 16 | 89550619 | 89550619 | Human | 1 | name |
| 402503304 | CV2906384 | single nucleotide variant | NM_003119.4(SPG7):c.1663+12G>A | Hereditary spastic paraplegia 7 [RCV003508977] | likely benign | 16 | 89548125 | 89548125 | Human | 1 | name |
| 402486451 | CV2913354 | single nucleotide variant | NM_003119.4(SPG7):c.1664-17C>T | Hereditary spastic paraplegia 7 [RCV003507034] | likely benign | 16 | 89550477 | 89550477 | Human | 1 | name |
| 402487439 | CV2917392 | single nucleotide variant | NM_003119.4(SPG7):c.1779+12C>A | Hereditary spastic paraplegia 7 [RCV003507146] | likely benign | 16 | 89550621 | 89550621 | Human | 1 | name |
| 405130821 | CV2961554 | single nucleotide variant | NM_003119.4(SPG7):c.1324+20G>A | Hereditary spastic paraplegia 7 [RCV003618261] | likely benign | 16 | 89532656 | 89532656 | Human | 1 | name |
| 405125744 | CV3023485 | single nucleotide variant | NM_003119.4(SPG7):c.1936+17C>T | Hereditary spastic paraplegia 7 [RCV003617621] | likely benign | 16 | 89553152 | 89553152 | Human | 1 | name |
| 405138531 | CV3071367 | single nucleotide variant | NM_003119.4(SPG7):c.1324+11G>A | Hereditary spastic paraplegia 7 [RCV003619068] | likely benign | 16 | 89532647 | 89532647 | Human | 1 | name |
| 405253589 | CV3178564 | single nucleotide variant | NM_003119.4(SPG7):c.1324+15G>A | Hereditary spastic paraplegia 7 [RCV003871165] | likely benign | 16 | 89532651 | 89532651 | Human | 1 | name |
| 597853184 | CV3737719 | single nucleotide variant | NM_003119.4(SPG7):c.1151-18C>T | Hereditary spastic paraplegia 7 [RCV005066492] | likely benign | 16 | 89532445 | 89532445 | Human | 1 | name |
| 12833264 | CV374767 | single nucleotide variant | NM_003119.4(SPG7):c.2182-18T>C | Hereditary spastic paraplegia 7 [RCV002059935]|not specified [RCV000418184] | likely benign | 16 | 89556869 | 89556869 | Human | 1 | name |
| 597870631 | CV3835114 | single nucleotide variant | NM_003119.4(SPG7):c.1664-14C>T | Hereditary spastic paraplegia 7 [RCV005176290] | likely benign | 16 | 89550480 | 89550480 | Human | 1 | name |
| 13537479 | CV505865 | single nucleotide variant | NM_003119.4(SPG7):c.1937-15G>A | Hereditary spastic paraplegia 7 [RCV002528585]|not specified [RCV000610460] | likely benign | 16 | 89553779 | 89553779 | Human | 1 | name |
| 13535846 | CV506641 | single nucleotide variant | NM_003119.4(SPG7):c.1552+16G>T | Hereditary spastic paraplegia 7 [RCV002528742]|not specified [RCV000608139] | likely benign | 16 | 89546776 | 89546776 | Human | 1 | name |
| 13540065 | CV506646 | single nucleotide variant | NM_003119.4(SPG7):c.1936+13G>A | Hereditary spastic paraplegia 7 [RCV002066746]|SPG7-related disorder [RCV003905652]|not specified [RCV000614175] | likely benign | 16 | 89553148 | 89553148 | Human | 1 | name , alternate_id |
| 14715048 | CV667657 | single nucleotide variant | NM_003119.4(SPG7):c.184-235G>A | not provided [RCV000829251] | benign | 16 | 89510255 | 89510255 | Human | | name |
| 14739158 | CV667661 | single nucleotide variant | NM_003119.4(SPG7):c.987+216A>G | not provided [RCV000839745] | likely benign | 16 | 89531024 | 89531024 | Human | | name |
| 14733580 | CV668543 | single nucleotide variant | NM_003119.4(SPG7):c.376+140C>T | not provided [RCV000837159] | likely benign | 16 | 89513177 | 89513177 | Human | | name |
| 14715068 | CV668549 | single nucleotide variant | NM_003119.4(SPG7):c.377-171G>A | not provided [RCV000829257] | benign | 16 | 89523835 | 89523835 | Human | | name |
| 14736807 | CV668550 | single nucleotide variant | NM_003119.4(SPG7):c.861+196C>T | not provided [RCV000838652] | likely benign | 16 | 89529775 | 89529775 | Human | | name |
| 14713199 | CV668688 | single nucleotide variant | NM_003119.4(SPG7):c.287-280A>G | not provided [RCV000828649] | benign | 16 | 89512668 | 89512668 | Human | | name |
| 14715066 | CV668692 | single nucleotide variant | NM_003119.4(SPG7):c.287-233G>A | not provided [RCV000829256] | benign | 16 | 89512715 | 89512715 | Human | | name |
| 14733579 | CV668695 | single nucleotide variant | NM_003119.4(SPG7):c.376+105G>T | not provided [RCV000837158] | likely benign | 16 | 89513142 | 89513142 | Human | | name |
| 14723212 | CV668703 | single nucleotide variant | NM_003119.4(SPG7):c.758+294C>T | not provided [RCV000832431] | likely benign | 16 | 89526762 | 89526762 | Human | | name |
| 14723426 | CV668707 | single nucleotide variant | NM_003119.4(SPG7):c.758+316A>G | not provided [RCV000832529] | likely benign | 16 | 89526784 | 89526784 | Human | | name |
| 14718207 | CV668714 | single nucleotide variant | NM_003119.4(SPG7):c.758+322C>T | not provided [RCV000830318] | benign | 16 | 89526790 | 89526790 | Human | | name |
| 14715072 | CV668716 | single nucleotide variant | NM_003119.4(SPG7):c.759-162G>A | not provided [RCV000829258] | benign | 16 | 89529315 | 89529315 | Human | | name |
| 14729650 | CV669002 | deletion | NM_003119.4(SPG7):c.2104-24del | not provided [RCV000835319] | likely benign | 16 | 89554462 | 89554462 | Human | | name |
| 38461472 | CV920366 | single nucleotide variant | NM_003119.4(SPG7):c.1150+17G>A | Hereditary spastic paraplegia 7 [RCV001197666] | uncertain significance | 16 | 89532083 | 89532083 | Human | 1 | name |
| 126730504 | CV1000980 | single nucleotide variant | NM_003119.4(SPG7):c.2182-795C>G | not provided [RCV001310352] | likely benign|uncertain significance | 16 | 89556092 | 89556092 | Human | | name |
| 127318982 | CV1157896 | single nucleotide variant | NM_003119.4(SPG7):c.376+4364C>T | Hereditary spastic paraplegia 7 [RCV001521895] | benign | 16 | 89517401 | 89517401 | Human | 1 | name |
| 150331870 | CV1169706 | single nucleotide variant | NM_003119.4(SPG7):c.1325-302G>A | not provided [RCV001536661] | likely benign | 16 | 89544346 | 89544346 | Human | | name |
| 150336604 | CV1172926 | single nucleotide variant | NM_003119.4(SPG7):c.1779+238A>G | not provided [RCV001541063] | benign | 16 | 89550847 | 89550847 | Human | | name |
| 150410284 | CV1178092 | single nucleotide variant | NM_003119.4(SPG7):c.2104-231C>T | not provided [RCV001546561] | likely benign | 16 | 89554255 | 89554255 | Human | | name |
| 150413855 | CV1178093 | single nucleotide variant | NM_003119.4(SPG7):c.2182-283G>A | not provided [RCV001547925] | likely benign | 16 | 89556604 | 89556604 | Human | | name |
| 150420811 | CV1181455 | single nucleotide variant | NM_003119.4(SPG7):c.1552+103C>T | not provided [RCV001551724] | likely benign | 16 | 89546863 | 89546863 | Human | | name |
| 150418404 | CV1181457 | single nucleotide variant | NM_003119.4(SPG7):c.2181+255C>G | not provided [RCV001550587] | likely benign | 16 | 89554818 | 89554818 | Human | | name |
| 150425115 | CV1185189 | single nucleotide variant | NM_003119.4(SPG7):c.1663+112C>T | not provided [RCV001557581] | likely benign | 16 | 89548225 | 89548225 | Human | | name |
| 150425803 | CV1185190 | single nucleotide variant | NM_003119.4(SPG7):c.1780-259T>G | not provided [RCV001558496] | likely benign | 16 | 89552720 | 89552720 | Human | | name |
| 150428941 | CV1188455 | single nucleotide variant | NM_003119.4(SPG7):c.1324+185C>T | not provided [RCV001562927] | likely benign | 16 | 89532821 | 89532821 | Human | | name |
| 150411612 | CV1191888 | single nucleotide variant | NM_003119.4(SPG7):c.1553-131C>G | not provided [RCV001566650] | likely benign | 16 | 89547872 | 89547872 | Human | | name |
| 150421597 | CV1195135 | single nucleotide variant | NM_003119.4(SPG7):c.1324+222C>T | not provided [RCV001570611] | likely benign | 16 | 89532858 | 89532858 | Human | | name |
| 150438398 | CV1201397 | single nucleotide variant | NM_003119.4(SPG7):c.1324+302C>T | not provided [RCV001583209] | likely benign | 16 | 89532938 | 89532938 | Human | | name |
| 150469023 | CV1207503 | single nucleotide variant | NM_003119.4(SPG7):c.1324+272A>G | not provided [RCV001588192] | likely benign | 16 | 89532908 | 89532908 | Human | | name |
| 150499787 | CV1209142 | single nucleotide variant | NM_003119.4(SPG7):c.2181+235C>G | not provided [RCV001594360] | likely benign | 16 | 89554798 | 89554798 | Human | | name |
| 150483374 | CV1210122 | single nucleotide variant | NM_003119.4(SPG7):c.2181+118A>G | not provided [RCV001590821] | likely benign | 16 | 89554681 | 89554681 | Human | | name |
| 150510318 | CV1211560 | single nucleotide variant | NM_003119.4(SPG7):c.1151-111A>G | not provided [RCV001597352] | benign | 16 | 89532352 | 89532352 | Human | | name |
| 150450846 | CV1232726 | single nucleotide variant | NM_003119.4(SPG7):c.1664-130G>T | not provided [RCV001647801] | benign | 16 | 89550364 | 89550364 | Human | | name |
| 150464579 | CV1241325 | single nucleotide variant | NM_003119.4(SPG7):c.1664-112G>A | not provided [RCV001649836] | benign | 16 | 89550382 | 89550382 | Human | | name |
| 150440478 | CV1287188 | duplication | NM_003119.4(SPG7):c.1324+148dup | not provided [RCV001725103] | benign | 16 | 89532772 | 89532773 | Human | | name |
| 155943532 | CV2130048 | microsatellite | NM_003119.4(SPG7):c.759-18CT[2] | Hereditary spastic paraplegia 7 [RCV002971445] | likely benign | 16 | 89529459 | 89529460 | Human | | name |
| 401913813 | CV2814590 | single nucleotide variant | NM_003119.4(SPG7):c.2182-881A>G | not provided [RCV003428006] | likely benign|conflicting interpretations of pathogenicity | 16 | 89556006 | 89556006 | Human | | name |
| 401903606 | CV2814591 | single nucleotide variant | NM_003119.4(SPG7):c.2182-869G>C | not provided [RCV003419526] | likely benign | 16 | 89556018 | 89556018 | Human | | name |
| 401903608 | CV2814592 | single nucleotide variant | NM_003119.4(SPG7):c.2182-831G>A | not provided [RCV003419527] | uncertain significance | 16 | 89556056 | 89556056 | Human | | name |
| 14715074 | CV667663 | single nucleotide variant | NM_003119.4(SPG7):c.1324+197C>T | not provided [RCV000829259] | benign | 16 | 89532833 | 89532833 | Human | | name |
| 14733671 | CV667688 | single nucleotide variant | NM_003119.4(SPG7):c.1936+154G>T | not provided [RCV000837201] | benign | 16 | 89553289 | 89553289 | Human | | name |
| 14714522 | CV668551 | single nucleotide variant | NM_003119.4(SPG7):c.1324+308G>T | not provided [RCV000829066] | benign | 16 | 89532944 | 89532944 | Human | | name |
| 14715080 | CV668563 | single nucleotide variant | NM_003119.4(SPG7):c.1552+205G>A | not provided [RCV000829261] | benign | 16 | 89546965 | 89546965 | Human | | name |
| 14739163 | CV668564 | single nucleotide variant | NM_003119.4(SPG7):c.1552+231C>T | not provided [RCV000839747] | benign | 16 | 89546991 | 89546991 | Human | | name |
| 14705649 | CV668565 | single nucleotide variant | NM_003119.4(SPG7):c.1664-344T>C | not provided [RCV000826261] | benign | 16 | 89550150 | 89550150 | Human | | name |
| 14719701 | CV668722 | single nucleotide variant | NM_003119.4(SPG7):c.1664-177C>T | not provided [RCV000830898] | benign | 16 | 89550317 | 89550317 | Human | | name |
| 14739161 | CV668997 | single nucleotide variant | NM_003119.4(SPG7):c.1449+174C>T | not provided [RCV000839746] | benign | 16 | 89544946 | 89544946 | Human | | name |
| 14715084 | CV669000 | single nucleotide variant | NM_003119.4(SPG7):c.1552+244T>C | not provided [RCV000829262] | benign | 16 | 89547004 | 89547004 | Human | | name |
| 126740494 | CV1021571 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4273G>T | Hereditary spastic paraplegia 7 [RCV001336012] | uncertain significance | 16 | 89536909 | 89536909 | Human | 1 | name |
| 150408961 | CV1178090 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3878T>C | not provided [RCV001546086] | likely benign | 16 | 89536514 | 89536514 | Human | | name |
| 150405167 | CV1178091 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4086A>G | not provided [RCV001544738] | likely benign | 16 | 89536722 | 89536722 | Human | | name |
| 150421998 | CV1181452 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3861A>G | not provided [RCV001552270] | likely benign | 16 | 89536497 | 89536497 | Human | | name |
| 150415963 | CV1181453 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3864T>C | not provided [RCV001549383] | likely benign | 16 | 89536500 | 89536500 | Human | | name |
| 150424082 | CV1185188 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3869T>C | not provided [RCV001556187] | likely benign | 16 | 89536505 | 89536505 | Human | | name |
| 150426313 | CV1188456 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4312G>T | not provided [RCV001559412] | likely benign | 16 | 89536948 | 89536948 | Human | | name |
| 150480586 | CV1208046 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3883T>C | not provided [RCV001590323] | likely benign | 16 | 89536519 | 89536519 | Human | | name |
| 150516507 | CV1227098 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4020A>G | not provided [RCV001639196] | benign | 16 | 89536656 | 89536656 | Human | | name |
| 150475004 | CV1252945 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4109C>A | not provided [RCV001671853] | benign | 16 | 89536745 | 89536745 | Human | | name |
| 150463570 | CV1253822 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4109C>T | not provided [RCV001669864] | benign | 16 | 89536745 | 89536745 | Human | | name |
| 150442646 | CV1266264 | duplication | NM_003119.4(SPG7):c.1324+3841dup | not provided [RCV001690700] | benign | 16 | 89536476 | 89536477 | Human | | name |
| 150444291 | CV1288000 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3941G>C | not provided [RCV001725722] | benign | 16 | 89536577 | 89536577 | Human | | name |
| 10411155 | CV211758 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4173C>T | Inborn genetic diseases [RCV002515436]|not specified [RCV000199673] | benign|likely benign | 16 | 89536809 | 89536809 | Human | 1 | name |
| 11347657 | CV242530 | deletion | NM_003119.4(SPG7):c.976_987+3del | Hereditary spastic paraplegia 7 [RCV000232876]|not provided [RCV000516566] | pathogenic|likely pathogenic | 16 | 89530794 | 89530808 | Human | 1 | name |
| 329952913 | CV2669622 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4143C>T | SPG7-related disorder [RCV003396966]|not provided [RCV003234245] | uncertain significance | 16 | 89536779 | 89536779 | Human | 1 | name , alternate_id |
| 405261732 | CV3186239 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4321A>G | not provided [RCV003885315] | likely benign | 16 | 89536957 | 89536957 | Human | | name |
| 405292349 | CV3192384 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4224C>T | SPG7-related disorder [RCV003929655] | likely benign | 16 | 89536860 | 89536860 | Human | | name , trait , alternate_id |
| 405290217 | CV3214180 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4208G>A | SPG7-related disorder [RCV003927012] | likely benign | 16 | 89536844 | 89536844 | Human | | name , trait , alternate_id |
| 408386153 | CV3496749 | deletion | NM_003119.4(SPG7):c.1450_1459del | Hereditary spastic paraplegia 7 [RCV004767702] | likely pathogenic | 16 | 89546657 | 89546666 | Human | 1 | name |
| 12844952 | CV375650 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4187C>T | not provided [RCV001726164]|not specified [RCV000438929] | likely benign | 16 | 89536823 | 89536823 | Human | | name |
| 598178317 | CV4008424 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4222C>T | Hereditary spastic paraplegia 7 [RCV005393943] | uncertain significance | 16 | 89536858 | 89536858 | Human | 1 | name |
| 14719482 | CV667667 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3852A>G | not provided [RCV000830797] | benign | 16 | 89536488 | 89536488 | Human | | name |
| 14746288 | CV668556 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3845T>C | not provided [RCV000844279] | likely benign | 16 | 89536481 | 89536481 | Human | | name |
| 14719151 | CV668560 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3865G>C | not provided [RCV000830646] | likely benign | 16 | 89536501 | 89536501 | Human | | name |
| 14718085 | CV668718 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3850T>C | not provided [RCV000830280] | benign | 16 | 89536486 | 89536486 | Human | | name |
| 14746290 | CV668720 | single nucleotide variant | NM_003119.4(SPG7):c.1324+4542A>G | not provided [RCV000844281] | benign | 16 | 89537178 | 89537178 | Human | | name |
| 14719142 | CV668980 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3855T>C | not provided [RCV000830642] | likely benign | 16 | 89536491 | 89536491 | Human | | name |
| 14723462 | CV668989 | deletion | NM_003119.4(SPG7):c.1324+3861del | not provided [RCV000832544] | likely benign | 16 | 89536497 | 89536497 | Human | | name |
| 14715077 | CV668993 | single nucleotide variant | NM_003119.4(SPG7):c.1324+3884C>G | not provided [RCV000829260] | likely benign | 16 | 89536520 | 89536520 | Human | | name |
| 151753752 | CV1335833 | deletion | NM_003119.4(SPG7):c.184-5_184-4del | Hereditary spastic paraplegia [RCV001848233] | likely benign | 16 | 89510472 | 89510473 | Human | 1 | name |
| 8692990 | CV142955 | single nucleotide variant | NM_003119.4(SPG7):c.9G>T (p.Val3=) | Hereditary spastic paraplegia 7 [RCV000552044]|Hereditary spastic paraplegia [RCV001847768]|not provided [RCV001529839]|not specified [RCV000128213] | benign|likely benign|uncertain significance | 16 | 89508426 | 89508426 | Human | 2 | name |
| 408394771 | CV3395402 | deletion | NM_003119.4(SPG7):c.183+1_184-1del | Hereditary spastic paraplegia 7 [RCV004765034] | pathogenic | 16 | 89508598 | 89510486 | Human | 1 | name |
| 596945334 | CV3401469 | deletion | NM_003119.4(SPG7):c.988-42_1046del | Hereditary spastic paraplegia 7 [RCV004818490] | likely pathogenic | 16 | 89531859 | 89531959 | Human | 1 | name |
| 12895710 | CV402131 | deletion | NM_003119.4(SPG7):c.1450-1_1457del | Distal spinal muscular atrophy [RCV000664257]|Dysarthria [RCV000626835]|Hereditary spastic paraplegia 7 [RCV000475192]|Hereditary spastic paraplegia [RCV000516115]|Inborn genetic diseases [RCV000622361]|Seizure [RCV000626836]|not provided [RCV000479409] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89546657 | 89546665 | Human | 13 | name |
| 15139011 | CV688678 | single nucleotide variant | NM_003119.4(SPG7):c.9G>A (p.Val3=) | not provided [RCV000864933] | likely benign | 16 | 89508426 | 89508426 | Human | | name |
| 156041127 | CV1918524 | single nucleotide variant | NM_003119.4(SPG7):c.19C>T (p.Leu7=) | Hereditary spastic paraplegia 7 [RCV002620259] | likely benign | 16 | 89508436 | 89508436 | Human | 1 | name |
| 405136011 | CV3045152 | single nucleotide variant | NM_003119.4(SPG7):c.16C>T (p.Leu6=) | Hereditary spastic paraplegia 7 [RCV003618826] | likely benign | 16 | 89508433 | 89508433 | Human | 1 | name |
| 13541404 | CV505667 | single nucleotide variant | NM_003119.4(SPG7):c.21G>A (p.Leu7=) | not specified [RCV000616114] | likely benign | 16 | 89508438 | 89508438 | Human | | name |
| 21075486 | CV797455 | single nucleotide variant | NM_003119.4(SPG7):c.13C>T (p.Leu5=) | not provided [RCV000996400] | likely benign | 16 | 89508430 | 89508430 | Human | | name |
| 127234048 | CV977139 | microsatellite | NM_003119.4(SPG7):c.759-11_759-8del | Hereditary spastic paraplegia 7 [RCV001391425]|not specified [RCV004782692] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89529462 | 89529465 | Human | | name |
| 127236198 | CV1063801 | single nucleotide variant | NM_003119.4(SPG7):c.2T>A (p.Met1Lys) | Hereditary spastic paraplegia 7 [RCV001382565] | pathogenic|likely pathogenic|uncertain significance | 16 | 89508419 | 89508419 | Human | 1 | name |
| 152159239 | CV1544362 | microsatellite | NM_003119.4(SPG7):c.1553-8_1553-7del | Hereditary spastic paraplegia 7 [RCV002122898]|not provided [RCV002508340] | benign|likely benign | 16 | 89547992 | 89547993 | Human | | name |
| 152164308 | CV1557563 | deletion | NM_003119.4(SPG7):c.759-12_759-11del | Hereditary spastic paraplegia 7 [RCV002141494] | likely benign | 16 | 89529464 | 89529465 | Human | 1 | name |
| 156409607 | CV1881406 | deletion | NM_003119.4(SPG7):c.618+14_618+36del | Hereditary spastic paraplegia 7 [RCV003071741] | uncertain significance | 16 | 89524243 | 89524265 | Human | 1 | name |
| 10047532 | CV190417 | single nucleotide variant | NM_003119.4(SPG7):c.1A>G (p.Met1Val) | Hereditary spastic paraplegia 7 [RCV001852108]|SPG7-related disorder [RCV003416067]|not provided [RCV000173302] | pathogenic|likely pathogenic | 16 | 89508418 | 89508418 | Human | 1 | name , alternate_id |
| 156139012 | CV1973514 | deletion | NM_003119.4(SPG7):c.376+16_376+18del | Hereditary spastic paraplegia 7 [RCV002593763] | likely benign | 16 | 89513052 | 89513054 | Human | 1 | name |
| 156202013 | CV2021267 | single nucleotide variant | NM_003119.4(SPG7):c.78C>A (p.Gly26=) | Hereditary spastic paraplegia 7 [RCV002711434] | likely benign | 16 | 89508495 | 89508495 | Human | 1 | name |
| 155999520 | CV2092124 | microsatellite | NM_003119.4(SPG7):c.1449+6_1449+7del | Hereditary spastic paraplegia 7 [RCV002908558] | uncertain significance | 16 | 89544776 | 89544777 | Human | | name |
| 10410050 | CV211737 | single nucleotide variant | NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) | Hereditary spastic paraplegia 7 [RCV000817246]|Hereditary spastic paraplegia [RCV001847886]|Inborn genetic diseases [RCV002515437]|not provided [RCV001722098]|not specified [RCV005237700] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89508421 | 89508421 | Human | 3 | name |
| 156008340 | CV2127528 | single nucleotide variant | NM_003119.4(SPG7):c.30C>T (p.Ala10=) | Hereditary spastic paraplegia 7 [RCV002948124] | likely benign | 16 | 89508447 | 89508447 | Human | 1 | name |
| 10405912 | CV213227 | deletion | NM_003119.4(SPG7):c.618+11_618+68del | Hereditary spastic paraplegia 7 [RCV000199523]|not provided [RCV001722104] | likely pathogenic|benign|likely benign | 16 | 89524250 | 89524307 | Human | 1 | name |
| 11542215 | CV248513 | deletion | NM_003119.3(SPG7):c.1553-?_1779+?del | Hereditary spastic paraplegia 7 [RCV000240505] | pathogenic | | | | Human | 1 | name |
| 401918068 | CV2795175 | single nucleotide variant | NM_003119.4(SPG7):c.2T>G (p.Met1Arg) | Hereditary spastic paraplegia 7 [RCV003388959] | pathogenic | 16 | 89508419 | 89508419 | Human | 1 | name |
| 401913810 | CV2814583 | single nucleotide variant | NM_003119.4(SPG7):c.48C>T (p.Gly16=) | not provided [RCV003428004] | likely benign | 16 | 89508465 | 89508465 | Human | | name |
| 408394801 | CV3395437 | single nucleotide variant | NM_003119.4(SPG7):c.1A>C (p.Met1Leu) | Hereditary spastic paraplegia 7 [RCV004765069] | pathogenic|likely pathogenic | 16 | 89508418 | 89508418 | Human | 1 | name |
| 596945326 | CV3401464 | deletion | NM_003119.4(SPG7):c.1449+1_1779+1del | Hereditary spastic paraplegia 7 [RCV004818483] | likely pathogenic | 16 | 89544772 | 89550609 | Human | 1 | name |
| 407424677 | CV3401467 | single nucleotide variant | NM_003119.4(SPG7):c.3G>A (p.Met1Ile) | Hereditary spastic paraplegia 7 [RCV004818487]|not provided [RCV004585107] | pathogenic|likely pathogenic | 16 | 89508420 | 89508420 | Human | 1 | name |
| 596945342 | CV3401473 | single nucleotide variant | NM_003119.4(SPG7):c.1A>T (p.Met1Leu) | Hereditary spastic paraplegia 7 [RCV004818494] | likely pathogenic | 16 | 89508418 | 89508418 | Human | 1 | name |
| 408394352 | CV3521880 | single nucleotide variant | NM_003119.4(SPG7):c.2T>C (p.Met1Thr) | Hereditary spastic paraplegia 7 [RCV004764679] | likely pathogenic | 16 | 89508419 | 89508419 | Human | 1 | name |
| 597847258 | CV3736662 | single nucleotide variant | NM_003119.4(SPG7):c.5C>T (p.Ala2Val) | Hereditary spastic paraplegia 7 [RCV005065821] | uncertain significance | 16 | 89508422 | 89508422 | Human | 1 | name |
| 12894980 | CV409800 | deletion | NM_003119.4(SPG7):c.1553-2_1553-1del | Hereditary spastic paraplegia 7 [RCV001391524]|not provided [RCV000484864] | pathogenic|likely pathogenic | 16 | 89548001 | 89548002 | Human | 1 | name |
| 13541760 | CV506609 | single nucleotide variant | NM_003119.4(SPG7):c.57T>C (p.Pro19=) | not specified [RCV000616606] | likely benign | 16 | 89508474 | 89508474 | Human | | name |
| 15125964 | CV693973 | single nucleotide variant | NM_003119.4(SPG7):c.33C>T (p.Leu11=) | Hereditary spastic paraplegia 7 [RCV001411251]|not provided [RCV000875038] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89508450 | 89508450 | Human | 1 | name |
| 15102108 | CV785442 | single nucleotide variant | NM_003119.4(SPG7):c.99C>T (p.Phe33=) | Hereditary spastic paraplegia 7 [RCV001433722]|not provided [RCV003424511] | likely benign | 16 | 89508516 | 89508516 | Human | 1 | name |
| 28887189 | CV876179 | single nucleotide variant | NM_003119.4(SPG7):c.66G>C (p.Leu22=) | Hereditary spastic paraplegia 7 [RCV001119555] | uncertain significance | 16 | 89508483 | 89508483 | Human | 1 | name |
| 8692991 | CV142956 | single nucleotide variant | NM_003119.4(SPG7):c.120G>A (p.Gly40=) | Hereditary spastic paraplegia 7 [RCV000526678]|Hereditary spastic paraplegia [RCV001847769]|not provided [RCV002262748]|not specified [RCV000128214] | benign|conflicting interpretations of pathogenicity | 16 | 89508537 | 89508537 | Human | 2 | name |
| 152042904 | CV1618126 | single nucleotide variant | NM_003119.4(SPG7):c.288T>G (p.Gly96=) | Hereditary spastic paraplegia 7 [RCV002206579] | likely benign | 16 | 89512949 | 89512949 | Human | 1 | name |
| 156328126 | CV2050435 | single nucleotide variant | NM_003119.4(SPG7):c.193T>C (p.Leu65=) | Hereditary spastic paraplegia 7 [RCV002810516] | likely benign | 16 | 89510499 | 89510499 | Human | 1 | name |
| 10410255 | CV211741 | single nucleotide variant | NM_003119.4(SPG7):c.199C>T (p.Leu67=) | Hereditary spastic paraplegia 7 [RCV000860664]|Hereditary spastic paraplegia [RCV001847883]|not provided [RCV001815248]|not specified [RCV000197807] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89510505 | 89510505 | Human | 2 | name |
| 402498107 | CV2877188 | single nucleotide variant | NM_003119.4(SPG7):c.264A>C (p.Pro88=) | Hereditary spastic paraplegia 7 [RCV003508412] | likely benign | 16 | 89510570 | 89510570 | Human | 1 | name |
| 405135956 | CV3048193 | duplication | NM_003119.4(SPG7):c.1552+4_1552+11dup | Hereditary spastic paraplegia 7 [RCV003618820] | likely benign | 16 | 89546762 | 89546763 | Human | 1 | name |
| 405126734 | CV3050101 | single nucleotide variant | NM_003119.4(SPG7):c.11T>C (p.Leu4Pro) | Hereditary spastic paraplegia 7 [RCV003617759]|Inborn genetic diseases [RCV005281458] | uncertain significance | 16 | 89508428 | 89508428 | Human | 2 | name |
| 405252936 | CV3178148 | single nucleotide variant | NM_003119.4(SPG7):c.192A>G (p.Gln64=) | Hereditary spastic paraplegia 7 [RCV003870928] | likely benign | 16 | 89510498 | 89510498 | Human | 1 | name |
| 402511097 | CV3178355 | single nucleotide variant | NM_003119.4(SPG7):c.246A>G (p.Gln82=) | Hereditary spastic paraplegia 7 [RCV003878972] | likely benign | 16 | 89510552 | 89510552 | Human | 1 | name |
| 405260680 | CV3185865 | single nucleotide variant | NM_003119.4(SPG7):c.210T>A (p.Pro70=) | not provided [RCV003884941] | likely benign | 16 | 89510516 | 89510516 | Human | | name |
| 11650809 | CV336676 | single nucleotide variant | NM_003119.4(SPG7):c.141G>A (p.Arg47=) | Hereditary spastic paraplegia 7 [RCV000295035] | uncertain significance | 16 | 89508558 | 89508558 | Human | 1 | name |
| 598262944 | CV3919192 | single nucleotide variant | NM_003119.4(SPG7):c.17T>A (p.Leu6Gln) | Inborn genetic diseases [RCV005280346] | uncertain significance | 16 | 89508434 | 89508434 | Human | 1 | name |
| 13495033 | CV466893 | single nucleotide variant | NM_003119.4(SPG7):c.144T>G (p.Pro48=) | Hereditary spastic paraplegia 7 [RCV000536848] | likely benign | 16 | 89508561 | 89508561 | Human | 1 | name |
| 13518881 | CV486163 | single nucleotide variant | NM_003119.4(SPG7):c.222G>T (p.Gly74=) | not provided [RCV000585188] | uncertain significance | 16 | 89510528 | 89510528 | Human | | name |
| 13529369 | CV505855 | single nucleotide variant | NM_003119.4(SPG7):c.204A>G (p.Leu68=) | Hereditary spastic paraplegia 7 [RCV002531726]|not specified [RCV000600284] | likely benign | 16 | 89510510 | 89510510 | Human | 1 | name |
| 15125947 | CV684633 | single nucleotide variant | NM_003119.4(SPG7):c.250T>C (p.Leu84=) | Hereditary spastic paraplegia 7 [RCV000862674]|Hereditary spastic paraplegia [RCV001849162]|SPG7-related disorder [RCV003955591]|not provided [RCV001555487] | likely benign|uncertain significance | 16 | 89510556 | 89510556 | Human | 2 | name , alternate_id |
| 15098824 | CV688679 | single nucleotide variant | NM_003119.4(SPG7):c.228C>T (p.Asn76=) | Hereditary spastic paraplegia 7 [RCV001450138] | likely benign | 16 | 89510534 | 89510534 | Human | 1 | name |
| 26903426 | CV844498 | single nucleotide variant | NM_003119.4(SPG7):c.25C>T (p.Arg9Cys) | Hereditary spastic paraplegia 7 [RCV001069528]|Inborn genetic diseases [RCV002554580]|not provided [RCV002511031] | uncertain significance | 16 | 89508442 | 89508442 | Human | 2 | name |
| 28878010 | CV860323 | single nucleotide variant | NM_003119.4(SPG7):c.19C>A (p.Leu7Met) | not provided [RCV001090548] | uncertain significance | 16 | 89508436 | 89508436 | Human | | name |
| 38482918 | CV960185 | deletion | NM_003119.4(SPG7):c.2103+2_2103+20del | Hereditary spastic paraplegia 7 [RCV001235713] | likely pathogenic | 16 | 89553962 | 89553980 | Human | 1 | name |
| 126730477 | CV1000975 | single nucleotide variant | NM_003119.4(SPG7):c.930C>T (p.Asp310=) | Hereditary spastic paraplegia 7 [RCV003617923]|not provided [RCV001310346] | likely benign | 16 | 89530751 | 89530751 | Human | 1 | name |
| 126912354 | CV1038495 | single nucleotide variant | NM_003119.4(SPG7):c.50C>A (p.Pro17Gln) | not provided [RCV001356438] | uncertain significance | 16 | 89508467 | 89508467 | Human | | name |
| 127231251 | CV1082581 | single nucleotide variant | NM_003119.4(SPG7):c.783G>A (p.Thr261=) | Hereditary spastic paraplegia 7 [RCV001395205] | likely benign | 16 | 89529501 | 89529501 | Human | 1 | name |
| 127274000 | CV1104368 | single nucleotide variant | NM_003119.4(SPG7):c.822G>C (p.Leu274=) | Hereditary spastic paraplegia 7 [RCV001431804]|not provided [RCV005411751] | likely benign | 16 | 89529540 | 89529540 | Human | 1 | name |
| 127321687 | CV1146666 | single nucleotide variant | NM_003119.4(SPG7):c.423G>T (p.Arg141=) | Hereditary spastic paraplegia 7 [RCV001484636]|not specified [RCV003235576] | likely benign | 16 | 89524052 | 89524052 | Human | 1 | name |
| 150529633 | CV1292902 | single nucleotide variant | NM_003119.4(SPG7):c.498C>T (p.Ser166=) | not provided [RCV001756295] | uncertain significance | 16 | 89524127 | 89524127 | Human | | name |
| 151731583 | CV1335841 | single nucleotide variant | NM_003119.4(SPG7):c.50C>G (p.Pro17Arg) | Hereditary spastic paraplegia 7 [RCV001885411]|Hereditary spastic paraplegia [RCV001848241]|not provided [RCV002275270] | uncertain significance | 16 | 89508467 | 89508467 | Human | 2 | name |
| 151790324 | CV1370417 | single nucleotide variant | NM_003119.4(SPG7):c.28G>T (p.Ala10Ser) | Hereditary spastic paraplegia 7 [RCV001972989] | uncertain significance | 16 | 89508445 | 89508445 | Human | 1 | name |
| 152145077 | CV1543224 | single nucleotide variant | NM_003119.4(SPG7):c.993A>G (p.Pro331=) | Hereditary spastic paraplegia 7 [RCV002178598] | likely benign | 16 | 89531909 | 89531909 | Human | 1 | name |
| 152146498 | CV1545567 | single nucleotide variant | NM_003119.4(SPG7):c.504C>T (p.Asn168=) | Hereditary spastic paraplegia 7 [RCV002157515]|SPG7-related disorder [RCV003923464] | likely benign | 16 | 89524133 | 89524133 | Human | 1 | name , alternate_id |
| 152169900 | CV1546700 | single nucleotide variant | NM_003119.4(SPG7):c.933G>C (p.Val311=) | Hereditary spastic paraplegia 7 [RCV002142939] | likely benign | 16 | 89530754 | 89530754 | Human | 1 | name |
| 152154048 | CV1550357 | single nucleotide variant | NM_003119.4(SPG7):c.37C>G (p.Arg13Gly) | Hereditary spastic paraplegia 7 [RCV002139937] | likely benign | 16 | 89508454 | 89508454 | Human | 1 | name |
| 152118771 | CV1600674 | single nucleotide variant | NM_003119.4(SPG7):c.697C>T (p.Leu233=) | Hereditary spastic paraplegia 7 [RCV002153985]|not provided [RCV004774628] | likely benign|uncertain significance | 16 | 89526407 | 89526407 | Human | 1 | name |
| 152169169 | CV1614104 | single nucleotide variant | NM_003119.4(SPG7):c.705C>T (p.Ile235=) | Hereditary spastic paraplegia 7 [RCV002161354] | likely benign | 16 | 89526415 | 89526415 | Human | 1 | name |
| 152034115 | CV1621479 | single nucleotide variant | NM_003119.4(SPG7):c.357G>A (p.Lys119=) | Hereditary spastic paraplegia 7 [RCV002205293] | likely benign | 16 | 89513018 | 89513018 | Human | 1 | name |
| 156017402 | CV1885362 | single nucleotide variant | NM_003119.4(SPG7):c.627C>T (p.Ala209=) | Hereditary spastic paraplegia 7 [RCV003077439] | likely benign | 16 | 89526337 | 89526337 | Human | 1 | name |
| 156217327 | CV1910720 | single nucleotide variant | NM_003119.4(SPG7):c.495T>C (p.Ile165=) | Hereditary spastic paraplegia 7 [RCV002596322] | likely benign | 16 | 89524124 | 89524124 | Human | 1 | name |
| 156277489 | CV1911955 | single nucleotide variant | NM_003119.4(SPG7):c.561T>C (p.Pro187=) | Hereditary spastic paraplegia 7 [RCV002628314] | likely benign | 16 | 89524190 | 89524190 | Human | 1 | name |
| 156203257 | CV1912982 | single nucleotide variant | NM_003119.4(SPG7):c.50C>T (p.Pro17Leu) | Hereditary spastic paraplegia 7 [RCV002595782] | uncertain significance | 16 | 89508467 | 89508467 | Human | 1 | name |
| 156407280 | CV1918057 | single nucleotide variant | NM_003119.4(SPG7):c.573G>A (p.Val191=) | Hereditary spastic paraplegia 7 [RCV002606847] | likely benign | 16 | 89524202 | 89524202 | Human | 1 | name |
| 156225871 | CV1981593 | single nucleotide variant | NM_003119.4(SPG7):c.438G>A (p.Leu146=) | Hereditary spastic paraplegia 7 [RCV002626614] | likely benign | 16 | 89524067 | 89524067 | Human | 1 | name |
| 156330314 | CV1990964 | single nucleotide variant | NM_003119.4(SPG7):c.80C>A (p.Pro27Gln) | Hereditary spastic paraplegia 7 [RCV002630892] | uncertain significance | 16 | 89508497 | 89508497 | Human | 1 | name |
| 156181518 | CV2020501 | single nucleotide variant | NM_003119.4(SPG7):c.951C>A (p.Ala317=) | Hereditary spastic paraplegia 7 [RCV002710796] | likely benign | 16 | 89530772 | 89530772 | Human | 1 | name |
| 155960293 | CV2040423 | single nucleotide variant | NM_003119.4(SPG7):c.360G>A (p.Ala120=) | Hereditary spastic paraplegia 7 [RCV002776234] | likely benign | 16 | 89513021 | 89513021 | Human | 1 | name |
| 156034783 | CV2047503 | single nucleotide variant | NM_003119.4(SPG7):c.28G>A (p.Ala10Thr) | Hereditary spastic paraplegia 7 [RCV002781259] | uncertain significance | 16 | 89508445 | 89508445 | Human | 1 | name |
| 156033160 | CV2078983 | single nucleotide variant | NM_003119.4(SPG7):c.750C>T (p.Phe250=) | Hereditary spastic paraplegia 7 [RCV002867137] | likely benign | 16 | 89526460 | 89526460 | Human | 1 | name |
| 155936251 | CV2114185 | single nucleotide variant | NM_003119.4(SPG7):c.450T>C (p.Val150=) | Hereditary spastic paraplegia 7 [RCV002904157] | likely benign | 16 | 89524079 | 89524079 | Human | 1 | name |
| 10409936 | CV211738 | single nucleotide variant | NM_003119.4(SPG7):c.58C>T (p.Arg20Trp) | not provided [RCV000197155] | uncertain significance | 16 | 89508475 | 89508475 | Human | | name |
| 10410981 | CV211739 | single nucleotide variant | NM_003119.4(SPG7):c.89G>A (p.Ser30Asn) | Hereditary spastic paraplegia 7 [RCV000389351]|SPG7-related disorder [RCV003417714] | likely benign|uncertain significance | 16 | 89508506 | 89508506 | Human | 1 | name , alternate_id |
| 10409238 | CV211740 | single nucleotide variant | NM_003119.4(SPG7):c.95G>A (p.Gly32Glu) | not specified [RCV000195712] | likely benign | 16 | 89508512 | 89508512 | Human | | name |
| 10409540 | CV211767 | deletion | NM_003119.4(SPG7):c.1780-16_1780-14del | Hereditary spastic paraplegia 7 [RCV002054345]|Spastic Paraplegia, Recessive [RCV000287344]|not specified [RCV000196325] | benign|uncertain significance | 16 | 89552962 | 89552964 | Human | 2 | name |
| 11349599 | CV242529 | single nucleotide variant | NM_003119.4(SPG7):c.80C>G (p.Pro27Arg) | Hereditary spastic paraplegia 7 [RCV000231137]|Inborn genetic diseases [RCV003243025]|not provided [RCV003482246] | uncertain significance | 16 | 89508497 | 89508497 | Human | 2 | name |
| 401738958 | CV2738441 | single nucleotide variant | NM_003119.4(SPG7):c.82G>A (p.Ala28Thr) | not specified [RCV003317833] | uncertain significance | 16 | 89508499 | 89508499 | Human | | name |
| 401931546 | CV2796340 | single nucleotide variant | NM_003119.4(SPG7):c.69G>A (p.Trp23Ter) | SPG7-related disorder [RCV003391406]|not provided [RCV003482463] | likely pathogenic|uncertain significance | 16 | 89508486 | 89508486 | Human | 1 | name , alternate_id |
| 401935596 | CV2814584 | single nucleotide variant | NM_003119.4(SPG7):c.597A>C (p.Gly199=) | not provided [RCV003413053] | likely benign | 16 | 89524226 | 89524226 | Human | | name |
| 402484145 | CV2900396 | single nucleotide variant | NM_003119.4(SPG7):c.762C>T (p.Ala254=) | Hereditary spastic paraplegia 7 [RCV003506807] | likely benign | 16 | 89529480 | 89529480 | Human | 1 | name |
| 405129432 | CV2940048 | single nucleotide variant | NM_003119.4(SPG7):c.52G>A (p.Gly18Ser) | Hereditary spastic paraplegia 7 [RCV003618116] | uncertain significance | 16 | 89508469 | 89508469 | Human | 1 | name |
| 405129978 | CV2945322 | single nucleotide variant | NM_003119.4(SPG7):c.90T>G (p.Ser30Arg) | Hereditary spastic paraplegia 7 [RCV003618172] | uncertain significance | 16 | 89508507 | 89508507 | Human | 1 | name |
| 405130091 | CV2948922 | single nucleotide variant | NM_003119.4(SPG7):c.732C>G (p.Ser244=) | Hereditary spastic paraplegia 7 [RCV003618184] | likely benign | 16 | 89526442 | 89526442 | Human | 1 | name |
| 405133853 | CV2979270 | single nucleotide variant | NM_003119.4(SPG7):c.672G>A (p.Glu224=) | Hereditary spastic paraplegia 7 [RCV003618606] | likely benign | 16 | 89526382 | 89526382 | Human | 1 | name |
| 405125827 | CV3020387 | microsatellite | NM_003119.4(SPG7):c.1325-12_1325-11del | Hereditary spastic paraplegia 7 [RCV003617630] | likely benign | 16 | 89544634 | 89544635 | Human | | name |
| 405127217 | CV3040307 | single nucleotide variant | NM_003119.4(SPG7):c.339G>A (p.Lys113=) | Hereditary spastic paraplegia 7 [RCV003617664] | likely benign | 16 | 89513000 | 89513000 | Human | 1 | name |
| 405126647 | CV3046442 | single nucleotide variant | NM_003119.4(SPG7):c.372C>T (p.Asp124=) | Hereditary spastic paraplegia 7 [RCV003617749] | likely benign | 16 | 89513033 | 89513033 | Human | 1 | name |
| 405126544 | CV3053302 | single nucleotide variant | NM_003119.4(SPG7):c.402C>T (p.Asp134=) | Hereditary spastic paraplegia 7 [RCV003617737] | likely benign | 16 | 89524031 | 89524031 | Human | 1 | name |
| 405136843 | CV3060311 | single nucleotide variant | NM_003119.4(SPG7):c.861T>C (p.Phe287=) | Hereditary spastic paraplegia 7 [RCV003618903] | uncertain significance | 16 | 89529579 | 89529579 | Human | 1 | name |
| 405207141 | CV3120446 | single nucleotide variant | NM_003119.4(SPG7):c.792C>T (p.Gly264=) | Hereditary spastic paraplegia 7 [RCV003822780] | likely benign | 16 | 89529510 | 89529510 | Human | 1 | name |
| 405200998 | CV3128973 | single nucleotide variant | NM_003119.4(SPG7):c.630G>A (p.Leu210=) | Hereditary spastic paraplegia 7 [RCV003822016] | likely benign | 16 | 89526340 | 89526340 | Human | 1 | name |
| 405260120 | CV3186564 | single nucleotide variant | NM_003119.4(SPG7):c.43C>T (p.Pro15Ser) | not provided [RCV003884323] | uncertain significance | 16 | 89508460 | 89508460 | Human | | name |
| 11624073 | CV336690 | single nucleotide variant | NM_003119.4(SPG7):c.306C>T (p.Asn102=) | Hereditary spastic paraplegia 7 [RCV000381153]|not provided [RCV001539840] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89512967 | 89512967 | Human | 1 | name |
| 11620981 | CV342921 | single nucleotide variant | NM_003119.4(SPG7):c.663G>A (p.Lys221=) | Hereditary spastic paraplegia 7 [RCV000343162] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89526373 | 89526373 | Human | 1 | name |
| 407525630 | CV3477819 | single nucleotide variant | NM_003119.4(SPG7):c.49C>G (p.Pro17Ala) | Inborn genetic diseases [RCV004679356] | uncertain significance | 16 | 89508466 | 89508466 | Human | 1 | name |
| 408390804 | CV3521024 | single nucleotide variant | NM_003119.4(SPG7):c.82G>C (p.Ala28Pro) | not provided [RCV004762846] | uncertain significance | 16 | 89508499 | 89508499 | Human | | name |
| 596945973 | CV3548127 | single nucleotide variant | NM_003119.4(SPG7):c.348G>A (p.Ser116=) | not provided [RCV004809458] | likely benign | 16 | 89513009 | 89513009 | Human | | name |
| 597731657 | CV3607479 | single nucleotide variant | NM_003119.4(SPG7):c.76G>C (p.Gly26Arg) | Inborn genetic diseases [RCV004964101] | uncertain significance | 16 | 89508493 | 89508493 | Human | 1 | name |
| 597848253 | CV3736772 | single nucleotide variant | NM_003119.4(SPG7):c.825C>T (p.Ala275=) | Hereditary spastic paraplegia 7 [RCV005065931] | likely benign | 16 | 89529543 | 89529543 | Human | 1 | name |
| 597858349 | CV3769616 | single nucleotide variant | NM_003119.4(SPG7):c.657T>C (p.Ile219=) | Hereditary spastic paraplegia 7 [RCV005105658] | likely benign | 16 | 89526367 | 89526367 | Human | 1 | name |
| 597921458 | CV3777360 | single nucleotide variant | NM_003119.4(SPG7):c.480C>G (p.Thr160=) | Hereditary spastic paraplegia 7 [RCV005130289] | likely benign | 16 | 89524109 | 89524109 | Human | 1 | name |
| 597848338 | CV3792944 | single nucleotide variant | NM_003119.4(SPG7):c.37C>T (p.Arg13Trp) | Hereditary spastic paraplegia 7 [RCV005145080] | uncertain significance | 16 | 89508454 | 89508454 | Human | 1 | name |
| 597946760 | CV3841735 | single nucleotide variant | NM_003119.4(SPG7):c.399G>A (p.Arg133=) | Hereditary spastic paraplegia 7 [RCV005189169] | likely benign | 16 | 89524028 | 89524028 | Human | 1 | name |
| 597889436 | CV3856089 | single nucleotide variant | NM_003119.4(SPG7):c.28G>C (p.Ala10Pro) | Hereditary spastic paraplegia 7 [RCV005200334] | uncertain significance | 16 | 89508445 | 89508445 | Human | 1 | name |
| 598223563 | CV3892136 | insertion | NM_003119.4(SPG7):c.1150_1150+1insCTAC | Hereditary spastic paraplegia 7 [RCV005253475] | pathogenic | 16 | 89532066 | 89532067 | Human | 1 | name |
| 13480853 | CV441934 | single nucleotide variant | NM_003119.4(SPG7):c.53G>T (p.Gly18Val) | not specified [RCV000517403] | uncertain significance | 16 | 89508470 | 89508470 | Human | | name |
| 13487218 | CV466106 | single nucleotide variant | NM_003119.4(SPG7):c.558G>C (p.Val186=) | Hereditary spastic paraplegia 7 [RCV000531692]|SPG7-related disorder [RCV003915553] | likely benign | 16 | 89524187 | 89524187 | Human | 1 | name , alternate_id |
| 13540177 | CV505670 | single nucleotide variant | NM_003119.4(SPG7):c.483C>T (p.Ser161=) | Hereditary spastic paraplegia 7 [RCV000867347]|not specified [RCV000614334] | likely benign | 16 | 89524112 | 89524112 | Human | 1 | name |
| 13533552 | CV506090 | single nucleotide variant | NM_003119.4(SPG7):c.516C>T (p.His172=) | Hereditary spastic paraplegia 7 [RCV002529628]|Hereditary spastic paraplegia [RCV001848991]|not specified [RCV000607127] | likely benign|uncertain significance | 16 | 89524145 | 89524145 | Human | 2 | name |
| 13535299 | CV506110 | deletion | NM_003119.4(SPG7):c.1150+19_1150+31del | not specified [RCV000607677] | likely benign | 16 | 89532081 | 89532093 | Human | | name |
| 14715596 | CV645143 | single nucleotide variant | NM_003119.4(SPG7):c.86G>A (p.Trp29Ter) | Hereditary spastic paraplegia 7 [RCV000800813]|not provided [RCV001662829] | pathogenic | 16 | 89508503 | 89508503 | Human | 1 | name |
| 14743530 | CV656397 | single nucleotide variant | NM_003119.4(SPG7):c.318G>A (p.Leu106=) | Hereditary spastic paraplegia 7 [RCV003617865]|not provided [RCV000842123] | likely benign | 16 | 89512979 | 89512979 | Human | 1 | name |
| 14978239 | CV677259 | single nucleotide variant | NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) | Hereditary spastic paraplegia 7 [RCV001391422]|Polyneuropathy [RCV000850308] | pathogenic | 16 | 89508504 | 89508504 | Human | 3 | name |
| 15134901 | CV684634 | single nucleotide variant | NM_003119.4(SPG7):c.474C>T (p.Leu158=) | Hereditary spastic paraplegia 7 [RCV002538937] | likely benign | 16 | 89524103 | 89524103 | Human | 1 | name |
| 15158210 | CV688680 | single nucleotide variant | NM_003119.4(SPG7):c.360G>C (p.Ala120=) | Hereditary spastic paraplegia 7 [RCV001423735] | likely benign | 16 | 89513021 | 89513021 | Human | 1 | name |
| 21075489 | CV797458 | single nucleotide variant | NM_003119.4(SPG7):c.444C>T (p.Ile148=) | not provided [RCV000996403] | uncertain significance | 16 | 89524073 | 89524073 | Human | | name |
| 26901664 | CV844499 | single nucleotide variant | NM_003119.4(SPG7):c.32T>C (p.Leu11Pro) | Hereditary spastic paraplegia 7 [RCV001059473] | uncertain significance | 16 | 89508449 | 89508449 | Human | 1 | name |
| 26901530 | CV844501 | single nucleotide variant | NM_003119.4(SPG7):c.891T>A (p.Ile297=) | Hereditary spastic paraplegia 7 [RCV001058664] | likely benign|uncertain significance | 16 | 89530712 | 89530712 | Human | 1 | name |
| 28877739 | CV876183 | single nucleotide variant | NM_003119.4(SPG7):c.763C>T (p.Leu255=) | Hereditary spastic paraplegia 7 [RCV001116671] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89529481 | 89529481 | Human | 1 | name |
| 38465058 | CV937663 | single nucleotide variant | NM_003119.4(SPG7):c.40G>A (p.Gly14Ser) | Hereditary spastic paraplegia 7 [RCV001201656] | uncertain significance | 16 | 89508457 | 89508457 | Human | 1 | name |
| 38477809 | CV949638 | single nucleotide variant | NM_003119.4(SPG7):c.76G>T (p.Gly26Cys) | Hereditary spastic paraplegia 7 [RCV001233635]|Inborn genetic diseases [RCV005278777]|not provided [RCV003482351] | uncertain significance | 16 | 89508493 | 89508493 | Human | 2 | name |
| 126744513 | CV997240 | single nucleotide variant | NM_003119.4(SPG7):c.99C>G (p.Phe33Leu) | Hereditary spastic paraplegia 7 [RCV001296267] | uncertain significance | 16 | 89508516 | 89508516 | Human | 1 | name |
| 126730495 | CV1000978 | single nucleotide variant | NM_003119.4(SPG7):c.1635C>T (p.Phe545=) | Hereditary spastic paraplegia 7 [RCV005057247]|not provided [RCV001310350] | likely benign | 16 | 89548085 | 89548085 | Human | 1 | name |
| 596945408 | CV1063802 | deletion | NM_003119.4(SPG7):c.851del (p.Phe284fs) | Hereditary spastic paraplegia 7 [RCV004818484] | likely pathogenic | 16 | 89529568 | 89529568 | Human | 1 | name |
| 127254289 | CV1104369 | single nucleotide variant | NM_003119.4(SPG7):c.1647G>A (p.Val549=) | Hereditary spastic paraplegia 7 [RCV001437196] | likely benign | 16 | 89548097 | 89548097 | Human | 1 | name |
| 127327177 | CV1146667 | single nucleotide variant | NM_003119.4(SPG7):c.1083G>C (p.Ala361=) | Hereditary spastic paraplegia 7 [RCV001506488] | likely benign | 16 | 89531999 | 89531999 | Human | 1 | name |
| 127338003 | CV1146668 | single nucleotide variant | NM_003119.4(SPG7):c.1350C>T (p.Ile450=) | Hereditary spastic paraplegia 7 [RCV001493366] | likely benign | 16 | 89544673 | 89544673 | Human | 1 | name |
| 127317681 | CV1146669 | single nucleotide variant | NM_003119.4(SPG7):c.2058C>T (p.Ile686=) | Hereditary spastic paraplegia 7 [RCV001483223]|not provided [RCV003883664] | likely benign | 16 | 89553915 | 89553915 | Human | 1 | name |
| 150336262 | CV1166211 | single nucleotide variant | NM_003119.4(SPG7):c.1728G>A (p.Ser576=) | Hereditary spastic paraplegia 7 [RCV002070386]|Hereditary spastic paraplegia [RCV001847299]|not provided [RCV001531868] | likely benign|uncertain significance | 16 | 89550558 | 89550558 | Human | 2 | name |
| 150462085 | CV1206540 | single nucleotide variant | NM_003119.4(SPG7):c.2106A>G (p.Glu702=) | not provided [RCV001586941] | likely benign | 16 | 89554488 | 89554488 | Human | | name |
| 150431759 | CV1246040 | single nucleotide variant | NM_003119.4(SPG7):c.167G>A (p.Gly56Glu) | Hereditary spastic paraplegia 7 [RCV002538567]|not provided [RCV001663452] | pathogenic|uncertain significance | 16 | 89508584 | 89508584 | Human | 1 | name |
| 150446057 | CV1271811 | single nucleotide variant | NM_003119.4(SPG7):c.1638G>A (p.Glu546=) | not provided [RCV001691225] | likely benign | 16 | 89548088 | 89548088 | Human | | name |
| 150553027 | CV1298037 | single nucleotide variant | NM_003119.4(SPG7):c.2181G>A (p.Ala727=) | Hereditary spastic paraplegia 7 [RCV003507387]|not provided [RCV001768650] | uncertain significance | 16 | 89554563 | 89554563 | Human | 1 | name |
| 150535670 | CV1311976 | single nucleotide variant | NM_003119.4(SPG7):c.1587G>A (p.Ala529=) | not provided [RCV001779787] | likely benign | 16 | 89548037 | 89548037 | Human | | name |
| 150546845 | CV1313925 | deletion | NM_003119.4(SPG7):c.711del (p.Lys238fs) | Hereditary spastic paraplegia 7 [RCV001785018] | pathogenic | 16 | 89526420 | 89526420 | Human | 1 | name |
| 151753726 | CV1335829 | single nucleotide variant | NM_003119.4(SPG7):c.1257C>T (p.Thr419=) | Hereditary spastic paraplegia [RCV001848229] | uncertain significance | 16 | 89532569 | 89532569 | Human | 1 | name |
| 151753791 | CV1335839 | single nucleotide variant | NM_003119.4(SPG7):c.2385G>A (p.Lys795=) | Hereditary spastic paraplegia [RCV001848239] | uncertain significance | 16 | 89557090 | 89557090 | Human | 1 | name |
| 151753797 | CV1335840 | single nucleotide variant | NM_003119.4(SPG7):c.244C>T (p.Gln82Ter) | Hereditary spastic paraplegia 7 [RCV003617944]|Hereditary spastic paraplegia [RCV001848240] | pathogenic|likely pathogenic | 16 | 89510550 | 89510550 | Human | 2 | name |
| 151859900 | CV1373973 | deletion | NM_003119.4(SPG7):c.861del (p.Phe287fs) | Hereditary spastic paraplegia 7 [RCV001938406] | pathogenic | 16 | 89529576 | 89529576 | Human | 1 | name |
| 8692977 | CV142942 | single nucleotide variant | NM_003119.4(SPG7):c.1032C>T (p.Gly344=) | Hereditary spastic paraplegia 7 [RCV001081406]|Hereditary spastic paraplegia [RCV001847760]|not provided [RCV000416207]|not specified [RCV000128200] | likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89531948 | 89531948 | Human | 2 | name |
| 8692983 | CV142948 | single nucleotide variant | NM_003119.4(SPG7):c.1770C>T (p.Ala590=) | Hereditary spastic paraplegia 7 [RCV001084835]|Hereditary spastic paraplegia [RCV001847763]|not provided [RCV000713481]|not specified [RCV000128206] | benign|uncertain significance | 16 | 89550600 | 89550600 | Human | 2 | name |
| 8692986 | CV142951 | single nucleotide variant | NM_003119.4(SPG7):c.2037G>A (p.Ala679=) | Hereditary spastic paraplegia 7 [RCV001082373]|Hereditary spastic paraplegia [RCV001847764]|not provided [RCV000713483]|not specified [RCV000128209] | benign|uncertain significance | 16 | 89553894 | 89553894 | Human | 2 | name |
| 8692987 | CV142952 | single nucleotide variant | NM_003119.4(SPG7):c.2280G>A (p.Pro760=) | Hereditary spastic paraplegia 7 [RCV001000211]|Hereditary spastic paraplegia [RCV001847765]|not provided [RCV004704987]|not specified [RCV000128210] | benign|likely benign|uncertain significance | 16 | 89556985 | 89556985 | Human | 2 | name |
| 8692988 | CV142953 | single nucleotide variant | NM_003119.4(SPG7):c.2292C>T (p.Ile764=) | Hereditary spastic paraplegia 7 [RCV001080121]|Hereditary spastic paraplegia [RCV001847766]|not provided [RCV000713485]|not specified [RCV000128211] | benign | 16 | 89556997 | 89556997 | Human | 2 | name |
| 8692989 | CV142954 | single nucleotide variant | NM_003119.4(SPG7):c.2295C>T (p.Asp765=) | Hereditary spastic paraplegia 7 [RCV001086122]|Hereditary spastic paraplegia [RCV001847767]|not provided [RCV000713486]|not specified [RCV000128212] | benign|likely benign|uncertain significance | 16 | 89557000 | 89557000 | Human | 2 | name |
| 151758489 | CV1438919 | deletion | NM_003119.4(SPG7):c.749del (p.Phe250fs) | Hereditary spastic paraplegia 7 [RCV002007581] | pathogenic | 16 | 89526458 | 89526458 | Human | 1 | name |
| 151875059 | CV1511664 | single nucleotide variant | NM_003119.4(SPG7):c.161A>T (p.Glu54Val) | Hereditary spastic paraplegia 7 [RCV001960940] | uncertain significance | 16 | 89508578 | 89508578 | Human | 1 | name |
| 152166555 | CV1524394 | single nucleotide variant | NM_003119.4(SPG7):c.1419G>T (p.Arg473=) | Hereditary spastic paraplegia 7 [RCV002141949] | likely benign | 16 | 89544742 | 89544742 | Human | 1 | name |
| 152025671 | CV1527860 | single nucleotide variant | NM_003119.4(SPG7):c.1080G>A (p.Lys360=) | Hereditary spastic paraplegia 7 [RCV002084541] | likely benign | 16 | 89531996 | 89531996 | Human | 1 | name |
| 152058593 | CV1531927 | single nucleotide variant | NM_003119.4(SPG7):c.2253C>T (p.Pro751=) | Hereditary spastic paraplegia 7 [RCV002089992] | likely benign | 16 | 89556958 | 89556958 | Human | 1 | name |
| 152126376 | CV1533781 | single nucleotide variant | NM_003119.4(SPG7):c.1305G>A (p.Gln435=) | Hereditary spastic paraplegia 7 [RCV002136370] | likely benign | 16 | 89532617 | 89532617 | Human | 1 | name |
| 152148912 | CV1545295 | single nucleotide variant | NM_003119.4(SPG7):c.1050C>T (p.Pro350=) | Hereditary spastic paraplegia 7 [RCV002121469] | likely benign | 16 | 89531966 | 89531966 | Human | 1 | name |
| 152108338 | CV1550780 | single nucleotide variant | NM_003119.4(SPG7):c.1626T>A (p.Thr542=) | Hereditary spastic paraplegia 7 [RCV002152709] | likely benign | 16 | 89548076 | 89548076 | Human | 1 | name |
| 152161583 | CV1555451 | single nucleotide variant | NM_003119.4(SPG7):c.1695G>A (p.Lys565=) | Hereditary spastic paraplegia 7 [RCV002103898] | likely benign | 16 | 89550525 | 89550525 | Human | 1 | name |
| 152087323 | CV1601194 | single nucleotide variant | NM_003119.4(SPG7):c.2247G>A (p.Pro749=) | Hereditary spastic paraplegia 7 [RCV002093669] | likely benign | 16 | 89556952 | 89556952 | Human | 1 | name |
| 152075543 | CV1635424 | single nucleotide variant | NM_003119.4(SPG7):c.1737C>G (p.Ala579=) | Hereditary spastic paraplegia 7 [RCV002092171] | likely benign | 16 | 89550567 | 89550567 | Human | 1 | name |
| 152135394 | CV1638556 | single nucleotide variant | NM_003119.4(SPG7):c.1053C>G (p.Pro351=) | Hereditary spastic paraplegia 7 [RCV002083433] | likely benign | 16 | 89531969 | 89531969 | Human | 1 | name |
| 155800856 | CV1863851 | single nucleotide variant | NM_003119.4(SPG7):c.1248G>A (p.Lys416=) | Hereditary spastic paraplegia 7 [RCV002574692]|not provided [RCV002474274] | likely benign|uncertain significance | 16 | 89532560 | 89532560 | Human | 1 | name |
| 155949855 | CV1869494 | single nucleotide variant | NM_003119.4(SPG7):c.146C>T (p.Pro49Leu) | Hereditary spastic paraplegia 7 [RCV003074082] | uncertain significance | 16 | 89508563 | 89508563 | Human | 1 | name |
| 156157169 | CV1875538 | single nucleotide variant | NM_003119.4(SPG7):c.1584T>C (p.Ala528=) | Hereditary spastic paraplegia 7 [RCV003056756] | likely benign | 16 | 89548034 | 89548034 | Human | 1 | name |
| 156310008 | CV1878132 | single nucleotide variant | NM_003119.4(SPG7):c.1393C>T (p.Leu465=) | Hereditary spastic paraplegia 7 [RCV003062395] | likely benign | 16 | 89544716 | 89544716 | Human | 1 | name |
| 156051140 | CV1884433 | single nucleotide variant | NM_003119.4(SPG7):c.2013C>T (p.Ile671=) | Hereditary spastic paraplegia 7 [RCV003078878] | likely benign | 16 | 89553870 | 89553870 | Human | 1 | name |
| 156022989 | CV1899497 | single nucleotide variant | NM_003119.4(SPG7):c.1803C>T (p.Asn601=) | Hereditary spastic paraplegia 7 [RCV003100290] | likely benign | 16 | 89553002 | 89553002 | Human | 1 | name |
| 156418758 | CV1918724 | single nucleotide variant | NM_003119.4(SPG7):c.2173T>C (p.Leu725=) | Hereditary spastic paraplegia 7 [RCV002611966] | likely benign | 16 | 89554555 | 89554555 | Human | 1 | name |
| 155948333 | CV1921764 | single nucleotide variant | NM_003119.4(SPG7):c.1365G>A (p.Thr455=) | Hereditary spastic paraplegia 7 [RCV002616076] | benign | 16 | 89544688 | 89544688 | Human | 1 | name |
| 10050720 | CV192355 | single nucleotide variant | NM_003119.4(SPG7):c.234G>T (p.Leu78Phe) | Hereditary spastic paraplegia 7 [RCV002056943]|not provided [RCV000175748] | likely benign|uncertain significance | 16 | 89510540 | 89510540 | Human | 1 | name |
| 156449207 | CV1944465 | single nucleotide variant | NM_003119.4(SPG7):c.1486C>T (p.Leu496=) | Hereditary spastic paraplegia 7 [RCV003121320] | likely benign | 16 | 89546694 | 89546694 | Human | 1 | name |
| 10053207 | CV195942 | single nucleotide variant | NM_003119.4(SPG7):c.1083G>A (p.Ala361=) | Hereditary spastic paraplegia 7 [RCV001085115]|Hereditary spastic paraplegia [RCV001847819]|SPG7-related disorder [RCV003937635]|not provided [RCV000724712]|not specified [RCV000195569] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89531999 | 89531999 | Human | 2 | name , alternate_id |
| 156118925 | CV1982649 | single nucleotide variant | NM_003119.4(SPG7):c.1974C>G (p.Ala658=) | Hereditary spastic paraplegia 7 [RCV002622868] | likely benign | 16 | 89553831 | 89553831 | Human | 1 | name |
| 155944416 | CV2003063 | single nucleotide variant | NM_003119.4(SPG7):c.270A>C (p.Arg90Ser) | Hereditary spastic paraplegia 7 [RCV002685660]|Inborn genetic diseases [RCV002685661]|not provided [RCV005429393] | uncertain significance | 16 | 89510576 | 89510576 | Human | 2 | name |
| 155991428 | CV2049647 | single nucleotide variant | NM_003119.4(SPG7):c.1116G>C (p.Ala372=) | Hereditary spastic paraplegia 7 [RCV002819223] | likely benign | 16 | 89532032 | 89532032 | Human | 1 | name |
| 156009414 | CV2051323 | single nucleotide variant | NM_003119.4(SPG7):c.184A>C (p.Ser62Arg) | Hereditary spastic paraplegia 7 [RCV002820042] | uncertain significance | 16 | 89510490 | 89510490 | Human | 1 | name |
| 156314922 | CV2074797 | single nucleotide variant | NM_003119.4(SPG7):c.1797G>T (p.Arg599=) | Hereditary spastic paraplegia 7 [RCV002834342] | likely benign|uncertain significance | 16 | 89552996 | 89552996 | Human | 1 | name |
| 156036530 | CV2097761 | single nucleotide variant | NM_003119.4(SPG7):c.1641C>T (p.Tyr547=) | Hereditary spastic paraplegia 7 [RCV002885629] | likely benign | 16 | 89548091 | 89548091 | Human | 1 | name |
| 156309407 | CV2109432 | single nucleotide variant | NM_003119.4(SPG7):c.1116G>A (p.Ala372=) | Hereditary spastic paraplegia 7 [RCV002922985] | likely benign | 16 | 89532032 | 89532032 | Human | 1 | name |
| 10410729 | CV211742 | single nucleotide variant | NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) | Hereditary spastic paraplegia 7 [RCV000765319]|Hereditary spastic paraplegia [RCV001847887]|not provided [RCV000198775]|not specified [RCV003993885] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89510526 | 89510526 | Human | 2 | name |
| 10409446 | CV211761 | single nucleotide variant | NM_003119.4(SPG7):c.1653C>T (p.Arg551=) | Hereditary spastic paraplegia 7 [RCV001088894]|Hereditary spastic paraplegia [RCV001847884]|not provided [RCV003221854]|not specified [RCV000196125] | benign|uncertain significance | 16 | 89548103 | 89548103 | Human | 2 | name |
| 156027870 | CV2131452 | single nucleotide variant | NM_003119.4(SPG7):c.2334C>T (p.Thr778=) | Hereditary spastic paraplegia 7 [RCV002976472] | likely benign | 16 | 89557039 | 89557039 | Human | 1 | name |
| 156309766 | CV2133135 | single nucleotide variant | NM_003119.4(SPG7):c.1443G>A (p.Thr481=) | Hereditary spastic paraplegia 7 [RCV003011040]|not provided [RCV003883859] | likely benign | 16 | 89544766 | 89544766 | Human | 1 | name |
| 156259307 | CV2138517 | single nucleotide variant | NM_003119.4(SPG7):c.1440C>A (p.Pro480=) | Hereditary spastic paraplegia 7 [RCV002988409] | likely benign | 16 | 89544763 | 89544763 | Human | 1 | name |
| 155936442 | CV2149967 | single nucleotide variant | NM_003119.4(SPG7):c.132G>T (p.Met44Ile) | Hereditary spastic paraplegia 7 [RCV003013972] | uncertain significance | 16 | 89508549 | 89508549 | Human | 1 | name |
| 155934217 | CV2153409 | single nucleotide variant | NM_003119.4(SPG7):c.1680C>T (p.Ser560=) | Hereditary spastic paraplegia 7 [RCV003013816] | likely benign | 16 | 89550510 | 89550510 | Human | 1 | name |
| 156001397 | CV2168144 | deletion | NM_003119.4(SPG7):c.960del (p.Val321fs) | Hereditary spastic paraplegia 7 [RCV003034792] | pathogenic | 16 | 89530780 | 89530780 | Human | 1 | name |
| 8597268 | CV21855 | single nucleotide variant | NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) | Hereditary spastic paraplegia 7 [RCV000007218]|Hereditary spastic paraplegia [RCV001847594]|Proximal spinal muscular atrophy [RCV000664258]|Retinal dystrophy [RCV004814852]|SPG7-related disorder [RCV004752689]|not provided [RCV000200640] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89510539 | 89510539 | Human | 6 | name , alternate_id |
| 156127295 | CV2185732 | single nucleotide variant | NM_003119.4(SPG7):c.1887C>G (p.Ala629=) | Hereditary spastic paraplegia 7 [RCV003055700] | likely benign | 16 | 89553086 | 89553086 | Human | 1 | name |
| 156260550 | CV2274194 | single nucleotide variant | NM_003119.4(SPG7):c.197G>T (p.Arg66Ile) | Inborn genetic diseases [RCV002831681] | uncertain significance | 16 | 89510503 | 89510503 | Human | 1 | name |
| 243061395 | CV2408932 | single nucleotide variant | NM_003119.4(SPG7):c.101C>T (p.Pro34Leu) | Hereditary spastic paraplegia 7 [RCV003138649] | uncertain significance | 16 | 89508518 | 89508518 | Human | 1 | name |
| 243049636 | CV2417028 | single nucleotide variant | NM_003119.4(SPG7):c.1923C>T (p.Asn641=) | Hereditary spastic paraplegia 7 [RCV003151701] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89553122 | 89553122 | Human | 1 | name |
| 11349241 | CV242531 | single nucleotide variant | NM_003119.4(SPG7):c.1242C>G (p.Gly414=) | Hereditary spastic paraplegia 7 [RCV001476783] | likely benign | 16 | 89532554 | 89532554 | Human | 1 | name |
| 11551569 | CV255960 | single nucleotide variant | NM_003119.4(SPG7):c.1422C>T (p.His474=) | Hereditary spastic paraplegia 7 [RCV002518624]|Hereditary spastic paraplegia [RCV001848025]|not provided [RCV001528894]|not specified [RCV000253214] | likely benign | 16 | 89544745 | 89544745 | Human | 2 | name |
| 11547356 | CV255963 | single nucleotide variant | NM_003119.4(SPG7):c.1764G>A (p.Thr588=) | Hereditary spastic paraplegia 7 [RCV001497050]|not provided [RCV001589258]|not specified [RCV000247647] | likely benign | 16 | 89550594 | 89550594 | Human | 1 | name |
| 401739913 | CV2684210 | single nucleotide variant | NM_003119.4(SPG7):c.119G>T (p.Gly40Val) | Inborn genetic diseases [RCV003240515] | uncertain significance | 16 | 89508536 | 89508536 | Human | 1 | name |
| 401741038 | CV2702737 | single nucleotide variant | NM_003119.4(SPG7):c.190C>G (p.Gln64Glu) | Inborn genetic diseases [RCV003292508] | uncertain significance | 16 | 89510496 | 89510496 | Human | 1 | name |
| 401729753 | CV2736552 | deletion | NM_003119.4(SPG7):c.808del (p.Tyr270fs) | Hereditary spastic paraplegia 7 [RCV003313013] | pathogenic | 16 | 89529526 | 89529526 | Human | 1 | name |
| 401924580 | CV2804970 | single nucleotide variant | NM_003119.4(SPG7):c.124C>T (p.Pro42Ser) | Hereditary spastic paraplegia 7 [RCV003618077]|not specified [RCV003404789] | uncertain significance | 16 | 89508541 | 89508541 | Human | 1 | name |
| 401935598 | CV2814587 | single nucleotide variant | NM_003119.4(SPG7):c.1296G>A (p.Thr432=) | Hereditary spastic paraplegia 7 [RCV003778395]|not provided [RCV003413055] | likely benign | 16 | 89532608 | 89532608 | Human | 1 | name |
| 401935599 | CV2814588 | single nucleotide variant | NM_003119.4(SPG7):c.1350C>A (p.Ile450=) | not provided [RCV003413056] | likely benign | 16 | 89544673 | 89544673 | Human | | name |
| 402490319 | CV2864170 | single nucleotide variant | NM_003119.4(SPG7):c.1044C>T (p.Leu348=) | Hereditary spastic paraplegia 7 [RCV003507560] | likely benign | 16 | 89531960 | 89531960 | Human | 1 | name |
| 402496125 | CV2867283 | single nucleotide variant | NM_003119.4(SPG7):c.1773G>C (p.Val591=) | Hereditary spastic paraplegia 7 [RCV003508145] | likely benign | 16 | 89550603 | 89550603 | Human | 1 | name |
| 402501421 | CV2887333 | single nucleotide variant | NM_003119.4(SPG7):c.1230C>A (p.Ile410=) | Hereditary spastic paraplegia 7 [RCV003508767] | likely benign | 16 | 89532542 | 89532542 | Human | 1 | name |
| 402502667 | CV2895486 | single nucleotide variant | NM_003119.4(SPG7):c.1047C>A (p.Gly349=) | Hereditary spastic paraplegia 7 [RCV003508908] | likely benign | 16 | 89531963 | 89531963 | Human | 1 | name |
| 402484849 | CV2907549 | single nucleotide variant | NM_003119.4(SPG7):c.1455G>A (p.Arg485=) | Hereditary spastic paraplegia 7 [RCV003506872] | likely benign | 16 | 89546663 | 89546663 | Human | 1 | name |
| 402493186 | CV2929283 | single nucleotide variant | NM_003119.4(SPG7):c.297C>G (p.Phe99Leu) | Hereditary spastic paraplegia 7 [RCV003507863] | uncertain significance | 16 | 89512958 | 89512958 | Human | 1 | name |
| 405127261 | CV3034651 | single nucleotide variant | NM_003119.4(SPG7):c.1668T>G (p.Thr556=) | Hereditary spastic paraplegia 7 [RCV003617659] | likely benign | 16 | 89550498 | 89550498 | Human | 1 | name |
| 405126181 | CV3035759 | single nucleotide variant | NM_003119.4(SPG7):c.132G>A (p.Met44Ile) | Hereditary spastic paraplegia 7 [RCV003617695] | uncertain significance | 16 | 89508549 | 89508549 | Human | 1 | name |
| 405127379 | CV3053976 | single nucleotide variant | NM_003119.4(SPG7):c.2322C>T (p.Gly774=) | Hereditary spastic paraplegia 7 [RCV003617778] | likely benign | 16 | 89557027 | 89557027 | Human | 1 | name |
| 405139483 | CV3078863 | single nucleotide variant | NM_003119.4(SPG7):c.100C>A (p.Pro34Thr) | Hereditary spastic paraplegia 7 [RCV003619028] | uncertain significance | 16 | 89508517 | 89508517 | Human | 1 | name |
| 405138549 | CV3079538 | single nucleotide variant | NM_003119.4(SPG7):c.248A>G (p.His83Arg) | Hereditary spastic paraplegia 7 [RCV003619070] | uncertain significance | 16 | 89510554 | 89510554 | Human | 1 | name |
| 405249628 | CV3170036 | single nucleotide variant | NM_003119.4(SPG7):c.1728G>C (p.Ser576=) | Hereditary spastic paraplegia 7 [RCV003869665] | likely benign | 16 | 89550558 | 89550558 | Human | 1 | name |
| 404984511 | CV3183656 | single nucleotide variant | NM_003119.4(SPG7):c.1497C>A (p.Thr499=) | Hereditary spastic paraplegia 7 [RCV003880933] | likely benign | 16 | 89546705 | 89546705 | Human | 1 | name |
| 405293101 | CV3221272 | single nucleotide variant | NM_003119.4(SPG7):c.1155C>T (p.Leu385=) | SPG7-related disorder [RCV003966798] | likely benign | 16 | 89532467 | 89532467 | Human | | name , trait , alternate_id |
| 405735459 | CV3323113 | single nucleotide variant | NM_003119.4(SPG7):c.211A>G (p.Thr71Ala) | Inborn genetic diseases [RCV004464885]|not provided [RCV005104718] | uncertain significance | 16 | 89510517 | 89510517 | Human | 1 | name |
| 405735466 | CV3323114 | single nucleotide variant | NM_003119.4(SPG7):c.229G>A (p.Gly77Arg) | Inborn genetic diseases [RCV004464886] | uncertain significance | 16 | 89510535 | 89510535 | Human | 1 | name |
| 11614096 | CV336697 | single nucleotide variant | NM_003119.4(SPG7):c.1359G>A (p.Ala453=) | Hereditary spastic paraplegia 7 [RCV000274144]|not specified [RCV000419596] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89544682 | 89544682 | Human | 1 | name |
| 11623481 | CV336701 | single nucleotide variant | NM_003119.4(SPG7):c.1971C>T (p.Ile657=) | Hereditary spastic paraplegia 7 [RCV000373621] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89553828 | 89553828 | Human | 1 | name |
| 11618361 | CV336703 | single nucleotide variant | NM_003119.4(SPG7):c.2083C>T (p.Leu695=) | Hereditary spastic paraplegia 7 [RCV000313068] | uncertain significance | 16 | 89553940 | 89553940 | Human | 1 | name |
| 405854116 | CV3393777 | single nucleotide variant | NM_003119.4(SPG7):c.197G>A (p.Arg66Lys) | not provided [RCV004547003] | uncertain significance | 16 | 89510503 | 89510503 | Human | | name |
| 405854476 | CV3393933 | single nucleotide variant | NM_003119.4(SPG7):c.139A>G (p.Arg47Gly) | not provided [RCV004547159] | uncertain significance | 16 | 89508556 | 89508556 | Human | | name |
| 408394776 | CV3395412 | deletion | NM_003119.4(SPG7):c.784del (p.Ala262fs) | Hereditary spastic paraplegia 7 [RCV004765044] | likely pathogenic | 16 | 89529501 | 89529501 | Human | 1 | name |
| 408394799 | CV3395435 | deletion | NM_003119.4(SPG7):c.654del (p.Asn218fs) | Hereditary spastic paraplegia 7 [RCV004765067] | likely pathogenic | 16 | 89526364 | 89526364 | Human | 1 | name |
| 596945332 | CV3401468 | deletion | NM_003119.4(SPG7):c.694del (p.Glu232fs) | Hereditary spastic paraplegia 7 [RCV004818488]|Retinal dystrophy [RCV004818489] | pathogenic|likely pathogenic | 16 | 89526404 | 89526404 | Human | 3 | name |
| 596932986 | CV3539614 | single nucleotide variant | NM_003119.4(SPG7):c.279A>C (p.Gln93His) | Hereditary spastic paraplegia 7 [RCV005105104]|not provided [RCV004794239] | uncertain significance | 16 | 89510585 | 89510585 | Human | 1 | name |
| 597731665 | CV3607480 | single nucleotide variant | NM_003119.4(SPG7):c.175G>C (p.Ala59Pro) | Inborn genetic diseases [RCV004964102] | uncertain significance | 16 | 89508592 | 89508592 | Human | 1 | name |
| 597714315 | CV3711971 | deletion | NM_003119.4(SPG7):c.297del (p.Tyr100fs) | Hereditary spastic paraplegia 7 [RCV005010068] | likely pathogenic | 16 | 89512958 | 89512958 | Human | 1 | name |
| 597834662 | CV3739533 | single nucleotide variant | NM_003119.4(SPG7):c.1563C>T (p.Ile521=) | Hereditary spastic paraplegia 7 [RCV005063752] | likely benign | 16 | 89548013 | 89548013 | Human | 1 | name |
| 597929643 | CV3742104 | single nucleotide variant | NM_003119.4(SPG7):c.1233C>T (p.Asp411=) | Hereditary spastic paraplegia 7 [RCV005075736] | likely benign | 16 | 89532545 | 89532545 | Human | 1 | name |
| 597932761 | CV3742676 | single nucleotide variant | NM_003119.4(SPG7):c.176C>T (p.Ala59Val) | Hereditary spastic paraplegia 7 [RCV005076115] | uncertain significance | 16 | 89508593 | 89508593 | Human | 1 | name |
| 12836381 | CV374763 | single nucleotide variant | NM_003119.4(SPG7):c.1656C>T (p.Val552=) | not provided [RCV001720104] | likely benign | 16 | 89548106 | 89548106 | Human | | name |
| 12840249 | CV374766 | single nucleotide variant | NM_003119.4(SPG7):c.1830C>T (p.Leu610=) | Hereditary spastic paraplegia 7 [RCV001085526]|not provided [RCV000584949] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89553029 | 89553029 | Human | 1 | name |
| 597891505 | CV3749387 | single nucleotide variant | NM_003119.4(SPG7):c.1251C>T (p.Arg417=) | Hereditary spastic paraplegia 7 [RCV005071171] | likely benign | 16 | 89532563 | 89532563 | Human | 1 | name |
| 12836796 | CV375639 | single nucleotide variant | NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) | Hereditary spastic paraplegia 7 [RCV002524804]|Inborn genetic diseases [RCV002521540]|not specified [RCV000424051] | benign|likely benign|uncertain significance | 16 | 89510550 | 89510550 | Human | 2 | name |
| 12836907 | CV375820 | single nucleotide variant | NM_003119.4(SPG7):c.1593C>T (p.His531=) | Hereditary spastic paraplegia 7 [RCV001446058]|SPG7-related disorder [RCV003970245]|not provided [RCV001200611] | likely benign | 16 | 89548043 | 89548043 | Human | 1 | name , alternate_id |
| 12836488 | CV375823 | single nucleotide variant | NM_003119.4(SPG7):c.1890G>A (p.Leu630=) | not specified [RCV000423475] | likely benign | 16 | 89553089 | 89553089 | Human | | name |
| 12842224 | CV375830 | single nucleotide variant | NM_003119.4(SPG7):c.2250G>A (p.Pro750=) | Hereditary spastic paraplegia 7 [RCV003507277]|not provided [RCV001720125] | likely benign | 16 | 89556955 | 89556955 | Human | 1 | name |
| 597839739 | CV3758410 | single nucleotide variant | NM_003119.4(SPG7):c.1905G>T (p.Ser635=) | Hereditary spastic paraplegia 7 [RCV005086245] | likely benign | 16 | 89553104 | 89553104 | Human | 1 | name |
| 12838731 | CV377977 | single nucleotide variant | NM_003119.4(SPG7):c.1953G>A (p.Leu651=) | not specified [RCV000427495] | likely benign | 16 | 89553810 | 89553810 | Human | | name |
| 597852230 | CV3824754 | single nucleotide variant | NM_003119.4(SPG7):c.158C>G (p.Ala53Gly) | Hereditary spastic paraplegia 7 [RCV005173793] | uncertain significance | 16 | 89508575 | 89508575 | Human | 1 | name |
| 597957071 | CV3838413 | single nucleotide variant | NM_003119.4(SPG7):c.1716G>A (p.Ala572=) | Hereditary spastic paraplegia 7 [RCV005191788] | likely benign | 16 | 89550546 | 89550546 | Human | 1 | name |
| 597922432 | CV3843248 | single nucleotide variant | NM_003119.4(SPG7):c.1806C>T (p.Ala602=) | Hereditary spastic paraplegia 7 [RCV005184540] | likely benign | 16 | 89553005 | 89553005 | Human | 1 | name |
| 597918920 | CV3861621 | single nucleotide variant | NM_003119.4(SPG7):c.1242C>T (p.Gly414=) | Hereditary spastic paraplegia 7 [RCV005204777] | likely benign | 16 | 89532554 | 89532554 | Human | 1 | name |
| 598227336 | CV3894495 | single nucleotide variant | NM_003119.4(SPG7):c.2010C>T (p.Gly670=) | not provided [RCV005257738] | uncertain significance | 16 | 89553867 | 89553867 | Human | | name |
| 598262942 | CV3919191 | single nucleotide variant | NM_003119.4(SPG7):c.116G>C (p.Arg39Thr) | Inborn genetic diseases [RCV005280345] | uncertain significance | 16 | 89508533 | 89508533 | Human | 1 | name |
| 598178325 | CV4008425 | single nucleotide variant | NM_003119.4(SPG7):c.259A>G (p.Asn87Asp) | Hereditary spastic paraplegia 7 [RCV005393944] | uncertain significance | 16 | 89510565 | 89510565 | Human | 1 | name |
| 12897927 | CV401362 | single nucleotide variant | NM_003119.4(SPG7):c.185G>A (p.Ser62Asn) | Hereditary spastic paraplegia 7 [RCV000469479]|not provided [RCV000591290] | uncertain significance | 16 | 89510491 | 89510491 | Human | 1 | name |
| 616937992 | CV4014759 | single nucleotide variant | NM_003119.4(SPG7):c.188T>C (p.Leu63Ser) | not provided [RCV005411775] | uncertain significance | 16 | 89510494 | 89510494 | Human | | name |
| 12897625 | CV402138 | single nucleotide variant | NM_003119.4(SPG7):c.2142C>T (p.Thr714=) | Hereditary spastic paraplegia 7 [RCV001439834]|not provided [RCV000465167] | likely benign | 16 | 89554524 | 89554524 | Human | 1 | name |
| 13481813 | CV466849 | single nucleotide variant | NM_003119.4(SPG7):c.1644C>T (p.Ala548=) | Hereditary spastic paraplegia 7 [RCV000551595]|not provided [RCV004704069]|not specified [RCV000615515] | likely benign | 16 | 89548094 | 89548094 | Human | 1 | name |
| 13533942 | CV505677 | single nucleotide variant | NM_003119.4(SPG7):c.1929C>T (p.Val643=) | not specified [RCV000601795] | likely benign | 16 | 89553128 | 89553128 | Human | | name |
| 13525889 | CV505860 | single nucleotide variant | NM_003119.4(SPG7):c.1068G>A (p.Thr356=) | Hereditary spastic paraplegia 7 [RCV002528701]|not specified [RCV000603521] | likely benign | 16 | 89531984 | 89531984 | Human | 1 | name |
| 13526951 | CV505868 | single nucleotide variant | NM_003119.4(SPG7):c.2178G>A (p.Gln726=) | not specified [RCV000604811] | likely benign | 16 | 89554560 | 89554560 | Human | | name |
| 13536796 | CV506113 | single nucleotide variant | NM_003119.4(SPG7):c.2298C>G (p.Ala766=) | Hereditary spastic paraplegia 7 [RCV001439836]|not specified [RCV000609510] | likely benign | 16 | 89557003 | 89557003 | Human | 1 | name |
| 13528027 | CV506632 | single nucleotide variant | NM_003119.4(SPG7):c.1014C>T (p.Gly338=) | Hereditary spastic paraplegia 7 [RCV005091738]|not specified [RCV000599948] | likely benign | 16 | 89531930 | 89531930 | Human | 1 | name |
| 13536163 | CV506633 | single nucleotide variant | NM_003119.4(SPG7):c.1197C>T (p.Ala399=) | Hereditary spastic paraplegia 7 [RCV003507302]|not provided [RCV000865851] | likely benign | 16 | 89532509 | 89532509 | Human | 1 | name |
| 13813536 | CV568462 | microsatellite | NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup) | Hereditary spastic paraplegia 7 [RCV000704426]|Hereditary spastic paraplegia [RCV001849069]|Optic atrophy [RCV004817941]|Retinal dystrophy [RCV004817940]|not provided [RCV000761967] | uncertain significance | 16 | 89508424 | 89508425 | Human | | name |
| 13801769 | CV577603 | single nucleotide variant | NM_003119.4(SPG7):c.1053C>T (p.Pro351=) | Hereditary spastic paraplegia 7 [RCV001413865]|SPG7-related disorder [RCV003945733]|not provided [RCV000713478]|not specified [RCV001644782] | likely benign | 16 | 89531969 | 89531969 | Human | 1 | name , alternate_id |
| 14712930 | CV645144 | single nucleotide variant | NM_003119.4(SPG7):c.161A>G (p.Glu54Gly) | Hereditary spastic paraplegia 7 [RCV000791714]|not provided [RCV003334009] | uncertain significance | 16 | 89508578 | 89508578 | Human | 1 | name |
| 14702337 | CV645147 | single nucleotide variant | NM_003119.4(SPG7):c.1596G>A (p.Ala532=) | Hereditary spastic paraplegia 7 [RCV000823549] | likely benign|uncertain significance | 16 | 89548046 | 89548046 | Human | 1 | name |
| 15130881 | CV684635 | single nucleotide variant | NM_003119.4(SPG7):c.1275C>T (p.Ser425=) | Hereditary spastic paraplegia 7 [RCV000863512]|not provided [RCV004705807] | likely benign | 16 | 89532587 | 89532587 | Human | 1 | name |
| 15148336 | CV688681 | single nucleotide variant | NM_003119.4(SPG7):c.1812G>A (p.Leu604=) | Hereditary spastic paraplegia 7 [RCV000866643] | likely benign | 16 | 89553011 | 89553011 | Human | 1 | name |
| 15124716 | CV693974 | single nucleotide variant | NM_003119.4(SPG7):c.1026A>G (p.Pro342=) | not provided [RCV000874821] | likely benign | 16 | 89531942 | 89531942 | Human | | name |
| 15132127 | CV693975 | single nucleotide variant | NM_003119.4(SPG7):c.1092G>A (p.Thr364=) | Hereditary spastic paraplegia 7 [RCV001473208] | likely benign | 16 | 89532008 | 89532008 | Human | 1 | name |
| 15129466 | CV693976 | single nucleotide variant | NM_003119.4(SPG7):c.1740G>A (p.Leu580=) | not provided [RCV000875651] | likely benign | 16 | 89550570 | 89550570 | Human | | name |
| 15176593 | CV726948 | single nucleotide variant | NM_003119.4(SPG7):c.2046C>T (p.Gly682=) | not provided [RCV000884618] | likely benign | 16 | 89553903 | 89553903 | Human | | name |
| 15124228 | CV740524 | single nucleotide variant | NM_003119.4(SPG7):c.1911A>T (p.Ala637=) | not provided [RCV000896549] | likely benign | 16 | 89553110 | 89553110 | Human | | name |
| 15109020 | CV755562 | single nucleotide variant | NM_003119.4(SPG7):c.1254C>T (p.Ser418=) | Hereditary spastic paraplegia 7 [RCV002542140] | likely benign | 16 | 89532566 | 89532566 | Human | 1 | name |
| 15184499 | CV771205 | single nucleotide variant | NM_003119.4(SPG7):c.1266C>G (p.Ser422=) | Hereditary spastic paraplegia 7 [RCV001485260] | likely benign | 16 | 89532578 | 89532578 | Human | 1 | name |
| 15113712 | CV785443 | single nucleotide variant | NM_003119.4(SPG7):c.1005C>T (p.Leu335=) | Hereditary spastic paraplegia 7 [RCV001466772] | likely benign | 16 | 89531921 | 89531921 | Human | 1 | name |
| 15127145 | CV785444 | single nucleotide variant | NM_003119.4(SPG7):c.1191C>G (p.Ala397=) | Hereditary spastic paraplegia 7 [RCV000980497] | likely benign | 16 | 89532503 | 89532503 | Human | 1 | name |
| 21071495 | CV793652 | single nucleotide variant | NM_003119.4(SPG7):c.152A>T (p.Asp51Val) | not provided [RCV000993071] | uncertain significance | 16 | 89508569 | 89508569 | Human | | name |
| 21075487 | CV797456 | single nucleotide variant | NM_003119.4(SPG7):c.297C>A (p.Phe99Leu) | not provided [RCV000996401] | uncertain significance | 16 | 89512958 | 89512958 | Human | | name |
| 21075493 | CV797462 | single nucleotide variant | NM_003119.4(SPG7):c.1599G>A (p.Ala533=) | Hereditary spastic paraplegia 7 [RCV001499192]|not provided [RCV000996410]|not specified [RCV001664597] | likely benign|uncertain significance | 16 | 89548049 | 89548049 | Human | 1 | name |
| 21075494 | CV797463 | single nucleotide variant | NM_003119.4(SPG7):c.1929C>A (p.Val643=) | Hereditary spastic paraplegia 7 [RCV002550694]|not provided [RCV000996412] | uncertain significance | 16 | 89553128 | 89553128 | Human | 1 | name |
| 28878018 | CV860324 | single nucleotide variant | NM_003119.4(SPG7):c.182A>G (p.Gln61Arg) | Hereditary spastic paraplegia 7 [RCV001196946]|not provided [RCV001090549] | uncertain significance | 16 | 89508599 | 89508599 | Human | 1 | name |
| 28882367 | CV876184 | single nucleotide variant | NM_003119.4(SPG7):c.1149A>T (p.Gly383=) | Hereditary spastic paraplegia 7 [RCV001118112] | uncertain significance | 16 | 89532065 | 89532065 | Human | 1 | name |
| 28882375 | CV876186 | single nucleotide variant | NM_003119.4(SPG7):c.1236G>A (p.Ala412=) | Hereditary spastic paraplegia 7 [RCV001118114] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89532548 | 89532548 | Human | 1 | name |
| 28882377 | CV876187 | single nucleotide variant | NM_003119.4(SPG7):c.1257C>G (p.Thr419=) | Hereditary spastic paraplegia 7 [RCV001118115] | uncertain significance | 16 | 89532569 | 89532569 | Human | 1 | name |
| 28882381 | CV876188 | single nucleotide variant | NM_003119.4(SPG7):c.1266C>T (p.Ser422=) | Hereditary spastic paraplegia 7 [RCV001118116] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89532578 | 89532578 | Human | 1 | name |
| 28887532 | CV876189 | single nucleotide variant | NM_003119.4(SPG7):c.1354C>T (p.Leu452=) | Hereditary spastic paraplegia 7 [RCV001119655] | uncertain significance | 16 | 89544677 | 89544677 | Human | 1 | name |
| 28882736 | CV876193 | single nucleotide variant | NM_003119.4(SPG7):c.2274C>T (p.Ile758=) | Hereditary spastic paraplegia 7 [RCV001118226] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89556979 | 89556979 | Human | 1 | name |
| 28882739 | CV876194 | single nucleotide variant | NM_003119.4(SPG7):c.2283G>A (p.Gln761=) | Hereditary spastic paraplegia 7 [RCV001118227] | uncertain significance | 16 | 89556988 | 89556988 | Human | 1 | name |
| 28882743 | CV876195 | single nucleotide variant | NM_003119.4(SPG7):c.2370G>A (p.Glu790=) | Hereditary spastic paraplegia 7 [RCV001118228]|not provided [RCV001530872] | likely benign|uncertain significance | 16 | 89557075 | 89557075 | Human | 1 | name |
| 28882746 | CV876196 | single nucleotide variant | NM_003119.4(SPG7):c.2373G>A (p.Pro791=) | Hereditary spastic paraplegia 7 [RCV001118229] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89557078 | 89557078 | Human | 1 | name |
| 38466210 | CV937664 | duplication | NM_003119.4(SPG7):c.934dup (p.Ala312fs) | Hereditary spastic paraplegia 7 [RCV001201827]|not provided [RCV001289255] | pathogenic | 16 | 89530753 | 89530754 | Human | 1 | name |
| 38471655 | CV949640 | deletion | NM_003119.4(SPG7):c.596del (p.Gly199fs) | Hereditary spastic paraplegia 7 [RCV001231276] | pathogenic | 16 | 89524224 | 89524224 | Human | 1 | name |
| 38490879 | CV957925 | single nucleotide variant | NM_003119.4(SPG7):c.1281G>A (p.Thr427=) | Hereditary spastic paraplegia 7 [RCV001239104] | likely benign|uncertain significance | 16 | 89532593 | 89532593 | Human | 1 | name |
| 38597987 | CV964463 | single nucleotide variant | NM_003119.4(SPG7):c.164C>A (p.Ala55Asp) | Hereditary spastic paraplegia 7 [RCV001253297] | uncertain significance | 16 | 89508581 | 89508581 | Human | 1 | name |
| 126730473 | CV1000974 | single nucleotide variant | NM_003119.4(SPG7):c.614G>A (p.Arg205Gln) | not provided [RCV001310345] | uncertain significance | 16 | 89524243 | 89524243 | Human | | name |
| 126730500 | CV1000979 | deletion | NM_003119.4(SPG7):c.1998del (p.Met667fs) | Hereditary spastic paraplegia 7 [RCV004815326]|not provided [RCV001310351] | likely pathogenic | 16 | 89553853 | 89553853 | Human | 1 | name |
| 150447323 | CV1015242 | deletion | NM_003119.4(SPG7):c.73_80del (p.Pro25fs) | Hereditary spastic paraplegia 7 [RCV001647143] | pathogenic | 16 | 89508489 | 89508496 | Human | 1 | name |
| 126725145 | CV1032988 | single nucleotide variant | NM_003119.4(SPG7):c.529A>G (p.Lys177Glu) | Hereditary spastic paraplegia 7 [RCV001348056] | uncertain significance | 16 | 89524158 | 89524158 | Human | 1 | name |
| 126909429 | CV1036682 | single nucleotide variant | NM_003119.4(SPG7):c.454A>G (p.Met152Val) | Hereditary spastic paraplegia 7 [RCV001353162]|not provided [RCV002070220] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89524083 | 89524083 | Human | 1 | name |
| 126916757 | CV1049968 | single nucleotide variant | NM_003119.4(SPG7):c.392G>A (p.Arg131His) | Hereditary spastic paraplegia 7 [RCV001360768] | uncertain significance | 16 | 89524021 | 89524021 | Human | 1 | name |
| 126924114 | CV1049969 | single nucleotide variant | NM_003119.4(SPG7):c.547G>A (p.Val183Ile) | Hereditary spastic paraplegia 7 [RCV001366647]|not provided [RCV004692646] | likely benign|uncertain significance | 16 | 89524176 | 89524176 | Human | 1 | name |
| 127288817 | CV1152744 | single nucleotide variant | NM_003119.4(SPG7):c.323A>G (p.Gln108Arg) | not provided [RCV001508797] | uncertain significance | 16 | 89512984 | 89512984 | Human | | name |
| 150551069 | CV1292464 | single nucleotide variant | NM_003119.4(SPG7):c.359C>T (p.Ala120Val) | Hereditary spastic paraplegia 7 [RCV003507384]|not provided [RCV001754071] | uncertain significance | 16 | 89513020 | 89513020 | Human | 1 | name |
| 150548855 | CV1293939 | single nucleotide variant | NM_003119.4(SPG7):c.416G>A (p.Arg139Gln) | Hereditary spastic paraplegia 7 [RCV002539900]|not provided [RCV001764778] | uncertain significance | 16 | 89524045 | 89524045 | Human | 1 | name |
| 150551773 | CV1295231 | single nucleotide variant | NM_003119.4(SPG7):c.313A>T (p.Arg105Trp) | not provided [RCV001754524] | uncertain significance | 16 | 89512974 | 89512974 | Human | | name |
| 150551121 | CV1297188 | single nucleotide variant | NM_003119.4(SPG7):c.601G>A (p.Val201Met) | SPG7-related disorder [RCV003900865]|not provided [RCV001766870] | uncertain significance | 16 | 89524230 | 89524230 | Human | 1 | name , alternate_id |
| 150546847 | CV1313926 | single nucleotide variant | NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) | Hereditary spastic paraplegia 7 [RCV001785019]|not provided [RCV004809673] | pathogenic|likely pathogenic | 16 | 89524044 | 89524044 | Human | 1 | name |
| 151753816 | CV1335844 | single nucleotide variant | NM_003119.4(SPG7):c.706G>A (p.Glu236Lys) | Hereditary spastic paraplegia [RCV001848244] | uncertain significance | 16 | 89526416 | 89526416 | Human | 1 | name |
| 151731590 | CV1335845 | single nucleotide variant | NM_003119.4(SPG7):c.878C>T (p.Ala293Val) | Hereditary spastic paraplegia 7 [RCV001885412]|Hereditary spastic paraplegia [RCV001848245] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89530699 | 89530699 | Human | 2 | name |
| 151863889 | CV1374508 | single nucleotide variant | NM_003119.4(SPG7):c.971T>C (p.Phe324Ser) | Hereditary spastic paraplegia 7 [RCV001884295] | likely pathogenic|uncertain significance | 16 | 89530792 | 89530792 | Human | 1 | name |
| 151856995 | CV1377528 | single nucleotide variant | NM_003119.4(SPG7):c.682G>A (p.Ala228Thr) | Hereditary spastic paraplegia 7 [RCV001923520] | uncertain significance | 16 | 89526392 | 89526392 | Human | 1 | name |
| 151859332 | CV1389597 | deletion | NM_003119.4(SPG7):c.1053del (p.Gly352fs) | Hereditary spastic paraplegia 7 [RCV001905081] | pathogenic|likely pathogenic | 16 | 89531963 | 89531963 | Human | 1 | name |
| 151708860 | CV1414571 | single nucleotide variant | NM_003119.4(SPG7):c.847G>A (p.Gly283Arg) | Hereditary spastic paraplegia 7 [RCV001870698] | uncertain significance | 16 | 89529565 | 89529565 | Human | 1 | name |
| 151787826 | CV1419602 | single nucleotide variant | NM_003119.4(SPG7):c.619C>T (p.Arg207Trp) | Hereditary spastic paraplegia 7 [RCV001951740]|Retinal dystrophy [RCV004816837]|SPG7-related disorder [RCV004753451]|not provided [RCV004793657] | uncertain significance | 16 | 89526329 | 89526329 | Human | 3 | name , alternate_id |
| 8692975 | CV142940 | single nucleotide variant | NM_003119.4(SPG7):c.881G>A (p.Arg294His) | Hereditary spastic paraplegia 7 [RCV001001627]|not provided [RCV000713488]|not specified [RCV000128198] | benign | 16 | 89530702 | 89530702 | Human | 1 | name |
| 151818002 | CV1441282 | single nucleotide variant | NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe) | Hereditary spastic paraplegia 7 [RCV001933866] | uncertain significance | 16 | 89529485 | 89529485 | Human | 1 | name |
| 151850344 | CV1452084 | single nucleotide variant | NM_003119.4(SPG7):c.764T>A (p.Leu255Gln) | Hereditary spastic paraplegia 7 [RCV002016493] | uncertain significance | 16 | 89529482 | 89529482 | Human | 1 | name |
| 151850885 | CV1452181 | single nucleotide variant | NM_003119.4(SPG7):c.560C>T (p.Pro187Leu) | Hereditary spastic paraplegia 7 [RCV002016568] | uncertain significance | 16 | 89524189 | 89524189 | Human | 1 | name |
| 151781445 | CV1458306 | deletion | NM_003119.4(SPG7):c.1124del (p.Gly375fs) | Hereditary spastic paraplegia 7 [RCV001951115] | pathogenic | 16 | 89532039 | 89532039 | Human | 1 | name |
| 151811799 | CV1515716 | single nucleotide variant | NM_003119.4(SPG7):c.829A>T (p.Met277Leu) | Hereditary spastic paraplegia 7 [RCV002012510] | uncertain significance | 16 | 89529547 | 89529547 | Human | 1 | name |
| 152046088 | CV1670382 | single nucleotide variant | NM_003119.4(SPG7):c.784G>C (p.Ala262Pro) | Hereditary spastic paraplegia 7 [RCV002225234] | uncertain significance | 16 | 89529502 | 89529502 | Human | 1 | name |
| 156045815 | CV1868702 | single nucleotide variant | NM_003119.4(SPG7):c.375A>C (p.Glu125Asp) | Hereditary spastic paraplegia 7 [RCV003052821] | uncertain significance | 16 | 89513036 | 89513036 | Human | 1 | name |
| 156169290 | CV1874008 | single nucleotide variant | NM_003119.4(SPG7):c.355A>C (p.Lys119Gln) | Hereditary spastic paraplegia 7 [RCV003083178] | uncertain significance | 16 | 89513016 | 89513016 | Human | 1 | name |
| 156393977 | CV1876277 | single nucleotide variant | NM_003119.4(SPG7):c.967G>A (p.Glu323Lys) | Hereditary spastic paraplegia 7 [RCV003068365] | uncertain significance | 16 | 89530788 | 89530788 | Human | 1 | name |
| 156316679 | CV1879520 | single nucleotide variant | NM_003119.4(SPG7):c.696G>T (p.Glu232Asp) | Hereditary spastic paraplegia 7 [RCV003062789] | uncertain significance | 16 | 89526406 | 89526406 | Human | 1 | name |
| 156033019 | CV1889925 | single nucleotide variant | NM_003119.4(SPG7):c.730T>G (p.Ser244Ala) | Hereditary spastic paraplegia 7 [RCV003078191] | uncertain significance | 16 | 89526440 | 89526440 | Human | 1 | name |
| 156370700 | CV1905311 | single nucleotide variant | NM_003119.4(SPG7):c.495T>G (p.Ile165Met) | Hereditary spastic paraplegia 7 [RCV003092401] | uncertain significance | 16 | 89524124 | 89524124 | Human | 1 | name |
| 156448451 | CV1950730 | single nucleotide variant | NM_003119.4(SPG7):c.389G>A (p.Arg130His) | Hereditary spastic paraplegia 7 [RCV003120013]|Inborn genetic diseases [RCV004673839] | uncertain significance | 16 | 89524018 | 89524018 | Human | 2 | name |
| 156188028 | CV1961412 | deletion | NM_003119.4(SPG7):c.1170del (p.Arg391fs) | Hereditary spastic paraplegia 7 [RCV002574321] | pathogenic | 16 | 89532482 | 89532482 | Human | 1 | name |
| 156217683 | CV1963422 | single nucleotide variant | NM_003119.4(SPG7):c.353G>A (p.Gly118Glu) | Hereditary spastic paraplegia 7 [RCV002582708]|Inborn genetic diseases [RCV002575399] | uncertain significance | 16 | 89513014 | 89513014 | Human | 2 | name |
| 156244009 | CV1992681 | single nucleotide variant | NM_003119.4(SPG7):c.931G>A (p.Val311Met) | Hereditary spastic paraplegia 7 [RCV002627232] | uncertain significance | 16 | 89530752 | 89530752 | Human | 1 | name |
| 155943614 | CV2062030 | single nucleotide variant | NM_003119.4(SPG7):c.439G>A (p.Val147Ile) | Hereditary spastic paraplegia 7 [RCV002815850] | uncertain significance | 16 | 89524068 | 89524068 | Human | 1 | name |
| 10406775 | CV208318 | duplication | NM_003119.4(SPG7):c.861dup (p.Asn288Ter) | Hereditary spastic paraplegia 7 [RCV000194085]|Mitochondrial disease [RCV000508824]|not provided [RCV000199034] | pathogenic | 16 | 89529575 | 89529576 | Human | 2 | name |
| 156163093 | CV2091507 | single nucleotide variant | NM_003119.4(SPG7):c.947A>G (p.Glu316Gly) | Hereditary spastic paraplegia 7 [RCV002891077] | uncertain significance | 16 | 89530768 | 89530768 | Human | 1 | name |
| 156196295 | CV2095359 | single nucleotide variant | NM_003119.4(SPG7):c.946G>A (p.Glu316Lys) | Hereditary spastic paraplegia 7 [RCV002917628] | uncertain significance | 16 | 89530767 | 89530767 | Human | 1 | name |
| 156159535 | CV2096803 | duplication | NM_003119.4(SPG7):c.1477dup (p.Leu493fs) | Hereditary spastic paraplegia 7 [RCV002872605] | pathogenic | 16 | 89546683 | 89546684 | Human | 1 | name |
| 10411455 | CV211743 | single nucleotide variant | NM_003119.4(SPG7):c.347C>T (p.Ser116Leu) | not provided [RCV001722097] | likely benign|uncertain significance | 16 | 89513008 | 89513008 | Human | | name |
| 10409825 | CV211744 | single nucleotide variant | NM_003119.4(SPG7):c.388C>T (p.Arg130Cys) | not provided [RCV000512694] | uncertain significance | 16 | 89524017 | 89524017 | Human | | name |
| 10410317 | CV211745 | single nucleotide variant | NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) | Hereditary spastic paraplegia 7 [RCV001853199]|not specified [RCV000197933] | likely benign|uncertain significance | 16 | 89524032 | 89524032 | Human | 1 | name |
| 10411067 | CV211746 | single nucleotide variant | NM_003119.4(SPG7):c.412T>A (p.Tyr138Asn) | not provided [RCV000199491] | uncertain significance | 16 | 89524041 | 89524041 | Human | | name |
| 10409183 | CV211747 | single nucleotide variant | NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) | Hereditary spastic paraplegia 7 [RCV000640982]|not provided [RCV000195598] | uncertain significance | 16 | 89524042 | 89524042 | Human | 1 | name |
| 10410083 | CV211748 | single nucleotide variant | NM_003119.4(SPG7):c.524T>C (p.Leu175Pro) | not provided [RCV000197458] | likely pathogenic | 16 | 89524153 | 89524153 | Human | | name |
| 10411334 | CV211749 | single nucleotide variant | NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) | Hereditary spastic paraplegia 7 [RCV000473038]|not provided [RCV000725649]|not specified [RCV003330570] | uncertain significance | 16 | 89524213 | 89524213 | Human | 1 | name |
| 10409271 | CV211750 | single nucleotide variant | NM_003119.4(SPG7):c.703A>G (p.Ile235Val) | Hereditary spastic paraplegia 7 [RCV001853200]|not provided [RCV000195778] | uncertain significance | 16 | 89526413 | 89526413 | Human | 1 | name |
| 10410191 | CV211751 | single nucleotide variant | NM_003119.4(SPG7):c.782C>T (p.Thr261Met) | Hereditary spastic paraplegia 7 [RCV001039520]|Inborn genetic diseases [RCV002515438]|SPG7-related disorder [RCV004752791]|not provided [RCV000197675] | uncertain significance | 16 | 89529500 | 89529500 | Human | 2 | name , alternate_id |
| 10409709 | CV211753 | single nucleotide variant | NM_003119.4(SPG7):c.941T>C (p.Met314Thr) | not provided [RCV000196674] | uncertain significance | 16 | 89530762 | 89530762 | Human | | name |
| 10410616 | CV211754 | single nucleotide variant | NM_003119.4(SPG7):c.964C>T (p.Arg322Cys) | Hereditary spastic paraplegia 7 [RCV002942610] | likely pathogenic|uncertain significance | 16 | 89530785 | 89530785 | Human | 1 | name |
| 10409121 | CV211773 | deletion | NM_003119.4(SPG7):c.2189del (p.Asn730fs) | not provided [RCV000195477] | pathogenic | 16 | 89556892 | 89556892 | Human | | name |
| 156095123 | CV2139554 | single nucleotide variant | NM_003119.4(SPG7):c.740G>A (p.Arg247Gln) | Hereditary spastic paraplegia 7 [RCV002979762]|not specified [RCV003479458] | uncertain significance | 16 | 89526450 | 89526450 | Human | 1 | name |
| 155956641 | CV2144079 | single nucleotide variant | NM_003119.4(SPG7):c.395A>C (p.Glu132Ala) | Hereditary spastic paraplegia 7 [RCV002994932] | uncertain significance | 16 | 89524024 | 89524024 | Human | 1 | name |
| 10767698 | CV222537 | single nucleotide variant | NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) | Hereditary spastic paraplegia 7 [RCV000205153] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89526366 | 89526366 | Human | 1 | name |
| 155965411 | CV2261777 | single nucleotide variant | NM_003119.4(SPG7):c.314G>A (p.Arg105Lys) | Inborn genetic diseases [RCV002817221] | uncertain significance | 16 | 89512975 | 89512975 | Human | 1 | name |
| 156290286 | CV2299480 | single nucleotide variant | NM_003119.4(SPG7):c.635A>G (p.Tyr212Cys) | Inborn genetic diseases [RCV002878824] | uncertain significance | 16 | 89526345 | 89526345 | Human | 1 | name |
| 243061391 | CV2408928 | single nucleotide variant | NM_003119.4(SPG7):c.535G>C (p.Glu179Gln) | Hereditary spastic paraplegia 7 [RCV003138645] | uncertain significance | 16 | 89524164 | 89524164 | Human | 1 | name |
| 243061394 | CV2408931 | single nucleotide variant | NM_003119.4(SPG7):c.872A>G (p.Lys291Arg) | Hereditary spastic paraplegia 7 [RCV003138648]|Inborn genetic diseases [RCV004963561]|not provided [RCV005402014] | uncertain significance | 16 | 89530693 | 89530693 | Human | 2 | name |
| 329351060 | CV2477890 | single nucleotide variant | NM_003119.4(SPG7):c.544C>T (p.Arg182Cys) | Hereditary spastic paraplegia 7 [RCV003507489]|not provided [RCV003224003] | uncertain significance | 16 | 89524173 | 89524173 | Human | 1 | name |
| 11560267 | CV260142 | deletion | NM_003119.4(SPG7):c.1617del (p.Val540fs) | Hereditary spastic paraplegia 7 [RCV001855011]|Hereditary spastic paraplegia [RCV001848041]|not provided [RCV000256054] | pathogenic | 16 | 89548066 | 89548066 | Human | 2 | name |
| 11578209 | CV264839 | single nucleotide variant | NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) | Hereditary spastic paraplegia 7 [RCV001391423]|Inborn genetic diseases [RCV002519056]|Optic atrophy [RCV004786648]|not provided [RCV000276524] | pathogenic | 16 | 89526389 | 89526389 | Human | 4 | name |
| 329952904 | CV2670242 | single nucleotide variant | NM_003119.4(SPG7):c.997C>T (p.Arg333Cys) | not provided [RCV003233452] | uncertain significance | 16 | 89531913 | 89531913 | Human | | name |
| 329952094 | CV2671583 | single nucleotide variant | NM_003119.4(SPG7):c.880C>G (p.Arg294Gly) | not provided [RCV003236979] | uncertain significance | 16 | 89530701 | 89530701 | Human | | name |
| 11578234 | CV269605 | single nucleotide variant | NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) | Hereditary spastic paraplegia 7 [RCV000276883]|Hereditary spastic paraplegia [RCV001848059]|SPG7-related disorder [RCV003409411]|not provided [RCV000725648] | pathogenic|conflicting interpretations of pathogenicity | 16 | 89526347 | 89526347 | Human | 2 | name , alternate_id |
| 401781243 | CV2726471 | single nucleotide variant | NM_003119.4(SPG7):c.321G>C (p.Lys107Asn) | Inborn genetic diseases [RCV003308517] | uncertain significance | 16 | 89512982 | 89512982 | Human | 1 | name |
| 401797509 | CV2742278 | single nucleotide variant | NM_003119.4(SPG7):c.698T>C (p.Leu233Pro) | not specified [RCV003324459] | uncertain significance | 16 | 89526408 | 89526408 | Human | | name |
| 401797511 | CV2742279 | deletion | NM_003119.4(SPG7):c.2379del (p.Trp793fs) | not specified [RCV003324460] | uncertain significance | 16 | 89557083 | 89557083 | Human | | name |
| 401897977 | CV2769905 | single nucleotide variant | NM_003119.4(SPG7):c.593C>T (p.Pro198Leu) | Inborn genetic diseases [RCV003376127] | uncertain significance | 16 | 89524222 | 89524222 | Human | 1 | name |
| 401913812 | CV2814585 | single nucleotide variant | NM_003119.4(SPG7):c.632T>C (p.Met211Thr) | not provided [RCV003428005] | uncertain significance | 16 | 89526342 | 89526342 | Human | | name |
| 401940479 | CV2839322 | single nucleotide variant | NM_003119.4(SPG7):c.746G>A (p.Gly249Glu) | Hereditary spastic paraplegia 7 [RCV003448880] | uncertain significance | 16 | 89526456 | 89526456 | Human | 1 | name |
| 401961026 | CV2844430 | single nucleotide variant | NM_003119.4(SPG7):c.405C>A (p.Asp135Glu) | not provided [RCV003480225] | uncertain significance | 16 | 89524034 | 89524034 | Human | | name |
| 402490102 | CV2857284 | single nucleotide variant | NM_003119.4(SPG7):c.463C>A (p.Leu155Met) | Hereditary spastic paraplegia 7 [RCV003507540] | uncertain significance | 16 | 89524092 | 89524092 | Human | 1 | name |
| 402497448 | CV2869463 | single nucleotide variant | NM_003119.4(SPG7):c.950C>T (p.Ala317Val) | Hereditary spastic paraplegia 7 [RCV003508366] | uncertain significance | 16 | 89530771 | 89530771 | Human | 1 | name |
| 402501472 | CV2883870 | single nucleotide variant | NM_003119.4(SPG7):c.942G>C (p.Met314Ile) | Hereditary spastic paraplegia 7 [RCV003508773] | uncertain significance | 16 | 89530763 | 89530763 | Human | 1 | name |
| 402502613 | CV2895277 | single nucleotide variant | NM_003119.4(SPG7):c.724C>A (p.Pro242Thr) | Hereditary spastic paraplegia 7 [RCV003508902] | uncertain significance | 16 | 89526434 | 89526434 | Human | 1 | name |
| 402487766 | CV2921430 | single nucleotide variant | NM_003119.4(SPG7):c.347C>G (p.Ser116Trp) | Hereditary spastic paraplegia 7 [RCV003507180] | uncertain significance | 16 | 89513008 | 89513008 | Human | 1 | name |
| 405124040 | CV3009257 | single nucleotide variant | NM_003119.4(SPG7):c.943C>T (p.His315Tyr) | Hereditary spastic paraplegia 7 [RCV003617423] | uncertain significance | 16 | 89530764 | 89530764 | Human | 1 | name |
| 405136364 | CV3054706 | single nucleotide variant | NM_003119.4(SPG7):c.598G>A (p.Ala200Thr) | Hereditary spastic paraplegia 7 [RCV003618805] | uncertain significance | 16 | 89524227 | 89524227 | Human | 1 | name |
| 405137324 | CV3065032 | single nucleotide variant | NM_003119.4(SPG7):c.620G>A (p.Arg207Gln) | Hereditary spastic paraplegia 7 [RCV003618947] | uncertain significance | 16 | 89526330 | 89526330 | Human | 1 | name |
| 405213034 | CV3127539 | single nucleotide variant | NM_003119.4(SPG7):c.970T>C (p.Phe324Leu) | Hereditary spastic paraplegia 7 [RCV003823587] | uncertain significance | 16 | 89530791 | 89530791 | Human | 1 | name |
| 402468804 | CV3174600 | single nucleotide variant | NM_003119.4(SPG7):c.826G>A (p.Gly276Arg) | Hereditary spastic paraplegia 7 [RCV003873710] | uncertain significance | 16 | 89529544 | 89529544 | Human | 1 | name |
| 405735485 | CV3323117 | single nucleotide variant | NM_003119.4(SPG7):c.633G>A (p.Met211Ile) | Inborn genetic diseases [RCV004464889] | uncertain significance | 16 | 89526343 | 89526343 | Human | 1 | name |
| 408394814 | CV3395397 | single nucleotide variant | NM_003119.4(SPG7):c.535G>T (p.Glu179Ter) | Hereditary spastic paraplegia 7 [RCV004765029] | likely pathogenic | 16 | 89524164 | 89524164 | Human | 1 | name |
| 408394828 | CV3395407 | duplication | NM_003119.4(SPG7):c.1075dup (p.Ala359fs) | Hereditary spastic paraplegia 7 [RCV004765039] | likely pathogenic | 16 | 89531989 | 89531990 | Human | 1 | name |
| 408394772 | CV3395408 | single nucleotide variant | NM_003119.4(SPG7):c.538G>A (p.Val180Met) | Hereditary spastic paraplegia 7 [RCV004765040] | uncertain significance | 16 | 89524167 | 89524167 | Human | 1 | name |
| 408394810 | CV3395446 | deletion | NM_003119.4(SPG7):c.1671del (p.Lys559fs) | Hereditary spastic paraplegia 7 [RCV004765078] | likely pathogenic | 16 | 89550500 | 89550500 | Human | 1 | name |
| 405871979 | CV3398170 | single nucleotide variant | NM_003119.4(SPG7):c.421C>T (p.Arg141Trp) | not provided [RCV004575171] | uncertain significance | 16 | 89524050 | 89524050 | Human | | name |
| 596945328 | CV3401465 | single nucleotide variant | NM_003119.4(SPG7):c.851T>C (p.Phe284Ser) | Hereditary spastic paraplegia 7 [RCV004818485] | likely pathogenic | 16 | 89529569 | 89529569 | Human | 1 | name |
| 596945343 | CV3401474 | single nucleotide variant | NM_003119.4(SPG7):c.958G>T (p.Glu320Ter) | Hereditary spastic paraplegia 7 [RCV004818495] | pathogenic|likely pathogenic | 16 | 89530779 | 89530779 | Human | 1 | name |
| 596945345 | CV3401475 | deletion | NM_003119.4(SPG7):c.1676del (p.Lys559fs) | Hereditary spastic paraplegia 7 [RCV004818496] | likely pathogenic | 16 | 89550502 | 89550502 | Human | 1 | name |
| 596945350 | CV3401478 | deletion | NM_003119.4(SPG7):c.2164del (p.Leu722fs) | Hereditary spastic paraplegia 7 [RCV004818499] | likely pathogenic | 16 | 89554545 | 89554545 | Human | 1 | name |
| 596945442 | CV3401518 | duplication | NM_003119.4(SPG7):c.2212dup (p.Ile738fs) | Hereditary spastic paraplegia 7 [RCV004818539] | pathogenic | 16 | 89556916 | 89556917 | Human | 1 | name |
| 11616026 | CV342919 | single nucleotide variant | NM_003119.4(SPG7):c.308C>A (p.Thr103Asn) | Hereditary spastic paraplegia 7 [RCV000291284] | uncertain significance | 16 | 89512969 | 89512969 | Human | 1 | name |
| 11625299 | CV342925 | single nucleotide variant | NM_003119.4(SPG7):c.817C>T (p.Arg273Cys) | Hereditary spastic paraplegia 7 [RCV000396981] | uncertain significance | 16 | 89529535 | 89529535 | Human | 1 | name |
| 407525628 | CV3477818 | single nucleotide variant | NM_003119.4(SPG7):c.472C>T (p.Leu158Phe) | Inborn genetic diseases [RCV004679355] | uncertain significance | 16 | 89524101 | 89524101 | Human | 1 | name |
| 407477264 | CV3495087 | single nucleotide variant | NM_003119.4(SPG7):c.680G>A (p.Arg227Gln) | not specified [RCV004690989] | uncertain significance | 16 | 89526390 | 89526390 | Human | | name |
| 408386142 | CV3496738 | deletion | NM_003119.4(SPG7):c.1719del (p.His574fs) | Hereditary spastic paraplegia 7 [RCV004767691] | likely pathogenic | 16 | 89550547 | 89550547 | Human | 1 | name |
| 407573850 | CV3498188 | single nucleotide variant | NM_003119.4(SPG7):c.625G>A (p.Ala209Thr) | not specified [RCV004702177] | uncertain significance | 16 | 89526335 | 89526335 | Human | | name |
| 407573937 | CV3498286 | single nucleotide variant | NM_003119.4(SPG7):c.776G>A (p.Gly259Glu) | not specified [RCV004702760] | uncertain significance | 16 | 89529494 | 89529494 | Human | | name |
| 407574114 | CV3498463 | single nucleotide variant | NM_003119.4(SPG7):c.446C>T (p.Ala149Val) | not specified [RCV004702938] | uncertain significance | 16 | 89524075 | 89524075 | Human | | name |
| 408369143 | CV3502748 | single nucleotide variant | NM_003119.4(SPG7):c.859T>C (p.Phe287Leu) | not provided [RCV004723869] | uncertain significance | 16 | 89529577 | 89529577 | Human | | name |
| 408389422 | CV3524574 | single nucleotide variant | NM_003119.4(SPG7):c.663G>C (p.Lys221Asn) | Hereditary spastic paraplegia 7 [RCV005104954]|not provided [RCV004769469] | uncertain significance | 16 | 89526373 | 89526373 | Human | 1 | name |
| 596932987 | CV3539615 | single nucleotide variant | NM_003119.4(SPG7):c.616C>G (p.Pro206Ala) | not provided [RCV004794240] | uncertain significance | 16 | 89524245 | 89524245 | Human | | name |
| 596932989 | CV3539617 | single nucleotide variant | NM_003119.4(SPG7):c.965G>A (p.Arg322His) | not provided [RCV004794242] | uncertain significance | 16 | 89530786 | 89530786 | Human | | name |
| 597731637 | CV3607476 | single nucleotide variant | NM_003119.4(SPG7):c.551A>G (p.Gln184Arg) | Inborn genetic diseases [RCV004964098] | uncertain significance | 16 | 89524180 | 89524180 | Human | 1 | name |
| 12849384 | CV363853 | single nucleotide variant | NM_003119.4(SPG7):c.445G>A (p.Ala149Thr) | not provided [RCV000429046] | uncertain significance | 16 | 89524074 | 89524074 | Human | | name |
| 597758884 | CV3711979 | deletion | NM_003119.4(SPG7):c.2196del (p.Leu733fs) | Hereditary spastic paraplegia 7 [RCV005017900] | likely pathogenic | 16 | 89556900 | 89556900 | Human | 1 | name |
| 597860392 | CV3748669 | single nucleotide variant | NM_003119.4(SPG7):c.914G>C (p.Gly305Ala) | Hereditary spastic paraplegia 7 [RCV005067301] | uncertain significance | 16 | 89530735 | 89530735 | Human | 1 | name |
| 597965092 | CV3751086 | single nucleotide variant | NM_003119.4(SPG7):c.425T>C (p.Leu142Pro) | Hereditary spastic paraplegia 7 [RCV005082648] | uncertain significance | 16 | 89524054 | 89524054 | Human | 1 | name |
| 597900644 | CV3796388 | single nucleotide variant | NM_003119.4(SPG7):c.505G>A (p.Asp169Asn) | Hereditary spastic paraplegia 7 [RCV005152471] | uncertain significance | 16 | 89524134 | 89524134 | Human | 1 | name |
| 597970787 | CV3832595 | single nucleotide variant | NM_003119.4(SPG7):c.403G>T (p.Asp135Tyr) | Hereditary spastic paraplegia 7 [RCV005166674] | uncertain significance | 16 | 89524032 | 89524032 | Human | 1 | name |
| 597890912 | CV3839818 | single nucleotide variant | NM_003119.4(SPG7):c.683C>G (p.Ala228Gly) | Hereditary spastic paraplegia 7 [RCV005179710] | uncertain significance | 16 | 89526393 | 89526393 | Human | 1 | name |
| 597963091 | CV3841373 | single nucleotide variant | NM_003119.4(SPG7):c.694G>C (p.Glu232Gln) | Hereditary spastic paraplegia 7 [RCV005193476] | uncertain significance | 16 | 89526404 | 89526404 | Human | 1 | name |
| 597925008 | CV3863397 | deletion | NM_003119.4(SPG7):c.2326del (p.Glu776fs) | not provided [RCV005205722] | uncertain significance | 16 | 89557030 | 89557030 | Human | | name |
| 12897362 | CV401365 | duplication | NM_003119.4(SPG7):c.1053dup (p.Gly352fs) | Hereditary spastic paraplegia 7 [RCV000461092]|Hereditary spastic paraplegia [RCV000824802]|SPG7-related disorder [RCV003401491]|not provided [RCV000627428] | pathogenic | 16 | 89531962 | 89531963 | Human | 2 | name , alternate_id |
| 12897289 | CV401370 | duplication | NM_003119.4(SPG7):c.2096dup (p.Met699fs) | Hereditary spastic paraplegia 7 [RCV000460135]|SPG7-related disorder [RCV003902651]|not provided [RCV000489898] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 16 | 89553952 | 89553953 | Human | 1 | name , alternate_id |
| 12897375 | CV401888 | single nucleotide variant | NM_003119.4(SPG7):c.932T>A (p.Val311Glu) | Hereditary spastic paraplegia 7 [RCV000461245] | likely pathogenic|uncertain significance | 16 | 89530753 | 89530753 | Human | 1 | name |
| 13469818 | CV411589 | single nucleotide variant | NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) | Hereditary spastic paraplegia 7 [RCV003507282]|Hereditary spastic paraplegia [RCV000515979]|not provided [RCV000518245] | pathogenic|likely pathogenic | 16 | 89513037 | 89513037 | Human | 2 | name |
| 12913768 | CV422129 | single nucleotide variant | NM_003119.4(SPG7):c.865C>T (p.Gln289Ter) | not provided [RCV000494238] | likely pathogenic | 16 | 89530686 | 89530686 | Human | | name |
| 13480713 | CV441935 | single nucleotide variant | NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) | Hereditary spastic paraplegia 7 [RCV002527532]|Inborn genetic diseases [RCV003278862]|not specified [RCV000517366] | uncertain significance | 16 | 89512992 | 89512992 | Human | 2 | name |
| 13472270 | CV445679 | single nucleotide variant | NM_003119.4(SPG7):c.806G>A (p.Trp269Ter) | not provided [RCV000519087] | likely pathogenic | 16 | 89529524 | 89529524 | Human | | name |
| 13470806 | CV466843 | single nucleotide variant | NM_003119.4(SPG7):c.983T>C (p.Leu328Pro) | Hereditary spastic paraplegia 7 [RCV000546430] | uncertain significance | 16 | 89530804 | 89530804 | Human | 1 | name |
| 13532304 | CV512250 | single nucleotide variant | NM_003119.4(SPG7):c.347C>A (p.Ser116Ter) | Inborn genetic diseases [RCV000624073] | pathogenic | 16 | 89513008 | 89513008 | Human | 1 | name |
| 13592711 | CV513462 | deletion | NM_003119.4(SPG7):c.2271del (p.Met757fs) | Hereditary spastic paraplegia 7 [RCV000625997] | pathogenic|likely pathogenic | 16 | 89556976 | 89556976 | Human | 1 | name |
| 13611664 | CV514706 | deletion | NM_003119.4(SPG7):c.2070del (p.Phe691fs) | Hereditary spastic paraplegia 7 [RCV001380103]|not provided [RCV000627617] | pathogenic|likely pathogenic | 16 | 89553924 | 89553924 | Human | 1 | name |
| 13609966 | CV530390 | single nucleotide variant | NM_003119.4(SPG7):c.568G>A (p.Asp190Asn) | Hereditary spastic paraplegia 7 [RCV000640977] | uncertain significance | 16 | 89524197 | 89524197 | Human | 1 | name |
| 13817623 | CV570615 | single nucleotide variant | NM_003119.4(SPG7):c.898G>A (p.Gly300Arg) | Hereditary spastic paraplegia 7 [RCV000707135]|not provided [RCV001577546] | uncertain significance | 16 | 89530719 | 89530719 | Human | 1 | name |
| 13821343 | CV574210 | single nucleotide variant | NM_003119.4(SPG7):c.338A>G (p.Lys113Arg) | Hereditary spastic paraplegia 7 [RCV000695759]|Inborn genetic diseases [RCV004025252] | likely benign|uncertain significance | 16 | 89512999 | 89512999 | Human | 2 | name |
| 14693117 | CV620566 | deletion | NM_003119.4(SPG7):c.1102del (p.Val368fs) | Hereditary spastic paraplegia 7 [RCV000778483] | uncertain significance | 16 | 89532017 | 89532017 | Human | | name |
| 21075488 | CV797457 | single nucleotide variant | NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) | Hereditary spastic paraplegia 7 [RCV001858835]|not provided [RCV000996402] | uncertain significance | 16 | 89513034 | 89513034 | Human | 1 | name |
| 21075490 | CV797459 | single nucleotide variant | NM_003119.4(SPG7):c.818G>A (p.Arg273His) | Hereditary spastic paraplegia 7 [RCV005056731]|Spastic ataxia [RCV001644887]|not provided [RCV000996404] | likely benign|uncertain significance | 16 | 89529536 | 89529536 | Human | 3 | name |
| 28878027 | CV860325 | single nucleotide variant | NM_003119.4(SPG7):c.638G>A (p.Arg213Gln) | Hereditary spastic paraplegia 7 [RCV001228310]|Hereditary spastic paraplegia [RCV001847152]|Inborn genetic diseases [RCV004031224]|not provided [RCV001090550] | likely benign|uncertain significance | 16 | 89526348 | 89526348 | Human | 3 | name |
| 28881082 | CV860326 | duplication | NM_003119.4(SPG7):c.2216dup (p.Asn739fs) | Hereditary spastic paraplegia 7 [RCV001760064]|not provided [RCV001091058] | pathogenic | 16 | 89556918 | 89556919 | Human | 1 | name |
| 28893056 | CV876180 | single nucleotide variant | NM_003119.4(SPG7):c.517G>A (p.Glu173Lys) | Hereditary spastic paraplegia 7 [RCV001121553] | uncertain significance | 16 | 89524146 | 89524146 | Human | 1 | name |
| 28893059 | CV876181 | single nucleotide variant | NM_003119.4(SPG7):c.566G>A (p.Ser189Asn) | Hereditary spastic paraplegia 7 [RCV001121554]|not provided [RCV001759888] | uncertain significance | 16 | 89524195 | 89524195 | Human | 1 | name |
| 28877736 | CV876182 | single nucleotide variant | NM_003119.4(SPG7):c.734A>G (p.Tyr245Cys) | Hereditary spastic paraplegia 7 [RCV001116670] | uncertain significance | 16 | 89526444 | 89526444 | Human | 1 | name |
| 38487262 | CV928010 | single nucleotide variant | NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) | Hereditary spastic paraplegia 7 [RCV001220525]|not provided [RCV001819912] | pathogenic | 16 | 89526449 | 89526449 | Human | 1 | name |
| 38488869 | CV949639 | single nucleotide variant | NM_003119.4(SPG7):c.578A>G (p.Glu193Gly) | Hereditary spastic paraplegia 7 [RCV001238182]|Inborn genetic diseases [RCV004034571] | uncertain significance | 16 | 89524207 | 89524207 | Human | 2 | name |
| 127234040 | CV977137 | deletion | NM_003119.4(SPG7):c.39_63del (p.Gly14fs) | Hereditary spastic paraplegia 7 [RCV001391421] | pathogenic | 16 | 89508452 | 89508476 | Human | 1 | name |
| 127234045 | CV977138 | single nucleotide variant | NM_003119.4(SPG7):c.712A>T (p.Lys238Ter) | Hereditary spastic paraplegia 7 [RCV001391424] | pathogenic | 16 | 89526422 | 89526422 | Human | 1 | name |
| 150447328 | CV1015244 | single nucleotide variant | NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) | Hereditary spastic paraplegia 7 [RCV001647144] | likely pathogenic|conflicting interpretations of pathogenicity | 16 | 89553829 | 89553829 | Human | 1 | name |
| 150449819 | CV1202492 | single nucleotide variant | NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) | Hereditary spastic paraplegia 7 [RCV003771770]|Hereditary spastic paraplegia [RCV001847308]|not provided [RCV001585089] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89531970 | 89531970 | Human | 2 | name |
| 150514350 | CV1211963 | microsatellite | NM_003119.4(SPG7):c.1324+3816GGTGAGGCG[2] | not provided [RCV001599032] | benign | 16 | 89536452 | 89536460 | Human | | name |
| 150551078 | CV1292475 | single nucleotide variant | NM_003119.4(SPG7):c.1940C>T (p.Ala647Val) | Hereditary spastic paraplegia 7 [RCV005094921]|Hereditary spastic paraplegia [RCV001847324]|not provided [RCV001754082] | likely pathogenic|uncertain significance | 16 | 89553797 | 89553797 | Human | 2 | name |
| 150530115 | CV1293349 | single nucleotide variant | NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln) | Hereditary spastic paraplegia 7 [RCV002538743]|not provided [RCV001756569] | uncertain significance | 16 | 89532505 | 89532505 | Human | 1 | name |
| 150533595 | CV1294272 | single nucleotide variant | NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr) | Hereditary spastic paraplegia 7 [RCV001810307]|not provided [RCV001758290] | uncertain significance | 16 | 89556896 | 89556896 | Human | 1 | name |
| 150548812 | CV1294527 | single nucleotide variant | NM_003119.4(SPG7):c.2314G>T (p.Asp772Tyr) | not provided [RCV001752019] | uncertain significance | 16 | 89557019 | 89557019 | Human | | name |
| 150553230 | CV1298267 | single nucleotide variant | NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn) | Hereditary spastic paraplegia 7 [RCV003617936]|not provided [RCV001768881] | uncertain significance | 16 | 89556998 | 89556998 | Human | 1 | name |
| 150531335 | CV1299388 | single nucleotide variant | NM_003119.4(SPG7):c.1573T>C (p.Cys525Arg) | SPG7-related disorder [RCV004731171]|not provided [RCV001757081] | uncertain significance | 16 | 89548023 | 89548023 | Human | 1 | name , alternate_id |
| 150541653 | CV1301551 | single nucleotide variant | NM_003119.4(SPG7):c.1235C>T (p.Ala412Val) | Hereditary spastic paraplegia 7 [RCV002489782]|Retinal dystrophy [RCV004815621]|not provided [RCV001761017]|not specified [RCV003479347] | uncertain significance | 16 | 89532547 | 89532547 | Human | 3 | name |
| 150528118 | CV1301644 | single nucleotide variant | NM_003119.4(SPG7):c.2047C>T (p.Leu683Phe) | Hereditary spastic paraplegia 7 [RCV005095020]|not provided [RCV001755016] | uncertain significance | 16 | 89553904 | 89553904 | Human | 1 | name |
| 150533824 | CV1302107 | single nucleotide variant | NM_003119.4(SPG7):c.1613C>G (p.Thr538Ser) | not provided [RCV001758381] | uncertain significance | 16 | 89548063 | 89548063 | Human | | name |
| 150546820 | CV1302872 | single nucleotide variant | NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn) | Hereditary spastic paraplegia 7 [RCV001868560]|Inborn genetic diseases [RCV003289082]|not provided [RCV001763617] | uncertain significance | 16 | 89554530 | 89554530 | Human | 2 | name |
| 151355812 | CV1326996 | single nucleotide variant | NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro) | Hereditary spastic paraplegia 7 [RCV004764972]|not provided [RCV001822165] | pathogenic|likely pathogenic | 16 | 89531991 | 89531991 | Human | 1 | name |
| 151662530 | CV1330415 | single nucleotide variant | NM_003119.4(SPG7):c.1853C>G (p.Thr618Ser) | Spastic tetraparesis [RCV001823952] | uncertain significance | 16 | 89553052 | 89553052 | Human | 2 | name |
| 151662006 | CV1332839 | single nucleotide variant | NM_003119.4(SPG7):c.1976A>G (p.Tyr659Cys) | Hereditary spastic paraplegia 7 [RCV005095297]|Inborn genetic diseases [RCV004968313]|not provided [RCV001837086] | uncertain significance | 16 | 89553833 | 89553833 | Human | 2 | name |
| 151753710 | CV1335827 | single nucleotide variant | NM_003119.4(SPG7):c.1046G>T (p.Gly349Val) | Hereditary spastic paraplegia [RCV001848227] | uncertain significance | 16 | 89531962 | 89531962 | Human | 1 | name |
| 151753719 | CV1335828 | single nucleotide variant | NM_003119.4(SPG7):c.1207T>A (p.Cys403Ser) | Hereditary spastic paraplegia [RCV001848228] | uncertain significance | 16 | 89532519 | 89532519 | Human | 1 | name |
| 151753743 | CV1335831 | single nucleotide variant | NM_003119.4(SPG7):c.1442C>G (p.Thr481Arg) | Hereditary spastic paraplegia [RCV001848231] | uncertain significance | 16 | 89544765 | 89544765 | Human | 1 | name |
| 151753757 | CV1335834 | single nucleotide variant | NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp) | Hereditary spastic paraplegia 7 [RCV002543379]|Hereditary spastic paraplegia [RCV001848234] | uncertain significance | 16 | 89553096 | 89553096 | Human | 2 | name |
| 151753763 | CV1335835 | single nucleotide variant | NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr) | Hereditary spastic paraplegia [RCV001848235] | likely pathogenic | 16 | 89553805 | 89553805 | Human | 1 | name |
| 151753769 | CV1335836 | single nucleotide variant | NM_003119.4(SPG7):c.1955G>T (p.Arg652Met) | Hereditary spastic paraplegia [RCV001848236] | uncertain significance | 16 | 89553812 | 89553812 | Human | 1 | name |
| 151753786 | CV1335838 | single nucleotide variant | NM_003119.4(SPG7):c.2261C>T (p.Pro754Leu) | Hereditary spastic paraplegia 7 [RCV005095321]|Hereditary spastic paraplegia [RCV001848238] | uncertain significance | 16 | 89556966 | 89556966 | Human | 2 | name |
| 151871011 | CV1340439 | single nucleotide variant | NM_003119.4(SPG7):c.1740G>T (p.Leu580Phe) | Hereditary spastic paraplegia 7 [RCV001939799] | uncertain significance | 16 | 89550570 | 89550570 | Human | 1 | name |
| 151810884 | CV1345208 | single nucleotide variant | NM_003119.4(SPG7):c.2102A>G (p.His701Arg) | Hereditary spastic paraplegia 7 [RCV001878258] | uncertain significance | 16 | 89553959 | 89553959 | Human | 1 | name |
| 151840409 | CV1345877 | single nucleotide variant | NM_003119.4(SPG7):c.1712T>C (p.Val571Ala) | Hereditary spastic paraplegia 7 [RCV001902769] | uncertain significance | 16 | 89550542 | 89550542 | Human | 1 | name |
| 151810969 | CV1350344 | single nucleotide variant | NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala) | Hereditary spastic paraplegia 7 [RCV002048850] | likely pathogenic | 16 | 89531977 | 89531977 | Human | 1 | name |
| 8660739 | CV135816 | single nucleotide variant | NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) | Hereditary spastic paraplegia 7 [RCV000576853]|Hereditary spastic paraplegia [RCV001847729]|not provided [RCV001705868]|not specified [RCV000118409] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 89546715 | 89546715 | Human | 6 | name |
| 8660739 | CV135816 | single nucleotide variant | NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) | Hereditary spastic paraplegia 7 [RCV000576853]|Hereditary spastic paraplegia [RCV001847729]|not provided [RCV001705868]|not specified [RCV000118409] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 89546715 | 89546716 | Human | 6 | name |
| 8660740 | CV135817 | single nucleotide variant | NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) | Hereditary spastic paraplegia 7 [RCV000576393]|Hereditary spastic paraplegia [RCV001847730]|not provided [RCV001705869]|not specified [RCV000118410] | benign|likely benign|conflicting interpretations of pathogenicity | 16 | 89553920 | 89553920 | Human | 2 | name |
| 151738209 | CV1358537 | single nucleotide variant | NM_003119.4(SPG7):c.1752G>C (p.Met584Ile) | Hereditary spastic paraplegia 7 [RCV001967871]|Inborn genetic diseases [RCV002562240] | uncertain significance | 16 | 89550582 | 89550582 | Human | 2 | name |
| 151717438 | CV1368396 | single nucleotide variant | NM_003119.4(SPG7):c.1234G>A (p.Ala412Thr) | Hereditary spastic paraplegia 7 [RCV001965434] | uncertain significance | 16 | 89532546 | 89532546 | Human | 1 | name |
| 151843691 | CV1381225 | single nucleotide variant | NM_003119.4(SPG7):c.1844A>G (p.His615Arg) | Hereditary spastic paraplegia 7 [RCV001881668] | uncertain significance | 16 | 89553043 | 89553043 | Human | 1 | name |
| 151821568 | CV1385146 | single nucleotide variant | NM_003119.4(SPG7):c.2290A>G (p.Ile764Val) | Hereditary spastic paraplegia 7 [RCV001975782]|Inborn genetic diseases [RCV004671579] | likely benign|uncertain significance | 16 | 89556995 | 89556995 | Human | 2 | name |
| 151887794 | CV1409130 | single nucleotide variant | NM_003119.4(SPG7):c.2323G>A (p.Glu775Lys) | Hereditary spastic paraplegia 7 [RCV001942462] | uncertain significance | 16 | 89557028 | 89557028 | Human | 1 | name |
| 151769968 | CV1410726 | single nucleotide variant | NM_003119.4(SPG7):c.1073T>C (p.Leu358Pro) | Hereditary spastic paraplegia 7 [RCV001971082] | uncertain significance | 16 | 89531989 | 89531989 | Human | 1 | name |
| 151731148 | CV1421280 | single nucleotide variant | NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp) | Hereditary spastic paraplegia 7 [RCV001892263]|Inborn genetic diseases [RCV002552317]|not provided [RCV004728890] | pathogenic|likely pathogenic|uncertain significance | 16 | 89553919 | 89553919 | Human | 2 | name |
| 8692979 | CV142944 | single nucleotide variant | NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) | Hereditary spastic paraplegia 7 [RCV000989665]|Hereditary spastic paraplegia [RCV001847762]|not provided [RCV000585517]|not specified [RCV000128202] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89546665 | 89546665 | Human | 2 | name |
| 151743265 | CV1431086 | single nucleotide variant | NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr) | Hereditary spastic paraplegia 7 [RCV001893485] | uncertain significance | 16 | 89553878 | 89553878 | Human | 1 | name |
| 151886330 | CV1441462 | single nucleotide variant | NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter) | Hereditary spastic paraplegia 7 [RCV001942142] | pathogenic|likely pathogenic | 16 | 89550532 | 89550532 | Human | 1 | name |
| 151749125 | CV1465212 | single nucleotide variant | NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter) | Hereditary spastic paraplegia 7 [RCV002043093]|not specified [RCV003388081] | uncertain significance | 16 | 89557070 | 89557070 | Human | 1 | name |
| 151854823 | CV1466103 | single nucleotide variant | NM_003119.4(SPG7):c.1378A>G (p.Ile460Val) | Hereditary spastic paraplegia 7 [RCV001883202] | uncertain significance | 16 | 89544701 | 89544701 | Human | 1 | name |
| 151778720 | CV1472261 | single nucleotide variant | NM_003119.4(SPG7):c.1085T>A (p.Val362Glu) | Hereditary spastic paraplegia 7 [RCV002026055] | uncertain significance | 16 | 89532001 | 89532001 | Human | 1 | name |
| 151771571 | CV1477641 | single nucleotide variant | NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr) | Hereditary spastic paraplegia 7 [RCV001950204] | uncertain significance | 16 | 89532513 | 89532513 | Human | 1 | name |
| 151877281 | CV1480866 | single nucleotide variant | NM_003119.4(SPG7):c.1927G>A (p.Val643Ile) | Hereditary spastic paraplegia 7 [RCV001982061] | uncertain significance | 16 | 89553126 | 89553126 | Human | 1 | name |
| 151853971 | CV1483328 | single nucleotide variant | NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr) | Hereditary spastic paraplegia 7 [RCV001937716]|Inborn genetic diseases [RCV003264239] | uncertain significance | 16 | 89531949 | 89531949 | Human | 2 | name |
| 151838843 | CV1492790 | single nucleotide variant | NM_003119.4(SPG7):c.1199G>A (p.Arg400Gln) | Hereditary spastic paraplegia 7 [RCV001881098] | uncertain significance | 16 | 89532511 | 89532511 | Human | 1 | name |
| 151862819 | CV1498360 | single nucleotide variant | NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu) | Hereditary spastic paraplegia 7 [RCV001980346] | uncertain significance | 16 | 89552995 | 89552995 | Human | 1 | name |
| 151846715 | CV1501836 | single nucleotide variant | NM_003119.4(SPG7):c.1422C>G (p.His474Gln) | Hereditary spastic paraplegia 7 [RCV002016013] | uncertain significance | 16 | 89544745 | 89544745 | Human | 1 | name |
| 151889086 | CV1504664 | single nucleotide variant | NM_003119.4(SPG7):c.1363A>C (p.Thr455Pro) | Hereditary spastic paraplegia 7 [RCV001963355] | uncertain significance | 16 | 89544686 | 89544686 | Human | 1 | name |
| 151825732 | CV1507176 | single nucleotide variant | NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile) | Hereditary spastic paraplegia 7 [RCV001955194] | uncertain significance | 16 | 89532568 | 89532568 | Human | 1 | name |
| 151727903 | CV1517446 | single nucleotide variant | NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter) | Hereditary spastic paraplegia 7 [RCV002052061]|Spastic ataxia [RCV003329432]|not provided [RCV004729059] | pathogenic|likely pathogenic | 16 | 89553060 | 89553060 | Human | 3 | name |
| 156192831 | CV1667034 | single nucleotide variant | NM_003119.4(SPG7):c.2279C>T (p.Pro760Leu) | Hereditary spastic paraplegia 7 [RCV002917506] | uncertain significance | 16 | 89556984 | 89556984 | Human | 1 | name |
| 153303013 | CV1686123 | single nucleotide variant | NM_003119.4(SPG7):c.1135G>A (p.Val379Met) | Hereditary spastic paraplegia 7 [RCV003095876]|Inborn genetic diseases [RCV004965836]|not provided [RCV002261556] | uncertain significance | 16 | 89532051 | 89532051 | Human | 2 | name |
| 153345607 | CV1691186 | single nucleotide variant | NM_003119.4(SPG7):c.2241T>G (p.Ile747Met) | Hereditary spastic paraplegia 7 [RCV002272667] | uncertain significance | 16 | 89556946 | 89556946 | Human | 1 | name |
| 153348375 | CV1692306 | single nucleotide variant | NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) | Hereditary spastic paraplegia 7 [RCV002273858] | likely pathogenic|conflicting interpretations of pathogenicity | 16 | 89554543 | 89554543 | Human | 1 | name |
| 153348647 | CV1692691 | single nucleotide variant | NM_003119.4(SPG7):c.1987A>T (p.Lys663Ter) | not provided [RCV002274546] | likely pathogenic | 16 | 89553844 | 89553844 | Human | | name |
| 153349619 | CV1693693 | single nucleotide variant | NM_003119.4(SPG7):c.1781T>C (p.Val594Ala) | not provided [RCV002276035] | uncertain significance | 16 | 89552980 | 89552980 | Human | | name |
| 155268238 | CV1701675 | single nucleotide variant | NM_003119.4(SPG7):c.2102A>C (p.His701Pro) | Hereditary spastic paraplegia 7 [RCV002283905]|not provided [RCV004999686] | pathogenic|likely pathogenic | 16 | 89553959 | 89553959 | Human | 1 | name |
| 155265015 | CV1704563 | single nucleotide variant | NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp) | Hereditary spastic paraplegia 7 [RCV003097678]|not provided [RCV002284779] | uncertain significance | 16 | 89531929 | 89531929 | Human | 1 | name |
| 155643147 | CV1707699 | single nucleotide variant | NM_003119.4(SPG7):c.2350C>T (p.Pro784Ser) | Hereditary spastic paraplegia 7 [RCV002289160] | uncertain significance | 16 | 89557055 | 89557055 | Human | 1 | name |
| 155645094 | CV1710574 | single nucleotide variant | NM_003119.4(SPG7):c.1502C>T (p.Ser501Phe) | not provided [RCV002293870] | uncertain significance | 16 | 89546710 | 89546710 | Human | | name |
| 155716596 | CV1780510 | single nucleotide variant | NM_003119.4(SPG7):c.1261A>G (p.Met421Val) | not provided [RCV002306115] | uncertain significance | 16 | 89532573 | 89532573 | Human | | name |
| 155800855 | CV1863850 | single nucleotide variant | NM_003119.4(SPG7):c.1004T>G (p.Leu335Arg) | not provided [RCV002474273] | uncertain significance | 16 | 89531920 | 89531920 | Human | | name |
| 155800858 | CV1863853 | single nucleotide variant | NM_003119.4(SPG7):c.1315G>A (p.Glu439Lys) | not provided [RCV002474276] | uncertain significance | 16 | 89532627 | 89532627 | Human | | name |
| 155800859 | CV1863854 | single nucleotide variant | NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu) | Hereditary spastic paraplegia 7 [RCV005008599]|not provided [RCV002474277]|not specified [RCV003491120] | likely pathogenic|uncertain significance | 16 | 89556951 | 89556951 | Human | 1 | name |
| 156291811 | CV1887072 | single nucleotide variant | NM_003119.4(SPG7):c.2059G>A (p.Gly687Arg) | Hereditary spastic paraplegia 7 [RCV003087516] | uncertain significance | 16 | 89553916 | 89553916 | Human | 1 | name |
| 156410281 | CV1888439 | single nucleotide variant | NM_003119.4(SPG7):c.1858G>C (p.Glu620Gln) | Hereditary spastic paraplegia 7 [RCV003072006] | uncertain significance | 16 | 89553057 | 89553057 | Human | 1 | name |
| 156066672 | CV1888837 | single nucleotide variant | NM_003119.4(SPG7):c.2387A>G (p.Ter796Trp) | Hereditary spastic paraplegia 7 [RCV003079401] | uncertain significance | 16 | 89557092 | 89557092 | Human | 1 | name |
| 156033443 | CV1889968 | single nucleotide variant | NM_003119.4(SPG7):c.1873C>T (p.Arg625Trp) | Hereditary spastic paraplegia 7 [RCV003078210] | uncertain significance | 16 | 89553072 | 89553072 | Human | 1 | name |
| 156295060 | CV1892339 | single nucleotide variant | NM_003119.4(SPG7):c.2372C>G (p.Pro791Arg) | Hereditary spastic paraplegia 7 [RCV003061623] | uncertain significance | 16 | 89557077 | 89557077 | Human | 1 | name |
| 156308404 | CV1895091 | single nucleotide variant | NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser) | Hereditary spastic paraplegia 7 [RCV003088298] | uncertain significance | 16 | 89532039 | 89532039 | Human | 1 | name |
| 156149114 | CV1899607 | single nucleotide variant | NM_003119.4(SPG7):c.1085T>G (p.Val362Gly) | Hereditary spastic paraplegia 7 [RCV003082487] | uncertain significance | 16 | 89532001 | 89532001 | Human | 1 | name |
| 156344180 | CV1907589 | single nucleotide variant | NM_003119.4(SPG7):c.2296G>A (p.Ala766Thr) | Hereditary spastic paraplegia 7 [RCV003090539] | uncertain significance | 16 | 89557001 | 89557001 | Human | 1 | name |
| 156414220 | CV1915837 | single nucleotide variant | NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala) | Hereditary spastic paraplegia 7 [RCV002588480] | uncertain significance | 16 | 89546668 | 89546668 | Human | 1 | name |
| 156371441 | CV1920311 | single nucleotide variant | NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln) | Hereditary spastic paraplegia 7 [RCV002603207] | uncertain significance | 16 | 89554525 | 89554525 | Human | 1 | name |
| 156098670 | CV1920587 | single nucleotide variant | NM_003119.4(SPG7):c.2281C>T (p.Gln761Ter) | Hereditary spastic paraplegia 7 [RCV002592190] | uncertain significance | 16 | 89556986 | 89556986 | Human | 1 | name |
| 156285532 | CV1929710 | single nucleotide variant | NM_003119.4(SPG7):c.1705A>C (p.Lys569Gln) | Hereditary spastic paraplegia 7 [RCV002628598] | uncertain significance | 16 | 89550535 | 89550535 | Human | 1 | name |
| 156167889 | CV1930061 | single nucleotide variant | NM_003119.4(SPG7):c.2316C>G (p.Asp772Glu) | Hereditary spastic paraplegia 7 [RCV002624612] | uncertain significance | 16 | 89557021 | 89557021 | Human | 1 | name |
| 156053031 | CV1934989 | single nucleotide variant | NM_003119.4(SPG7):c.2052G>C (p.Met684Ile) | not specified [RCV002510275] | uncertain significance | 16 | 89553909 | 89553909 | Human | | name |
| 156438826 | CV1943380 | single nucleotide variant | NM_003119.4(SPG7):c.1358C>T (p.Ala453Val) | Hereditary spastic paraplegia 7 [RCV003108774] | uncertain significance | 16 | 89544681 | 89544681 | Human | 1 | name |
| 156230970 | CV1955996 | single nucleotide variant | NM_003119.4(SPG7):c.2252C>A (p.Pro751His) | Hereditary spastic paraplegia 7 [RCV002575870] | uncertain significance | 16 | 89556957 | 89556957 | Human | 1 | name |
| 156217975 | CV1963442 | single nucleotide variant | NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr) | Hereditary spastic paraplegia 7 [RCV002575412] | uncertain significance | 16 | 89556945 | 89556945 | Human | 1 | name |
| 156392112 | CV1964986 | single nucleotide variant | NM_003119.4(SPG7):c.1686C>G (p.Ile562Met) | Hereditary spastic paraplegia 7 [RCV002583969] | uncertain significance | 16 | 89550516 | 89550516 | Human | 1 | name |
| 156308248 | CV1976712 | single nucleotide variant | NM_003119.4(SPG7):c.1421A>C (p.His474Pro) | Hereditary spastic paraplegia 7 [RCV002578551] | uncertain significance | 16 | 89544744 | 89544744 | Human | 1 | name |
| 156384132 | CV1979775 | single nucleotide variant | NM_003119.4(SPG7):c.1361C>T (p.Ser454Phe) | Hereditary spastic paraplegia 7 [RCV002634496] | uncertain significance | 16 | 89544684 | 89544684 | Human | 1 | name |
| 156245231 | CV1992735 | single nucleotide variant | NM_003119.4(SPG7):c.1699G>C (p.Glu567Gln) | Hereditary spastic paraplegia 7 [RCV002627270] | uncertain significance | 16 | 89550529 | 89550529 | Human | 1 | name |
| 156120458 | CV2039461 | single nucleotide variant | NM_003119.4(SPG7):c.1012G>T (p.Gly338Cys) | Hereditary spastic paraplegia 7 [RCV002800204]|Inborn genetic diseases [RCV004064687] | uncertain significance | 16 | 89531928 | 89531928 | Human | 2 | name |
| 155966298 | CV2048938 | single nucleotide variant | NM_003119.4(SPG7):c.1969A>G (p.Ile657Val) | Hereditary spastic paraplegia 7 [RCV002776507]|not provided [RCV005370302] | uncertain significance | 16 | 89553826 | 89553826 | Human | 1 | name |
| 156172849 | CV2051684 | single nucleotide variant | NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro) | Hereditary spastic paraplegia 7 [RCV002828043] | uncertain significance | 16 | 89548102 | 89548102 | Human | 1 | name |
| 156329139 | CV2065055 | single nucleotide variant | NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln) | Hereditary spastic paraplegia 7 [RCV002835192] | uncertain significance | 16 | 89553097 | 89553097 | Human | 1 | name |
| 156031385 | CV2126553 | single nucleotide variant | NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp) | Hereditary spastic paraplegia 7 [RCV002949242] | uncertain significance | 16 | 89546664 | 89546664 | Human | 1 | name |
| 155906463 | CV2130804 | single nucleotide variant | NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser) | Hereditary spastic paraplegia 7 [RCV002967741] | uncertain significance | 16 | 89544710 | 89544710 | Human | 1 | name |
| 155980764 | CV2140404 | single nucleotide variant | NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr) | Hereditary spastic paraplegia 7 [RCV002996086] | uncertain significance | 16 | 89548092 | 89548092 | Human | 1 | name |
| 155989899 | CV2151200 | single nucleotide variant | NM_003119.4(SPG7):c.1622A>G (p.His541Arg) | Hereditary spastic paraplegia 7 [RCV003016777] | uncertain significance | 16 | 89548072 | 89548072 | Human | 1 | name |
| 156359911 | CV2162408 | single nucleotide variant | NM_003119.4(SPG7):c.2149G>A (p.Val717Met) | Hereditary spastic paraplegia 7 [RCV003031490] | uncertain significance | 16 | 89554531 | 89554531 | Human | 1 | name |
| 156304079 | CV2166786 | single nucleotide variant | NM_003119.4(SPG7):c.1563C>G (p.Ile521Met) | Hereditary spastic paraplegia 7 [RCV003045693]|Inborn genetic diseases [RCV003045692] | uncertain significance | 16 | 89548013 | 89548013 | Human | 2 | name |
| 156135746 | CV2181521 | single nucleotide variant | NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro) | Hereditary spastic paraplegia 7 [RCV003039858] | uncertain significance | 16 | 89553848 | 89553848 | Human | 1 | name |
| 8597267 | CV21854 | single nucleotide variant | NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) | Hereditary spastic paraplegia 7 [RCV000007217] | pathogenic|likely pathogenic | 16 | 89553932 | 89553932 | Human | 1 | name |
| 8597269 | CV21858 | single nucleotide variant | NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) | Hereditary spastic paraplegia 7 [RCV000007221]|Hereditary spastic paraplegia [RCV001847595]|Inborn genetic diseases [RCV002512867]|Retinal dystrophy [RCV004814853]|SPG7-related disorder [RCV004752690]|not provided [RCV000198037] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89531961 | 89531961 | Human | 5 | name , alternate_id |
| 8597270 | CV21859 | single nucleotide variant | NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) | Hereditary spastic paraplegia 7 [RCV000007222]|not provided [RCV000996411] | pathogenic|likely pathogenic | 16 | 89550579 | 89550579 | Human | 1 | name |
| 156367353 | CV2203505 | single nucleotide variant | NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln) | Hereditary spastic paraplegia 7 [RCV003507467]|Inborn genetic diseases [RCV002652240] | uncertain significance | 16 | 89557070 | 89557070 | Human | 2 | name |
| 156084594 | CV2249273 | single nucleotide variant | NM_003119.4(SPG7):c.2114T>G (p.Leu705Arg) | Inborn genetic diseases [RCV002798144] | uncertain significance | 16 | 89554496 | 89554496 | Human | 1 | name |
| 156190837 | CV2255190 | single nucleotide variant | NM_003119.4(SPG7):c.1741G>A (p.Val581Met) | Inborn genetic diseases [RCV002802834] | uncertain significance | 16 | 89550571 | 89550571 | Human | 1 | name |
| 156198653 | CV2293709 | single nucleotide variant | NM_003119.4(SPG7):c.1598C>T (p.Ala533Val) | Inborn genetic diseases [RCV002874686]|not provided [RCV004790430]|not specified [RCV003404170] | uncertain significance | 16 | 89548048 | 89548048 | Human | 1 | name |
| 243061390 | CV2408927 | single nucleotide variant | NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp) | Hereditary spastic paraplegia 7 [RCV003138644] | uncertain significance | 16 | 89556923 | 89556923 | Human | 1 | name |
| 243061393 | CV2408930 | single nucleotide variant | NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser) | Hereditary spastic paraplegia 7 [RCV003138647] | uncertain significance | 16 | 89532613 | 89532613 | Human | 1 | name |
| 329391884 | CV2453210 | single nucleotide variant | NM_003119.4(SPG7):c.2317T>G (p.Leu773Val) | Inborn genetic diseases [RCV003217487] | uncertain significance | 16 | 89557022 | 89557022 | Human | 1 | name |
| 329399560 | CV2470154 | single nucleotide variant | NM_003119.4(SPG7):c.1166G>A (p.Arg389His) | Inborn genetic diseases [RCV003220982] | uncertain significance | 16 | 89532478 | 89532478 | Human | 1 | name |
| 401918622 | CV2523106 | single nucleotide variant | NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro) | Hereditary spastic paraplegia 7 [RCV003388209] | pathogenic | 16 | 89556900 | 89556900 | Human | 1 | name |
| 401918473 | CV2523109 | single nucleotide variant | NM_003119.4(SPG7):c.2001G>A (p.Met667Ile) | Hereditary spastic paraplegia 7 [RCV003388212] | likely pathogenic | 16 | 89553858 | 89553858 | Human | 1 | name |
| 329848249 | CV2667868 | single nucleotide variant | NM_003119.4(SPG7):c.1364C>T (p.Thr455Met) | not provided [RCV003229435] | uncertain significance | 16 | 89544687 | 89544687 | Human | | name |
| 329848296 | CV2667915 | single nucleotide variant | NM_003119.4(SPG7):c.2050A>T (p.Met684Leu) | not provided [RCV003229483] | uncertain significance | 16 | 89553907 | 89553907 | Human | | name |
| 329955298 | CV2671242 | single nucleotide variant | NM_003119.4(SPG7):c.1636G>A (p.Glu546Lys) | not specified [RCV003236518] | uncertain significance | 16 | 89548086 | 89548086 | Human | | name |
| 401734328 | CV2688473 | single nucleotide variant | NM_003119.4(SPG7):c.2157G>C (p.Gln719His) | Inborn genetic diseases [RCV003290740] | uncertain significance | 16 | 89554539 | 89554539 | Human | 1 | name |
| 401773584 | CV2709393 | single nucleotide variant | NM_003119.4(SPG7):c.1294A>G (p.Thr432Ala) | Inborn genetic diseases [RCV003262251] | uncertain significance | 16 | 89532606 | 89532606 | Human | 1 | name |
| 401720854 | CV2737333 | single nucleotide variant | NM_003119.4(SPG7):c.1303C>T (p.Gln435Ter) | Hereditary spastic paraplegia 7 [RCV003314272] | pathogenic | 16 | 89532615 | 89532615 | Human | 1 | name |
| 401796710 | CV2739690 | single nucleotide variant | NM_003119.4(SPG7):c.1166G>T (p.Arg389Leu) | not provided [RCV003319651] | uncertain significance | 16 | 89532478 | 89532478 | Human | | name |
| 401798427 | CV2741519 | single nucleotide variant | NM_003119.4(SPG7):c.1249C>T (p.Arg417Cys) | Hereditary spastic paraplegia 7 [RCV003322738] | uncertain significance | 16 | 89532561 | 89532561 | Human | 1 | name |
| 401855432 | CV2752920 | single nucleotide variant | NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly) | Hereditary spastic paraplegia 7 [RCV003337974] | uncertain significance | 16 | 89553956 | 89553956 | Human | 1 | name |
| 401885668 | CV2783251 | single nucleotide variant | NM_003119.4(SPG7):c.2221G>C (p.Glu741Gln) | Inborn genetic diseases [RCV003386753] | uncertain significance | 16 | 89556926 | 89556926 | Human | 1 | name |
| 401902716 | CV2799554 | single nucleotide variant | NM_003119.4(SPG7):c.1189G>C (p.Ala397Pro) | SPG7-related disorder [RCV003419025] | uncertain significance | 16 | 89532501 | 89532501 | Human | | name , trait , alternate_id |
| 401913026 | CV2801551 | single nucleotide variant | NM_003119.4(SPG7):c.1828C>T (p.Leu610Phe) | SPG7-related disorder [RCV003400043] | uncertain significance | 16 | 89553027 | 89553027 | Human | | name , trait , alternate_id |
| 401925118 | CV2805253 | single nucleotide variant | NM_003119.4(SPG7):c.1931C>A (p.Thr644Asn) | not specified [RCV003405074] | uncertain significance | 16 | 89553130 | 89553130 | Human | | name |
| 401935943 | CV2814586 | single nucleotide variant | NM_003119.4(SPG7):c.1016C>G (p.Ala339Gly) | not provided [RCV003413054] | uncertain significance | 16 | 89531932 | 89531932 | Human | | name |
| 401903605 | CV2814589 | single nucleotide variant | NM_003119.4(SPG7):c.1652G>A (p.Arg551His) | not provided [RCV003419525] | uncertain significance | 16 | 89548102 | 89548102 | Human | | name |
| 401962381 | CV2845054 | single nucleotide variant | NM_003119.4(SPG7):c.2065C>T (p.Arg689Cys) | Hereditary spastic paraplegia 7 [RCV005100308]|not provided [RCV003482515] | uncertain significance | 16 | 89553922 | 89553922 | Human | 1 | name |
| 401962384 | CV2845055 | single nucleotide variant | NM_003119.4(SPG7):c.2379G>T (p.Trp793Cys) | Inborn genetic diseases [RCV005281405]|not provided [RCV003482516] | uncertain significance | 16 | 89557084 | 89557084 | Human | 1 | name |
| 402494685 | CV2863242 | single nucleotide variant | NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly) | Hereditary spastic paraplegia 7 [RCV003508061] | uncertain significance | 16 | 89548045 | 89548045 | Human | 1 | name |
| 402491885 | CV2865758 | single nucleotide variant | NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter) | Hereditary spastic paraplegia 7 [RCV003507689] | uncertain significance | 16 | 89557031 | 89557031 | Human | 1 | name |
| 402499961 | CV2889191 | single nucleotide variant | NM_003119.4(SPG7):c.1595C>T (p.Ala532Val) | Hereditary spastic paraplegia 7 [RCV003508608] | uncertain significance | 16 | 89548045 | 89548045 | Human | 1 | name |
| 402502521 | CV2899312 | single nucleotide variant | NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys) | Hereditary spastic paraplegia 7 [RCV003508893] | uncertain significance | 16 | 89548101 | 89548101 | Human | 1 | name |
| 402502908 | CV2902401 | single nucleotide variant | NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln) | Hereditary spastic paraplegia 7 [RCV003508933] | uncertain significance | 16 | 89544741 | 89544741 | Human | 1 | name |
| 402486305 | CV2919708 | single nucleotide variant | NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys) | Hereditary spastic paraplegia 7 [RCV003507020] | uncertain significance | 16 | 89532529 | 89532529 | Human | 1 | name |
| 405130008 | CV2941792 | single nucleotide variant | NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg) | Hereditary spastic paraplegia 7 [RCV003618175] | uncertain significance | 16 | 89531980 | 89531980 | Human | 1 | name |
| 405130600 | CV2953907 | single nucleotide variant | NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp) | Hereditary spastic paraplegia 7 [RCV003618238] | uncertain significance | 16 | 89550531 | 89550531 | Human | 1 | name |
| 405131036 | CV2955383 | single nucleotide variant | NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro) | Hereditary spastic paraplegia 7 [RCV003618283] | uncertain significance | 16 | 89544735 | 89544735 | Human | 1 | name |
| 405131462 | CV2971701 | single nucleotide variant | NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp) | Hereditary spastic paraplegia 7 [RCV003618353] | uncertain significance | 16 | 89532553 | 89532553 | Human | 1 | name |
| 405134915 | CV2998287 | single nucleotide variant | NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala) | Hereditary spastic paraplegia 7 [RCV003618688] | uncertain significance | 16 | 89553106 | 89553106 | Human | 1 | name |
| 405123879 | CV3012238 | single nucleotide variant | NM_003119.4(SPG7):c.2197C>A (p.Leu733Met) | Hereditary spastic paraplegia 7 [RCV003617403] | uncertain significance | 16 | 89556902 | 89556902 | Human | 1 | name |
| 405126285 | CV3036249 | single nucleotide variant | NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu) | Hereditary spastic paraplegia 7 [RCV003617707] | uncertain significance | 16 | 89532531 | 89532531 | Human | 1 | name |
| 405138152 | CV3075383 | single nucleotide variant | NM_003119.4(SPG7):c.1711G>T (p.Val571Phe) | Hereditary spastic paraplegia 7 [RCV003619005] | uncertain significance | 16 | 89550541 | 89550541 | Human | 1 | name |
| 404997531 | CV3123882 | single nucleotide variant | NM_003119.4(SPG7):c.2123C>T (p.Ala708Val) | Hereditary spastic paraplegia 7 [RCV003827789] | uncertain significance | 16 | 89554505 | 89554505 | Human | 1 | name |
| 405143573 | CV3155711 | single nucleotide variant | NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp) | Hereditary spastic paraplegia 7 [RCV003855753] | uncertain significance | 16 | 89550599 | 89550599 | Human | 1 | name |
| 405235336 | CV3155888 | single nucleotide variant | NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys) | Hereditary spastic paraplegia 7 [RCV003853621] | uncertain significance | 16 | 89548066 | 89548066 | Human | 1 | name |
| 402468947 | CV3174636 | single nucleotide variant | NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser) | Hereditary spastic paraplegia 7 [RCV003873746] | uncertain significance | 16 | 89556953 | 89556953 | Human | 1 | name |
| 405253231 | CV3178175 | single nucleotide variant | NM_003119.4(SPG7):c.1645G>A (p.Val549Met) | Hereditary spastic paraplegia 7 [RCV003870955]|not provided [RCV004820316] | uncertain significance | 16 | 89548095 | 89548095 | Human | 1 | name |
| 405746325 | CV3226390 | single nucleotide variant | NM_003119.4(SPG7):c.1853C>T (p.Thr618Ile) | Hereditary spastic paraplegia 7 [RCV003991381] | uncertain significance | 16 | 89553052 | 89553052 | Human | 1 | name |
| 405719233 | CV3323109 | single nucleotide variant | NM_003119.4(SPG7):c.1280C>A (p.Thr427Lys) | Inborn genetic diseases [RCV004462898] | uncertain significance | 16 | 89532592 | 89532592 | Human | 1 | name |
| 405735438 | CV3323110 | single nucleotide variant | NM_003119.4(SPG7):c.1304A>G (p.Gln435Arg) | Inborn genetic diseases [RCV004464882] | uncertain significance | 16 | 89532616 | 89532616 | Human | 1 | name |
| 405735445 | CV3323111 | single nucleotide variant | NM_003119.4(SPG7):c.1682A>T (p.Lys561Met) | Inborn genetic diseases [RCV004464883] | uncertain significance | 16 | 89550512 | 89550512 | Human | 1 | name |
| 405735453 | CV3323112 | single nucleotide variant | NM_003119.4(SPG7):c.1924G>A (p.Glu642Lys) | Inborn genetic diseases [RCV004464884] | likely benign | 16 | 89553123 | 89553123 | Human | 1 | name |
| 408394831 | CV3395413 | single nucleotide variant | NM_003119.4(SPG7):c.1745G>T (p.Gly582Val) | Hereditary spastic paraplegia 7 [RCV004765045] | uncertain significance | 16 | 89550575 | 89550575 | Human | 1 | name |
| 408394782 | CV3395418 | single nucleotide variant | NM_003119.4(SPG7):c.2096T>C (p.Met699Thr) | Hereditary spastic paraplegia 7 [RCV004765050] | uncertain significance | 16 | 89553953 | 89553953 | Human | 1 | name |
| 408394785 | CV3395421 | single nucleotide variant | NM_003119.4(SPG7):c.1879T>C (p.Cys627Arg) | Hereditary spastic paraplegia 7 [RCV004765053] | uncertain significance | 16 | 89553078 | 89553078 | Human | 1 | name |
| 408394798 | CV3395434 | single nucleotide variant | NM_003119.4(SPG7):c.1508C>T (p.Thr503Ile) | Hereditary spastic paraplegia 7 [RCV004765066] | uncertain significance | 16 | 89546716 | 89546716 | Human | 1 | name |
| 408394802 | CV3395438 | single nucleotide variant | NM_003119.4(SPG7):c.1310T>C (p.Leu437Pro) | Hereditary spastic paraplegia 7 [RCV004765070] | likely pathogenic | 16 | 89532622 | 89532622 | Human | 1 | name |
| 408394804 | CV3395440 | single nucleotide variant | NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter) | Hereditary spastic paraplegia 7 [RCV004765072] | likely pathogenic | 16 | 89548091 | 89548091 | Human | 1 | name |
| 408394806 | CV3395442 | single nucleotide variant | NM_003119.4(SPG7):c.2074A>G (p.Ser692Gly) | Hereditary spastic paraplegia 7 [RCV004765074] | uncertain significance | 16 | 89553931 | 89553931 | Human | 1 | name |
| 408394811 | CV3395447 | single nucleotide variant | NM_003119.4(SPG7):c.2163C>G (p.Asn721Lys) | Hereditary spastic paraplegia 7 [RCV004765079] | uncertain significance | 16 | 89554545 | 89554545 | Human | 1 | name |
| 596945336 | CV3401470 | single nucleotide variant | NM_003119.4(SPG7):c.1756G>T (p.Glu586Ter) | Hereditary spastic paraplegia 7 [RCV004818491] | likely pathogenic | 16 | 89550586 | 89550586 | Human | 1 | name |
| 596939711 | CV3407970 | single nucleotide variant | NM_003119.4(SPG7):c.2219A>G (p.Tyr740Cys) | Hereditary spastic paraplegia 7 [RCV005101941]|Retinal dystrophy [RCV004814430] | uncertain significance | 16 | 89556924 | 89556924 | Human | 3 | name |
| 408386015 | CV3415492 | single nucleotide variant | NM_003119.4(SPG7):c.1417C>T (p.Arg473Trp) | Hereditary spastic paraplegia 7 [RCV004767593] | likely pathogenic | 16 | 89544740 | 89544740 | Human | 1 | name |
| 407456022 | CV3415714 | single nucleotide variant | NM_003119.4(SPG7):c.1522C>T (p.Arg508Cys) | not provided [RCV004598590] | uncertain significance | 16 | 89546730 | 89546730 | Human | | name |
| 407511275 | CV3477816 | single nucleotide variant | NM_003119.4(SPG7):c.1874G>A (p.Arg625Gln) | Inborn genetic diseases [RCV004673038] | uncertain significance | 16 | 89553073 | 89553073 | Human | 1 | name |
| 407511278 | CV3477817 | single nucleotide variant | NM_003119.4(SPG7):c.1945G>A (p.Asp649Asn) | Inborn genetic diseases [RCV004673039] | uncertain significance | 16 | 89553802 | 89553802 | Human | 1 | name |
| 407472069 | CV3495196 | single nucleotide variant | NM_003119.4(SPG7):c.1594G>A (p.Ala532Thr) | not specified [RCV004689471] | uncertain significance | 16 | 89548044 | 89548044 | Human | | name |
| 407472301 | CV3495248 | single nucleotide variant | NM_003119.4(SPG7):c.2081G>A (p.Gly694Asp) | not specified [RCV004689523] | uncertain significance | 16 | 89553938 | 89553938 | Human | | name |
| 408381274 | CV3501450 | single nucleotide variant | NM_003119.4(SPG7):c.1476C>G (p.His492Gln) | not provided [RCV004727539] | uncertain significance | 16 | 89546684 | 89546684 | Human | | name |
| 408368771 | CV3502653 | single nucleotide variant | NM_003119.4(SPG7):c.1146T>G (p.Ile382Met) | not provided [RCV004723774] | uncertain significance | 16 | 89532062 | 89532062 | Human | | name |
| 408384614 | CV3504414 | single nucleotide variant | NM_003119.4(SPG7):c.1373C>T (p.Ala458Val) | SPG7-related disorder [RCV004731956] | uncertain significance | 16 | 89544696 | 89544696 | Human | | name , trait , alternate_id |
| 408393135 | CV3519714 | single nucleotide variant | NM_003119.4(SPG7):c.1168G>A (p.Val390Met) | not provided [RCV004764010] | uncertain significance | 16 | 89532480 | 89532480 | Human | | name |
| 408391216 | CV3521254 | single nucleotide variant | NM_003119.4(SPG7):c.1531G>A (p.Glu511Lys) | not provided [RCV004763076] | uncertain significance | 16 | 89546739 | 89546739 | Human | | name |
| 408387537 | CV3524567 | single nucleotide variant | NM_003119.4(SPG7):c.1310T>G (p.Leu437Arg) | not provided [RCV004768441] | uncertain significance | 16 | 89532622 | 89532622 | Human | | name |
| 408389167 | CV3529250 | single nucleotide variant | NM_003119.4(SPG7):c.1118T>C (p.Met373Thr) | not provided [RCV004774072] | uncertain significance | 16 | 89532034 | 89532034 | Human | | name |
| 596926665 | CV3530865 | single nucleotide variant | NM_003119.4(SPG7):c.2146A>G (p.Lys716Glu) | not provided [RCV004778450] | uncertain significance | 16 | 89554528 | 89554528 | Human | | name |
| 596927488 | CV3532603 | single nucleotide variant | NM_003119.4(SPG7):c.1694A>G (p.Lys565Arg) | not provided [RCV004778701] | uncertain significance | 16 | 89550524 | 89550524 | Human | | name |
| 596932990 | CV3539618 | single nucleotide variant | NM_003119.4(SPG7):c.1561A>G (p.Ile521Val) | not provided [RCV004794243] | uncertain significance | 16 | 89548011 | 89548011 | Human | | name |
| 596932991 | CV3539619 | single nucleotide variant | NM_003119.4(SPG7):c.2117T>C (p.Leu706Pro) | not provided [RCV004794244] | uncertain significance | 16 | 89554499 | 89554499 | Human | | name |
| 596947259 | CV3548809 | single nucleotide variant | NM_003119.4(SPG7):c.1063A>T (p.Lys355Ter) | not provided [RCV004811133] | pathogenic | 16 | 89531979 | 89531979 | Human | | name |
| 597731645 | CV3607477 | single nucleotide variant | NM_003119.4(SPG7):c.1159G>A (p.Ala387Thr) | Hereditary spastic paraplegia 7 [RCV005392917]|Inborn genetic diseases [RCV004964099] | uncertain significance | 16 | 89532471 | 89532471 | Human | 2 | name |
| 597731651 | CV3607478 | single nucleotide variant | NM_003119.4(SPG7):c.2360G>C (p.Gly787Ala) | Inborn genetic diseases [RCV004964100] | uncertain significance | 16 | 89557065 | 89557065 | Human | 1 | name |
| 597758864 | CV3711973 | single nucleotide variant | NM_003119.4(SPG7):c.1498C>T (p.Gln500Ter) | Hereditary spastic paraplegia 7 [RCV005017896] | likely pathogenic | 16 | 89546706 | 89546706 | Human | 1 | name |
| 597758869 | CV3711975 | single nucleotide variant | NM_003119.4(SPG7):c.2089C>T (p.Gln697Ter) | Hereditary spastic paraplegia 7 [RCV005017897] | likely pathogenic | 16 | 89553946 | 89553946 | Human | 1 | name |
| 597665467 | CV3732621 | single nucleotide variant | NM_003119.4(SPG7):c.1075G>A (p.Ala359Thr) | not provided [RCV005004092] | uncertain significance | 16 | 89531991 | 89531991 | Human | | name |
| 597830540 | CV3743077 | single nucleotide variant | NM_003119.4(SPG7):c.2192C>T (p.Ala731Val) | Hereditary spastic paraplegia 7 [RCV005062085] | uncertain significance | 16 | 89556897 | 89556897 | Human | 1 | name |
| 597855987 | CV3747991 | single nucleotide variant | NM_003119.4(SPG7):c.1016C>A (p.Ala339Asp) | Hereditary spastic paraplegia 7 [RCV005066812] | uncertain significance | 16 | 89531932 | 89531932 | Human | 1 | name |
| 597958901 | CV3751885 | single nucleotide variant | NM_003119.4(SPG7):c.2176C>G (p.Gln726Glu) | Hereditary spastic paraplegia 7 [RCV005081014] | uncertain significance | 16 | 89554558 | 89554558 | Human | 1 | name |
| 597946157 | CV3755509 | single nucleotide variant | NM_003119.4(SPG7):c.1768G>T (p.Ala590Ser) | Hereditary spastic paraplegia 7 [RCV005078518] | uncertain significance | 16 | 89550598 | 89550598 | Human | 1 | name |
| 597946531 | CV3755603 | single nucleotide variant | NM_003119.4(SPG7):c.1851C>G (p.Phe617Leu) | Hereditary spastic paraplegia 7 [RCV005078613]|not provided [RCV005429494] | uncertain significance | 16 | 89553050 | 89553050 | Human | 1 | name |
| 597848681 | CV3762219 | single nucleotide variant | NM_003119.4(SPG7):c.1082C>T (p.Ala361Val) | not specified [RCV005087637] | uncertain significance | 16 | 89531998 | 89531998 | Human | | name |
| 597963399 | CV3791935 | single nucleotide variant | NM_003119.4(SPG7):c.1120G>A (p.Ala374Thr) | Hereditary spastic paraplegia 7 [RCV005139491] | uncertain significance | 16 | 89532036 | 89532036 | Human | 1 | name |
| 597962119 | CV3809084 | single nucleotide variant | NM_003119.4(SPG7):c.2293G>C (p.Asp765His) | Hereditary spastic paraplegia 7 [RCV005163986] | uncertain significance | 16 | 89556998 | 89556998 | Human | 1 | name |
| 597913089 | CV3833748 | single nucleotide variant | NM_003119.4(SPG7):c.1175G>T (p.Ser392Ile) | Hereditary spastic paraplegia 7 [RCV005183108] | uncertain significance | 16 | 89532487 | 89532487 | Human | 1 | name |
| 597865740 | CV3834355 | single nucleotide variant | NM_003119.4(SPG7):c.1223A>G (p.Asp408Gly) | Hereditary spastic paraplegia 7 [RCV005175722] | uncertain significance | 16 | 89532535 | 89532535 | Human | 1 | name |
| 597869429 | CV3835173 | single nucleotide variant | NM_003119.4(SPG7):c.2348A>G (p.Gln783Arg) | Hereditary spastic paraplegia 7 [RCV005176349] | uncertain significance | 16 | 89557053 | 89557053 | Human | 1 | name |
| 597892358 | CV3836015 | single nucleotide variant | NM_003119.4(SPG7):c.1453A>G (p.Arg485Gly) | Hereditary spastic paraplegia 7 [RCV005179788] | uncertain significance | 16 | 89546661 | 89546661 | Human | 1 | name |
| 597868847 | CV3838924 | single nucleotide variant | NM_003119.4(SPG7):c.2102A>T (p.His701Leu) | Hereditary spastic paraplegia 7 [RCV005176220] | uncertain significance | 16 | 89553959 | 89553959 | Human | 1 | name |
| 597951548 | CV3843332 | single nucleotide variant | NM_003119.4(SPG7):c.1486C>G (p.Leu496Val) | Hereditary spastic paraplegia 7 [RCV005190382] | uncertain significance | 16 | 89546694 | 89546694 | Human | 1 | name |
| 597904097 | CV3846101 | single nucleotide variant | NM_003119.4(SPG7):c.2218T>C (p.Tyr740His) | Hereditary spastic paraplegia 7 [RCV005181723] | uncertain significance | 16 | 89556923 | 89556923 | Human | 1 | name |
| 597942989 | CV3847386 | single nucleotide variant | NM_003119.4(SPG7):c.2320G>A (p.Gly774Ser) | Hereditary spastic paraplegia 7 [RCV005188305] | uncertain significance | 16 | 89557025 | 89557025 | Human | 1 | name |
| 597906290 | CV3856860 | single nucleotide variant | NM_003119.4(SPG7):c.1804G>A (p.Ala602Thr) | Hereditary spastic paraplegia 7 [RCV005202909] | uncertain significance | 16 | 89553003 | 89553003 | Human | 1 | name |
| 598129307 | CV3888601 | single nucleotide variant | NM_003119.4(SPG7):c.2185G>C (p.Ala729Pro) | not provided [RCV005244775] | uncertain significance | 16 | 89556890 | 89556890 | Human | | name |
| 598262946 | CV3919193 | single nucleotide variant | NM_003119.4(SPG7):c.1262T>C (p.Met421Thr) | Inborn genetic diseases [RCV005280347] | uncertain significance | 16 | 89532574 | 89532574 | Human | 1 | name |
| 598262948 | CV3919194 | single nucleotide variant | NM_003119.4(SPG7):c.1210A>G (p.Ile404Val) | Inborn genetic diseases [RCV005280348] | uncertain significance | 16 | 89532522 | 89532522 | Human | 1 | name |
| 617149834 | CV4017325 | single nucleotide variant | NM_003119.4(SPG7):c.1834A>G (p.Arg612Gly) | not provided [RCV005416982] | uncertain significance | 16 | 89553033 | 89553033 | Human | | name |
| 13467504 | CV411590 | single nucleotide variant | NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) | Hereditary spastic paraplegia 7 [RCV002525982]|Hereditary spastic paraplegia [RCV000516119]|not provided [RCV001310348] | uncertain significance | 16 | 89544765 | 89544765 | Human | 2 | name |
| 13504250 | CV441936 | single nucleotide variant | NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr) | Hereditary spastic paraplegia 7 [RCV001121650]|not provided [RCV004691828]|not specified [RCV000516941] | uncertain significance | 16 | 89553006 | 89553006 | Human | 1 | name |
| 13477072 | CV445680 | single nucleotide variant | NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) | Hereditary spastic paraplegia 7 [RCV001066395]|not provided [RCV000520300] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89553130 | 89553130 | Human | 1 | name |
| 13476925 | CV445682 | single nucleotide variant | NM_003119.4(SPG7):c.2227A>C (p.Ile743Leu) | not provided [RCV000520263] | uncertain significance | 16 | 89556932 | 89556932 | Human | | name |
| 13474704 | CV466845 | single nucleotide variant | NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn) | Hereditary spastic paraplegia 7 [RCV000548390]|not provided [RCV001289254] | uncertain significance | 16 | 89532487 | 89532487 | Human | 1 | name |
| 13509148 | CV482113 | single nucleotide variant | NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) | Hereditary spastic paraplegia 7 [RCV001391430]|not provided [RCV000579008] | pathogenic | 16 | 89544692 | 89544692 | Human | 1 | name |
| 8605002 | CV51184 | single nucleotide variant | NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) | Dysarthria [RCV000626837]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 [RCV002463623]|Hereditary spastic paraplegia 7 [RCV000034858]|Hereditary spastic paraplegia [RCV000515835]|Inborn genetic diseases [RCV000623796]|Intellectual disability [RCV000850200]|Optic nerve hypoplasia [RC V000677252]|Retinal dystrophy [RCV004814935]|SPG7-related disorder [RCV003421943]|Spastic Paraplegia, Recessive [RCV000270813]|Spastic ataxia [RCV001003619]|not provided [RCV000195683] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided | 16 | 89546737 | 89546737 | Human | 20 | name , alternate_id |
| 13609963 | CV530508 | single nucleotide variant | NM_003119.4(SPG7):c.1654G>A (p.Val552Ile) | Hereditary spastic paraplegia 7 [RCV000640976]|Inborn genetic diseases [RCV002533253] | uncertain significance | 16 | 89548104 | 89548104 | Human | 2 | name |
| 21071466 | CV791658 | single nucleotide variant | NM_003119.4(SPG7):c.1997G>T (p.Gly666Val) | Hereditary spastic paraplegia 7 [RCV000989666] | likely pathogenic | 16 | 89553854 | 89553854 | Human | 1 | name |
| 21071501 | CV793653 | single nucleotide variant | NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu) | Hereditary spastic paraplegia 7 [RCV002549827]|not provided [RCV000993073] | likely pathogenic|uncertain significance | 16 | 89553883 | 89553883 | Human | 1 | name |
| 21071505 | CV793654 | single nucleotide variant | NM_003119.4(SPG7):c.2183T>G (p.Leu728Arg) | not provided [RCV000993074] | uncertain significance | 16 | 89556888 | 89556888 | Human | | name |
| 21075492 | CV797461 | single nucleotide variant | NM_003119.4(SPG7):c.1327A>G (p.Met443Val) | not provided [RCV000996409] | uncertain significance | 16 | 89544650 | 89544650 | Human | | name |
| 21075495 | CV797464 | single nucleotide variant | NM_003119.4(SPG7):c.2271G>A (p.Met757Ile) | not provided [RCV000996414] | uncertain significance | 16 | 89556976 | 89556976 | Human | | name |
| 26898037 | CV844503 | single nucleotide variant | NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln) | Hereditary spastic paraplegia 7 [RCV001035268]|Inborn genetic diseases [RCV004962998]|not provided [RCV004720041] | uncertain significance | 16 | 89548051 | 89548051 | Human | 2 | name |
| 26900786 | CV844504 | single nucleotide variant | NM_003119.4(SPG7):c.1720C>T (p.His574Tyr) | Hereditary spastic paraplegia 7 [RCV001053922] | uncertain significance | 16 | 89550550 | 89550550 | Human | 1 | name |
| 26898244 | CV844505 | single nucleotide variant | NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser) | Hereditary spastic paraplegia 7 [RCV001036140] | uncertain significance | 16 | 89553884 | 89553884 | Human | 1 | name |
| 26898400 | CV844506 | single nucleotide variant | NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp) | Hereditary spastic paraplegia 7 [RCV001037124] | uncertain significance | 16 | 89554513 | 89554513 | Human | 1 | name |
| 28882371 | CV876185 | single nucleotide variant | NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln) | Hereditary spastic paraplegia 7 [RCV001118113]|SPG7-related disorder [RCV004753210] | uncertain significance | 16 | 89532484 | 89532484 | Human | 1 | name , alternate_id |
| 28893309 | CV876190 | single nucleotide variant | NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys) | Hereditary spastic paraplegia 7 [RCV001121648]|Inborn genetic diseases [RCV003363115]|not provided [RCV004761935] | uncertain significance | 16 | 89550529 | 89550529 | Human | 2 | name |
| 28893313 | CV876191 | single nucleotide variant | NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr) | Hereditary spastic paraplegia 7 [RCV001121649] | uncertain significance | 16 | 89550565 | 89550565 | Human | 1 | name |
| 28878034 | CV876192 | single nucleotide variant | NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly) | Hereditary spastic paraplegia 7 [RCV001116770]|Hereditary spastic paraplegia [RCV001847163] | uncertain significance | 16 | 89556930 | 89556930 | Human | 2 | name |
| 38466233 | CV920908 | single nucleotide variant | NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) | Hereditary spastic paraplegia 7 [RCV001542601]|Hereditary spastic paraplegia [RCV001847187]|not provided [RCV001200106] | pathogenic|likely pathogenic|uncertain significance | 16 | 89553093 | 89553093 | Human | 2 | name |
| 38481960 | CV949641 | single nucleotide variant | NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln) | Hereditary spastic paraplegia 7 [RCV001235362] | uncertain significance | 16 | 89550586 | 89550586 | Human | 1 | name |
| 40814380 | CV969131 | single nucleotide variant | NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg) | Hereditary spastic paraplegia 7 [RCV001260248] | uncertain significance | 16 | 89546751 | 89546751 | Human | 1 | name |
| 40814381 | CV969132 | single nucleotide variant | NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) | Hereditary spastic paraplegia 7 [RCV001260249] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 89553824 | 89553824 | Human | 1 | name |
| 40814979 | CV971059 | single nucleotide variant | NM_003119.4(SPG7):c.1238T>A (p.Val413Glu) | Hereditary spastic paraplegia 7 [RCV001262387] | uncertain significance | 16 | 89532550 | 89532550 | Human | 1 | name |
| 40904120 | CV976418 | single nucleotide variant | NM_003119.4(SPG7):c.1259C>T (p.Thr420Ile) | not provided [RCV001269941] | likely pathogenic | 16 | 89532571 | 89532571 | Human | | name |
| 10042293 | CV186292 | single nucleotide variant | NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) | Hereditary spastic paraplegia 7 [RCV000168257]|Hereditary spastic paraplegia [RCV001847793]|Inborn genetic diseases [RCV002515187]|Mitochondrial disease [RCV000508922]|SPG7-related disorder [RCV003416049]|not provided [RCV000413970] | pathogenic | 16 | 89550502 | 89550502 | Human | 4 | alternate_id |
| 10410453 | CV211768 | single nucleotide variant | NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) | Hereditary spastic paraplegia 7 [RCV000867765]|SPG7-related disorder [RCV003955198]|not provided [RCV004808627]|not specified [RCV000198210] | likely benign | 16 | 89553108 | 89553108 | Human | 1 | alternate_id |
| 10411374 | CV211771 | single nucleotide variant | NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) | Hereditary spastic paraplegia 7 [RCV002515440]|SPG7-related disorder [RCV003417715]|not provided [RCV000200130] | likely pathogenic|uncertain significance | 16 | 89554486 | 89554486 | Human | 1 | alternate_id |
| 10410751 | CV211774 | single nucleotide variant | NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) | Hereditary spastic paraplegia 7 [RCV000500664]|Hereditary spastic paraplegia [RCV001847889]|SPG7-related disorder [RCV003401074]|Spastic ataxia [RCV001640295]|not provided [RCV000198819] | pathogenic|likely pathogenic | 16 | 89556933 | 89556933 | Human | 4 | alternate_id |
| 10768377 | CV222538 | single nucleotide variant | NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) | Hereditary spastic paraplegia 7 [RCV000206309]|SPG7-related disorder [RCV003897449]|not provided [RCV000993072] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 16 | 89553103 | 89553103 | Human | 1 | alternate_id |
| 11629551 | CV344561 | single nucleotide variant | NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr) | Hereditary spastic paraplegia 7 [RCV000325890]|Inborn genetic diseases [RCV004965409]|SPG7-related disorder [RCV003409504] | uncertain significance | 16 | 89548014 | 89548014 | Human | 2 | alternate_id |
| 408384814 | CV3503645 | deletion | NM_003119.4(SPG7):c.266_269del (p.Val89fs) | SPG7-related disorder [RCV004732135] | likely pathogenic | 16 | 89510569 | 89510572 | Human | | trait , alternate_id |
| 408384928 | CV3506548 | indel | NM_003119.4(SPG7):c.2062_2063delinsTA (p.Arg688Ter) | SPG7-related disorder [RCV004732236] | likely pathogenic | 16 | 89553919 | 89553920 | Human | | trait , alternate_id |
| 13529033 | CV497082 | microsatellite | NM_003119.4(SPG7):c.773_774del (p.Val258fs) | Hereditary spastic paraplegia 7 [RCV000989664]|Hereditary spastic paraplegia [RCV000615294]|SPG7-related disorder [RCV003403411]|not provided [RCV005000374] | pathogenic | 16 | 89529489 | 89529490 | Human | | alternate_id |
| 150421490 | CV1195136 | deletion | NM_003119.4(SPG7):c.1324+3864_1324+3867del | not provided [RCV001570568] | likely benign | 16 | 89536499 | 89536502 | Human | | name |
| 150471380 | CV1209536 | deletion | NM_003119.4(SPG7):c.1324+3842_1324+3850del | not provided [RCV001588647] | likely benign | 16 | 89536478 | 89536486 | Human | | name |
| 150531295 | CV1291107 | duplication | NM_003119.4(SPG7):c.1324+3989_1324+3997dup | not provided [RCV001733003] | likely benign | 16 | 89536624 | 89536625 | Human | | name |
| 150440434 | CV1287182 | insertion | NM_003119.4(SPG7):c.377-245_377-244insTCTCA | not provided [RCV001725097] | benign | 16 | 89523760 | 89523761 | Human | | name |
| 8559566 | CV21857 | indel | NM_003119.4(SPG7):c.1450-446_1779+746delinsAAAGTGCT | Hereditary spastic paraplegia 7 [RCV000007220] | pathogenic | 16 | 89546212 | 89551355 | Human | | name |
| 150476584 | CV1218498 | insertion | NM_003119.4(SPG7):c.1324+3893_1324+3894insAGGTGAGGTGAGGC | not provided [RCV001616125] | benign | 16 | 89536520 | 89536521 | Human | | name |
| 150333147 | CV1169705 | insertion | NM_003119.4(SPG7):c.1324+3849_1324+3850insCGGGCGAGGCGGGCGAGG | not provided [RCV001537184] | benign | 16 | 89536481 | 89536482 | Human | | name |
| 150426211 | CV1185187 | insertion | NM_003119.4(SPG7):c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCGGGTGAGG | not provided [RCV001559062] | likely benign | 16 | 89536469 | 89536470 | Human | | name |
| 13479936 | CV445681 | single nucleotide variant | NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) | Hereditary spastic paraplegia 7 [RCV001062199]|Hereditary spastic paraplegia [RCV001848911]|not provided [RCV000521089] | uncertain significance | 16 | 89553796 | 89553796 | Human | 2 | name |