| 405271979 | CV3206365 | single nucleotide variant | NM_001004127.3(ALG11):c.-9C>T | ALG11-related disorder [RCV003971983] | likely benign | 13 | 52012410 | 52012410 | Human | | name , trait , alternate_id |
| 11603022 | CV319992 | single nucleotide variant | NM_001004127.2(ALG11):c.-23C>T | ALG11-congenital disorder of glycosylation [RCV000295863]|Wilson disease [RCV003144202]|not provided [RCV004693156]|not specified [RCV002248613] | uncertain significance | 13 | 52012396 | 52012396 | Human | 2 | name , trait , alternate_id |
| 28870014 | CV871467 | single nucleotide variant | NM_001004127.3(ALG11):c.*22G>T | ALG11-congenital disorder of glycosylation [RCV001113370] | uncertain significance | 13 | 52028612 | 52028612 | Human | 1 | name , trait , alternate_id |
| 153348700 | CV1692744 | single nucleotide variant | NM_001004127.3(ALG11):c.45-2A>T | not provided [RCV002274600] | likely pathogenic | 13 | 52018911 | 52018911 | Human | | name |
| 11606356 | CV320002 | single nucleotide variant | NM_001004127.3(ALG11):c.*406T>C | ALG11-congenital disorder of glycosylation [RCV000330702] | uncertain significance | 13 | 52028996 | 52028996 | Human | 1 | name , trait , alternate_id |
| 11602949 | CV320003 | single nucleotide variant | NM_001004127.3(ALG11):c.*515A>G | ALG11-congenital disorder of glycosylation [RCV000295578]|not provided [RCV001683258] | benign|likely benign | 13 | 52029105 | 52029105 | Human | 1 | name , trait , alternate_id |
| 11650667 | CV328565 | single nucleotide variant | NM_001004127.3(ALG11):c.*297G>A | ALG11-congenital disorder of glycosylation [RCV000294432] | uncertain significance | 13 | 52028887 | 52028887 | Human | 1 | name , trait , alternate_id |
| 11624711 | CV335052 | single nucleotide variant | NM_001004127.3(ALG11):c.*468G>T | ALG11-congenital disorder of glycosylation [RCV000389852]|not provided [RCV001618548] | benign | 13 | 52029058 | 52029058 | Human | 1 | name , trait , alternate_id |
| 11613611 | CV336949 | single nucleotide variant | NM_001004127.3(ALG11):c.*148A>T | ALG11-congenital disorder of glycosylation [RCV000269741] | uncertain significance | 13 | 52028738 | 52028738 | Human | 1 | name , trait , alternate_id |
| 11619804 | CV336951 | single nucleotide variant | NM_001004127.3(ALG11):c.*193A>C | ALG11-congenital disorder of glycosylation [RCV000329514]|not provided [RCV001711924] | benign | 13 | 52028783 | 52028783 | Human | 1 | name , trait , alternate_id |
| 11624276 | CV336956 | single nucleotide variant | NM_001004127.3(ALG11):c.*277G>T | ALG11-congenital disorder of glycosylation [RCV000384111] | uncertain significance | 13 | 52028867 | 52028867 | Human | 1 | name , trait , alternate_id |
| 11656778 | CV336963 | single nucleotide variant | NM_001004127.3(ALG11):c.*940A>C | Congenital disorder of glycosylation [RCV000336422] | uncertain significance | 13 | 52029530 | 52029530 | Human | 1 | name |
| 11625720 | CV336964 | single nucleotide variant | NM_001004127.3(ALG11):c.*953A>G | ALG11-congenital disorder of glycosylation [RCV000402569] | uncertain significance | 13 | 52029543 | 52029543 | Human | 1 | name , trait , alternate_id |
| 28870017 | CV871468 | single nucleotide variant | NM_001004127.3(ALG11):c.*173G>A | ALG11-congenital disorder of glycosylation [RCV001113371]|not provided [RCV001779118] | likely benign | 13 | 52028763 | 52028763 | Human | 1 | name , trait , alternate_id |
| 28870021 | CV871469 | single nucleotide variant | NM_001004127.3(ALG11):c.*386C>T | ALG11-congenital disorder of glycosylation [RCV001113372] | uncertain significance | 13 | 52028976 | 52028976 | Human | 1 | name , trait , alternate_id |
| 28872903 | CV871470 | single nucleotide variant | NM_001004127.3(ALG11):c.*490C>T | ALG11-congenital disorder of glycosylation [RCV001114745] | uncertain significance | 13 | 52029080 | 52029080 | Human | 1 | name , trait , alternate_id |
| 28872904 | CV871471 | single nucleotide variant | NM_001004127.3(ALG11):c.*491G>A | ALG11-congenital disorder of glycosylation [RCV001114746] | uncertain significance | 13 | 52029081 | 52029081 | Human | 1 | name , trait , alternate_id |
| 28872906 | CV871472 | single nucleotide variant | NM_001004127.3(ALG11):c.*540T>A | ALG11-congenital disorder of glycosylation [RCV001114747]|not provided [RCV004693700] | uncertain significance | 13 | 52029130 | 52029130 | Human | 1 | name , trait , alternate_id |
| 28910377 | CV871474 | single nucleotide variant | NM_001004127.3(ALG11):c.*754A>C | ALG11-congenital disorder of glycosylation [RCV001109119] | uncertain significance | 13 | 52029344 | 52029344 | Human | 1 | name , trait , alternate_id |
| 28910378 | CV871475 | single nucleotide variant | NM_001004127.3(ALG11):c.*789A>G | ALG11-congenital disorder of glycosylation [RCV001109120] | uncertain significance | 13 | 52029379 | 52029379 | Human | 1 | name , trait , alternate_id |
| 150480875 | CV1258809 | single nucleotide variant | NM_001004127.3(ALG11):c.*1170G>A | not provided [RCV001685939] | benign | 13 | 52029760 | 52029760 | Human | | name |
| 152150219 | CV1531262 | single nucleotide variant | NM_001004127.3(ALG11):c.44+19G>A | ALG11-congenital disorder of glycosylation [RCV002201849] | likely benign | 13 | 52012481 | 52012481 | Human | 1 | name , trait , alternate_id |
| 155905539 | CV2048105 | single nucleotide variant | NM_001004127.3(ALG11):c.44+14C>G | ALG11-congenital disorder of glycosylation [RCV002771242] | likely benign | 13 | 52012476 | 52012476 | Human | 1 | name , trait , alternate_id |
| 12840774 | CV373872 | single nucleotide variant | NM_001004127.3(ALG11):c.44+20G>T | ALG11-congenital disorder of glycosylation [RCV002058941]|not provided [RCV001703856] | benign|likely benign | 13 | 52012482 | 52012482 | Human | 1 | name , trait , alternate_id |
| 15131751 | CV744989 | single nucleotide variant | NM_001004127.3(ALG11):c.44+10C>G | not provided [RCV000897831] | likely benign | 13 | 52012472 | 52012472 | Human | | name |
| 127310850 | CV1144292 | single nucleotide variant | NM_001004127.3(ALG11):c.44+154G>A | ALG11-congenital disorder of glycosylation [RCV001481254]|not provided [RCV001561412] | likely benign | 13 | 52012616 | 52012616 | Human | 1 | name , trait , alternate_id |
| 150416534 | CV1181129 | single nucleotide variant | NM_001004127.3(ALG11):c.45-121G>A | not provided [RCV001549701] | likely benign | 13 | 52018792 | 52018792 | Human | | name |
| 150487900 | CV1208173 | single nucleotide variant | NM_001004127.3(ALG11):c.45-331G>C | not provided [RCV001592033] | likely benign | 13 | 52018582 | 52018582 | Human | | name |
| 152111443 | CV1640394 | single nucleotide variant | NM_001004127.3(ALG11):c.1208-7T>C | ALG11-congenital disorder of glycosylation [RCV002174386] | likely benign | 13 | 52028312 | 52028312 | Human | 1 | name , trait , alternate_id |
| 11609121 | CV320000 | single nucleotide variant | NM_001004127.3(ALG11):c.1208-6T>C | ALG11-congenital disorder of glycosylation [RCV000364304] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 13 | 52028313 | 52028313 | Human | 1 | name , trait , alternate_id |
| 13506514 | CV463943 | single nucleotide variant | NM_001004127.3(ALG11):c.44+324T>C | ALG11-congenital disorder of glycosylation [RCV000576187]|not provided [RCV004705673] | likely benign | 13 | 52012786 | 52012786 | Human | 1 | name , trait , alternate_id |
| 150503892 | CV1223841 | duplication | NM_001004127.3(ALG11):c.276-194dup | not provided [RCV001621490] | benign | 13 | 52023792 | 52023793 | Human | | name |
| 150430095 | CV1231970 | single nucleotide variant | NM_001004127.3(ALG11):c.1207+62A>G | not provided [RCV001641232]|not specified [RCV004598066] | benign | 13 | 52024999 | 52024999 | Human | | name |
| 150440999 | CV1267006 | single nucleotide variant | NM_001004127.3(ALG11):c.276-254A>G | not provided [RCV001690442] | benign | 13 | 52023752 | 52023752 | Human | | name |
| 152111437 | CV1640393 | single nucleotide variant | NM_001004127.3(ALG11):c.1208-14G>T | ALG11-congenital disorder of glycosylation [RCV002174385] | likely benign | 13 | 52028305 | 52028305 | Human | 1 | name , trait , alternate_id |
| 150482657 | CV1210003 | single nucleotide variant | NM_001004127.3(ALG11):c.1208-225T>A | not provided [RCV001590701] | likely benign | 13 | 52028094 | 52028094 | Human | | name |
| 155268631 | CV1705458 | duplication | NM_001004127.3(ALG11):c.1208-213dup | not provided [RCV002286063] | likely benign | 13 | 52028094 | 52028095 | Human | | name |
| 405038483 | CV3066175 | single nucleotide variant | NM_001004127.3(ALG11):c.6G>A (p.Ala2=) | ALG11-congenital disorder of glycosylation [RCV003634162] | likely benign | 13 | 52012424 | 52012424 | Human | 1 | name , trait , alternate_id |
| 152115091 | CV1600447 | single nucleotide variant | NM_001004127.3(ALG11):c.18G>A (p.Arg6=) | ALG11-congenital disorder of glycosylation [RCV002097369] | likely benign | 13 | 52012436 | 52012436 | Human | 1 | name , trait , alternate_id |
| 405275436 | CV3204465 | single nucleotide variant | NM_001004127.3(ALG11):c.27C>T (p.Cys9=) | ALG11-related disorder [RCV003937307] | likely benign | 13 | 52012445 | 52012445 | Human | | name , trait , alternate_id |
| 126742959 | CV1017762 | single nucleotide variant | NM_001004127.3(ALG11):c.1A>G (p.Met1Val) | ALG11-congenital disorder of glycosylation [RCV001330082] | likely pathogenic | 13 | 52012419 | 52012419 | Human | 1 | name , trait , alternate_id |
| 150338675 | CV1174329 | single nucleotide variant | NM_001004127.3(ALG11):c.2T>C (p.Met1Thr) | ALG11-congenital disorder of glycosylation [RCV001542779] | likely pathogenic | 13 | 52012420 | 52012420 | Human | 1 | name , trait , alternate_id |
| 11663538 | CV328552 | single nucleotide variant | NM_001004127.3(ALG11):c.75C>T (p.Leu25=) | ALG11-congenital disorder of glycosylation [RCV000396940] | uncertain significance | 13 | 52018943 | 52018943 | Human | 1 | name , trait , alternate_id |
| 14708179 | CV642054 | single nucleotide variant | NM_001004127.3(ALG11):c.5C>T (p.Ala2Val) | ALG11-congenital disorder of glycosylation [RCV000809010] | uncertain significance | 13 | 52012423 | 52012423 | Human | 1 | name , trait , alternate_id |
| 150412357 | CV1191530 | single nucleotide variant | NM_001004127.3(ALG11):c.14A>G (p.Glu5Gly) | not provided [RCV001566914] | uncertain significance | 13 | 52012432 | 52012432 | Human | | name |
| 405038330 | CV3060293 | single nucleotide variant | NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter) | ALG11-congenital disorder of glycosylation [RCV003634014] | pathogenic | 13 | 52012445 | 52012445 | Human | 1 | name , trait , alternate_id |
| 405801206 | CV3271356 | single nucleotide variant | NM_001004127.3(ALG11):c.26G>A (p.Cys9Tyr) | Inborn genetic diseases [RCV004403244] | likely benign | 13 | 52012444 | 52012444 | Human | 1 | name |
| 28872613 | CV871457 | single nucleotide variant | NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser) | ALG11-congenital disorder of glycosylation [RCV001114641]|Inborn genetic diseases [RCV002556245] | uncertain significance | 13 | 52012428 | 52012428 | Human | 2 | name , trait , alternate_id |
| 28872615 | CV871458 | single nucleotide variant | NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) | ALG11-congenital disorder of glycosylation [RCV001114642] | uncertain significance | 13 | 52012439 | 52012439 | Human | 1 | name , trait , alternate_id |
| 151877802 | CV1460235 | single nucleotide variant | NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly) | ALG11-congenital disorder of glycosylation [RCV002036469] | uncertain significance | 13 | 52012449 | 52012449 | Human | 1 | name , trait , alternate_id |
| 152120453 | CV1547390 | single nucleotide variant | NM_001004127.3(ALG11):c.987G>A (p.Lys329=) | ALG11-congenital disorder of glycosylation [RCV002081478] | likely benign | 13 | 52024717 | 52024717 | Human | 1 | name , trait , alternate_id |
| 152072412 | CV1549379 | single nucleotide variant | NM_001004127.3(ALG11):c.874T>C (p.Leu292=) | ALG11-congenital disorder of glycosylation [RCV002091768] | likely benign | 13 | 52024604 | 52024604 | Human | 1 | name , trait , alternate_id |
| 152149226 | CV1566489 | single nucleotide variant | NM_001004127.3(ALG11):c.402G>A (p.Arg134=) | ALG11-congenital disorder of glycosylation [RCV002139263] | likely benign | 13 | 52024132 | 52024132 | Human | 1 | name , trait , alternate_id |
| 156399188 | CV1897389 | single nucleotide variant | NM_001004127.3(ALG11):c.534C>T (p.Tyr178=) | ALG11-congenital disorder of glycosylation [RCV002584692] | likely benign | 13 | 52024264 | 52024264 | Human | 1 | name , trait , alternate_id |
| 156069552 | CV1952599 | single nucleotide variant | NM_001004127.3(ALG11):c.309C>T (p.Gly103=) | ALG11-congenital disorder of glycosylation [RCV002569563] | likely benign | 13 | 52024039 | 52024039 | Human | 1 | name , trait , alternate_id |
| 156348936 | CV2125279 | single nucleotide variant | NM_001004127.3(ALG11):c.306C>T (p.Thr102=) | ALG11-congenital disorder of glycosylation [RCV002966147] | likely benign | 13 | 52024036 | 52024036 | Human | 1 | name , trait , alternate_id |
| 329350065 | CV2460472 | single nucleotide variant | NM_001004127.3(ALG11):c.70G>A (p.Gly24Arg) | Inborn genetic diseases [RCV003203392] | uncertain significance | 13 | 52018938 | 52018938 | Human | 1 | name |
| 11641240 | CV269900 | single nucleotide variant | NM_001004127.3(ALG11):c.97G>A (p.Val33Met) | not provided [RCV000353366] | uncertain significance | 13 | 52018965 | 52018965 | Human | | name |
| 402486159 | CV2906091 | single nucleotide variant | NM_001004127.3(ALG11):c.445C>T (p.Leu149=) | ALG11-congenital disorder of glycosylation [RCV003516668] | likely benign | 13 | 52024175 | 52024175 | Human | 1 | name , trait , alternate_id |
| 402487716 | CV2932824 | single nucleotide variant | NM_001004127.3(ALG11):c.612C>T (p.Thr204=) | ALG11-congenital disorder of glycosylation [RCV003517785]|ALG11-related disorder [RCV003939128] | likely benign | 13 | 52024342 | 52024342 | Human | 1 | name , trait , alternate_id |
| 11608702 | CV319995 | single nucleotide variant | NM_001004127.3(ALG11):c.933G>A (p.Pro311=) | ALG11-congenital disorder of glycosylation [RCV000539935]|ALG11-related disorder [RCV003972330]|not provided [RCV004707103]|not specified [RCV000443076] | benign|likely benign | 13 | 52024663 | 52024663 | Human | 1 | name , trait , alternate_id |
| 405277395 | CV3208868 | single nucleotide variant | NM_001004127.3(ALG11):c.543G>A (p.Thr181=) | ALG11-related disorder [RCV003951665] | likely benign | 13 | 52024273 | 52024273 | Human | | name , trait , alternate_id |
| 11621660 | CV336938 | single nucleotide variant | NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr) | ALG11-congenital disorder of glycosylation [RCV000350822]|not provided [RCV000493317] | uncertain significance | 13 | 52012462 | 52012462 | Human | 1 | name , trait , alternate_id |
| 597647820 | CV3551649 | single nucleotide variant | NM_001004127.3(ALG11):c.29T>C (p.Leu10Pro) | not provided [RCV004820362] | uncertain significance | 13 | 52012447 | 52012447 | Human | | name |
| 597680188 | CV3681435 | single nucleotide variant | NM_001004127.3(ALG11):c.52T>A (p.Tyr18Asn) | Inborn genetic diseases [RCV004982608] | uncertain significance | 13 | 52018920 | 52018920 | Human | 1 | name |
| 597843668 | CV3745800 | single nucleotide variant | NM_001004127.3(ALG11):c.432T>C (p.Tyr144=) | ALG11-congenital disorder of glycosylation [RCV005075785] | likely benign | 13 | 52024162 | 52024162 | Human | 1 | name , trait , alternate_id |
| 597847568 | CV3784005 | single nucleotide variant | NM_001004127.3(ALG11):c.816G>T (p.Gly272=) | ALG11-congenital disorder of glycosylation [RCV005122308] | likely benign | 13 | 52024546 | 52024546 | Human | 1 | name , trait , alternate_id |
| 13516655 | CV494133 | single nucleotide variant | NM_001004127.3(ALG11):c.789C>T (p.Asn263=) | not provided [RCV000595801] | uncertain significance | 13 | 52024519 | 52024519 | Human | | name |
| 13526085 | CV504575 | single nucleotide variant | NM_001004127.3(ALG11):c.696A>T (p.Val232=) | not specified [RCV000603643] | likely benign | 13 | 52024426 | 52024426 | Human | | name |
| 15182728 | CV713958 | single nucleotide variant | NM_001004127.3(ALG11):c.804A>G (p.Leu268=) | not provided [RCV000974704] | likely benign | 13 | 52024534 | 52024534 | Human | | name |
| 15144197 | CV753874 | single nucleotide variant | NM_001004127.3(ALG11):c.774T>G (p.Ser258=) | not provided [RCV000922326] | likely benign | 13 | 52024504 | 52024504 | Human | | name |
| 15145007 | CV753875 | single nucleotide variant | NM_001004127.3(ALG11):c.870T>C (p.Ile290=) | not provided [RCV000922468] | likely benign | 13 | 52024600 | 52024600 | Human | | name |
| 15104034 | CV769616 | single nucleotide variant | NM_001004127.3(ALG11):c.678T>C (p.Asn226=) | ALG11-congenital disorder of glycosylation [RCV001406950] | likely benign | 13 | 52024408 | 52024408 | Human | 1 | name , trait , alternate_id |
| 15132216 | CV769617 | single nucleotide variant | NM_001004127.3(ALG11):c.735A>T (p.Gly245=) | not provided [RCV000942362] | likely benign | 13 | 52024465 | 52024465 | Human | | name |
| 15197836 | CV769618 | single nucleotide variant | NM_001004127.3(ALG11):c.798C>T (p.Leu266=) | ALG11-congenital disorder of glycosylation [RCV005092834] | likely benign | 13 | 52024528 | 52024528 | Human | 1 | name , trait , alternate_id |
| 28910254 | CV871463 | single nucleotide variant | NM_001004127.3(ALG11):c.900A>T (p.Gly300=) | ALG11-congenital disorder of glycosylation [RCV001109010] | uncertain significance | 13 | 52024630 | 52024630 | Human | 1 | name , trait , alternate_id |
| 126920244 | CV1048380 | single nucleotide variant | NM_001004127.3(ALG11):c.187A>T (p.Met63Leu) | ALG11-congenital disorder of glycosylation [RCV001373697] | uncertain significance | 13 | 52019055 | 52019055 | Human | 1 | name , trait , alternate_id |
| 127329581 | CV1123438 | single nucleotide variant | NM_001004127.3(ALG11):c.1191C>T (p.Asn397=) | ALG11-congenital disorder of glycosylation [RCV001470318] | likely benign | 13 | 52024921 | 52024921 | Human | 1 | name , trait , alternate_id |
| 150536862 | CV1303759 | duplication | NM_001004127.3(ALG11):c.-4_13dup (p.Glu5fs) | not provided [RCV001763862] | uncertain significance | 13 | 52012409 | 52012410 | Human | | name |
| 151735544 | CV1465825 | single nucleotide variant | NM_001004127.3(ALG11):c.124A>G (p.Ile42Val) | ALG11-congenital disorder of glycosylation [RCV002041668] | uncertain significance | 13 | 52018992 | 52018992 | Human | 1 | name , trait , alternate_id |
| 155266862 | CV1701731 | single nucleotide variant | NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr) | ALG11-congenital disorder of glycosylation [RCV002283961] | uncertain significance | 13 | 52019119 | 52019119 | Human | 1 | name , trait , alternate_id |
| 10050661 | CV192263 | single nucleotide variant | NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro) | ALG11-congenital disorder of glycosylation [RCV001200939]|not provided [RCV000175645] | pathogenic|uncertain significance | 13 | 52019005 | 52019005 | Human | 1 | name , trait , alternate_id |
| 156353557 | CV1974840 | single nucleotide variant | NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly) | ALG11-congenital disorder of glycosylation [RCV002602000] | uncertain significance | 13 | 52019106 | 52019106 | Human | 1 | name , trait , alternate_id |
| 156359139 | CV2261007 | single nucleotide variant | NM_001004127.3(ALG11):c.182A>G (p.Asn61Ser) | Inborn genetic diseases [RCV002812548] | uncertain significance | 13 | 52019050 | 52019050 | Human | 1 | name |
| 156133773 | CV2350401 | single nucleotide variant | NM_001004127.3(ALG11):c.218A>G (p.Asn73Ser) | Inborn genetic diseases [RCV003003508] | uncertain significance | 13 | 52019086 | 52019086 | Human | 1 | name |
| 156061491 | CV2351330 | single nucleotide variant | NM_001004127.3(ALG11):c.111T>G (p.Ile37Met) | Inborn genetic diseases [RCV002978384] | uncertain significance | 13 | 52018979 | 52018979 | Human | 1 | name |
| 11350663 | CV237063 | single nucleotide variant | NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) | ALG11-congenital disorder of glycosylation [RCV001089396]|not provided [RCV000224166]|not specified [RCV000424347] | benign|likely benign | 13 | 52019041 | 52019041 | Human | 1 | name , trait , alternate_id |
| 11603148 | CV319994 | single nucleotide variant | NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) | ALG11-congenital disorder of glycosylation [RCV000823673]|Inborn genetic diseases [RCV002522294] | uncertain significance | 13 | 52019124 | 52019124 | Human | 2 | name , trait , alternate_id |
| 405801225 | CV3271347 | single nucleotide variant | NM_001004127.3(ALG11):c.193A>T (p.Ile65Phe) | Inborn genetic diseases [RCV004403235] | uncertain significance | 13 | 52019061 | 52019061 | Human | 1 | name |
| 11613465 | CV328564 | single nucleotide variant | NM_001004127.3(ALG11):c.1029A>G (p.Gly343=) | ALG11-congenital disorder of glycosylation [RCV000268441]|not provided [RCV004693157] | uncertain significance | 13 | 52024759 | 52024759 | Human | 1 | name , trait , alternate_id |
| 8555363 | CV33432 | single nucleotide variant | NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) | ALG11-congenital disorder of glycosylation [RCV000000004] | pathogenic | 13 | 52019125 | 52019125 | Human | 1 | name , trait , alternate_id |
| 408389758 | CV3519028 | single nucleotide variant | NM_001004127.3(ALG11):c.164C>G (p.Thr55Ser) | not provided [RCV004762337] | uncertain significance | 13 | 52019032 | 52019032 | Human | | name |
| 596923551 | CV3531965 | single nucleotide variant | NM_001004127.3(ALG11):c.163A>G (p.Thr55Ala) | ALG11-congenital disorder of glycosylation [RCV005254954]|not provided [RCV004777076] | uncertain significance | 13 | 52019031 | 52019031 | Human | 1 | name , trait , alternate_id |
| 12842547 | CV373873 | single nucleotide variant | NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) | ALG11-congenital disorder of glycosylation [RCV000648390]|not provided [RCV004705545]|not specified [RCV000434618] | benign|likely benign | 13 | 52024762 | 52024762 | Human | 1 | name , trait , alternate_id |
| 12847743 | CV373883 | single nucleotide variant | NM_001004127.3(ALG11):c.1257G>A (p.Ser419=) | not specified [RCV000444031] | likely benign | 13 | 52028368 | 52028368 | Human | | name |
| 597846806 | CV3763322 | deletion | NM_001004127.3(ALG11):c.887del (p.Lys296fs) | ALG11-congenital disorder of glycosylation [RCV005108917] | pathogenic | 13 | 52024613 | 52024613 | Human | 1 | name , trait , alternate_id |
| 598232449 | CV3966616 | single nucleotide variant | NM_001004127.3(ALG11):c.230G>A (p.Gly77Glu) | Inborn genetic diseases [RCV005342597] | uncertain significance | 13 | 52019098 | 52019098 | Human | 1 | name |
| 13541966 | CV504817 | single nucleotide variant | NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) | ALG11-congenital disorder of glycosylation [RCV000648392]|not specified [RCV000616883] | benign|likely benign | 13 | 52024837 | 52024837 | Human | 1 | name , trait , alternate_id |
| 15189484 | CV725512 | single nucleotide variant | NM_001004127.3(ALG11):c.1452A>G (p.Leu484=) | ALG11-congenital disorder of glycosylation [RCV002065538]|not provided [RCV003392677] | likely benign | 13 | 52028563 | 52028563 | Human | 1 | name , trait , alternate_id |
| 15188148 | CV739068 | single nucleotide variant | NM_001004127.3(ALG11):c.1074A>G (p.Arg358=) | not provided [RCV000909287] | likely benign | 13 | 52024804 | 52024804 | Human | | name |
| 15112524 | CV753876 | single nucleotide variant | NM_001004127.3(ALG11):c.1293A>G (p.Glu431=) | not provided [RCV000916926] | likely benign | 13 | 52028404 | 52028404 | Human | | name |
| 15190262 | CV769619 | single nucleotide variant | NM_001004127.3(ALG11):c.1008G>A (p.Ser336=) | not provided [RCV000932470] | likely benign | 13 | 52024738 | 52024738 | Human | | name |
| 15193805 | CV769620 | single nucleotide variant | NM_001004127.3(ALG11):c.1344T>G (p.Thr448=) | not provided [RCV000933462] | likely benign | 13 | 52028455 | 52028455 | Human | | name |
| 28872617 | CV871459 | single nucleotide variant | NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg) | ALG11-congenital disorder of glycosylation [RCV001114643] | uncertain significance | 13 | 52019036 | 52019036 | Human | 1 | name , trait , alternate_id |
| 28872620 | CV871460 | single nucleotide variant | NM_001004127.3(ALG11):c.190G>A (p.Val64Met) | ALG11-congenital disorder of glycosylation [RCV001114644] | uncertain significance | 13 | 52019058 | 52019058 | Human | 1 | name , trait , alternate_id |
| 28910252 | CV871461 | single nucleotide variant | NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg) | ALG11-congenital disorder of glycosylation [RCV001109008] | uncertain significance | 13 | 52024011 | 52024011 | Human | 1 | name , trait , alternate_id |
| 28911931 | CV871466 | single nucleotide variant | NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) | ALG11-congenital disorder of glycosylation [RCV001111361] | conflicting interpretations of pathogenicity|uncertain significance | 13 | 52028380 | 52028380 | Human | 1 | name , trait , alternate_id |
| 126739392 | CV1010916 | single nucleotide variant | NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys) | ALG11-congenital disorder of glycosylation [RCV001314235] | uncertain significance | 13 | 52024366 | 52024366 | Human | 1 | name , trait , alternate_id |
| 126742964 | CV1017763 | single nucleotide variant | NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) | ALG11-congenital disorder of glycosylation [RCV001330083] | uncertain significance | 13 | 52024721 | 52024721 | Human | 1 | name , trait , alternate_id |
| 126916394 | CV1048381 | single nucleotide variant | NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu) | ALG11-congenital disorder of glycosylation [RCV001371482]|Inborn genetic diseases [RCV004037507]|not provided [RCV004692665] | uncertain significance | 13 | 52024252 | 52024252 | Human | 2 | name , trait , alternate_id |
| 150535108 | CV1293630 | single nucleotide variant | NM_001004127.3(ALG11):c.940A>G (p.Asn314Asp) | not provided [RCV001757907] | uncertain significance | 13 | 52024670 | 52024670 | Human | | name |
| 151742874 | CV1353233 | single nucleotide variant | NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala) | ALG11-congenital disorder of glycosylation [RCV001893443] | uncertain significance | 13 | 52024676 | 52024676 | Human | 1 | name , trait , alternate_id |
| 151794036 | CV1420522 | single nucleotide variant | NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) | ALG11-congenital disorder of glycosylation [RCV002027486] | uncertain significance | 13 | 52024667 | 52024667 | Human | 1 | name , trait , alternate_id |
| 151835193 | CV1474684 | single nucleotide variant | NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) | ALG11-congenital disorder of glycosylation [RCV001920896]|not provided [RCV003395281] | uncertain significance | 13 | 52024055 | 52024055 | Human | 1 | name , trait , alternate_id |
| 151828974 | CV1514051 | single nucleotide variant | NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly) | ALG11-congenital disorder of glycosylation [RCV001955489] | uncertain significance | 13 | 52024392 | 52024392 | Human | 1 | name , trait , alternate_id |
| 156337898 | CV1902369 | single nucleotide variant | NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu) | ALG11-congenital disorder of glycosylation [RCV003090181] | uncertain significance | 13 | 52024094 | 52024094 | Human | 1 | name , trait , alternate_id |
| 10051476 | CV193452 | single nucleotide variant | NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) | ALG11-congenital disorder of glycosylation [RCV000576234]|not provided [RCV004706614]|not specified [RCV000177093] | benign|likely benign | 13 | 52024053 | 52024053 | Human | 1 | name , trait , alternate_id |
| 10051477 | CV193453 | single nucleotide variant | NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) | ALG11-congenital disorder of glycosylation [RCV000303679]|ALG11-related disorder [RCV003955052]|not provided [RCV000177094] | likely benign|uncertain significance | 13 | 52024532 | 52024532 | Human | 1 | name , trait , alternate_id |
| 156120334 | CV2183258 | single nucleotide variant | NM_001004127.3(ALG11):c.494T>C (p.Met165Thr) | ALG11-congenital disorder of glycosylation [RCV003039289] | uncertain significance | 13 | 52024224 | 52024224 | Human | 1 | name , trait , alternate_id |
| 156172521 | CV2194258 | single nucleotide variant | NM_001004127.3(ALG11):c.299T>C (p.Val100Ala) | Inborn genetic diseases [RCV002664811] | uncertain significance | 13 | 52024029 | 52024029 | Human | 1 | name |
| 156347446 | CV2297975 | single nucleotide variant | NM_001004127.3(ALG11):c.479G>T (p.Gly160Val) | Inborn genetic diseases [RCV002901028] | uncertain significance | 13 | 52024209 | 52024209 | Human | 1 | name |
| 243056659 | CV2411598 | single nucleotide variant | NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser) | ALG11-congenital disorder of glycosylation [RCV003141321] | uncertain significance | 13 | 52024500 | 52024500 | Human | 1 | name , trait , alternate_id |
| 401746678 | CV2710691 | single nucleotide variant | NM_001004127.3(ALG11):c.857C>T (p.Thr286Ile) | Inborn genetic diseases [RCV003277297] | uncertain significance | 13 | 52024587 | 52024587 | Human | 1 | name |
| 401855574 | CV2752992 | single nucleotide variant | NM_001004127.3(ALG11):c.932C>T (p.Pro311Leu) | ALG11-congenital disorder of glycosylation [RCV003338047]|Inborn genetic diseases [RCV004978832] | uncertain significance | 13 | 52024662 | 52024662 | Human | 2 | name , trait , alternate_id |
| 401902568 | CV2813910 | single nucleotide variant | NM_001004127.3(ALG11):c.646G>A (p.Gly216Arg) | not provided [RCV003393324]|not specified [RCV004690409] | likely benign|uncertain significance | 13 | 52024376 | 52024376 | Human | | name |
| 401905051 | CV2829468 | single nucleotide variant | NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg) | ALG11-congenital disorder of glycosylation [RCV003633718]|not provided [RCV003443512] | uncertain significance | 13 | 52024508 | 52024508 | Human | 1 | name , trait , alternate_id |
| 401905046 | CV2830900 | single nucleotide variant | NM_001004127.3(ALG11):c.407G>A (p.Arg136His) | not provided [RCV003442639] | uncertain significance | 13 | 52024137 | 52024137 | Human | | name |
| 405801202 | CV3271358 | single nucleotide variant | NM_001004127.3(ALG11):c.307G>A (p.Gly103Ser) | Inborn genetic diseases [RCV004403246] | uncertain significance | 13 | 52024037 | 52024037 | Human | 1 | name |
| 11625260 | CV335047 | single nucleotide variant | NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr) | ALG11-congenital disorder of glycosylation [RCV001052506]|Inborn genetic diseases [RCV004021575] | likely benign|uncertain significance | 13 | 52024265 | 52024265 | Human | 2 | name , trait , alternate_id |
| 407424712 | CV3409279 | single nucleotide variant | NM_001004127.3(ALG11):c.416T>G (p.Val139Gly) | Seizure [RCV004585210] | pathogenic | 13 | 52024146 | 52024146 | Human | 2 | name |
| 407426897 | CV3411697 | single nucleotide variant | NM_001004127.3(ALG11):c.839C>T (p.Pro280Leu) | not provided [RCV004590875] | uncertain significance | 13 | 52024569 | 52024569 | Human | | name |
| 407483622 | CV3437046 | single nucleotide variant | NM_001004127.3(ALG11):c.520G>C (p.Asp174His) | Inborn genetic diseases [RCV004630374] | uncertain significance | 13 | 52024250 | 52024250 | Human | 1 | name |
| 596938741 | CV3543000 | single nucleotide variant | NM_001004127.3(ALG11):c.305C>T (p.Thr102Ile) | not provided [RCV004798585] | uncertain significance | 13 | 52024035 | 52024035 | Human | | name |
| 597700181 | CV3681490 | single nucleotide variant | NM_001004127.3(ALG11):c.392T>G (p.Val131Gly) | Inborn genetic diseases [RCV004982629] | uncertain significance | 13 | 52024122 | 52024122 | Human | 1 | name |
| 597702511 | CV3714475 | single nucleotide variant | NM_001004127.3(ALG11):c.812T>C (p.Val271Ala) | ALG11-congenital disorder of glycosylation [RCV005006980] | uncertain significance | 13 | 52024542 | 52024542 | Human | 1 | name , trait , alternate_id |
| 598242747 | CV3966637 | single nucleotide variant | NM_001004127.3(ALG11):c.812T>G (p.Val271Gly) | Inborn genetic diseases [RCV005344590] | uncertain significance | 13 | 52024542 | 52024542 | Human | 1 | name |
| 598242785 | CV3966646 | single nucleotide variant | NM_001004127.3(ALG11):c.350T>C (p.Phe117Ser) | Inborn genetic diseases [RCV005344597] | uncertain significance | 13 | 52024080 | 52024080 | Human | 1 | name |
| 598242889 | CV3966666 | single nucleotide variant | NM_001004127.3(ALG11):c.743G>T (p.Gly248Val) | Inborn genetic diseases [RCV005344615] | uncertain significance | 13 | 52024473 | 52024473 | Human | 1 | name |
| 598242961 | CV3966682 | single nucleotide variant | NM_001004127.3(ALG11):c.740T>C (p.Val247Ala) | Inborn genetic diseases [RCV005344629] | uncertain significance | 13 | 52024470 | 52024470 | Human | 1 | name |
| 598243008 | CV3966690 | single nucleotide variant | NM_001004127.3(ALG11):c.910G>A (p.Val304Ile) | Inborn genetic diseases [RCV005344637] | uncertain significance | 13 | 52024640 | 52024640 | Human | 1 | name |
| 8568945 | CV40321 | single nucleotide variant | NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) | ALG11-congenital disorder of glycosylation [RCV000024340]|ALG11-related disorder [RCV004758600] | pathogenic|likely pathogenic | 13 | 52024566 | 52024566 | Human | 1 | name , trait , alternate_id |
| 8568948 | CV40324 | single nucleotide variant | NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) | ALG11-congenital disorder of glycosylation [RCV000024343] | pathogenic | 13 | 52024683 | 52024683 | Human | 1 | name , trait , alternate_id |
| 12895136 | CV409039 | single nucleotide variant | NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly) | ALG11-congenital disorder of glycosylation [RCV001200937]|not provided [RCV000485363] | pathogenic|likely pathogenic | 13 | 52024665 | 52024665 | Human | 1 | name , trait , alternate_id |
| 13621398 | CV527810 | single nucleotide variant | NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) | ALG11-congenital disorder of glycosylation [RCV000648389]|not provided [RCV001558426] | uncertain significance | 13 | 52024136 | 52024136 | Human | 1 | name , trait , alternate_id |
| 13822627 | CV572579 | single nucleotide variant | NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) | ALG11-congenital disorder of glycosylation [RCV000697546] | uncertain significance | 13 | 52024553 | 52024553 | Human | 1 | name , trait , alternate_id |
| 14712413 | CV642055 | single nucleotide variant | NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu) | ALG11-congenital disorder of glycosylation [RCV000810277] | uncertain significance | 13 | 52024629 | 52024629 | Human | 1 | name , trait , alternate_id |
| 28910253 | CV871462 | single nucleotide variant | NM_001004127.3(ALG11):c.526A>G (p.Met176Val) | ALG11-congenital disorder of glycosylation [RCV001109009] | uncertain significance | 13 | 52024256 | 52024256 | Human | 1 | name , trait , alternate_id |
| 38488686 | CV926948 | single nucleotide variant | NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg) | ALG11-congenital disorder of glycosylation [RCV001221356]|Inborn genetic diseases [RCV004978133]|not provided [RCV002275315] | uncertain significance | 13 | 52024227 | 52024227 | Human | 2 | name , trait , alternate_id |
| 150406279 | CV1200217 | single nucleotide variant | NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr) | ALG11-congenital disorder of glycosylation [RCV001580273] | likely pathogenic | 13 | 52024914 | 52024914 | Human | 1 | name , trait , alternate_id |
| 150535085 | CV1293561 | single nucleotide variant | NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala) | ALG11-congenital disorder of glycosylation [RCV002032778]|Inborn genetic diseases [RCV005341037]|not provided [RCV001757838] | uncertain significance | 13 | 52024890 | 52024890 | Human | 2 | name , trait , alternate_id |
| 9692675 | CV177014 | single nucleotide variant | NM_001004127.3(ALG11):c.1183A>G (p.Met395Val) | not provided [RCV000152771] | uncertain significance | 13 | 52024913 | 52024913 | Human | | name |
| 9692676 | CV177277 | single nucleotide variant | NM_001004127.3(ALG11):c.1309T>G (p.Phe437Val) | not provided [RCV000152772] | uncertain significance | 13 | 52028420 | 52028420 | Human | | name |
| 155749361 | CV1775636 | single nucleotide variant | NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn) | ALG11-congenital disorder of glycosylation [RCV002304568] | uncertain significance | 13 | 52028384 | 52028384 | Human | 1 | name , trait , alternate_id |
| 155981338 | CV2233068 | single nucleotide variant | NM_001004127.3(ALG11):c.1267A>G (p.Lys423Glu) | Inborn genetic diseases [RCV002732495] | uncertain significance | 13 | 52028378 | 52028378 | Human | 1 | name |
| 11559899 | CV260050 | single nucleotide variant | NM_001004127.3(ALG11):c.1402C>T (p.Arg468Cys) | not provided [RCV000255231] | likely pathogenic | 13 | 52028513 | 52028513 | Human | | name |
| 401750678 | CV2689495 | single nucleotide variant | NM_001004127.3(ALG11):c.1291G>A (p.Glu431Lys) | Inborn genetic diseases [RCV003253734] | uncertain significance | 13 | 52028402 | 52028402 | Human | 1 | name |
| 401940558 | CV2839788 | single nucleotide variant | NM_001004127.3(ALG11):c.1036C>T (p.Arg346Cys) | ALG11-congenital disorder of glycosylation [RCV003456330] | uncertain significance | 13 | 52024766 | 52024766 | Human | 1 | name , trait , alternate_id |
| 405038992 | CV2923701 | single nucleotide variant | NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe) | ALG11-congenital disorder of glycosylation [RCV003517813] | uncertain significance | 13 | 52028331 | 52028331 | Human | 1 | name , trait , alternate_id |
| 405091273 | CV2986234 | single nucleotide variant | NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter) | ALG11-congenital disorder of glycosylation [RCV003634849] | uncertain significance | 13 | 52028573 | 52028573 | Human | 1 | name , trait , alternate_id |
| 11655128 | CV319996 | single nucleotide variant | NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe) | ALG11-congenital disorder of glycosylation [RCV000323525] | uncertain significance | 13 | 52024764 | 52024764 | Human | 1 | name , trait , alternate_id |
| 407429705 | CV3414133 | single nucleotide variant | NM_001004127.3(ALG11):c.1403G>A (p.Arg468His) | ALG11-congenital disorder of glycosylation [RCV004595725] | likely pathogenic | 13 | 52028514 | 52028514 | Human | 1 | name , trait , alternate_id |
| 407429706 | CV3414134 | single nucleotide variant | NM_001004127.3(ALG11):c.1307G>T (p.Gly436Val) | ALG11-congenital disorder of glycosylation [RCV004595726] | likely pathogenic | 13 | 52028418 | 52028418 | Human | 1 | name , trait , alternate_id |
| 407479722 | CV3437057 | single nucleotide variant | NM_001004127.3(ALG11):c.1363A>T (p.Met455Leu) | Inborn genetic diseases [RCV004630383] | likely benign | 13 | 52028474 | 52028474 | Human | 1 | name |
| 596943678 | CV3542999 | single nucleotide variant | NM_001004127.3(ALG11):c.1007C>T (p.Ser336Leu) | Inborn genetic diseases [RCV004981227]|not provided [RCV004798584] | uncertain significance | 13 | 52024737 | 52024737 | Human | 1 | name |
| 597680182 | CV3681427 | single nucleotide variant | NM_001004127.3(ALG11):c.1220G>A (p.Cys407Tyr) | Inborn genetic diseases [RCV004982607] | uncertain significance | 13 | 52028331 | 52028331 | Human | 1 | name |
| 597683468 | CV3681460 | single nucleotide variant | NM_001004127.3(ALG11):c.1304C>G (p.Thr435Ser) | Inborn genetic diseases [RCV004983729] | uncertain significance | 13 | 52028415 | 52028415 | Human | 1 | name |
| 597683475 | CV3681470 | single nucleotide variant | NM_001004127.3(ALG11):c.1015C>T (p.Leu339Phe) | Inborn genetic diseases [RCV004983730] | uncertain significance | 13 | 52024745 | 52024745 | Human | 1 | name |
| 597680284 | CV3681479 | single nucleotide variant | NM_001004127.3(ALG11):c.1146G>T (p.Lys382Asn) | Inborn genetic diseases [RCV004982626] | uncertain significance | 13 | 52024876 | 52024876 | Human | 1 | name |
| 597680300 | CV3681500 | single nucleotide variant | NM_001004127.3(ALG11):c.1399G>A (p.Ala467Thr) | Inborn genetic diseases [RCV004982630] | uncertain significance | 13 | 52028510 | 52028510 | Human | 1 | name |
| 598232498 | CV3966627 | single nucleotide variant | NM_001004127.3(ALG11):c.1122A>G (p.Ile374Met) | Inborn genetic diseases [RCV005342607] | uncertain significance | 13 | 52024852 | 52024852 | Human | 1 | name |
| 598242841 | CV3966657 | single nucleotide variant | NM_001004127.3(ALG11):c.1232G>C (p.Gly411Ala) | Inborn genetic diseases [RCV005344607] | uncertain significance | 13 | 52028343 | 52028343 | Human | 1 | name |
| 598242929 | CV3966673 | single nucleotide variant | NM_001004127.3(ALG11):c.1355T>C (p.Ile452Thr) | Inborn genetic diseases [RCV005344622] | uncertain significance | 13 | 52028466 | 52028466 | Human | 1 | name |
| 616936261 | CV4016265 | single nucleotide variant | NM_001004127.3(ALG11):c.1270C>G (p.Leu424Val) | not provided [RCV005415131] | uncertain significance | 13 | 52028381 | 52028381 | Human | | name |
| 8568946 | CV40322 | single nucleotide variant | NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) | ALG11-congenital disorder of glycosylation [RCV000024341] | pathogenic | 13 | 52024872 | 52024872 | Human | 1 | name , trait , alternate_id |
| 8568947 | CV40323 | single nucleotide variant | NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) | ALG11-congenital disorder of glycosylation [RCV000024342]|Inborn genetic diseases [RCV004975266] | pathogenic|uncertain significance | 13 | 52024922 | 52024922 | Human | 2 | name , trait , alternate_id |
| 12893745 | CV409041 | single nucleotide variant | NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) | ALG11-congenital disorder of glycosylation [RCV001200938]|not provided [RCV000480080] | pathogenic|likely pathogenic | 13 | 52028334 | 52028334 | Human | 1 | name , trait , alternate_id |
| 28911929 | CV871464 | single nucleotide variant | NM_001004127.3(ALG11):c.1037G>A (p.Arg346His) | ALG11-congenital disorder of glycosylation [RCV001111359] | uncertain significance | 13 | 52024767 | 52024767 | Human | 1 | name , trait , alternate_id |
| 28911930 | CV871465 | single nucleotide variant | NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala) | ALG11-congenital disorder of glycosylation [RCV001111360] | uncertain significance | 13 | 52028325 | 52028325 | Human | 1 | name , trait , alternate_id |
| 38480940 | CV948417 | single nucleotide variant | NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val) | ALG11-congenital disorder of glycosylation [RCV001234909] | likely benign|uncertain significance | 13 | 52028460 | 52028460 | Human | 1 | name , trait , alternate_id |
| 8640365 | CV99350 | single nucleotide variant | NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn) | ALG11-congenital disorder of glycosylation [RCV002305446]|not provided [RCV000079329] | likely pathogenic|uncertain significance | 13 | 52028352 | 52028352 | Human | 1 | name , trait , alternate_id |
| 8568944 | CV40320 | deletion | NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) | ALG11-congenital disorder of glycosylation [RCV000024339]|ALG11-related disorder [RCV004758599] | pathogenic|likely pathogenic | 13 | 52024352 | 52024371 | Human | 1 | name , trait , alternate_id |
| 12894940 | CV409040 | microsatellite | NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) | ALG11-congenital disorder of glycosylation [RCV001542780]|not provided [RCV000484706] | likely pathogenic|conflicting interpretations of pathogenicity | 13 | 52024712 | 52024714 | Human | | name , trait , alternate_id |
| 155644760 | CV1708789 | duplication | NM_001004127.3(ALG11):c.1302_1305dup (p.Gly436fs) | not provided [RCV002291386] | uncertain significance | 13 | 52028411 | 52028412 | Human | | name |
| 156017120 | CV2120622 | deletion | NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs) | ALG11-congenital disorder of glycosylation [RCV002975963] | uncertain significance | 13 | 52028584 | 52028587 | Human | 1 | name , trait , alternate_id |
| 11632648 | CV264524 | deletion | NM_001004127.3(ALG11):c.1123_1126del (p.Asn375fs) | not provided [RCV000271023] | pathogenic | 13 | 52024852 | 52024855 | Human | | name |
| 150541229 | CV1301207 | indel | NM_001004127.3(ALG11):c.276-13_276-10delinsGGTTAAGATTTTAAC | not provided [RCV001767617] | uncertain significance | 13 | 52023993 | 52023996 | Human | | name |
| 127258390 | CV1057637 | deletion | NC_000013.10:g.(?_52585403)_(52602726_?)del | ALG11-congenital disorder of glycosylation [RCV001871995]|Wilson disease [RCV001386933] | pathogenic | | | | Human | 2 | trait , alternate_id |
| 11350785 | CV237194 | single nucleotide variant | NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) | ALG11-congenital disorder of glycosylation [RCV001114749]|not provided [RCV000224403] | likely benign|uncertain significance | 13 | 52029312 | 52029312 | Human | 1 | trait , alternate_id |
| 405085704 | CV3081479 | single nucleotide variant | NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr) | ALG11-congenital disorder of glycosylation [RCV003634412] | uncertain significance | 13 | 52030585 | 52030585 | Human | 1 | trait , alternate_id |
| 11601466 | CV320004 | single nucleotide variant | NM_021645.6(UTP14C):c.835C>T (p.Leu279=) | ALG11-congenital disorder of glycosylation [RCV000282584]|not provided [RCV001709589] | benign | 13 | 52029639 | 52029639 | Human | 1 | trait , alternate_id |
| 407573039 | CV3498816 | deletion | NC_000013.10:g.(?_52586533)_(52607737_?)del | ALG11-congenital disorder of glycosylation [RCV004699785] | pathogenic | | | | Human | 1 | trait , alternate_id |
| 8569226 | CV44363 | duplication | NM_000053.4(ATP7B):c.-123_-119dupCGCCG | ALG11-congenital disorder of glycosylation [RCV001517235]|Congenital disorder of glycosylation [RCV000332700]|Inborn genetic diseases [RCV004017267]|Wilson disease [RCV000029348]|not provided [RCV001356992]|not specified [RCV002222329] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 13 | 52011455 | 52011456 | Human | 4 | trait , alternate_id |
| 13819512 | CV568228 | duplication | NC_000013.10:g.(?_52538988)_(52602746_?)dup | ALG11-congenital disorder of glycosylation [RCV000708392] | uncertain significance | 13 | 51964852 | 52028610 | Human | 1 | trait , alternate_id |
| 28872907 | CV871473 | single nucleotide variant | NM_021645.6(UTP14C):c.470T>G (p.Val157Gly) | ALG11-congenital disorder of glycosylation [RCV001114748]|not provided [RCV004693701]|not specified [RCV004032188] | uncertain significance | 13 | 52029274 | 52029274 | Human | 1 | trait , alternate_id |
