| 11643977 | CV272939 | single nucleotide variant | NM_152415.3(VPS37A):c.-19G>A | not specified [RCV000403978] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 17247226 | 17247226 | Human | | name |
| 14739987 | CV655856 | single nucleotide variant | NM_152415.3(VPS37A):c.-31C>T | not provided [RCV000840139] | likely benign | 8 | 17247214 | 17247214 | Human | | name |
| 14708337 | CV655857 | single nucleotide variant | NM_152415.3(VPS37A):c.-13G>A | not provided [RCV000827114] | likely benign | 8 | 17247232 | 17247232 | Human | | name |
| 14718169 | CV662748 | single nucleotide variant | NM_152415.2(VPS37A):c.-566G>A | not provided [RCV000830307] | benign | 8 | 17246679 | 17246679 | Human | | name |
| 127239101 | CV1075234 | single nucleotide variant | NM_152415.3(VPS37A):c.901-9C>G | Hereditary spastic paraplegia 53 [RCV001397457] | likely benign | 8 | 17280366 | 17280366 | Human | 1 | name |
| 151803880 | CV1375575 | single nucleotide variant | NM_152415.3(VPS37A):c.417-2A>G | Hereditary spastic paraplegia 53 [RCV001953178] | uncertain significance | 8 | 17274731 | 17274731 | Human | 1 | name |
| 156442385 | CV1938610 | single nucleotide variant | NM_152415.3(VPS37A):c.417-9T>C | Hereditary spastic paraplegia 53 [RCV003112726]|VPS37A-related disorder [RCV003954052] | likely benign | 8 | 17274724 | 17274724 | Human | 1 | name , trait , alternate_id |
| 156059974 | CV2034479 | single nucleotide variant | NM_152415.3(VPS37A):c.642+7A>G | Hereditary spastic paraplegia 53 [RCV002736804] | uncertain significance | 8 | 17274965 | 17274965 | Human | 1 | name |
| 156012214 | CV2172333 | single nucleotide variant | NM_152415.3(VPS37A):c.126-1G>C | Hereditary spastic paraplegia 53 [RCV003035303] | uncertain significance | 8 | 17265906 | 17265906 | Human | 1 | name |
| 597894586 | CV3833566 | single nucleotide variant | NM_152415.3(VPS37A):c.315+4T>G | Hereditary spastic paraplegia 53 [RCV005180258] | uncertain significance | 8 | 17268376 | 17268376 | Human | 1 | name |
| 597922058 | CV3861866 | single nucleotide variant | NM_152415.3(VPS37A):c.417-8C>T | Hereditary spastic paraplegia 53 [RCV005205242] | likely benign | 8 | 17274725 | 17274725 | Human | 1 | name |
| 13539151 | CV502423 | single nucleotide variant | NM_152415.3(VPS37A):c.125+8G>A | Hereditary spastic paraplegia 53 [RCV000861502]|Hereditary spastic paraplegia [RCV001848990]|not provided [RCV004712898]|not specified [RCV000612876] | benign | 8 | 17247377 | 17247377 | Human | 2 | name |
| 14713483 | CV651772 | single nucleotide variant | NM_152415.3(VPS37A):c.969+6A>G | Hereditary spastic paraplegia 53 [RCV000793376] | uncertain significance | 8 | 17280449 | 17280449 | Human | 1 | name |
| 15160527 | CV689913 | single nucleotide variant | NM_152415.3(VPS37A):c.969+7C>G | not provided [RCV000869034] | likely benign | 8 | 17280450 | 17280450 | Human | | name |
| 15172325 | CV744455 | single nucleotide variant | NM_152415.3(VPS37A):c.201-6T>C | not provided [RCV000905645] | likely benign | 8 | 17268252 | 17268252 | Human | | name |
| 15104922 | CV777760 | single nucleotide variant | NM_152415.3(VPS37A):c.642+9C>T | Hereditary spastic paraplegia 53 [RCV000959782] | likely benign | 8 | 17274967 | 17274967 | Human | 1 | name |
| 38492722 | CV940897 | single nucleotide variant | NM_152415.3(VPS37A):c.416+3A>G | Hereditary spastic paraplegia 53 [RCV001223655] | uncertain significance | 8 | 17268959 | 17268959 | Human | 1 | name |
| 127235545 | CV1096909 | single nucleotide variant | NM_152415.3(VPS37A):c.642+10G>A | Hereditary spastic paraplegia 53 [RCV001433130]|Hereditary spastic paraplegia [RCV001847273] | likely benign|uncertain significance | 8 | 17274968 | 17274968 | Human | 2 | name |
| 150413942 | CV1177009 | single nucleotide variant | NM_152415.3(VPS37A):c.201-57A>G | not provided [RCV001547952] | likely benign | 8 | 17268201 | 17268201 | Human | | name |
| 150424650 | CV1184086 | single nucleotide variant | NM_152415.3(VPS37A):c.125+49C>G | not provided [RCV001556944] | likely benign | 8 | 17247418 | 17247418 | Human | | name |
| 150425637 | CV1184087 | single nucleotide variant | NM_152415.3(VPS37A):c.643-50C>T | not provided [RCV001558275] | likely benign | 8 | 17276347 | 17276347 | Human | | name |
| 150407724 | CV1194027 | single nucleotide variant | NM_152415.3(VPS37A):c.125+41T>G | not provided [RCV001572422] | likely benign | 8 | 17247410 | 17247410 | Human | | name |
| 150430847 | CV1204028 | single nucleotide variant | NM_152415.3(VPS37A):c.125+45A>G | not provided [RCV001580803] | likely benign | 8 | 17247414 | 17247414 | Human | | name |
| 150460345 | CV1236236 | single nucleotide variant | NM_152415.3(VPS37A):c.714-73A>G | not provided [RCV001649207] | benign | 8 | 17279955 | 17279955 | Human | | name |
| 152086904 | CV1601078 | single nucleotide variant | NM_152415.3(VPS37A):c.643-19A>C | Hereditary spastic paraplegia 53 [RCV002093609] | likely benign | 8 | 17276378 | 17276378 | Human | 1 | name |
| 155798159 | CV1860607 | single nucleotide variant | NM_152415.3(VPS37A):c.714-61T>C | not provided [RCV002467249] | likely benign | 8 | 17279967 | 17279967 | Human | | name |
| 156419327 | CV1923396 | single nucleotide variant | NM_152415.3(VPS37A):c.316-19C>T | Hereditary spastic paraplegia 53 [RCV002612557] | likely benign | 8 | 17268837 | 17268837 | Human | 1 | name |
| 156376930 | CV1930581 | single nucleotide variant | NM_152415.3(VPS37A):c.841+16C>T | Hereditary spastic paraplegia 53 [RCV002633914] | likely benign | 8 | 17280171 | 17280171 | Human | 1 | name |
| 156437001 | CV1936825 | single nucleotide variant | NM_152415.3(VPS37A):c.125+15C>T | Hereditary spastic paraplegia 53 [RCV003106528] | likely benign | 8 | 17247384 | 17247384 | Human | 1 | name |
| 156435633 | CV1940857 | single nucleotide variant | NM_152415.3(VPS37A):c.126-16A>C | Hereditary spastic paraplegia 53 [RCV003104959] | likely benign | 8 | 17265891 | 17265891 | Human | 1 | name |
| 156445434 | CV1943235 | single nucleotide variant | NM_152415.3(VPS37A):c.643-11C>T | Hereditary spastic paraplegia 53 [RCV003116377] | likely benign | 8 | 17276386 | 17276386 | Human | 1 | name |
| 156390437 | CV1964795 | single nucleotide variant | NM_152415.3(VPS37A):c.126-14A>C | Hereditary spastic paraplegia 53 [RCV002583819] | likely benign | 8 | 17265893 | 17265893 | Human | 1 | name |
| 156055312 | CV2003293 | single nucleotide variant | NM_152415.3(VPS37A):c.315+11G>A | Hereditary spastic paraplegia 53 [RCV002659500] | likely benign | 8 | 17268383 | 17268383 | Human | 1 | name |
| 156216687 | CV2047628 | single nucleotide variant | NM_152415.3(VPS37A):c.642+19C>G | Hereditary spastic paraplegia 53 [RCV002790467] | likely benign | 8 | 17274977 | 17274977 | Human | 1 | name |
| 156141017 | CV2109922 | single nucleotide variant | NM_152415.3(VPS37A):c.901-18T>C | Hereditary spastic paraplegia 53 [RCV002928555] | likely benign | 8 | 17280357 | 17280357 | Human | 1 | name |
| 401963751 | CV2843294 | single nucleotide variant | NM_152415.3(VPS37A):c.1113+1G>A | not specified [RCV003479636] | uncertain significance | 8 | 17284617 | 17284617 | Human | | name |
| 405144873 | CV2870166 | single nucleotide variant | NM_152415.3(VPS37A):c.841+12C>T | Hereditary spastic paraplegia 53 [RCV003537843] | likely benign | 8 | 17280167 | 17280167 | Human | 1 | name |
| 405148648 | CV2927493 | single nucleotide variant | NM_152415.3(VPS37A):c.841+19G>T | Hereditary spastic paraplegia 53 [RCV003538273] | likely benign | 8 | 17280174 | 17280174 | Human | 1 | name |
| 405039718 | CV3075124 | single nucleotide variant | NM_152415.3(VPS37A):c.417-20T>C | Hereditary spastic paraplegia 53 [RCV003653120] | likely benign | 8 | 17274713 | 17274713 | Human | 1 | name |
| 405204338 | CV3144090 | single nucleotide variant | NM_152415.3(VPS37A):c.201-10C>T | Hereditary spastic paraplegia 53 [RCV003844880] | likely benign | 8 | 17268248 | 17268248 | Human | 1 | name |
| 12842258 | CV371730 | single nucleotide variant | NM_152415.3(VPS37A):c.316-17T>C | Hereditary spastic paraplegia 53 [RCV002062371]|not provided [RCV004712813]|not specified [RCV000434076] | benign | 8 | 17268839 | 17268839 | Human | 1 | name |
| 597921644 | CV3843116 | single nucleotide variant | NM_152415.3(VPS37A):c.1114-5T>C | Hereditary spastic paraplegia 53 [RCV005184408] | likely benign | 8 | 17286342 | 17286342 | Human | 1 | name |
| 13540313 | CV502326 | single nucleotide variant | NM_152415.3(VPS37A):c.416+17T>C | Hereditary spastic paraplegia 53 [RCV002529421]|not specified [RCV000614522] | likely benign | 8 | 17268973 | 17268973 | Human | 1 | name |
| 13540724 | CV502425 | single nucleotide variant | NM_152415.3(VPS37A):c.315+14A>C | Hereditary spastic paraplegia 53 [RCV002063897]|not specified [RCV000615112] | benign|likely benign | 8 | 17268386 | 17268386 | Human | 1 | name |
| 14721145 | CV662749 | single nucleotide variant | NM_152415.3(VPS37A):c.315+76G>C | not provided [RCV000831546] | benign | 8 | 17268448 | 17268448 | Human | | name |
| 14742234 | CV662757 | single nucleotide variant | NM_152415.3(VPS37A):c.416+19A>G | not provided [RCV000841231] | likely benign | 8 | 17268975 | 17268975 | Human | | name |
| 14717248 | CV662763 | single nucleotide variant | NM_152415.3(VPS37A):c.841+23G>A | Hereditary spastic paraplegia 53 [RCV002245700]|not provided [RCV000830002] | benign | 8 | 17280178 | 17280178 | Human | 1 | name |
| 150425050 | CV1184088 | single nucleotide variant | NM_152415.3(VPS37A):c.714-276G>C | not provided [RCV001557492] | likely benign | 8 | 17279752 | 17279752 | Human | | name |
| 150427129 | CV1187328 | single nucleotide variant | NM_152415.3(VPS37A):c.642+141A>G | not provided [RCV001560524] | likely benign | 8 | 17275099 | 17275099 | Human | | name |
| 150476238 | CV1203009 | single nucleotide variant | NM_152415.3(VPS37A):c.969+187A>G | not provided [RCV001589603] | likely benign | 8 | 17280630 | 17280630 | Human | | name |
| 150435260 | CV1206952 | single nucleotide variant | NM_152415.3(VPS37A):c.969+236C>T | not provided [RCV001582301] | likely benign | 8 | 17280679 | 17280679 | Human | | name |
| 150441805 | CV1233601 | single nucleotide variant | NM_152415.3(VPS37A):c.970-250A>C | not provided [RCV001645289] | benign | 8 | 17284223 | 17284223 | Human | | name |
| 150500414 | CV1235918 | single nucleotide variant | NM_152415.3(VPS37A):c.1114-26G>C | Hereditary spastic paraplegia 53 [RCV002243364]|not provided [RCV001656601] | benign | 8 | 17286321 | 17286321 | Human | 1 | name |
| 150484387 | CV1250009 | deletion | NM_152415.3(VPS37A):c.643-200del | not provided [RCV001673622] | benign | 8 | 17276188 | 17276188 | Human | | name |
| 150466214 | CV1255702 | single nucleotide variant | NM_152415.3(VPS37A):c.417-339A>G | not provided [RCV001670336] | benign | 8 | 17274394 | 17274394 | Human | | name |
| 150515056 | CV1285412 | single nucleotide variant | NM_152415.3(VPS37A):c.201-120G>A | not provided [RCV001722865] | benign | 8 | 17268138 | 17268138 | Human | | name |
| 150504683 | CV1286006 | single nucleotide variant | NM_152415.3(VPS37A):c.201-189T>C | not provided [RCV001719429] | benign | 8 | 17268069 | 17268069 | Human | | name |
| 405086307 | CV2857671 | single nucleotide variant | NM_152415.3(VPS37A):c.1114-18C>T | Hereditary spastic paraplegia 53 [RCV003536066] | likely benign | 8 | 17286329 | 17286329 | Human | 1 | name |
| 405095498 | CV2910173 | single nucleotide variant | NM_152415.3(VPS37A):c.1113+13C>T | Hereditary spastic paraplegia 53 [RCV003536881] | likely benign | 8 | 17284629 | 17284629 | Human | 1 | name |
| 14715501 | CV662755 | single nucleotide variant | NM_152415.3(VPS37A):c.316-143A>G | not provided [RCV000829410] | benign | 8 | 17268713 | 17268713 | Human | | name |
| 14718182 | CV662759 | single nucleotide variant | NM_152415.3(VPS37A):c.643-291A>G | not provided [RCV000830311] | benign | 8 | 17276106 | 17276106 | Human | | name |
| 14715504 | CV663282 | single nucleotide variant | NM_152415.3(VPS37A):c.714-124G>A | not provided [RCV000829411] | benign | 8 | 17279904 | 17279904 | Human | | name |
| 14714571 | CV663303 | single nucleotide variant | NM_152415.3(VPS37A):c.200+257A>T | not provided [RCV000829082] | benign | 8 | 17266238 | 17266238 | Human | | name |
| 14714591 | CV663304 | single nucleotide variant | NM_152415.3(VPS37A):c.200+275A>T | not provided [RCV000829088] | benign | 8 | 17266256 | 17266256 | Human | | name |
| 14718192 | CV663305 | single nucleotide variant | NM_152415.3(VPS37A):c.643-251A>G | not provided [RCV000830314] | benign | 8 | 17276146 | 17276146 | Human | | name |
| 14721217 | CV663310 | single nucleotide variant | NM_152415.3(VPS37A):c.643-179C>G | not provided [RCV000831577] | benign | 8 | 17276218 | 17276218 | Human | | name |
| 14718196 | CV663329 | single nucleotide variant | NM_152415.3(VPS37A):c.970-256G>A | not provided [RCV000830315] | benign | 8 | 17284217 | 17284217 | Human | | name |
| 150424567 | CV1184089 | single nucleotide variant | NM_152415.3(VPS37A):c.1113+151T>C | not provided [RCV001556838] | likely benign | 8 | 17284767 | 17284767 | Human | | name |
| 150415681 | CV1190753 | single nucleotide variant | NM_152415.3(VPS37A):c.1113+191C>G | not provided [RCV001568094] | likely benign | 8 | 17284807 | 17284807 | Human | | name |
| 150411089 | CV1190754 | single nucleotide variant | NM_152415.3(VPS37A):c.1114-186T>C | not provided [RCV001566388] | likely benign | 8 | 17286161 | 17286161 | Human | | name |
| 150515649 | CV1227624 | single nucleotide variant | NM_152415.3(VPS37A):c.*1194+84C>A | not provided [RCV001638898] | benign | 8 | 17286511 | 17286511 | Human | | name |
| 152158177 | CV1630706 | single nucleotide variant | NM_152415.3(VPS37A):c.970-1604A>G | Hereditary spastic paraplegia 53 [RCV002122731] | benign | 8 | 17282869 | 17282869 | Human | 1 | name |
| 14715507 | CV663311 | single nucleotide variant | NM_152415.3(VPS37A):c.1113+214T>C | not provided [RCV000829412] | benign | 8 | 17284830 | 17284830 | Human | | name |
| 15126885 | CV683993 | single nucleotide variant | NM_152415.3(VPS37A):c.24C>T (p.Thr8=) | Hereditary spastic paraplegia 53 [RCV000862825]|Hereditary spastic paraplegia [RCV001849163]|not provided [RCV001597225] | benign|likely benign | 8 | 17247268 | 17247268 | Human | 2 | name |
| 151754048 | CV1335882 | single nucleotide variant | NM_152415.3(VPS37A):c.96G>T (p.Leu32=) | Hereditary spastic paraplegia [RCV001848282] | uncertain significance | 8 | 17247340 | 17247340 | Human | 1 | name |
| 405086319 | CV2857686 | single nucleotide variant | NM_152415.3(VPS37A):c.75C>G (p.Leu25=) | Hereditary spastic paraplegia 53 [RCV003536067] | likely benign | 8 | 17247319 | 17247319 | Human | 1 | name |
| 405042187 | CV3025597 | microsatellite | NM_152415.3(VPS37A):c.417-17_417-15del | Hereditary spastic paraplegia 53 [RCV003653798] | benign | 8 | 17274713 | 17274715 | Human | | name |
| 405039373 | CV3080341 | deletion | NM_152415.3(VPS37A):c.125+11_125+15del | Hereditary spastic paraplegia 53 [RCV003653085] | likely benign | 8 | 17247379 | 17247383 | Human | 1 | name |
| 13515276 | CV491800 | single nucleotide variant | NM_152415.3(VPS37A):c.99C>A (p.Ile33=) | Hereditary spastic paraplegia 53 [RCV001479000]|not provided [RCV000594079] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 17247343 | 17247343 | Human | 1 | name |
| 13622825 | CV523684 | single nucleotide variant | NM_152415.3(VPS37A):c.96G>C (p.Leu32=) | Hereditary spastic paraplegia 53 [RCV000650275]|VPS37A-related disorder [RCV003965386] | likely benign | 8 | 17247340 | 17247340 | Human | 1 | name , trait , alternate_id |
| 15191022 | CV736559 | single nucleotide variant | NM_152415.3(VPS37A):c.72C>T (p.Ser24=) | Hereditary spastic paraplegia 53 [RCV000910124] | likely benign | 8 | 17247316 | 17247316 | Human | 1 | name |
| 127310749 | CV1139339 | single nucleotide variant | NM_152415.3(VPS37A):c.162G>A (p.Leu54=) | Hereditary spastic paraplegia 53 [RCV001481216] | likely benign | 8 | 17265943 | 17265943 | Human | 1 | name |
| 10048559 | CV193741 | single nucleotide variant | NM_152415.3(VPS37A):c.202T>C (p.Leu68=) | Hereditary spastic paraplegia 53 [RCV001520865]|not provided [RCV004712156]|not specified [RCV000177407] | benign | 8 | 17268259 | 17268259 | Human | 1 | name |
| 156131519 | CV2022759 | single nucleotide variant | NM_152415.3(VPS37A):c.261A>G (p.Arg87=) | Hereditary spastic paraplegia 53 [RCV002740582] | likely benign | 8 | 17268318 | 17268318 | Human | 1 | name |
| 156315622 | CV2130329 | single nucleotide variant | NM_152415.3(VPS37A):c.157A>C (p.Arg53=) | Hereditary spastic paraplegia 53 [RCV002962885] | likely benign | 8 | 17265938 | 17265938 | Human | 1 | name |
| 405050858 | CV3150946 | single nucleotide variant | NM_152415.3(VPS37A):c.159A>G (p.Arg53=) | Hereditary spastic paraplegia 53 [RCV003849550]|not provided [RCV004810555] | likely benign | 8 | 17265940 | 17265940 | Human | 1 | name |
| 405255759 | CV3210810 | single nucleotide variant | NM_152415.3(VPS37A):c.174A>T (p.Ile58=) | VPS37A-related disorder [RCV003939321] | likely benign | 8 | 17265955 | 17265955 | Human | | name , trait , alternate_id |
| 597804244 | CV3626548 | single nucleotide variant | NM_152415.3(VPS37A):c.22A>C (p.Thr8Pro) | not specified [RCV004882153] | uncertain significance | 8 | 17247266 | 17247266 | Human | | name |
| 15125857 | CV683994 | single nucleotide variant | NM_152415.3(VPS37A):c.297C>G (p.Thr99=) | Hereditary spastic paraplegia 53 [RCV001499988]|VPS37A-related disorder [RCV003965655] | likely benign | 8 | 17268354 | 17268354 | Human | 1 | name , trait , alternate_id |
| 126753017 | CV1028457 | single nucleotide variant | NM_152415.3(VPS37A):c.642G>A (p.Pro214=) | Hereditary spastic paraplegia 53 [RCV001338526] | uncertain significance | 8 | 17274958 | 17274958 | Human | 1 | name |
| 127295061 | CV1118455 | single nucleotide variant | NM_152415.3(VPS37A):c.576C>T (p.Ala192=) | Hereditary spastic paraplegia 53 [RCV001452394] | likely benign | 8 | 17274892 | 17274892 | Human | 1 | name |
| 127293935 | CV1118456 | single nucleotide variant | NM_152415.3(VPS37A):c.606G>T (p.Leu202=) | Hereditary spastic paraplegia 53 [RCV001476691] | likely benign | 8 | 17274922 | 17274922 | Human | 1 | name |
| 150441781 | CV1204606 | deletion | NM_152415.3(VPS37A):c.714-216_714-215del | not provided [RCV001583713] | likely benign | 8 | 17279812 | 17279813 | Human | | name |
| 152153163 | CV1577760 | single nucleotide variant | NM_152415.3(VPS37A):c.420A>G (p.Leu140=) | Hereditary spastic paraplegia 53 [RCV002122045] | likely benign | 8 | 17274736 | 17274736 | Human | 1 | name |
| 152103696 | CV1645339 | single nucleotide variant | NM_152415.3(VPS37A):c.303A>G (p.Pro101=) | Hereditary spastic paraplegia 53 [RCV002133583] | likely benign | 8 | 17268360 | 17268360 | Human | 1 | name |
| 156157540 | CV1875565 | single nucleotide variant | NM_152415.3(VPS37A):c.660T>C (p.Phe220=) | Hereditary spastic paraplegia 53 [RCV003056770] | likely benign | 8 | 17276414 | 17276414 | Human | 1 | name |
| 156014084 | CV1912625 | single nucleotide variant | NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly) | Hereditary spastic paraplegia 53 [RCV002619053] | uncertain significance | 8 | 17247276 | 17247276 | Human | 1 | name |
| 156290939 | CV1926507 | single nucleotide variant | NM_152415.3(VPS37A):c.699A>G (p.Glu233=) | Hereditary spastic paraplegia 53 [RCV002628811] | likely benign | 8 | 17276453 | 17276453 | Human | 1 | name |
| 156223952 | CV1962279 | single nucleotide variant | NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser) | Hereditary spastic paraplegia 53 [RCV002596561] | uncertain significance | 8 | 17247275 | 17247275 | Human | 1 | name |
| 156106732 | CV2096453 | single nucleotide variant | NM_152415.3(VPS37A):c.882A>G (p.Arg294=) | Hereditary spastic paraplegia 53 [RCV002913609] | likely benign | 8 | 17280279 | 17280279 | Human | 1 | name |
| 156095061 | CV2114299 | single nucleotide variant | NM_152415.3(VPS37A):c.852C>A (p.Leu284=) | Hereditary spastic paraplegia 53 [RCV002926826] | likely benign | 8 | 17280249 | 17280249 | Human | 1 | name |
| 401746784 | CV2690969 | single nucleotide variant | NM_152415.3(VPS37A):c.77A>C (p.Gln26Pro) | not specified [RCV004300993] | uncertain significance | 8 | 17247321 | 17247321 | Human | | name |
| 405142574 | CV2879641 | single nucleotide variant | NM_152415.3(VPS37A):c.912T>C (p.Leu304=) | Hereditary spastic paraplegia 53 [RCV003537656] | likely benign | 8 | 17280386 | 17280386 | Human | 1 | name |
| 405080636 | CV2897833 | single nucleotide variant | NM_152415.3(VPS37A):c.975T>C (p.Cys325=) | Hereditary spastic paraplegia 53 [RCV003535121] | likely benign | 8 | 17284478 | 17284478 | Human | 1 | name |
| 405083567 | CV2906390 | single nucleotide variant | NM_152415.3(VPS37A):c.438G>A (p.Gly146=) | Hereditary spastic paraplegia 53 [RCV003535385] | likely benign | 8 | 17274754 | 17274754 | Human | 1 | name |
| 405015228 | CV2965542 | single nucleotide variant | NM_152415.3(VPS37A):c.801C>T (p.Thr267=) | Hereditary spastic paraplegia 53 [RCV003649757] | likely benign | 8 | 17280115 | 17280115 | Human | 1 | name |
| 405023545 | CV2980367 | single nucleotide variant | NM_152415.3(VPS37A):c.915A>G (p.Thr305=) | Hereditary spastic paraplegia 53 [RCV003651140] | likely benign | 8 | 17280389 | 17280389 | Human | 1 | name |
| 405041953 | CV3018420 | single nucleotide variant | NM_152415.3(VPS37A):c.600A>T (p.Ser200=) | Hereditary spastic paraplegia 53 [RCV003653775] | likely benign | 8 | 17274916 | 17274916 | Human | 1 | name |
| 405016938 | CV3043448 | single nucleotide variant | NM_152415.3(VPS37A):c.777G>A (p.Leu259=) | Hereditary spastic paraplegia 53 [RCV003649938] | likely benign | 8 | 17280091 | 17280091 | Human | 1 | name |
| 597893298 | CV3763477 | single nucleotide variant | NM_152415.3(VPS37A):c.702C>T (p.Leu234=) | Hereditary spastic paraplegia 53 [RCV005111057] | likely benign | 8 | 17276456 | 17276456 | Human | 1 | name |
| 13520314 | CV493591 | single nucleotide variant | NM_152415.3(VPS37A):c.61G>A (p.Gly21Ser) | not provided [RCV000598536] | uncertain significance | 8 | 17247305 | 17247305 | Human | | name |
| 13622826 | CV523687 | single nucleotide variant | NM_152415.3(VPS37A):c.834A>G (p.Glu278=) | Hereditary spastic paraplegia 53 [RCV001088948]|not provided [RCV000833000] | benign|likely benign | 8 | 17280148 | 17280148 | Human | 1 | name |
| 15131450 | CV683995 | single nucleotide variant | NM_152415.3(VPS37A):c.418C>T (p.Leu140=) | Hereditary spastic paraplegia 53 [RCV002538929]|Hereditary spastic paraplegia [RCV001847041] | benign|likely benign | 8 | 17274734 | 17274734 | Human | 2 | name |
| 15162614 | CV687250 | single nucleotide variant | NM_152415.3(VPS37A):c.918G>A (p.Gln306=) | Hereditary spastic paraplegia 53 [RCV003653410]|not specified [RCV003479232] | likely benign | 8 | 17280392 | 17280392 | Human | 1 | name |
| 15109950 | CV783062 | single nucleotide variant | NM_152415.3(VPS37A):c.513T>C (p.Thr171=) | not provided [RCV000977339] | likely benign | 8 | 17274829 | 17274829 | Human | | name |
| 126744386 | CV1017024 | single nucleotide variant | NM_152415.3(VPS37A):c.215A>T (p.Gln72Leu) | Hereditary spastic paraplegia 53 [RCV001330426] | uncertain significance | 8 | 17268272 | 17268272 | Human | 1 | name |
| 156024610 | CV1892579 | single nucleotide variant | NM_152415.3(VPS37A):c.1158G>A (p.Ala386=) | Hereditary spastic paraplegia 53 [RCV003077800] | likely benign | 8 | 17286391 | 17286391 | Human | 1 | name |
| 156085573 | CV1898936 | single nucleotide variant | NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg) | Hereditary spastic paraplegia 53 [RCV003080025] | uncertain significance | 8 | 17268272 | 17268272 | Human | 1 | name |
| 405152378 | CV2885908 | single nucleotide variant | NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr) | Hereditary spastic paraplegia 53 [RCV003539001] | uncertain significance | 8 | 17265944 | 17265944 | Human | 1 | name |
| 405022163 | CV2988761 | single nucleotide variant | NM_152415.3(VPS37A):c.258A>G (p.Ile86Met) | Hereditary spastic paraplegia 53 [RCV003650996] | uncertain significance | 8 | 17268315 | 17268315 | Human | 1 | name |
| 405046064 | CV3036314 | single nucleotide variant | NM_152415.3(VPS37A):c.1191A>G (p.Leu397=) | Hereditary spastic paraplegia 53 [RCV003654128] | uncertain significance | 8 | 17286424 | 17286424 | Human | 1 | name |
| 405811515 | CV3342110 | single nucleotide variant | NM_152415.3(VPS37A):c.172A>G (p.Ile58Val) | not specified [RCV004482823] | likely benign | 8 | 17265953 | 17265953 | Human | | name |
| 407532583 | CV3491406 | single nucleotide variant | NM_152415.3(VPS37A):c.187A>G (p.Ile63Val) | not specified [RCV004683228] | uncertain significance | 8 | 17265968 | 17265968 | Human | | name |
| 597804247 | CV3626550 | single nucleotide variant | NM_152415.3(VPS37A):c.214C>G (p.Gln72Glu) | not specified [RCV004882155] | uncertain significance | 8 | 17268271 | 17268271 | Human | | name |
| 12835806 | CV369453 | single nucleotide variant | NM_152415.3(VPS37A):c.1053C>T (p.Asp351=) | Hereditary spastic paraplegia 53 [RCV001520866]|not provided [RCV004712810]|not specified [RCV000422321] | benign | 8 | 17284556 | 17284556 | Human | 1 | name |
| 597952812 | CV3798839 | single nucleotide variant | NM_152415.3(VPS37A):c.131C>A (p.Ala44Asp) | Hereditary spastic paraplegia 53 [RCV005136413] | uncertain significance | 8 | 17265912 | 17265912 | Human | 1 | name |
| 13501633 | CV458285 | single nucleotide variant | NM_152415.3(VPS37A):c.1176A>G (p.Gln392=) | Hereditary spastic paraplegia 53 [RCV000541127]|Hereditary spastic paraplegia [RCV001848965]|not provided [RCV001729640] | benign|likely benign | 8 | 17286409 | 17286409 | Human | 2 | name |
| 26903578 | CV834522 | single nucleotide variant | NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn) | Hereditary spastic paraplegia 53 [RCV001070363] | uncertain significance | 8 | 17268353 | 17268353 | Human | 1 | name |
| 126756706 | CV1028456 | single nucleotide variant | NM_152415.3(VPS37A):c.451G>T (p.Ala151Ser) | Hereditary spastic paraplegia 53 [RCV001339356] | uncertain significance | 8 | 17274767 | 17274767 | Human | 1 | name |
| 126771541 | CV1028458 | single nucleotide variant | NM_152415.3(VPS37A):c.745G>A (p.Glu249Lys) | Hereditary spastic paraplegia 53 [RCV001345102]|not specified [RCV004681127] | uncertain significance | 8 | 17280059 | 17280059 | Human | 1 | name |
| 126727765 | CV1028459 | single nucleotide variant | NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly) | Hereditary spastic paraplegia 53 [RCV001348770]|Hereditary spastic paraplegia [RCV001847250]|not specified [RCV004877704] | uncertain significance | 8 | 17280126 | 17280126 | Human | 2 | name |
| 127287189 | CV1152298 | single nucleotide variant | NM_152415.3(VPS37A):c.434G>A (p.Ser145Asn) | not provided [RCV001507721]|not specified [RCV004037877] | uncertain significance | 8 | 17274750 | 17274750 | Human | | name |
| 150551518 | CV1292765 | single nucleotide variant | NM_152415.3(VPS37A):c.355C>G (p.Leu119Val) | not provided [RCV001754373] | uncertain significance | 8 | 17268895 | 17268895 | Human | | name |
| 150554270 | CV1296677 | single nucleotide variant | NM_152415.3(VPS37A):c.478C>G (p.Pro160Ala) | not provided [RCV001770914] | uncertain significance | 8 | 17274794 | 17274794 | Human | | name |
| 151753993 | CV1335875 | single nucleotide variant | NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser) | Hereditary spastic paraplegia [RCV001848275] | uncertain significance | 8 | 17268938 | 17268938 | Human | 1 | name |
| 151754000 | CV1335876 | single nucleotide variant | NM_152415.3(VPS37A):c.539C>G (p.Ser180Cys) | Hereditary spastic paraplegia [RCV001848276] | uncertain significance | 8 | 17274855 | 17274855 | Human | 1 | name |
| 151754009 | CV1335877 | single nucleotide variant | NM_152415.3(VPS37A):c.556C>A (p.His186Asn) | Hereditary spastic paraplegia [RCV001848277]|not specified [RCV004887680] | uncertain significance | 8 | 17274872 | 17274872 | Human | 1 | name |
| 151754020 | CV1335878 | single nucleotide variant | NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg) | Hereditary spastic paraplegia 53 [RCV002543381]|Hereditary spastic paraplegia [RCV001848278]|not provided [RCV002261392] | uncertain significance | 8 | 17276402 | 17276402 | Human | 2 | name |
| 151754026 | CV1335879 | single nucleotide variant | NM_152415.3(VPS37A):c.853C>G (p.Leu285Val) | Hereditary spastic paraplegia [RCV001848279] | uncertain significance | 8 | 17280250 | 17280250 | Human | 1 | name |
| 151754032 | CV1335880 | single nucleotide variant | NM_152415.3(VPS37A):c.928A>G (p.Thr310Ala) | Hereditary spastic paraplegia [RCV001848280]|not specified [RCV004038700] | uncertain significance | 8 | 17280402 | 17280402 | Human | 1 | name |
| 151754041 | CV1335881 | single nucleotide variant | NM_152415.3(VPS37A):c.929C>T (p.Thr310Ile) | Hereditary spastic paraplegia [RCV001848281] | uncertain significance | 8 | 17280403 | 17280403 | Human | 1 | name |
| 151811661 | CV1350612 | single nucleotide variant | NM_152415.3(VPS37A):c.802G>A (p.Asp268Asn) | Hereditary spastic paraplegia 53 [RCV002048914] | uncertain significance | 8 | 17280116 | 17280116 | Human | 1 | name |
| 151733755 | CV1397984 | single nucleotide variant | NM_152415.3(VPS37A):c.560C>T (p.Thr187Ile) | Hereditary spastic paraplegia 53 [RCV002005045] | uncertain significance | 8 | 17274876 | 17274876 | Human | 1 | name |
| 151833412 | CV1478956 | single nucleotide variant | NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg) | Hereditary spastic paraplegia 53 [RCV002050947] | uncertain significance | 8 | 17280105 | 17280105 | Human | 1 | name |
| 151838022 | CV1487313 | single nucleotide variant | NM_152415.3(VPS37A):c.892T>A (p.Leu298Ile) | Hereditary spastic paraplegia 53 [RCV001935768]|not specified [RCV004043536] | uncertain significance | 8 | 17280289 | 17280289 | Human | 1 | name |
| 151787467 | CV1495579 | single nucleotide variant | NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser) | Hereditary spastic paraplegia 53 [RCV002026872] | uncertain significance | 8 | 17280271 | 17280271 | Human | 1 | name |
| 155706061 | CV1772599 | single nucleotide variant | NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys) | Hereditary spastic paraplegia 53 [RCV002300276]|not specified [RCV004047702] | uncertain significance | 8 | 17280378 | 17280378 | Human | 1 | name |
| 156411996 | CV1890253 | single nucleotide variant | NM_152415.3(VPS37A):c.644C>G (p.Thr215Arg) | Hereditary spastic paraplegia 53 [RCV003072714] | uncertain significance | 8 | 17276398 | 17276398 | Human | 1 | name |
| 155982443 | CV1896812 | single nucleotide variant | NM_152415.3(VPS37A):c.751G>A (p.Val251Ile) | Hereditary spastic paraplegia 53 [RCV003097451] | uncertain significance | 8 | 17280065 | 17280065 | Human | 1 | name |
| 156133878 | CV1914423 | single nucleotide variant | NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr) | Hereditary spastic paraplegia 53 [RCV002623414] | uncertain significance | 8 | 17280424 | 17280424 | Human | 1 | name |
| 156410736 | CV1929068 | single nucleotide variant | NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr) | Hereditary spastic paraplegia 53 [RCV002607963] | uncertain significance | 8 | 17280032 | 17280032 | Human | 1 | name |
| 156158872 | CV1933099 | single nucleotide variant | NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr) | Hereditary spastic paraplegia 53 [RCV002624290]|not specified [RCV004070764] | uncertain significance | 8 | 17280141 | 17280141 | Human | 1 | name |
| 156434022 | CV1946743 | single nucleotide variant | NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr) | Hereditary spastic paraplegia 53 [RCV003104203] | uncertain significance | 8 | 17276439 | 17276439 | Human | 1 | name |
| 156345301 | CV1989062 | single nucleotide variant | NM_152415.3(VPS37A):c.735G>A (p.Met245Ile) | Hereditary spastic paraplegia 53 [RCV002631647] | uncertain significance | 8 | 17280049 | 17280049 | Human | 1 | name |
| 156209615 | CV2117664 | single nucleotide variant | NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile) | Hereditary spastic paraplegia 53 [RCV002957688] | uncertain significance | 8 | 17268944 | 17268944 | Human | 1 | name |
| 156392896 | CV2123662 | single nucleotide variant | NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg) | Hereditary spastic paraplegia 53 [RCV002944093] | uncertain significance | 8 | 17280135 | 17280135 | Human | 1 | name |
| 156020260 | CV2230308 | single nucleotide variant | NM_152415.3(VPS37A):c.641C>T (p.Pro214Leu) | Hereditary spastic paraplegia 53 [RCV003534965]|not specified [RCV004099918] | uncertain significance | 8 | 17274957 | 17274957 | Human | 1 | name |
| 155912140 | CV2235520 | single nucleotide variant | NM_152415.3(VPS37A):c.670A>T (p.Met224Leu) | not specified [RCV004109556] | uncertain significance | 8 | 17276424 | 17276424 | Human | | name |
| 156281386 | CV2321862 | single nucleotide variant | NM_152415.3(VPS37A):c.577G>A (p.Ala193Thr) | Hereditary spastic paraplegia 53 [RCV003534973]|not specified [RCV004179839] | uncertain significance | 8 | 17274893 | 17274893 | Human | 1 | name |
| 329352133 | CV2452070 | single nucleotide variant | NM_152415.3(VPS37A):c.667A>C (p.Lys223Gln) | not specified [RCV004278794] | uncertain significance | 8 | 17276421 | 17276421 | Human | | name |
| 11640336 | CV268394 | single nucleotide variant | NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) | Hereditary spastic paraplegia 53 [RCV000861965]|Hereditary spastic paraplegia [RCV001848055]|not provided [RCV004705139]|not specified [RCV000337249] | benign|likely benign | 8 | 17274953 | 17274953 | Human | 2 | name |
| 401890580 | CV2768317 | single nucleotide variant | NM_152415.3(VPS37A):c.406G>A (p.Ala136Thr) | not specified [RCV004350298] | uncertain significance | 8 | 17268946 | 17268946 | Human | | name |
| 401872874 | CV2793020 | single nucleotide variant | NM_152415.3(VPS37A):c.955C>A (p.His319Asn) | not specified [RCV004360354] | uncertain significance | 8 | 17280429 | 17280429 | Human | | name |
| 401961707 | CV2844029 | single nucleotide variant | NM_152415.3(VPS37A):c.449A>T (p.Tyr150Phe) | not provided [RCV003481869] | uncertain significance | 8 | 17274765 | 17274765 | Human | | name |
| 405144864 | CV2891012 | single nucleotide variant | NM_152415.3(VPS37A):c.512C>T (p.Thr171Ile) | Hereditary spastic paraplegia 53 [RCV003537891] | uncertain significance | 8 | 17274828 | 17274828 | Human | 1 | name |
| 405094615 | CV2920002 | single nucleotide variant | NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp) | Hereditary spastic paraplegia 53 [RCV003536787] | uncertain significance | 8 | 17276410 | 17276410 | Human | 1 | name |
| 405015060 | CV2975511 | single nucleotide variant | NM_152415.3(VPS37A):c.817G>A (p.Val273Ile) | Hereditary spastic paraplegia 53 [RCV003649736] | uncertain significance | 8 | 17280131 | 17280131 | Human | 1 | name |
| 405023926 | CV2980366 | single nucleotide variant | NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile) | Hereditary spastic paraplegia 53 [RCV003651139] | uncertain significance | 8 | 17280051 | 17280051 | Human | 1 | name |
| 405021047 | CV2980989 | single nucleotide variant | NM_152415.3(VPS37A):c.571C>G (p.Pro191Ala) | Hereditary spastic paraplegia 53 [RCV003650875] | uncertain significance | 8 | 17274887 | 17274887 | Human | 1 | name |
| 405043082 | CV3026376 | single nucleotide variant | NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg) | Hereditary spastic paraplegia 53 [RCV003653877] | uncertain significance | 8 | 17280262 | 17280262 | Human | 1 | name |
| 405017025 | CV3053374 | single nucleotide variant | NM_152415.3(VPS37A):c.676G>C (p.Asp226His) | Hereditary spastic paraplegia 53 [RCV003649946] | uncertain significance | 8 | 17276430 | 17276430 | Human | 1 | name |
| 405037640 | CV3079052 | single nucleotide variant | NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg) | Hereditary spastic paraplegia 53 [RCV003652842]|not specified [RCV004374290] | uncertain significance | 8 | 17284492 | 17284492 | Human | 1 | name |
| 405710571 | CV3225788 | single nucleotide variant | NM_152415.3(VPS37A):c.898A>C (p.Lys300Gln) | Hereditary spastic paraplegia 53 [RCV003990846] | uncertain significance | 8 | 17280295 | 17280295 | Human | 1 | name |
| 407532584 | CV3491407 | single nucleotide variant | NM_152415.3(VPS37A):c.986C>T (p.Ala329Val) | not specified [RCV004683229] | uncertain significance | 8 | 17284489 | 17284489 | Human | | name |
| 407532585 | CV3491408 | single nucleotide variant | NM_152415.3(VPS37A):c.932T>A (p.Phe311Tyr) | not specified [RCV004683230] | uncertain significance | 8 | 17280406 | 17280406 | Human | | name |
| 407532586 | CV3491409 | single nucleotide variant | NM_152415.3(VPS37A):c.340A>C (p.Lys114Gln) | not specified [RCV004683231] | uncertain significance | 8 | 17268880 | 17268880 | Human | | name |
| 597698965 | CV3626545 | single nucleotide variant | NM_152415.3(VPS37A):c.550A>G (p.Thr184Ala) | not specified [RCV004885464] | uncertain significance | 8 | 17274866 | 17274866 | Human | | name |
| 597804242 | CV3626546 | single nucleotide variant | NM_152415.3(VPS37A):c.629A>G (p.Asp210Gly) | not specified [RCV004882152] | uncertain significance | 8 | 17274945 | 17274945 | Human | | name |
| 597698975 | CV3626547 | single nucleotide variant | NM_152415.3(VPS37A):c.940A>G (p.Lys314Glu) | not specified [RCV004885465] | uncertain significance | 8 | 17280414 | 17280414 | Human | | name |
| 597804246 | CV3626549 | single nucleotide variant | NM_152415.3(VPS37A):c.445C>A (p.Pro149Thr) | not specified [RCV004882154] | uncertain significance | 8 | 17274761 | 17274761 | Human | | name |
| 12836196 | CV369870 | single nucleotide variant | NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe) | Hereditary spastic paraplegia 53 [RCV000556254]|Hereditary spastic paraplegia [RCV001848770]|not provided [RCV003437181]|not specified [RCV000422990] | benign | 8 | 17274932 | 17274932 | Human | 2 | name |
| 597907879 | CV3806042 | single nucleotide variant | NM_152415.3(VPS37A):c.350A>G (p.Gln117Arg) | Hereditary spastic paraplegia 53 [RCV005153800] | uncertain significance | 8 | 17268890 | 17268890 | Human | 1 | name |
| 597867896 | CV3838805 | single nucleotide variant | NM_152415.3(VPS37A):c.533C>G (p.Thr178Ser) | Hereditary spastic paraplegia 53 [RCV005176101] | uncertain significance | 8 | 17274849 | 17274849 | Human | 1 | name |
| 598255477 | CV3925984 | single nucleotide variant | NM_152415.3(VPS37A):c.738T>A (p.Asn246Lys) | not specified [RCV005299429] | uncertain significance | 8 | 17280052 | 17280052 | Human | | name |
| 13473984 | CV458281 | single nucleotide variant | NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn) | Hereditary spastic paraplegia 53 [RCV000525624] | uncertain significance | 8 | 17280263 | 17280263 | Human | 1 | name |
| 13526532 | CV513201 | single nucleotide variant | NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) | Hereditary spastic paraplegia 53 [RCV000650274]|Idiopathic transverse myelitis [RCV000625725]|not provided [RCV001528188] | pathogenic|uncertain significance | 8 | 17276454 | 17276454 | Human | 2 | name |
| 13804240 | CV562252 | single nucleotide variant | NM_152415.3(VPS37A):c.526G>T (p.Ala176Ser) | Hereditary spastic paraplegia 53 [RCV000699541]|not specified [RCV004026478] | uncertain significance | 8 | 17274842 | 17274842 | Human | 1 | name |
| 13812843 | CV562253 | single nucleotide variant | NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln) | Hereditary spastic paraplegia 53 [RCV000689767]|not specified [RCV004026337] | uncertain significance | 8 | 17280101 | 17280101 | Human | 1 | name |
| 13811194 | CV562777 | single nucleotide variant | NM_152415.3(VPS37A):c.430C>A (p.Pro144Thr) | Hereditary spastic paraplegia 53 [RCV000702964]|not specified [RCV004026611] | uncertain significance | 8 | 17274746 | 17274746 | Human | 1 | name |
| 13821903 | CV562781 | single nucleotide variant | NM_152415.3(VPS37A):c.512C>G (p.Thr171Ser) | Hereditary spastic paraplegia 53 [RCV000696539] | uncertain significance | 8 | 17274828 | 17274828 | Human | 1 | name |
| 13814775 | CV567730 | single nucleotide variant | NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser) | Hereditary spastic paraplegia 53 [RCV000691108] | uncertain significance | 8 | 17274893 | 17274893 | Human | 1 | name |
| 13832735 | CV583693 | single nucleotide variant | NM_152415.3(VPS37A):c.412C>T (p.Pro138Ser) | not provided [RCV000727680] | uncertain significance | 8 | 17268952 | 17268952 | Human | | name |
| 14701238 | CV637007 | single nucleotide variant | NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn) | Hereditary spastic paraplegia 53 [RCV000814906] | uncertain significance | 8 | 17268901 | 17268901 | Human | 1 | name |
| 14715414 | CV637008 | single nucleotide variant | NM_152415.3(VPS37A):c.421T>C (p.Tyr141His) | Hereditary spastic paraplegia 53 [RCV000800500] | uncertain significance | 8 | 17274737 | 17274737 | Human | 1 | name |
| 15124423 | CV683996 | single nucleotide variant | NM_152415.3(VPS37A):c.446C>T (p.Pro149Leu) | Hereditary spastic paraplegia 53 [RCV000862411]|VPS37A-related disorder [RCV003948070] | likely benign | 8 | 17274762 | 17274762 | Human | 1 | name , trait , alternate_id |
| 26899838 | CV834523 | single nucleotide variant | NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr) | Hereditary spastic paraplegia 53 [RCV001047017] | uncertain significance | 8 | 17274842 | 17274842 | Human | 1 | name |
| 26902499 | CV834524 | single nucleotide variant | NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro) | Hereditary spastic paraplegia 53 [RCV001065212] | uncertain significance | 8 | 17274848 | 17274848 | Human | 1 | name |
| 26900138 | CV834525 | single nucleotide variant | NM_152415.3(VPS37A):c.625G>A (p.Val209Met) | Hereditary spastic paraplegia 53 [RCV001048832] | uncertain significance | 8 | 17274941 | 17274941 | Human | 1 | name |
| 38486337 | CV945995 | single nucleotide variant | NM_152415.3(VPS37A):c.623C>T (p.Thr208Ile) | Hereditary spastic paraplegia 53 [RCV001237167] | uncertain significance | 8 | 17274939 | 17274939 | Human | 1 | name |
| 38460912 | CV955377 | single nucleotide variant | NM_152415.3(VPS37A):c.424A>T (p.Ser142Cys) | Hereditary spastic paraplegia 53 [RCV001246834]|not specified [RCV005298755] | uncertain significance | 8 | 17274740 | 17274740 | Human | 1 | name |
| 126760620 | CV992711 | single nucleotide variant | NM_152415.3(VPS37A):c.424A>G (p.Ser142Gly) | Hereditary spastic paraplegia 53 [RCV001309369]|not specified [RCV004034204] | uncertain significance | 8 | 17274740 | 17274740 | Human | 1 | name |
| 155796884 | CV1863038 | single nucleotide variant | NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val) | Hereditary spastic paraplegia 53 [RCV002470312]|not specified [RCV004067600] | likely benign|uncertain significance | 8 | 17286390 | 17286390 | Human | 1 | name |
| 156288075 | CV1929838 | single nucleotide variant | NM_152415.3(VPS37A):c.1168C>T (p.His390Tyr) | Hereditary spastic paraplegia 53 [RCV002628697]|VPS37A-related disorder [RCV003953946] | likely benign|uncertain significance | 8 | 17286401 | 17286401 | Human | 1 | name , trait , alternate_id |
| 156101257 | CV2260321 | single nucleotide variant | NM_152415.3(VPS37A):c.1076T>C (p.Ile359Thr) | not specified [RCV004129408] | uncertain significance | 8 | 17284579 | 17284579 | Human | | name |
| 329390184 | CV2453575 | single nucleotide variant | NM_152415.3(VPS37A):c.1094G>A (p.Ser365Asn) | not specified [RCV004269248] | uncertain significance | 8 | 17284597 | 17284597 | Human | | name |
| 401961708 | CV2844030 | single nucleotide variant | NM_152415.3(VPS37A):c.1154A>C (p.Gln385Pro) | not provided [RCV003481870]|not specified [RCV004364841] | uncertain significance | 8 | 17286387 | 17286387 | Human | | name |
| 405811513 | CV3342109 | single nucleotide variant | NM_152415.3(VPS37A):c.1159A>T (p.Ile387Leu) | not specified [RCV004482822] | uncertain significance | 8 | 17286392 | 17286392 | Human | | name |
| 597909486 | CV3782016 | single nucleotide variant | NM_152415.3(VPS37A):c.1081G>A (p.Asp361Asn) | Hereditary spastic paraplegia 53 [RCV005128508] | uncertain significance | 8 | 17284584 | 17284584 | Human | 1 | name |
| 597942164 | CV3847194 | single nucleotide variant | NM_152415.3(VPS37A):c.1165A>G (p.Met389Val) | Hereditary spastic paraplegia 53 [RCV005188114] | uncertain significance | 8 | 17286398 | 17286398 | Human | 1 | name |
| 13475377 | CV457690 | single nucleotide variant | NM_152415.3(VPS37A):c.1145A>C (p.Lys382Thr) | Hereditary spastic paraplegia 53 [RCV000526260] | uncertain significance | 8 | 17286378 | 17286378 | Human | 1 | name |
| 8570619 | CV48340 | single nucleotide variant | NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn) | Hereditary spastic paraplegia 53 [RCV000032956] | pathogenic | 8 | 17286379 | 17286379 | Human | 1 | name |
| 14702215 | CV637009 | single nucleotide variant | NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu) | Hereditary spastic paraplegia 53 [RCV000822772] | uncertain significance | 8 | 17284556 | 17284556 | Human | 1 | name |
| 14702105 | CV637010 | single nucleotide variant | NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser) | Hereditary spastic paraplegia 53 [RCV000821746]|not specified [RCV004029081] | uncertain significance | 8 | 17286395 | 17286395 | Human | 1 | name |
| 15167604 | CV687251 | single nucleotide variant | NM_152415.3(VPS37A):c.1192T>C (p.Ter398Gln) | Hereditary spastic paraplegia 53 [RCV003537314] | likely benign | 8 | 17286425 | 17286425 | Human | 1 | name |
| 26902840 | CV834526 | single nucleotide variant | NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu) | Hereditary spastic paraplegia 53 [RCV001066505] | uncertain significance | 8 | 17286398 | 17286398 | Human | 1 | name |
| 8632916 | CV88131 | single nucleotide variant | NM_152415.2(VPS37A):c.1003A>G (p.Lys335Glu) | Malignant melanoma [RCV000068223] | not provided | 8 | 17284506 | 17284506 | Human | | name |
| 405036616 | CV3073449 | microsatellite | NM_152415.3(VPS37A):c.545CAA[2] (p.Thr184del) | Hereditary spastic paraplegia 53 [RCV003652812] | uncertain significance | 8 | 17274861 | 17274863 | Human | | name |
