| 15136953 | CV776588 | single nucleotide variant | NM_005151.4(USP14):c.17-3C>T | not provided [RCV000943159] | likely benign | 18 | 163305 | 163305 | Human | | name |
| 15192982 | CV776768 | single nucleotide variant | NM_005151.4(USP14):c.17-6T>C | not provided [RCV000933238] | likely benign | 18 | 163302 | 163302 | Human | | name |
| 150474373 | CV1217791 | single nucleotide variant | NM_005151.4(USP14):c.943-17A>C | not provided [RCV001615802] | benign | 18 | 203081 | 203081 | Human | | name |
| 15097646 | CV727656 | single nucleotide variant | NM_005151.4(USP14):c.105G>A (p.Ala35=) | not provided [RCV000891550] | benign | 18 | 163396 | 163396 | Human | | name |
| 401865655 | CV2778861 | single nucleotide variant | NM_005151.4(USP14):c.50G>A (p.Gly17Asp) | not specified [RCV004346750] | uncertain significance | 18 | 163341 | 163341 | Human | | name |
| 405814655 | CV3341639 | single nucleotide variant | NM_005151.4(USP14):c.79A>G (p.Met27Val) | not specified [RCV004484525] | uncertain significance | 18 | 163370 | 163370 | Human | | name |
| 598275132 | CV3936452 | single nucleotide variant | NM_005151.4(USP14):c.29G>T (p.Trp10Leu) | not specified [RCV005304275] | uncertain significance | 18 | 163320 | 163320 | Human | | name |
| 156267332 | CV2296621 | single nucleotide variant | NM_005151.4(USP14):c.227A>T (p.Asp76Val) | not specified [RCV004154679] | uncertain significance | 18 | 178964 | 178964 | Human | | name |
| 156038956 | CV2313693 | single nucleotide variant | NM_005151.4(USP14):c.136G>A (p.Val46Ile) | not specified [RCV004157611] | uncertain significance | 18 | 163427 | 163427 | Human | | name |
| 401866797 | CV2759009 | single nucleotide variant | NM_005151.4(USP14):c.281A>G (p.Glu94Gly) | not specified [RCV004342318] | uncertain significance | 18 | 179018 | 179018 | Human | | name |
| 598275136 | CV3936454 | single nucleotide variant | NM_005151.4(USP14):c.226G>C (p.Asp76His) | not specified [RCV005304277] | uncertain significance | 18 | 178963 | 178963 | Human | | name |
| 15097960 | CV704547 | single nucleotide variant | NM_005151.4(USP14):c.1395G>T (p.Arg465=) | not provided [RCV000958438] | benign | 18 | 211194 | 211194 | Human | | name |
| 15168653 | CV715894 | single nucleotide variant | NM_005151.4(USP14):c.1074G>C (p.Leu358=) | not provided [RCV000971659] | benign | 18 | 204602 | 204602 | Human | | name |
| 15123076 | CV715895 | single nucleotide variant | NM_005151.4(USP14):c.1428C>T (p.Tyr476=) | not provided [RCV000963178] | likely benign | 18 | 211227 | 211227 | Human | | name |
| 15122510 | CV741305 | single nucleotide variant | NM_005151.4(USP14):c.1293T>C (p.Ser431=) | not provided [RCV000896251] | benign | 18 | 210453 | 210453 | Human | | name |
| 15126117 | CV756384 | single nucleotide variant | NM_005151.4(USP14):c.1057T>C (p.Leu353=) | not provided [RCV000919269] | likely benign | 18 | 204585 | 204585 | Human | | name |
| 15199484 | CV756385 | single nucleotide variant | NM_005151.4(USP14):c.1314A>G (p.Ser438=) | not provided [RCV000912560] | likely benign | 18 | 210474 | 210474 | Human | | name |
| 15104884 | CV756386 | single nucleotide variant | NM_005151.4(USP14):c.1386T>C (p.Asp462=) | not provided [RCV000915437] | likely benign | 18 | 211185 | 211185 | Human | | name |
| 156363536 | CV2265757 | single nucleotide variant | NM_005151.4(USP14):c.851A>T (p.Lys284Met) | not specified [RCV004124465] | uncertain significance | 18 | 199291 | 199291 | Human | | name |
| 329375987 | CV2467406 | single nucleotide variant | NM_005151.4(USP14):c.835A>G (p.Ile279Val) | not specified [RCV004287024] | uncertain significance | 18 | 199275 | 199275 | Human | | name |
| 401877124 | CV2793356 | single nucleotide variant | NM_005151.4(USP14):c.736T>A (p.Phe246Ile) | not specified [RCV004362166] | uncertain significance | 18 | 198107 | 198107 | Human | | name |
| 405814652 | CV3341637 | single nucleotide variant | NM_005151.4(USP14):c.677C>G (p.Thr226Arg) | not specified [RCV004484523] | uncertain significance | 18 | 198048 | 198048 | Human | | name |
| 405814654 | CV3341638 | single nucleotide variant | NM_005151.4(USP14):c.704C>A (p.Thr235Lys) | not specified [RCV004484524] | uncertain significance | 18 | 198075 | 198075 | Human | | name |
| 407462603 | CV3487419 | single nucleotide variant | NM_005151.4(USP14):c.521T>C (p.Ile174Thr) | not specified [RCV004688017] | uncertain significance | 18 | 196694 | 196694 | Human | | name |
| 407455244 | CV3487421 | single nucleotide variant | NM_005151.4(USP14):c.791A>T (p.Glu264Val) | not specified [RCV004685433] | uncertain significance | 18 | 199231 | 199231 | Human | | name |
| 597798380 | CV3626109 | single nucleotide variant | NM_005151.4(USP14):c.464C>G (p.Ala155Gly) | not specified [RCV004879159] | uncertain significance | 18 | 196637 | 196637 | Human | | name |
| 598275134 | CV3936453 | single nucleotide variant | NM_005151.4(USP14):c.902A>T (p.Gln301Leu) | not specified [RCV005304276] | uncertain significance | 18 | 202905 | 202905 | Human | | name |
| 598275140 | CV3936456 | single nucleotide variant | NM_005151.4(USP14):c.452A>G (p.Tyr151Cys) | not specified [RCV005304279] | uncertain significance | 18 | 192889 | 192889 | Human | | name |
| 598203538 | CV3936457 | single nucleotide variant | NM_005151.4(USP14):c.989G>A (p.Arg330Gln) | not specified [RCV005290550] | uncertain significance | 18 | 203144 | 203144 | Human | | name |
| 401753736 | CV2722569 | single nucleotide variant | NM_005151.4(USP14):c.1447C>T (p.Arg483Cys) | not specified [RCV004322943] | uncertain significance | 18 | 211246 | 211246 | Human | | name |
| 401758116 | CV2731696 | single nucleotide variant | NM_005151.4(USP14):c.1463T>A (p.Met488Lys) | not specified [RCV004331799] | uncertain significance | 18 | 211262 | 211262 | Human | | name |
| 405814649 | CV3341635 | single nucleotide variant | NM_005151.4(USP14):c.1055T>C (p.Met352Thr) | not specified [RCV004484521] | uncertain significance | 18 | 204583 | 204583 | Human | | name |
| 405814650 | CV3341636 | single nucleotide variant | NM_005151.4(USP14):c.1195G>A (p.Val399Ile) | not specified [RCV004484522] | uncertain significance | 18 | 210001 | 210001 | Human | | name |
| 407455248 | CV3487418 | single nucleotide variant | NM_005151.4(USP14):c.1229T>C (p.Ile410Thr) | not specified [RCV004685431] | uncertain significance | 18 | 210389 | 210389 | Human | | name |
| 407455246 | CV3487420 | single nucleotide variant | NM_005151.4(USP14):c.1084G>C (p.Glu362Gln) | not specified [RCV004685432] | uncertain significance | 18 | 204612 | 204612 | Human | | name |
| 598275138 | CV3936455 | single nucleotide variant | NM_005151.4(USP14):c.1253A>G (p.Tyr418Cys) | not specified [RCV005304278] | uncertain significance | 18 | 210413 | 210413 | Human | | name |
| 126909828 | CV1052983 | deletion | NM_005151.4(USP14):c.233_236del (p.Leu78fs) | Distal arthrogryposis and CNS involvement [RCV001823201]|See cases [RCV002287499]|not provided [RCV003152626] | pathogenic|uncertain significance | 18 | 178969 | 178972 | Human | 1 | name |