| 13213603 | CV428814 | single nucleotide variant | NM_006765.4(TUSC3):c.-4C>T | not specified [RCV000500218] | uncertain significance | 8 | 15540427 | 15540427 | Human | | name |
| 11612070 | CV304655 | single nucleotide variant | NM_006765.4(TUSC3):c.-48C>T | Congenital disorder of glycosylation [RCV000403604] | uncertain significance | 8 | 15540383 | 15540383 | Human | 1 | name |
| 11606340 | CV308398 | single nucleotide variant | NM_006765.4(TUSC3):c.*83A>C | Congenital disorder of glycosylation [RCV000330470]|not provided [RCV004707194] | likely benign|uncertain significance | 8 | 15764239 | 15764239 | Human | 1 | name |
| 11607045 | CV313473 | single nucleotide variant | NM_006765.4(TUSC3):c.-87C>T | Congenital disorder of glycosylation [RCV000338749]|not provided [RCV001564737] | likely benign|uncertain significance | 8 | 15540344 | 15540344 | Human | 1 | name |
| 11601728 | CV313477 | single nucleotide variant | NM_006765.4(TUSC3):c.-46G>C | Congenital disorder of glycosylation [RCV000284962] | uncertain significance | 8 | 15540385 | 15540385 | Human | 1 | name |
| 28869726 | CV899146 | single nucleotide variant | NM_006765.4(TUSC3):c.-91G>A | Congenital disorder of glycosylation [RCV001163214] | likely benign | 8 | 15540340 | 15540340 | Human | 1 | name |
| 28869729 | CV899147 | single nucleotide variant | NM_006765.4(TUSC3):c.-88T>G | Congenital disorder of glycosylation [RCV001163215]|not provided [RCV004707569] | likely benign | 8 | 15540343 | 15540343 | Human | 1 | name |
| 28869733 | CV899148 | single nucleotide variant | NM_006765.4(TUSC3):c.-82A>G | Congenital disorder of glycosylation [RCV001163216] | uncertain significance | 8 | 15540349 | 15540349 | Human | 1 | name |
| 28869735 | CV899149 | single nucleotide variant | NM_006765.4(TUSC3):c.-51G>A | Congenital disorder of glycosylation [RCV001163217] | uncertain significance | 8 | 15540380 | 15540380 | Human | 1 | name |
| 28869947 | CV899161 | single nucleotide variant | NM_006765.4(TUSC3):c.*36T>G | Congenital disorder of glycosylation [RCV001163323] | uncertain significance | 8 | 15757845 | 15757845 | Human | 1 | name |
| 28869950 | CV899162 | single nucleotide variant | NM_006765.4(TUSC3):c.*98A>G | Congenital disorder of glycosylation [RCV001163324] | uncertain significance | 8 | 15764254 | 15764254 | Human | 1 | name |
| 11662239 | CV304644 | single nucleotide variant | NM_006765.3(TUSC3):c.-191C>T | Congenital disorder of glycosylation [RCV000384365] | uncertain significance | 8 | 15540240 | 15540240 | Human | 1 | name |
| 11656101 | CV304647 | single nucleotide variant | NM_006765.4(TUSC3):c.-167G>A | Congenital disorder of glycosylation [RCV000331032] | uncertain significance | 8 | 15540264 | 15540264 | Human | 1 | name |
| 11650889 | CV304649 | single nucleotide variant | NM_006765.4(TUSC3):c.-150C>T | Congenital disorder of glycosylation [RCV000295787] | uncertain significance | 8 | 15540281 | 15540281 | Human | 1 | name |
| 11658638 | CV304653 | single nucleotide variant | NM_006765.4(TUSC3):c.-130C>G | Congenital disorder of glycosylation [RCV000350751] | uncertain significance | 8 | 15540301 | 15540301 | Human | 1 | name |
| 11609646 | CV304671 | single nucleotide variant | NM_006765.4(TUSC3):c.*589G>A | Congenital disorder of glycosylation [RCV000371219] | uncertain significance | 8 | 15764745 | 15764745 | Human | 1 | name |
| 11605069 | CV304672 | single nucleotide variant | NM_006765.4(TUSC3):c.*732G>A | Congenital disorder of glycosylation [RCV000315747] | uncertain significance | 8 | 15764888 | 15764888 | Human | 1 | name |
| 11645186 | CV308392 | single nucleotide variant | NM_006765.3(TUSC3):c.-303C>G | Congenital disorder of glycosylation [RCV000264220] | uncertain significance | 8 | 15540128 | 15540128 | Human | 1 | name |
| 11608821 | CV308394 | single nucleotide variant | NM_006765.3(TUSC3):c.-273G>A | Congenital disorder of glycosylation [RCV000360183] | likely benign|uncertain significance | 8 | 15540158 | 15540158 | Human | 1 | name |
| 11646259 | CV308395 | single nucleotide variant | NM_006765.3(TUSC3):c.-206C>T | Congenital disorder of glycosylation [RCV000269983] | uncertain significance | 8 | 15540225 | 15540225 | Human | 1 | name |
| 11610044 | CV308404 | single nucleotide variant | NM_006765.4(TUSC3):c.*879A>T | Congenital disorder of glycosylation [RCV000376319] | benign|likely benign | 8 | 15765035 | 15765035 | Human | 1 | name |
| 11659562 | CV313459 | single nucleotide variant | NM_006765.3(TUSC3):c.-304G>T | Congenital disorder of glycosylation [RCV000359056] | uncertain significance | 8 | 15540127 | 15540127 | Human | 1 | name |
| 11662364 | CV313460 | single nucleotide variant | NM_006765.4(TUSC3):c.-159C>T | Congenital disorder of glycosylation [RCV000385504] | uncertain significance | 8 | 15540272 | 15540272 | Human | 1 | name |
| 11601009 | CV313461 | single nucleotide variant | NM_006765.4(TUSC3):c.-108G>A | Congenital disorder of glycosylation [RCV000278912]|not provided [RCV004707193] | likely benign|uncertain significance | 8 | 15540323 | 15540323 | Human | 1 | name |
| 11609981 | CV313481 | single nucleotide variant | NM_006765.4(TUSC3):c.*789C>T | Congenital disorder of glycosylation [RCV000375052]|not provided [RCV004712535] | benign | 8 | 15764945 | 15764945 | Human | 1 | name |
| 11652499 | CV313564 | single nucleotide variant | NM_006765.3(TUSC3):c.-289A>G | Congenital disorder of glycosylation [RCV000305507] | uncertain significance | 8 | 15540142 | 15540142 | Human | 1 | name |
| 11609835 | CV313567 | single nucleotide variant | NM_006765.4(TUSC3):c.-120C>T | Congenital disorder of glycosylation [RCV000373526]|not provided [RCV001675878] | benign|likely benign | 8 | 15540311 | 15540311 | Human | 1 | name |
| 11600807 | CV313570 | single nucleotide variant | NM_006765.4(TUSC3):c.*605C>G | Congenital disorder of glycosylation [RCV000276684] | uncertain significance | 8 | 15764761 | 15764761 | Human | 1 | name |
| 11601198 | CV313572 | single nucleotide variant | NM_006765.4(TUSC3):c.*854T>C | Congenital disorder of glycosylation [RCV000280435]|not provided [RCV004712536] | benign | 8 | 15765010 | 15765010 | Human | 1 | name |
| 11654873 | CV313585 | single nucleotide variant | NM_006765.4(TUSC3):c.*869A>C | Congenital disorder of glycosylation [RCV000321427] | uncertain significance | 8 | 15765025 | 15765025 | Human | 1 | name |
| 11601945 | CV313587 | single nucleotide variant | NM_006765.4(TUSC3):c.*993T>C | Congenital disorder of glycosylation [RCV000286516]|not provided [RCV004712537] | benign|likely benign | 8 | 15765149 | 15765149 | Human | 1 | name |
| 28910785 | CV899143 | single nucleotide variant | NM_006765.3(TUSC3):c.-254C>A | Congenital disorder of glycosylation [RCV001161697] | uncertain significance | 8 | 15540177 | 15540177 | Human | 1 | name |
| 28910786 | CV899144 | single nucleotide variant | NM_006765.3(TUSC3):c.-190C>T | Congenital disorder of glycosylation [RCV001161698] | uncertain significance | 8 | 15540241 | 15540241 | Human | 1 | name |
| 28869724 | CV899145 | single nucleotide variant | NM_006765.4(TUSC3):c.-111C>A | Congenital disorder of glycosylation [RCV001163213] | uncertain significance | 8 | 15540320 | 15540320 | Human | 1 | name |
| 28869953 | CV899163 | single nucleotide variant | NM_006765.4(TUSC3):c.*111G>A | Congenital disorder of glycosylation [RCV001163325] | uncertain significance | 8 | 15764267 | 15764267 | Human | 1 | name |
| 28869954 | CV899164 | single nucleotide variant | NM_006765.4(TUSC3):c.*128A>G | Congenital disorder of glycosylation [RCV001163326] | uncertain significance | 8 | 15764284 | 15764284 | Human | 1 | name |
| 28869956 | CV899165 | single nucleotide variant | NM_006765.4(TUSC3):c.*188C>T | Congenital disorder of glycosylation [RCV001163327] | uncertain significance | 8 | 15764344 | 15764344 | Human | 1 | name |
| 28869959 | CV899166 | single nucleotide variant | NM_006765.4(TUSC3):c.*217C>T | Congenital disorder of glycosylation [RCV001163328] | uncertain significance | 8 | 15764373 | 15764373 | Human | 1 | name |
| 28869962 | CV899167 | single nucleotide variant | NM_006765.4(TUSC3):c.*222A>G | Congenital disorder of glycosylation [RCV001163329] | uncertain significance | 8 | 15764378 | 15764378 | Human | 1 | name |
| 28874594 | CV899168 | single nucleotide variant | NM_006765.4(TUSC3):c.*286C>G | Congenital disorder of glycosylation [RCV001165428] | uncertain significance | 8 | 15764442 | 15764442 | Human | 1 | name |
| 28874595 | CV899169 | single nucleotide variant | NM_006765.4(TUSC3):c.*288G>A | Congenital disorder of glycosylation [RCV001165429] | uncertain significance | 8 | 15764444 | 15764444 | Human | 1 | name |
| 28874597 | CV899170 | single nucleotide variant | NM_006765.4(TUSC3):c.*341A>G | Congenital disorder of glycosylation [RCV001165430] | uncertain significance | 8 | 15764497 | 15764497 | Human | 1 | name |
| 28874600 | CV899171 | single nucleotide variant | NM_006765.4(TUSC3):c.*364G>C | Congenital disorder of glycosylation [RCV001165431] | uncertain significance | 8 | 15764520 | 15764520 | Human | 1 | name |
| 28874604 | CV899172 | single nucleotide variant | NM_006765.4(TUSC3):c.*499G>A | Congenital disorder of glycosylation [RCV001165432] | uncertain significance | 8 | 15764655 | 15764655 | Human | 1 | name |
| 28874606 | CV899173 | single nucleotide variant | NM_006765.4(TUSC3):c.*510C>A | Congenital disorder of glycosylation [RCV001165433] | uncertain significance | 8 | 15764666 | 15764666 | Human | 1 | name |
| 28874609 | CV899174 | single nucleotide variant | NM_006765.4(TUSC3):c.*566G>A | Congenital disorder of glycosylation [RCV001165434] | uncertain significance | 8 | 15764722 | 15764722 | Human | 1 | name |
| 28905951 | CV899175 | single nucleotide variant | NM_006765.4(TUSC3):c.*686A>C | Congenital disorder of glycosylation [RCV001158705] | uncertain significance | 8 | 15764842 | 15764842 | Human | 1 | name |
| 28905952 | CV899176 | single nucleotide variant | NM_006765.4(TUSC3):c.*763A>C | Congenital disorder of glycosylation [RCV001158706] | uncertain significance | 8 | 15764919 | 15764919 | Human | 1 | name |
| 28867504 | CV899177 | single nucleotide variant | NM_006765.4(TUSC3):c.*947A>G | Congenital disorder of glycosylation [RCV001161921] | uncertain significance | 8 | 15765103 | 15765103 | Human | 1 | name |
| 28905527 | CV900459 | single nucleotide variant | NM_006765.3(TUSC3):c.-358A>G | Congenital disorder of glycosylation [RCV001158483] | uncertain significance | 8 | 15540073 | 15540073 | Human | 1 | name |
| 8642345 | CV101329 | single nucleotide variant | NM_006765.4(TUSC3):c.309-6T>C | Congenital disorder of glycosylation [RCV000304490]|Intellectual disability, autosomal recessive 7 [RCV001518416]|not provided [RCV001636647]|not specified [RCV000081454] | benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters | 8 | 15650691 | 15650691 | Human | 2 | name |
| 126744317 | CV1020467 | single nucleotide variant | NM_006765.4(TUSC3):c.308+3A>G | Intellectual disability, autosomal recessive 7 [RCV001337001] | uncertain significance | 8 | 15623252 | 15623252 | Human | 1 | name |
| 151349191 | CV1324375 | single nucleotide variant | NM_006765.4(TUSC3):c.568-2A>G | Intellectual disability, autosomal recessive 7 [RCV001808292] | likely pathogenic | 8 | 15662154 | 15662154 | Human | 1 | name |
| 151789329 | CV1378772 | single nucleotide variant | NM_006765.4(TUSC3):c.309-8C>G | Intellectual disability, autosomal recessive 7 [RCV001900415] | likely benign|uncertain significance | 8 | 15650689 | 15650689 | Human | 1 | name |
| 152074698 | CV1647575 | single nucleotide variant | NM_006765.4(TUSC3):c.139-6T>C | Intellectual disability, autosomal recessive 7 [RCV002210439] | likely benign | 8 | 15623074 | 15623074 | Human | 1 | name |
| 155265580 | CV1695725 | single nucleotide variant | NM_006765.4(TUSC3):c.*46+1G>A | not provided [RCV002280456] | likely pathogenic | 8 | 15757856 | 15757856 | Human | | name |
| 11639405 | CV270102 | single nucleotide variant | NM_006765.4(TUSC3):c.863-2A>G | not provided [RCV000319066] | uncertain significance | 8 | 15743536 | 15743536 | Human | | name |
| 11612357 | CV304683 | single nucleotide variant | NM_006765.4(TUSC3):c.*1024T>C | Congenital disorder of glycosylation [RCV000407919] | uncertain significance | 8 | 15765180 | 15765180 | Human | 1 | name |
| 11607775 | CV304689 | single nucleotide variant | NM_006765.4(TUSC3):c.*1191C>T | Congenital disorder of glycosylation [RCV000347357] | uncertain significance | 8 | 15765347 | 15765347 | Human | 1 | name |
| 11612092 | CV304690 | single nucleotide variant | NM_006765.4(TUSC3):c.*1193A>G | Congenital disorder of glycosylation [RCV000403441]|not provided [RCV004712538] | benign|likely benign | 8 | 15765349 | 15765349 | Human | 1 | name |
| 11598853 | CV304696 | single nucleotide variant | NM_006765.4(TUSC3):c.*1665T>C | Congenital disorder of glycosylation [RCV000260887]|not provided [RCV003437136] | benign|uncertain significance | 8 | 15765821 | 15765821 | Human | 1 | name |
| 11601959 | CV304697 | single nucleotide variant | NM_006765.4(TUSC3):c.*2052A>C | Congenital disorder of glycosylation [RCV000286646] | benign|likely benign | 8 | 15766208 | 15766208 | Human | 1 | name |
| 11649851 | CV304698 | single nucleotide variant | NM_006765.4(TUSC3):c.*2146A>T | Congenital disorder of glycosylation [RCV000289852] | uncertain significance | 8 | 15766302 | 15766302 | Human | 1 | name |
| 11608072 | CV304705 | single nucleotide variant | NM_006765.4(TUSC3):c.*2363G>T | Congenital disorder of glycosylation [RCV000350849] | uncertain significance | 8 | 15766519 | 15766519 | Human | 1 | name |
| 11602770 | CV304714 | duplication | NM_006765.4(TUSC3):c.*2368dup | Congenital disorder of glycosylation [RCV000293536] | likely benign | 8 | 15766519 | 15766520 | Human | 1 | name |
| 11612283 | CV304716 | single nucleotide variant | NM_006765.4(TUSC3):c.*2456C>A | Congenital disorder of glycosylation [RCV000406451]|not provided [RCV004712541] | benign|likely benign | 8 | 15766612 | 15766612 | Human | 1 | name |
| 11604766 | CV308406 | single nucleotide variant | NM_006765.4(TUSC3):c.*1197G>A | Congenital disorder of glycosylation [RCV000312492]|not provided [RCV004696059] | uncertain significance | 8 | 15765353 | 15765353 | Human | 1 | name |
| 11611424 | CV308412 | single nucleotide variant | NM_006765.4(TUSC3):c.*1313G>A | Congenital disorder of glycosylation [RCV000394941] | uncertain significance | 8 | 15765469 | 15765469 | Human | 1 | name |
| 11604998 | CV308413 | single nucleotide variant | NM_006765.4(TUSC3):c.*1371T>G | Congenital disorder of glycosylation [RCV000315069] | uncertain significance | 8 | 15765527 | 15765527 | Human | 1 | name |
| 11599272 | CV308415 | single nucleotide variant | NM_006765.4(TUSC3):c.*1944C>T | Congenital disorder of glycosylation [RCV000264450]|not provided [RCV004712540] | benign|likely benign | 8 | 15766100 | 15766100 | Human | 1 | name |
| 11605900 | CV308417 | single nucleotide variant | NM_006765.4(TUSC3):c.*2100C>A | Congenital disorder of glycosylation [RCV000325297] | likely benign|uncertain significance | 8 | 15766256 | 15766256 | Human | 1 | name |
| 11607731 | CV308418 | single nucleotide variant | NM_006765.4(TUSC3):c.*2183G>A | Congenital disorder of glycosylation [RCV000347108] | uncertain significance | 8 | 15766339 | 15766339 | Human | 1 | name |
| 11607253 | CV313486 | single nucleotide variant | NM_006765.4(TUSC3):c.*1009C>A | Congenital disorder of glycosylation [RCV000341393] | uncertain significance | 8 | 15765165 | 15765165 | Human | 1 | name |
| 11602094 | CV313487 | single nucleotide variant | NM_006765.4(TUSC3):c.*1078C>G | Congenital disorder of glycosylation [RCV000287767] | uncertain significance | 8 | 15765234 | 15765234 | Human | 1 | name |
| 11608302 | CV313500 | single nucleotide variant | NM_006765.4(TUSC3):c.*1531A>G | Congenital disorder of glycosylation [RCV000353501]|not provided [RCV002275016] | benign|likely benign|uncertain significance | 8 | 15765687 | 15765687 | Human | 1 | name |
| 11654531 | CV313502 | single nucleotide variant | NM_006765.4(TUSC3):c.*1737C>T | Congenital disorder of glycosylation [RCV000318482] | uncertain significance | 8 | 15765893 | 15765893 | Human | 1 | name |
| 11635673 | CV313505 | single nucleotide variant | NM_006765.4(TUSC3):c.*2138T>C | Congenital disorder of glycosylation [RCV000381994]|not provided [RCV004705456] | likely benign|uncertain significance | 8 | 15766294 | 15766294 | Human | 1 | name |
| 11609344 | CV313592 | single nucleotide variant | NM_006765.4(TUSC3):c.*1288G>A | Congenital disorder of glycosylation [RCV000367189]|not provided [RCV004712539] | benign|likely benign | 8 | 15765444 | 15765444 | Human | 1 | name |
| 11605584 | CV313594 | single nucleotide variant | NM_006765.4(TUSC3):c.*1957A>G | Congenital disorder of glycosylation [RCV000321718]|not provided [RCV004696060] | uncertain significance | 8 | 15766113 | 15766113 | Human | 1 | name |
| 11661646 | CV313611 | duplication | NM_006765.4(TUSC3):c.*2010dup | Congenital disorder of glycosylation [RCV000378654] | uncertain significance | 8 | 15766157 | 15766158 | Human | 1 | name |
| 11610719 | CV313613 | single nucleotide variant | NM_006765.4(TUSC3):c.*2241T>C | Congenital disorder of glycosylation [RCV000385296] | uncertain significance | 8 | 15766397 | 15766397 | Human | 1 | name |
| 598228817 | CV3894772 | single nucleotide variant | NM_006765.4(TUSC3):c.567+1G>C | Intellectual disability, autosomal recessive 7 [RCV005257978] | pathogenic | 8 | 15659648 | 15659648 | Human | 1 | name |
| 15120219 | CV759643 | single nucleotide variant | NM_006765.4(TUSC3):c.309-4T>C | not provided [RCV000918284] | likely benign | 8 | 15650693 | 15650693 | Human | | name |
| 26884500 | CV851193 | single nucleotide variant | NM_006765.4(TUSC3):c.309-3C>G | Intellectual disability, autosomal recessive 7 [RCV001064906] | uncertain significance | 8 | 15650694 | 15650694 | Human | 1 | name |
| 28870221 | CV899178 | single nucleotide variant | NM_006765.4(TUSC3):c.*1391T>C | Congenital disorder of glycosylation [RCV001163439] | uncertain significance | 8 | 15765547 | 15765547 | Human | 1 | name |
| 28870223 | CV899179 | single nucleotide variant | NM_006765.4(TUSC3):c.*1581C>T | Congenital disorder of glycosylation [RCV001163440] | uncertain significance | 8 | 15765737 | 15765737 | Human | 1 | name |
| 28870225 | CV899180 | single nucleotide variant | NM_006765.4(TUSC3):c.*1607T>C | Congenital disorder of glycosylation [RCV001163441] | uncertain significance | 8 | 15765763 | 15765763 | Human | 1 | name |
| 28870938 | CV899181 | single nucleotide variant | NM_006765.4(TUSC3):c.*1723T>G | Congenital disorder of glycosylation [RCV001163732] | uncertain significance | 8 | 15765879 | 15765879 | Human | 1 | name |
| 28870941 | CV899182 | single nucleotide variant | NM_006765.4(TUSC3):c.*1861A>G | Congenital disorder of glycosylation [RCV001163733] | uncertain significance | 8 | 15766017 | 15766017 | Human | 1 | name |
| 28870943 | CV899183 | single nucleotide variant | NM_006765.4(TUSC3):c.*1973T>A | Congenital disorder of glycosylation [RCV001163734] | uncertain significance | 8 | 15766129 | 15766129 | Human | 1 | name |
| 28870947 | CV899184 | single nucleotide variant | NM_006765.4(TUSC3):c.*2037G>C | Congenital disorder of glycosylation [RCV001163735] | uncertain significance | 8 | 15766193 | 15766193 | Human | 1 | name |
| 28906151 | CV899185 | single nucleotide variant | NM_006765.4(TUSC3):c.*2057T>C | Congenital disorder of glycosylation [RCV001158815] | uncertain significance | 8 | 15766213 | 15766213 | Human | 1 | name |
| 28906153 | CV899186 | single nucleotide variant | NM_006765.4(TUSC3):c.*2101A>G | Congenital disorder of glycosylation [RCV001158816] | uncertain significance | 8 | 15766257 | 15766257 | Human | 1 | name |
| 28906157 | CV899187 | single nucleotide variant | NM_006765.4(TUSC3):c.*2131G>T | Congenital disorder of glycosylation [RCV001158817] | uncertain significance | 8 | 15766287 | 15766287 | Human | 1 | name |
| 28908546 | CV899188 | single nucleotide variant | NM_006765.4(TUSC3):c.*2277A>G | Congenital disorder of glycosylation [RCV001160156] | uncertain significance | 8 | 15766433 | 15766433 | Human | 1 | name |
| 28908548 | CV899189 | single nucleotide variant | NM_006765.4(TUSC3):c.*2283T>C | Congenital disorder of glycosylation [RCV001160157] | uncertain significance | 8 | 15766439 | 15766439 | Human | 1 | name |
| 28908551 | CV899190 | single nucleotide variant | NM_006765.4(TUSC3):c.*2304C>G | Congenital disorder of glycosylation [RCV001160158] | likely benign | 8 | 15766460 | 15766460 | Human | 1 | name |
| 28908554 | CV899191 | single nucleotide variant | NM_006765.4(TUSC3):c.*2316A>G | Congenital disorder of glycosylation [RCV001160159] | uncertain significance | 8 | 15766472 | 15766472 | Human | 1 | name |
| 28908557 | CV899192 | single nucleotide variant | NM_006765.4(TUSC3):c.*2371C>T | Congenital disorder of glycosylation [RCV001160160] | uncertain significance | 8 | 15766527 | 15766527 | Human | 1 | name |
| 28908558 | CV899193 | single nucleotide variant | NM_006765.4(TUSC3):c.*2393A>G | Congenital disorder of glycosylation [RCV001160161] | uncertain significance | 8 | 15766549 | 15766549 | Human | 1 | name |
| 28870468 | CV899194 | single nucleotide variant | NM_006765.4(TUSC3):c.*2397G>A | Congenital disorder of glycosylation [RCV001163540]|not provided [RCV003222239] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 15766553 | 15766553 | Human | 1 | name |
| 28870472 | CV899195 | single nucleotide variant | NM_006765.4(TUSC3):c.*2407G>A | Congenital disorder of glycosylation [RCV001163541] | uncertain significance | 8 | 15766563 | 15766563 | Human | 1 | name |
| 28870473 | CV899196 | single nucleotide variant | NM_006765.4(TUSC3):c.*2450A>G | Congenital disorder of glycosylation [RCV001163542] | likely benign | 8 | 15766606 | 15766606 | Human | 1 | name |
| 8642344 | CV101328 | deletion | NM_006765.4(TUSC3):c.139-17del | not provided [RCV000081453] | uncertain significance | 8 | 15623061 | 15623061 | Human | | name |
| 150411713 | CV1177008 | single nucleotide variant | NM_006765.4(TUSC3):c.937+41C>G | not provided [RCV001547270] | likely benign | 8 | 15743653 | 15743653 | Human | | name |
| 150425861 | CV1184085 | single nucleotide variant | NM_006765.4(TUSC3):c.798+55G>A | not provided [RCV001558570] | likely benign | 8 | 15673891 | 15673891 | Human | | name |
| 150485966 | CV1280881 | single nucleotide variant | NM_006765.4(TUSC3):c.568-84T>G | not provided [RCV001715704] | benign | 8 | 15662072 | 15662072 | Human | | name |
| 150493635 | CV1282106 | single nucleotide variant | NM_006765.4(TUSC3):c.138+74G>A | not provided [RCV001717048] | benign | 8 | 15540642 | 15540642 | Human | | name |
| 8657716 | CV136137 | single nucleotide variant | NM_006765.4(TUSC3):c.1028+8C>G | TUSC3-related disorder [RCV003945061]|not specified [RCV000118805] | likely benign | 8 | 15748473 | 15748473 | Human | 1 | name , trait , alternate_id |
| 152122588 | CV1521640 | single nucleotide variant | NM_006765.4(TUSC3):c.938-12G>C | Intellectual disability, autosomal recessive 7 [RCV002135899] | likely benign | 8 | 15748363 | 15748363 | Human | 1 | name |
| 152105090 | CV1609437 | single nucleotide variant | NM_006765.4(TUSC3):c.862+19G>A | Intellectual disability, autosomal recessive 7 [RCV002115836]|not provided [RCV004711822] | benign | 8 | 15730748 | 15730748 | Human | 1 | name |
| 155676731 | CV1829404 | single nucleotide variant | NM_006765.4(TUSC3):c.1029-5G>C | Inborn genetic diseases [RCV002387647] | uncertain significance | 8 | 15757786 | 15757786 | Human | 1 | name |
| 155961308 | CV1884823 | single nucleotide variant | NM_006765.4(TUSC3):c.938-10C>G | Intellectual disability, autosomal recessive 7 [RCV003074698] | likely benign | 8 | 15748365 | 15748365 | Human | 1 | name |
| 402506613 | CV2897434 | single nucleotide variant | NM_006765.4(TUSC3):c.309-15C>G | Intellectual disability, autosomal recessive 7 [RCV003509342] | benign | 8 | 15650682 | 15650682 | Human | 1 | name |
| 402504232 | CV2899127 | single nucleotide variant | NM_006765.4(TUSC3):c.426+16G>A | Intellectual disability, autosomal recessive 7 [RCV003509094] | likely benign | 8 | 15650830 | 15650830 | Human | 1 | name |
| 11609150 | CV304656 | single nucleotide variant | NM_006765.4(TUSC3):c.426+15C>T | Congenital disorder of glycosylation [RCV000364414] | uncertain significance | 8 | 15650829 | 15650829 | Human | 1 | name |
| 405142695 | CV3050378 | single nucleotide variant | NM_006765.4(TUSC3):c.309-16C>T | Intellectual disability, autosomal recessive 7 [RCV003619477] | likely benign | 8 | 15650681 | 15650681 | Human | 1 | name |
| 11600618 | CV313478 | single nucleotide variant | NM_006765.4(TUSC3):c.937+11G>C | Congenital disorder of glycosylation [RCV000275409]|Intellectual disability, autosomal recessive 7 [RCV005090595] | benign|uncertain significance | 8 | 15743623 | 15743623 | Human | 2 | name |
| 405078196 | CV3156321 | single nucleotide variant | NM_006765.4(TUSC3):c.708+16G>T | Intellectual disability, autosomal recessive 7 [RCV003851379] | likely benign | 8 | 15662312 | 15662312 | Human | 1 | name |
| 597852215 | CV3747071 | single nucleotide variant | NM_006765.4(TUSC3):c.1029-5G>A | Intellectual disability, autosomal recessive 7 [RCV005060700] | likely benign | 8 | 15757786 | 15757786 | Human | 1 | name |
| 597971980 | CV3798962 | single nucleotide variant | NM_006765.4(TUSC3):c.862+18C>T | Intellectual disability, autosomal recessive 7 [RCV005142374] | likely benign | 8 | 15730747 | 15730747 | Human | 1 | name |
| 597976089 | CV3829090 | single nucleotide variant | NM_006765.4(TUSC3):c.138+15C>T | Intellectual disability, autosomal recessive 7 [RCV005169539] | likely benign | 8 | 15540583 | 15540583 | Human | 1 | name |
| 13216426 | CV428816 | single nucleotide variant | NM_006765.4(TUSC3):c.1029-8T>C | Intellectual disability, autosomal recessive 7 [RCV003509555]|not specified [RCV000503746] | likely benign|uncertain significance | 8 | 15757783 | 15757783 | Human | 1 | name |
| 13518792 | CV488307 | single nucleotide variant | NM_006765.4(TUSC3):c.798+36T>G | not provided [RCV001637097]|not specified [RCV000597623] | benign | 8 | 15673872 | 15673872 | Human | | name |
| 15200395 | CV730553 | single nucleotide variant | NM_006765.4(TUSC3):c.863-10A>C | not provided [RCV000890900] | likely benign | 8 | 15743528 | 15743528 | Human | | name |
| 15190782 | CV744402 | single nucleotide variant | NM_006765.4(TUSC3):c.1029-4A>G | not provided [RCV000910052] | likely benign | 8 | 15757787 | 15757787 | Human | | name |
| 28905738 | CV900460 | single nucleotide variant | NM_006765.4(TUSC3):c.426+13A>T | Congenital disorder of glycosylation [RCV001158589] | uncertain significance | 8 | 15650827 | 15650827 | Human | 1 | name |
| 28867316 | CV900461 | single nucleotide variant | NM_006765.4(TUSC3):c.568-15A>G | Congenital disorder of glycosylation [RCV001161809]|Intellectual disability, autosomal recessive 7 [RCV003619738] | benign|uncertain significance | 8 | 15662141 | 15662141 | Human | 2 | name |
| 150500738 | CV1213215 | single nucleotide variant | NM_006765.4(TUSC3):c.138+168G>A | not provided [RCV001594627] | benign | 8 | 15540736 | 15540736 | Human | | name |
| 150465665 | CV1218059 | single nucleotide variant | NM_006765.4(TUSC3):c.937+160A>T | not provided [RCV001614185] | benign | 8 | 15743772 | 15743772 | Human | | name |
| 150491044 | CV1222692 | single nucleotide variant | NM_006765.4(TUSC3):c.862+186C>T | not provided [RCV001618752] | benign | 8 | 15730915 | 15730915 | Human | | name |
| 150500560 | CV1224814 | single nucleotide variant | NM_006765.4(TUSC3):c.139-214G>C | not provided [RCV001620646] | benign | 8 | 15622866 | 15622866 | Human | | name |
| 150450795 | CV1232720 | single nucleotide variant | NM_006765.4(TUSC3):c.139-261T>A | not provided [RCV001647795] | benign | 8 | 15622819 | 15622819 | Human | | name |
| 150431194 | CV1235366 | single nucleotide variant | NM_006765.4(TUSC3):c.426+196C>G | not provided [RCV001641736] | benign | 8 | 15651010 | 15651010 | Human | | name |
| 150495199 | CV1241529 | duplication | NM_006765.4(TUSC3):c.139-261dup | not provided [RCV001655536] | benign | 8 | 15622810 | 15622811 | Human | | name |
| 150509893 | CV1248411 | single nucleotide variant | NM_006765.4(TUSC3):c.427-243C>T | not provided [RCV001659479] | benign | 8 | 15659264 | 15659264 | Human | | name |
| 150446963 | CV1250746 | single nucleotide variant | NM_006765.4(TUSC3):c.862+291G>A | not provided [RCV001667251] | benign | 8 | 15731020 | 15731020 | Human | | name |
| 150463870 | CV1252584 | single nucleotide variant | NM_006765.4(TUSC3):c.863-260G>A | not provided [RCV001669907] | benign | 8 | 15743278 | 15743278 | Human | | name |
| 150464871 | CV1252785 | single nucleotide variant | NM_006765.4(TUSC3):c.426+108G>A | not provided [RCV001670109] | benign | 8 | 15650922 | 15650922 | Human | | name |
| 150491864 | CV1267846 | single nucleotide variant | NM_006765.4(TUSC3):c.799-194G>C | not provided [RCV001687871] | benign | 8 | 15730472 | 15730472 | Human | | name |
| 150498231 | CV1271475 | single nucleotide variant | NM_006765.4(TUSC3):c.*47-294C>G | not provided [RCV001689165] | benign | 8 | 15763909 | 15763909 | Human | | name |
| 150478721 | CV1273343 | single nucleotide variant | NM_006765.4(TUSC3):c.709-226T>A | not provided [RCV001696546] | benign | 8 | 15673521 | 15673521 | Human | | name |
| 150498766 | CV1282270 | single nucleotide variant | NM_006765.4(TUSC3):c.1028+68A>G | not provided [RCV001718075] | benign | 8 | 15748533 | 15748533 | Human | | name |
| 152133660 | CV1607528 | single nucleotide variant | NM_006765.4(TUSC3):c.1028+11T>C | Intellectual disability, autosomal recessive 7 [RCV002119405] | benign|likely benign | 8 | 15748476 | 15748476 | Human | 1 | name |
| 155267819 | CV1705174 | single nucleotide variant | NM_006765.4(TUSC3):c.568-124C>T | not provided [RCV002285779] | likely benign | 8 | 15662032 | 15662032 | Human | | name |
| 150450404 | CV1254110 | single nucleotide variant | NM_006765.4(TUSC3):c.1028+208G>A | not provided [RCV001667748] | benign | 8 | 15748673 | 15748673 | Human | | name |
| 150452400 | CV1254959 | single nucleotide variant | NM_006765.4(TUSC3):c.1029-211C>T | not provided [RCV001668018] | benign | 8 | 15757580 | 15757580 | Human | | name |
| 150450222 | CV1254087 | microsatellite | NM_006765.4(TUSC3):c.798+162AC[5] | not provided [RCV001667724] | benign | 8 | 15673998 | 15674001 | Human | | name |
| 155690673 | CV1824998 | deletion | NM_006765.4(TUSC3):c.938-8_939del | Inborn genetic diseases [RCV002373856] | likely pathogenic | 8 | 15748367 | 15748376 | Human | 1 | name |
| 150475369 | CV1217938 | microsatellite | NM_006765.4(TUSC3):c.426+171AC[16] | not provided [RCV001615949] | benign | 8 | 15650985 | 15650990 | Human | | name |
| 150468328 | CV1218899 | microsatellite | NM_006765.4(TUSC3):c.426+171AC[14] | not provided [RCV001614651] | benign | 8 | 15650985 | 15650994 | Human | | name |
| 150456086 | CV1220557 | microsatellite | NM_006765.4(TUSC3):c.426+171AC[17] | not provided [RCV001612650] | benign | 8 | 15650985 | 15650988 | Human | | name |
| 150442799 | CV1232479 | microsatellite | NM_006765.4(TUSC3):c.426+171AC[15] | not provided [RCV001645447] | benign | 8 | 15650985 | 15650992 | Human | | name |
| 155266902 | CV1696408 | microsatellite | NM_006765.4(TUSC3):c.426+171AC[12] | not provided [RCV002281266] | likely benign | 8 | 15650985 | 15650998 | Human | | name |
| 11646450 | CV304646 | microsatellite | NM_006765.3(TUSC3):c.-175_-174CT[1] | Congenital disorder of glycosylation [RCV000270995] | uncertain significance | 8 | 15540256 | 15540257 | Human | | name |
| 11655317 | CV304643 | microsatellite | NM_006765.3(TUSC3):c.-197_-195TCT[1] | Congenital disorder of glycosylation [RCV000325083] | uncertain significance | 8 | 15540234 | 15540236 | Human | | name |
| 405255729 | CV3210834 | single nucleotide variant | NM_006765.4(TUSC3):c.15C>A (p.Gly5=) | TUSC3-related disorder [RCV003939341] | likely benign | 8 | 15540445 | 15540445 | Human | | name , trait , alternate_id |
| 404979899 | CV2889928 | single nucleotide variant | NM_006765.4(TUSC3):c.93G>C (p.Leu31=) | Intellectual disability, autosomal recessive 7 [RCV003511332] | likely benign | 8 | 15540523 | 15540523 | Human | 1 | name |
| 405142759 | CV3047046 | single nucleotide variant | NM_006765.4(TUSC3):c.94C>T (p.Leu32=) | Intellectual disability, autosomal recessive 7 [RCV003619484] | likely benign | 8 | 15540524 | 15540524 | Human | 1 | name |
| 11608564 | CV313503 | insertion | NM_006765.4(TUSC3):c.*1943_*1944insTT | Congenital disorder of glycosylation [RCV000356832] | likely benign | 8 | 15766099 | 15766100 | Human | 1 | name |
| 11657247 | CV313568 | single nucleotide variant | NM_006765.4(TUSC3):c.3G>A (p.Met1Ile) | Congenital disorder of glycosylation [RCV000339980] | uncertain significance | 8 | 15540433 | 15540433 | Human | 1 | name |
| 13829295 | CV579538 | single nucleotide variant | NM_006765.4(TUSC3):c.87C>T (p.Leu29=) | Inborn genetic diseases [RCV002313586]|Intellectual disability, autosomal recessive 7 [RCV000917011]|not provided [RCV004569409]|not specified [RCV001816765] | benign|likely benign | 8 | 15540517 | 15540517 | Human | 2 | name |
| 150545666 | CV1315836 | single nucleotide variant | NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser) | Intellectual disability, autosomal recessive 7 [RCV001784167] | uncertain significance | 8 | 15540449 | 15540449 | Human | 1 | name |
| 155724334 | CV1838044 | single nucleotide variant | NM_006765.4(TUSC3):c.168G>C (p.Leu56=) | Inborn genetic diseases [RCV002406148] | likely benign | 8 | 15623109 | 15623109 | Human | 1 | name |
| 155671534 | CV1848575 | single nucleotide variant | NM_006765.4(TUSC3):c.255C>G (p.Ser85=) | Inborn genetic diseases [RCV002437076]|not provided [RCV003886580] | likely benign | 8 | 15623196 | 15623196 | Human | 1 | name |
| 156264749 | CV2138888 | single nucleotide variant | NM_006765.4(TUSC3):c.255C>T (p.Ser85=) | Intellectual disability, autosomal recessive 7 [RCV002988598] | likely benign | 8 | 15623196 | 15623196 | Human | 1 | name |
| 401751173 | CV2715888 | single nucleotide variant | NM_006765.4(TUSC3):c.26G>T (p.Arg9Leu) | Inborn genetic diseases [RCV003295422] | uncertain significance | 8 | 15540456 | 15540456 | Human | 1 | name |
| 402524722 | CV2885107 | single nucleotide variant | NM_006765.4(TUSC3):c.159A>C (p.Val53=) | Intellectual disability, autosomal recessive 7 [RCV003511124] | likely benign | 8 | 15623100 | 15623100 | Human | 1 | name |
| 597952308 | CV3815749 | single nucleotide variant | NM_006765.4(TUSC3):c.246A>C (p.Arg82=) | Intellectual disability, autosomal recessive 7 [RCV005161502] | likely benign | 8 | 15623187 | 15623187 | Human | 1 | name |
| 15200588 | CV751044 | single nucleotide variant | NM_006765.4(TUSC3):c.105C>T (p.Cys35=) | not provided [RCV000912888] | likely benign | 8 | 15540535 | 15540535 | Human | | name |
| 28874340 | CV899150 | single nucleotide variant | NM_006765.4(TUSC3):c.17C>T (p.Ala6Val) | Congenital disorder of glycosylation [RCV001165313] | uncertain significance | 8 | 15540447 | 15540447 | Human | 1 | name |
| 28874342 | CV899151 | single nucleotide variant | NM_006765.4(TUSC3):c.23C>T (p.Ser8Leu) | Congenital disorder of glycosylation [RCV001165314]|not specified [RCV001819866] | uncertain significance | 8 | 15540453 | 15540453 | Human | 1 | name |
| 28874345 | CV899152 | single nucleotide variant | NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly) | Congenital disorder of glycosylation [RCV001165315]|Inborn genetic diseases [RCV002429785]|Intellectual disability, autosomal recessive 7 [RCV001882528] | uncertain significance | 8 | 15540455 | 15540455 | Human | 3 | name |
| 28905731 | CV899154 | single nucleotide variant | NM_006765.4(TUSC3):c.189C>G (p.Arg63=) | Congenital disorder of glycosylation [RCV001158586] | uncertain significance | 8 | 15623130 | 15623130 | Human | 1 | name |
| 8642346 | CV101330 | single nucleotide variant | NM_006765.4(TUSC3):c.912G>A (p.Ser304=) | Congenital disorder of glycosylation [RCV000365457]|Inborn genetic diseases [RCV002311641]|Intellectual disability, autosomal recessive 7 [RCV001082048]|TUSC3-related disorder [RCV003925068]|not provided [RCV000836234]|not specified [RCV000081455] | benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters | 8 | 15743587 | 15743587 | Human | 3 | name , trait , alternate_id |
| 126910084 | CV1045430 | single nucleotide variant | NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln) | Intellectual disability, autosomal recessive 7 [RCV001368764] | uncertain significance | 8 | 15540483 | 15540483 | Human | 1 | name |
| 9831797 | CV166959 | deletion | NM_006765.3(TUSC3):c.-2796_138+12173del | Normal pregnancy [RCV000161525] | not provided | 8 | 15537635 | 15552741 | Human | | name |
| 155717385 | CV1792253 | single nucleotide variant | NM_006765.4(TUSC3):c.330A>G (p.Gln110=) | Inborn genetic diseases [RCV002326277] | likely benign | 8 | 15650718 | 15650718 | Human | 1 | name |
| 155688212 | CV1803811 | single nucleotide variant | NM_006765.4(TUSC3):c.594C>T (p.Tyr198=) | Inborn genetic diseases [RCV002355965] | likely benign | 8 | 15662182 | 15662182 | Human | 1 | name |
| 155743314 | CV1806728 | single nucleotide variant | NM_006765.4(TUSC3):c.558G>A (p.Thr186=) | Inborn genetic diseases [RCV002344809] | likely benign | 8 | 15659638 | 15659638 | Human | 1 | name |
| 155729510 | CV1808408 | single nucleotide variant | NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln) | Inborn genetic diseases [RCV002328682]|Intellectual disability, autosomal recessive 7 [RCV003147763] | uncertain significance | 8 | 15540474 | 15540474 | Human | 2 | name |
| 155742437 | CV1813807 | single nucleotide variant | NM_006765.4(TUSC3):c.798G>A (p.Val266=) | Inborn genetic diseases [RCV002412400] | uncertain significance | 8 | 15673836 | 15673836 | Human | 1 | name |
| 156005331 | CV1873772 | single nucleotide variant | NM_006765.4(TUSC3):c.609T>G (p.Ala203=) | Intellectual disability, autosomal recessive 7 [RCV003076792] | likely benign | 8 | 15662197 | 15662197 | Human | 1 | name |
| 156003040 | CV2045685 | single nucleotide variant | NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe) | Intellectual disability, autosomal recessive 7 [RCV002756300] | uncertain significance | 8 | 15540515 | 15540515 | Human | 1 | name |
| 156311986 | CV2120076 | single nucleotide variant | NM_006765.4(TUSC3):c.640T>C (p.Leu214=) | Intellectual disability, autosomal recessive 7 [RCV002962675] | likely benign | 8 | 15662228 | 15662228 | Human | 1 | name |
| 155941714 | CV2142993 | single nucleotide variant | NM_006765.4(TUSC3):c.867C>T (p.Ala289=) | Intellectual disability, autosomal recessive 7 [RCV002994097] | likely benign | 8 | 15743542 | 15743542 | Human | 1 | name |
| 156337374 | CV2168538 | single nucleotide variant | NM_006765.4(TUSC3):c.946C>T (p.Leu316=) | Intellectual disability, autosomal recessive 7 [RCV003030096] | likely benign | 8 | 15748383 | 15748383 | Human | 1 | name |
| 401829003 | CV2668596 | duplication | NM_006765.4(TUSC3):c.119dup (p.Gly41fs) | Intellectual disability, autosomal recessive 7 [RCV003326688] | likely pathogenic | 8 | 15540544 | 15540545 | Human | 1 | name |
| 401727246 | CV2736263 | single nucleotide variant | NM_006765.4(TUSC3):c.402T>C (p.Asp134=) | not provided [RCV003312711] | likely benign | 8 | 15650790 | 15650790 | Human | | name |
| 401925685 | CV2820924 | single nucleotide variant | NM_006765.4(TUSC3):c.534A>G (p.Leu178=) | not provided [RCV003436766] | likely benign | 8 | 15659614 | 15659614 | Human | | name |
| 401925686 | CV2820925 | single nucleotide variant | NM_006765.4(TUSC3):c.621A>G (p.Leu207=) | not provided [RCV003436767] | likely benign | 8 | 15662209 | 15662209 | Human | | name |
| 401923919 | CV2820926 | single nucleotide variant | NM_006765.4(TUSC3):c.717C>T (p.Val239=) | not provided [RCV003435454] | likely benign | 8 | 15673755 | 15673755 | Human | | name |
| 404979553 | CV2882593 | single nucleotide variant | NM_006765.4(TUSC3):c.924T>G (p.Val308=) | Intellectual disability, autosomal recessive 7 [RCV003511245] | likely benign | 8 | 15743599 | 15743599 | Human | 1 | name |
| 11604558 | CV304661 | single nucleotide variant | NM_006765.4(TUSC3):c.768T>C (p.Tyr256=) | Congenital disorder of glycosylation [RCV000310777]|Inborn genetic diseases [RCV002317859]|Intellectual disability, autosomal recessive 7 [RCV000910759]|not provided [RCV005243216]|not specified [RCV001821102] | likely benign|uncertain significance | 8 | 15673806 | 15673806 | Human | 3 | name |
| 408366266 | CV3500140 | duplication | NM_006765.4(TUSC3):c.279dup (p.Gln94fs) | not provided [RCV004722183] | pathogenic | 8 | 15623218 | 15623219 | Human | | name |
| 597864478 | CV3823165 | single nucleotide variant | NM_006765.4(TUSC3):c.849T>C (p.Ile283=) | Intellectual disability, autosomal recessive 7 [RCV005175515] | likely benign | 8 | 15730716 | 15730716 | Human | 1 | name |
| 597920209 | CV3842704 | single nucleotide variant | NM_006765.4(TUSC3):c.339G>A (p.Ala113=) | Intellectual disability, autosomal recessive 7 [RCV005184189] | likely benign | 8 | 15650727 | 15650727 | Human | 1 | name |
| 597865242 | CV3861187 | single nucleotide variant | NM_006765.4(TUSC3):c.363T>A (p.Ala121=) | Intellectual disability, autosomal recessive 7 [RCV005196535] | likely benign | 8 | 15650751 | 15650751 | Human | 1 | name |
| 13524143 | CV486702 | deletion | NM_006765.4(TUSC3):c.225del (p.Lys75fs) | Intellectual disability, autosomal recessive 7 [RCV000585790] | pathogenic | 8 | 15623163 | 15623163 | Human | 1 | name |
| 13517277 | CV492697 | single nucleotide variant | NM_006765.4(TUSC3):c.44G>C (p.Arg15Pro) | Inborn genetic diseases [RCV002532572]|not provided [RCV000596429] | uncertain significance | 8 | 15540474 | 15540474 | Human | 1 | name |
| 13704258 | CV538399 | single nucleotide variant | NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) | Congenital disorder of glycosylation [RCV001165316]|Inborn genetic diseases [RCV002315985]|Intellectual disability, autosomal recessive 7 [RCV000660588]|TUSC3-related disorder [RCV004758721]|not provided [RCV001731854] | likely benign|uncertain significance | 8 | 15540468 | 15540468 | Human | 3 | name , trait , alternate_id |
| 13830024 | CV579370 | single nucleotide variant | NM_006765.4(TUSC3):c.951G>C (p.Val317=) | Inborn genetic diseases [RCV002318813] | likely benign | 8 | 15748388 | 15748388 | Human | 1 | name |
| 13829556 | CV579386 | single nucleotide variant | NM_006765.4(TUSC3):c.537A>T (p.Ala179=) | Inborn genetic diseases [RCV002315408] | likely benign | 8 | 15659617 | 15659617 | Human | 1 | name |
| 15138998 | CV736555 | single nucleotide variant | NM_006765.4(TUSC3):c.462T>C (p.Phe154=) | not provided [RCV000899077] | likely benign | 8 | 15659542 | 15659542 | Human | | name |
| 15151940 | CV736556 | single nucleotide variant | NM_006765.4(TUSC3):c.504C>G (p.Leu168=) | not provided [RCV000901462] | likely benign | 8 | 15659584 | 15659584 | Human | | name |
| 15134358 | CV751045 | single nucleotide variant | NM_006765.4(TUSC3):c.648T>C (p.Tyr216=) | Intellectual disability, autosomal recessive 7 [RCV002542162] | likely benign | 8 | 15662236 | 15662236 | Human | 1 | name |
| 26906985 | CV834521 | single nucleotide variant | NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg) | Intellectual disability, autosomal recessive 7 [RCV001052006] | uncertain significance | 8 | 15540497 | 15540497 | Human | 1 | name |
| 28874350 | CV899153 | single nucleotide variant | NM_006765.4(TUSC3):c.62C>G (p.Pro21Arg) | Congenital disorder of glycosylation [RCV001165317] | uncertain significance | 8 | 15540492 | 15540492 | Human | 1 | name |
| 28905735 | CV899155 | single nucleotide variant | NM_006765.4(TUSC3):c.408G>A (p.Gly136=) | Congenital disorder of glycosylation [RCV001158588]|not provided [RCV001726437] | likely benign|uncertain significance | 8 | 15650796 | 15650796 | Human | 1 | name |
| 28867321 | CV899158 | single nucleotide variant | NM_006765.4(TUSC3):c.843A>G (p.Ser281=) | Congenital disorder of glycosylation [RCV001161811] | uncertain significance | 8 | 15730710 | 15730710 | Human | 1 | name |
| 28867326 | CV899159 | single nucleotide variant | NM_006765.4(TUSC3):c.852T>C (p.Ile284=) | Congenital disorder of glycosylation [RCV001161812]|not provided [RCV003438692] | likely benign|uncertain significance | 8 | 15730719 | 15730719 | Human | 1 | name |
| 38457068 | CV955376 | single nucleotide variant | NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly) | Intellectual disability, autosomal recessive 7 [RCV001245974] | uncertain significance | 8 | 15540461 | 15540461 | Human | 1 | name |
| 150545423 | CV1315578 | single nucleotide variant | NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) | Intellectual disability, autosomal recessive 7 [RCV001783995]|not provided [RCV003442905] | likely pathogenic | 8 | 15623161 | 15623161 | Human | 1 | name |
| 151354098 | CV1327650 | single nucleotide variant | NM_006765.4(TUSC3):c.283C>G (p.Pro95Ala) | not specified [RCV001817594] | uncertain significance | 8 | 15623224 | 15623224 | Human | | name |
| 8661026 | CV136138 | single nucleotide variant | NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) | Congenital disorder of glycosylation [RCV001158587]|Inborn genetic diseases [RCV002312531]|Intellectual disability, autosomal recessive 7 [RCV000988037]|TUSC3-related disorder [RCV003925163]|not provided [RCV000118806]|not specified [RCV000175831] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 15623134 | 15623134 | Human | 3 | name , trait , alternate_id |
| 151717858 | CV1420563 | single nucleotide variant | NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys) | Intellectual disability, autosomal recessive 7 [RCV002027519] | uncertain significance | 8 | 15623128 | 15623128 | Human | 1 | name |
| 155734435 | CV1797610 | single nucleotide variant | NM_006765.4(TUSC3):c.116G>C (p.Gly39Ala) | Inborn genetic diseases [RCV002330015] | uncertain significance | 8 | 15540546 | 15540546 | Human | 1 | name |
| 155732746 | CV1835444 | single nucleotide variant | NM_006765.4(TUSC3):c.188G>C (p.Arg63Pro) | Inborn genetic diseases [RCV002408004] | uncertain significance | 8 | 15623129 | 15623129 | Human | 1 | name |
| 156149898 | CV1929141 | single nucleotide variant | NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile) | Intellectual disability, autosomal recessive 7 [RCV002623966] | uncertain significance | 8 | 15623083 | 15623083 | Human | 1 | name |
| 156280983 | CV1964378 | single nucleotide variant | NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala) | Intellectual disability, autosomal recessive 7 [RCV002577476] | uncertain significance | 8 | 15623179 | 15623179 | Human | 1 | name |
| 156320750 | CV2071387 | single nucleotide variant | NM_006765.4(TUSC3):c.116G>T (p.Gly39Val) | Intellectual disability, autosomal recessive 7 [RCV002834677] | uncertain significance | 8 | 15540546 | 15540546 | Human | 1 | name |
| 8560361 | CV23222 | duplication | NM_006765.4(TUSC3):c.786dup (p.Asn263fs) | Intellectual disability, autosomal recessive 7 [RCV000008662] | pathogenic | 8 | 15673823 | 15673824 | Human | 1 | name |
| 156448879 | CV2402299 | single nucleotide variant | NM_006765.4(TUSC3):c.244C>T (p.Arg82Ter) | not provided [RCV003120458] | pathogenic | 8 | 15623185 | 15623185 | Human | | name |
| 329386986 | CV2452754 | single nucleotide variant | NM_006765.4(TUSC3):c.162G>T (p.Glu54Asp) | Inborn genetic diseases [RCV003215030] | uncertain significance | 8 | 15623103 | 15623103 | Human | 1 | name |
| 11639474 | CV268774 | single nucleotide variant | NM_006765.4(TUSC3):c.290G>A (p.Arg97Gln) | not provided [RCV000320377] | uncertain significance | 8 | 15623231 | 15623231 | Human | | name |
| 404977765 | CV2851435 | single nucleotide variant | NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln) | Intellectual disability, autosomal recessive 7 [RCV003486282] | uncertain significance | 8 | 15623162 | 15623162 | Human | 1 | name |
| 11612130 | CV313569 | single nucleotide variant | NM_006765.4(TUSC3):c.259A>G (p.Ile87Val) | Congenital disorder of glycosylation [RCV000404448] | uncertain significance | 8 | 15623200 | 15623200 | Human | 1 | name |
| 405809569 | CV3344659 | single nucleotide variant | NM_006765.4(TUSC3):c.115G>C (p.Gly39Arg) | Inborn genetic diseases [RCV004481810] | uncertain significance | 8 | 15540545 | 15540545 | Human | 1 | name |
| 597635637 | CV3628731 | single nucleotide variant | NM_006765.4(TUSC3):c.185G>T (p.Arg62Ile) | Inborn genetic diseases [RCV004969669] | uncertain significance | 8 | 15623126 | 15623126 | Human | 1 | name |
| 597834095 | CV3735755 | single nucleotide variant | NM_006765.4(TUSC3):c.199C>T (p.Arg67Ter) | not provided [RCV005063618] | pathogenic | 8 | 15623140 | 15623140 | Human | | name |
| 597871405 | CV3835677 | single nucleotide variant | NM_006765.4(TUSC3):c.244C>G (p.Arg82Gly) | Intellectual disability, autosomal recessive 7 [RCV005176668] | uncertain significance | 8 | 15623185 | 15623185 | Human | 1 | name |
| 8568162 | CV39133 | single nucleotide variant | NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter) | Abnormality of the nervous system [RCV001814010]|Intellectual disability, autosomal recessive 7 [RCV000023095] | pathogenic|likely pathogenic | 8 | 15623104 | 15623104 | Human | 3 | name |
| 13829574 | CV579394 | indel | NM_006765.4(TUSC3):c.568-4_568-3delinsAT | Inborn genetic diseases [RCV002315429] | uncertain significance | 8 | 15662152 | 15662153 | Human | | name |
| 13828420 | CV579557 | single nucleotide variant | NM_006765.4(TUSC3):c.266T>C (p.Met89Thr) | Inborn genetic diseases [RCV002312431] | uncertain significance | 8 | 15623207 | 15623207 | Human | 1 | name |
| 14693820 | CV620296 | deletion | NM_006765.4(TUSC3):c.414del (p.Asp138fs) | Congenital disorder of glycosylation [RCV000779555] | uncertain significance | 8 | 15650802 | 15650802 | Human | | name |
| 38465962 | CV962048 | duplication | NM_006765.4(TUSC3):c.420dup (p.Gln141fs) | Intellectual disability, autosomal recessive 7 [RCV001250412] | pathogenic | 8 | 15650803 | 15650804 | Human | 1 | name |
| 126769288 | CV1007942 | single nucleotide variant | NM_006765.4(TUSC3):c.670T>G (p.Phe224Val) | Intellectual disability, autosomal recessive 7 [RCV001321865] | uncertain significance | 8 | 15662258 | 15662258 | Human | 1 | name |
| 8642347 | CV101331 | single nucleotide variant | NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) | Inborn genetic diseases [RCV003338410]|Intellectual disability [RCV001171632]|Intellectual disability, autosomal recessive 24 [RCV003388826]|Intellectual disability, autosomal recessive 7 [RCV001039775]|not provided [RCV000081456] | pathogenic|likely pathogenic|uncertain significance | 8 | 15748429 | 15748429 | Human | 5 | name |
| 150484843 | CV1222580 | deletion | NM_006765.4(TUSC3):c.1029-120_1029-119del | not provided [RCV001617583] | benign | 8 | 15757671 | 15757672 | Human | | name |
| 9693440 | CV178138 | single nucleotide variant | NM_006765.4(TUSC3):c.908C>G (p.Thr303Ser) | not provided [RCV000154105] | uncertain significance | 8 | 15743583 | 15743583 | Human | | name |
| 155722554 | CV1804443 | single nucleotide variant | NM_006765.4(TUSC3):c.649T>A (p.Leu217Met) | Inborn genetic diseases [RCV002364123]|not provided [RCV004694225] | uncertain significance | 8 | 15662237 | 15662237 | Human | 1 | name |
| 155716399 | CV1812590 | single nucleotide variant | NM_006765.4(TUSC3):c.697A>G (p.Met233Val) | Inborn genetic diseases [RCV002362543] | uncertain significance | 8 | 15662285 | 15662285 | Human | 1 | name |
| 155687755 | CV1817446 | single nucleotide variant | NM_006765.4(TUSC3):c.868G>T (p.Ala290Ser) | Inborn genetic diseases [RCV002373390] | uncertain significance | 8 | 15743543 | 15743543 | Human | 1 | name |
| 155737757 | CV1820146 | single nucleotide variant | NM_006765.4(TUSC3):c.780C>G (p.Asn260Lys) | Inborn genetic diseases [RCV002409937] | uncertain significance | 8 | 15673818 | 15673818 | Human | 1 | name |
| 156028936 | CV1893456 | single nucleotide variant | NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr) | Intellectual disability, autosomal recessive 7 [RCV003078006] | uncertain significance | 8 | 15743543 | 15743543 | Human | 1 | name |
| 156414244 | CV1915861 | single nucleotide variant | NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile) | Intellectual disability, autosomal recessive 7 [RCV002588495] | uncertain significance | 8 | 15743538 | 15743538 | Human | 1 | name |
| 10406472 | CV207536 | single nucleotide variant | NM_006765.4(TUSC3):c.484A>G (p.Arg162Gly) | not specified [RCV000192742] | uncertain significance | 8 | 15659564 | 15659564 | Human | | name |
| 156209101 | CV2160363 | single nucleotide variant | NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr) | Intellectual disability, autosomal recessive 7 [RCV003042262] | uncertain significance | 8 | 15662169 | 15662169 | Human | 1 | name |
| 156036320 | CV2208387 | single nucleotide variant | NM_006765.4(TUSC3):c.414C>A (p.Asp138Glu) | Inborn genetic diseases [RCV002691944] | uncertain significance | 8 | 15650802 | 15650802 | Human | 1 | name |
| 155934618 | CV2225350 | single nucleotide variant | NM_006765.4(TUSC3):c.967G>C (p.Val323Leu) | Inborn genetic diseases [RCV002729265] | uncertain significance | 8 | 15748404 | 15748404 | Human | 1 | name |
| 329353266 | CV2477047 | single nucleotide variant | NM_006765.4(TUSC3):c.536C>T (p.Ala179Val) | not provided [RCV003223279] | uncertain significance | 8 | 15659616 | 15659616 | Human | | name |
| 401760699 | CV2706055 | single nucleotide variant | NM_006765.4(TUSC3):c.467C>G (p.Pro156Arg) | Inborn genetic diseases [RCV003257310] | uncertain significance | 8 | 15659547 | 15659547 | Human | 1 | name |
| 401887299 | CV2771869 | single nucleotide variant | NM_006765.4(TUSC3):c.304T>C (p.Cys102Arg) | Inborn genetic diseases [RCV003352334] | uncertain significance | 8 | 15623245 | 15623245 | Human | 1 | name |
| 401891144 | CV2778667 | single nucleotide variant | NM_006765.4(TUSC3):c.529C>T (p.Gln177Ter) | Inborn genetic diseases [RCV003354782] | pathogenic | 8 | 15659609 | 15659609 | Human | 1 | name |
| 11611627 | CV308396 | single nucleotide variant | NM_006765.4(TUSC3):c.677A>G (p.Tyr226Cys) | Congenital disorder of glycosylation [RCV000397959]|Inborn genetic diseases [RCV003243116] | uncertain significance | 8 | 15662265 | 15662265 | Human | 2 | name |
| 405809571 | CV3344660 | single nucleotide variant | NM_006765.4(TUSC3):c.338C>T (p.Ala113Val) | Inborn genetic diseases [RCV004481811] | uncertain significance | 8 | 15650726 | 15650726 | Human | 1 | name |
| 405809575 | CV3344662 | single nucleotide variant | NM_006765.4(TUSC3):c.568A>G (p.Ile190Val) | Inborn genetic diseases [RCV004481813] | uncertain significance | 8 | 15662156 | 15662156 | Human | 1 | name |
| 405809577 | CV3344663 | single nucleotide variant | NM_006765.4(TUSC3):c.658A>G (p.Asn220Asp) | Inborn genetic diseases [RCV004481814] | uncertain significance | 8 | 15662246 | 15662246 | Human | 1 | name |
| 405809579 | CV3344664 | single nucleotide variant | NM_006765.4(TUSC3):c.811G>A (p.Gly271Arg) | Inborn genetic diseases [RCV004481815] | uncertain significance | 8 | 15730678 | 15730678 | Human | 1 | name |
| 596927439 | CV3541085 | single nucleotide variant | NM_006765.4(TUSC3):c.327T>A (p.Tyr109Ter) | Intellectual disability, autosomal recessive 7 [RCV004796955] | likely pathogenic | 8 | 15650715 | 15650715 | Human | 1 | name |
| 597635629 | CV3628728 | single nucleotide variant | NM_006765.4(TUSC3):c.415G>A (p.Val139Ile) | Inborn genetic diseases [RCV004969667] | uncertain significance | 8 | 15650803 | 15650803 | Human | 1 | name |
| 597635633 | CV3628729 | single nucleotide variant | NM_006765.4(TUSC3):c.675C>G (p.Ile225Met) | Inborn genetic diseases [RCV004969668] | uncertain significance | 8 | 15662263 | 15662263 | Human | 1 | name |
| 597969801 | CV3791712 | single nucleotide variant | NM_006765.4(TUSC3):c.535G>A (p.Ala179Thr) | Intellectual disability, autosomal recessive 7 [RCV005141529] | uncertain significance | 8 | 15659615 | 15659615 | Human | 1 | name |
| 598231939 | CV3932309 | single nucleotide variant | NM_006765.4(TUSC3):c.847A>G (p.Ile283Val) | Inborn genetic diseases [RCV005295307] | uncertain significance | 8 | 15730714 | 15730714 | Human | 1 | name |
| 598231942 | CV3932310 | single nucleotide variant | NM_006765.4(TUSC3):c.712A>G (p.Ile238Val) | Inborn genetic diseases [RCV005295308] | uncertain significance | 8 | 15673750 | 15673750 | Human | 1 | name |
| 598231946 | CV3932311 | single nucleotide variant | NM_006765.4(TUSC3):c.685A>G (p.Thr229Ala) | Inborn genetic diseases [RCV005295309] | uncertain significance | 8 | 15662273 | 15662273 | Human | 1 | name |
| 598255229 | CV3932312 | single nucleotide variant | NM_006765.4(TUSC3):c.660C>G (p.Asn220Lys) | Inborn genetic diseases [RCV005299381] | uncertain significance | 8 | 15662248 | 15662248 | Human | 1 | name |
| 13214774 | CV428815 | single nucleotide variant | NM_006765.4(TUSC3):c.476G>A (p.Arg159Lys) | not specified [RCV000501680] | uncertain significance | 8 | 15659556 | 15659556 | Human | | name |
| 13829013 | CV579563 | single nucleotide variant | NM_006765.4(TUSC3):c.673A>G (p.Ile225Val) | Inborn genetic diseases [RCV002314431] | uncertain significance | 8 | 15662261 | 15662261 | Human | 1 | name |
| 28905741 | CV899156 | single nucleotide variant | NM_006765.4(TUSC3):c.482A>G (p.Lys161Arg) | Congenital disorder of glycosylation [RCV001158590] | uncertain significance | 8 | 15659562 | 15659562 | Human | 1 | name |
| 28867318 | CV899157 | single nucleotide variant | NM_006765.4(TUSC3):c.838G>A (p.Glu280Lys) | Congenital disorder of glycosylation [RCV001161810] | uncertain significance | 8 | 15730705 | 15730705 | Human | 1 | name |
| 28867327 | CV899160 | single nucleotide variant | NM_006765.4(TUSC3):c.934C>T (p.Arg312Trp) | Congenital disorder of glycosylation [RCV001161813]|Inborn genetic diseases [RCV002445404] | uncertain significance | 8 | 15743609 | 15743609 | Human | 2 | name |
| 38480158 | CV934228 | single nucleotide variant | NM_006765.4(TUSC3):c.557C>T (p.Thr186Met) | Intellectual disability, autosomal recessive 7 [RCV001206276] | uncertain significance | 8 | 15659637 | 15659637 | Human | 1 | name |
| 42723395 | CV984335 | single nucleotide variant | NM_006765.4(TUSC3):c.714A>G (p.Ile238Met) | Intellectual disability [RCV001291202] | likely pathogenic | 8 | 15673752 | 15673752 | Human | 2 | name |
| 155691900 | CV1827370 | duplication | NM_006765.4(TUSC3):c.1041dup (p.Glu348Ter) | Inborn genetic diseases [RCV002392266] | uncertain significance | 8 | 15757800 | 15757801 | Human | 1 | name |
| 156277828 | CV2209964 | single nucleotide variant | NM_006765.4(TUSC3):c.1033C>G (p.Leu345Val) | Inborn genetic diseases [RCV002669961] | uncertain significance | 8 | 15757795 | 15757795 | Human | 1 | name |
| 13480247 | CV444257 | single nucleotide variant | NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr) | Intellectual disability, autosomal recessive 7 [RCV001283843]|not provided [RCV002254929] | pathogenic|uncertain significance | 8 | 15748465 | 15748465 | Human | 1 | name |
| 13521260 | CV495605 | microsatellite | NM_006765.4(TUSC3):c.90GCT[5] (p.Leu34dup) | not provided [RCV000599309] | uncertain significance | 8 | 15540517 | 15540518 | Human | | name |
| 150435907 | CV1221761 | insertion | NM_006765.4(TUSC3):c.708+198_708+199insTAAA | not provided [RCV001609451] | benign | 8 | 15662494 | 15662495 | Human | | name |
| 155644929 | CV1708870 | indel | NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs) | Intellectual disability, autosomal recessive 7 [RCV002291467] | likely pathogenic | 8 | 15540485 | 15540499 | Human | | name |
