| 405292996 | CV3207155 | single nucleotide variant | NM_145868.2(ANXA11):c.*4G>T | ANXA11-related disorder [RCV003931561] | likely benign | 10 | 80155849 | 80155849 | Human | | name , trait , alternate_id |
| 402506423 | CV3039157 | single nucleotide variant | NM_145868.2(ANXA11):c.55+8G>A | not provided [RCV003715244] | likely benign | 10 | 80172799 | 80172799 | Human | | name |
| 408373470 | CV3515871 | single nucleotide variant | NM_145868.2(ANXA11):c.55+5G>C | ANXA11-related disorder [RCV004744980] | likely benign | 10 | 80172802 | 80172802 | Human | | name , trait , alternate_id |
| 150510628 | CV1211801 | single nucleotide variant | NM_145868.2(ANXA11):c.55+54G>A | Inclusion body myopathy and brain white matter abnormalities [RCV002260213]|not provided [RCV001597697] | benign | 10 | 80172753 | 80172753 | Human | 1 | name |
| 150451969 | CV1220932 | single nucleotide variant | NM_145868.2(ANXA11):c.-8-55G>A | Inclusion body myopathy and brain white matter abnormalities [RCV002260230]|not provided [RCV001612026] | benign | 10 | 80172924 | 80172924 | Human | 1 | name |
| 151717553 | CV1334977 | single nucleotide variant | NM_145868.2(ANXA11):c.744+3G>A | Amyotrophic lateral sclerosis [RCV001843935]|not provided [RCV002543290] | uncertain significance | 10 | 80166887 | 80166887 | Human | 2 | name |
| 152111487 | CV1537172 | single nucleotide variant | NM_145868.2(ANXA11):c.171+9A>G | not provided [RCV002215552] | likely benign | 10 | 80170791 | 80170791 | Human | | name |
| 152083430 | CV1576810 | single nucleotide variant | NM_145868.2(ANXA11):c.858+9G>A | not provided [RCV002193321] | likely benign | 10 | 80166075 | 80166075 | Human | | name |
| 152173649 | CV1655690 | single nucleotide variant | NM_145868.2(ANXA11):c.949+8C>T | ANXA11-related disorder [RCV003933665]|not provided [RCV002184246] | likely benign | 10 | 80164045 | 80164045 | Human | 1 | name , trait , alternate_id |
| 156347453 | CV1995361 | single nucleotide variant | NM_145868.2(ANXA11):c.744+2C>T | Amyotrophic lateral sclerosis type 23 [RCV005370265]|not provided [RCV002650645] | uncertain significance | 10 | 80166888 | 80166888 | Human | 1 | name |
| 156360765 | CV2003159 | single nucleotide variant | NM_145868.2(ANXA11):c.744+9C>T | not provided [RCV002676232] | benign | 10 | 80166881 | 80166881 | Human | | name |
| 156171397 | CV2041631 | single nucleotide variant | NM_145868.2(ANXA11):c.650-4C>T | not provided [RCV002741871] | likely benign | 10 | 80166988 | 80166988 | Human | | name |
| 405117867 | CV2949684 | single nucleotide variant | NM_145868.2(ANXA11):c.650-2A>G | not provided [RCV003667119] | uncertain significance | 10 | 80166986 | 80166986 | Human | | name |
| 405230593 | CV3153585 | single nucleotide variant | NM_145868.2(ANXA11):c.55+18G>C | not provided [RCV003848650] | likely benign | 10 | 80172789 | 80172789 | Human | | name |
| 402494198 | CV3182935 | single nucleotide variant | NM_145868.2(ANXA11):c.171+1G>A | not provided [RCV003877243] | uncertain significance | 10 | 80170799 | 80170799 | Human | | name |
| 408378319 | CV3505193 | single nucleotide variant | NM_145868.2(ANXA11):c.950-1G>C | ANXA11-related disorder [RCV004727932]|not provided [RCV005103618] | uncertain significance | 10 | 80163614 | 80163614 | Human | 1 | name , trait , alternate_id |
| 408371884 | CV3508048 | single nucleotide variant | NM_145868.2(ANXA11):c.561+4A>T | ANXA11-related disorder [RCV004741965] | uncertain significance | 10 | 80168965 | 80168965 | Human | | name , trait , alternate_id |
| 597655748 | CV3552280 | single nucleotide variant | NM_145868.2(ANXA11):c.744+1G>A | Amyotrophic lateral sclerosis type 23 [RCV004821138] | pathogenic | 10 | 80166889 | 80166889 | Human | 1 | name |
| 597948160 | CV3771841 | single nucleotide variant | NM_145868.2(ANXA11):c.562-7C>T | not provided [RCV005120367] | benign | 10 | 80167320 | 80167320 | Human | | name |
| 597861671 | CV3813553 | single nucleotide variant | NM_145868.2(ANXA11):c.56-17C>G | not provided [RCV005146815] | likely benign | 10 | 80170932 | 80170932 | Human | | name |
| 597878716 | CV3813724 | single nucleotide variant | NM_145868.2(ANXA11):c.650-8T>G | not provided [RCV005149466] | likely benign | 10 | 80166992 | 80166992 | Human | | name |
| 597947271 | CV3817870 | single nucleotide variant | NM_145868.2(ANXA11):c.55+19G>A | not provided [RCV005160337] | likely benign | 10 | 80172788 | 80172788 | Human | | name |
| 597893928 | CV3833503 | single nucleotide variant | NM_145868.2(ANXA11):c.172-5T>A | not provided [RCV005180195] | uncertain significance | 10 | 80169363 | 80169363 | Human | | name |
| 15187010 | CV730714 | single nucleotide variant | NM_145868.2(ANXA11):c.745-7C>G | ANXA11-related disorder [RCV003940572]|not provided [RCV000887137] | benign|likely benign | 10 | 80166204 | 80166204 | Human | 1 | name , trait , alternate_id |
| 150510624 | CV1211799 | single nucleotide variant | NM_145868.2(ANXA11):c.1181-5C>T | Inclusion body myopathy and brain white matter abnormalities [RCV002260212]|not provided [RCV001597695] | benign | 10 | 80159200 | 80159200 | Human | 1 | name |
| 150473668 | CV1217668 | single nucleotide variant | NM_145868.2(ANXA11):c.950-87C>G | Inclusion body myopathy and brain white matter abnormalities [RCV002260221]|not provided [RCV001615679] | benign | 10 | 80163700 | 80163700 | Human | 1 | name |
| 150438750 | CV1221208 | single nucleotide variant | NM_145868.2(ANXA11):c.-8-165A>G | not provided [RCV001609902] | benign | 10 | 80173034 | 80173034 | Human | | name |
| 150483115 | CV1223536 | single nucleotide variant | NM_145868.2(ANXA11):c.858+55G>A | Inclusion body myopathy and brain white matter abnormalities [RCV002260233]|not provided [RCV001617250] | benign | 10 | 80166029 | 80166029 | Human | 2 | name |
| 150483115 | CV1223536 | single nucleotide variant | NM_145868.2(ANXA11):c.858+55G>A | Inclusion body myopathy and brain white matter abnormalities [RCV002260233]|not provided [RCV001617250] | benign | 10 | 80166029 | 80166030 | Human | 2 | name |
| 150435551 | CV1233885 | single nucleotide variant | NM_145868.2(ANXA11):c.858+42C>T | Inclusion body myopathy and brain white matter abnormalities [RCV002260244]|not provided [RCV001644012] | benign | 10 | 80166042 | 80166042 | Human | 1 | name |
| 150442439 | CV1249117 | single nucleotide variant | NM_145868.2(ANXA11):c.650-10C>G | Inclusion body myopathy and brain white matter abnormalities [RCV002260283]|not provided [RCV001666549] | benign | 10 | 80166994 | 80166994 | Human | 1 | name |
| 150471965 | CV1252170 | single nucleotide variant | NM_145868.2(ANXA11):c.858+47G>A | Inclusion body myopathy and brain white matter abnormalities [RCV002260287]|not provided [RCV001671371] | benign | 10 | 80166037 | 80166037 | Human | 1 | name |
| 150472934 | CV1259381 | single nucleotide variant | NM_145868.2(ANXA11):c.859-60C>G | Inclusion body myopathy and brain white matter abnormalities [RCV002260317]|not provided [RCV001684627] | benign | 10 | 80164203 | 80164203 | Human | 1 | name |
| 150437309 | CV1262284 | single nucleotide variant | NM_145868.2(ANXA11):c.858+45G>A | Inclusion body myopathy and brain white matter abnormalities [RCV002260321]|not provided [RCV001678642] | benign | 10 | 80166039 | 80166039 | Human | 1 | name |
| 150486777 | CV1262630 | duplication | NM_145868.2(ANXA11):c.745-40dup | not provided [RCV001687027] | benign | 10 | 80166226 | 80166227 | Human | | name |
| 150436593 | CV1270981 | single nucleotide variant | NM_145868.2(ANXA11):c.859-62C>T | Inclusion body myopathy and brain white matter abnormalities [RCV002260354]|not provided [RCV001689531] | benign | 10 | 80164205 | 80164205 | Human | 1 | name |
| 150473378 | CV1272160 | deletion | NM_145868.2(ANXA11):c.745-30del | Inclusion body myopathy and brain white matter abnormalities [RCV002260351]|not provided [RCV001695698] | benign | 10 | 80166227 | 80166227 | Human | 1 | name |
| 150449409 | CV1273629 | single nucleotide variant | NM_145868.2(ANXA11):c.171+19C>T | Inclusion body myopathy and brain white matter abnormalities [RCV002260356]|not provided [RCV001691729] | benign | 10 | 80170781 | 80170781 | Human | 1 | name |
| 150477675 | CV1279492 | single nucleotide variant | NM_145868.2(ANXA11):c.171+95A>G | Inclusion body myopathy and brain white matter abnormalities [RCV002260376]|not provided [RCV001714165] | benign | 10 | 80170705 | 80170705 | Human | 1 | name |
| 150492534 | CV1281192 | single nucleotide variant | NM_145868.2(ANXA11):c.55+110G>C | not provided [RCV001716832] | benign | 10 | 80172697 | 80172697 | Human | | name |
| 151810445 | CV1446530 | single nucleotide variant | NM_145868.2(ANXA11):c.1180+5G>A | not provided [RCV002012382] | uncertain significance | 10 | 80161930 | 80161930 | Human | | name |
| 151871322 | CV1477060 | single nucleotide variant | NM_145868.2(ANXA11):c.1086+4A>T | not provided [RCV001906524] | uncertain significance | 10 | 80163345 | 80163345 | Human | | name |
| 152051623 | CV1521510 | single nucleotide variant | NM_145868.2(ANXA11):c.1458+4C>T | not provided [RCV002145759] | benign | 10 | 80157637 | 80157637 | Human | | name |
| 152103213 | CV1524030 | single nucleotide variant | NM_145868.2(ANXA11):c.1087-8C>G | ANXA11-related disorder [RCV003923759]|not provided [RCV002133528] | benign | 10 | 80162036 | 80162036 | Human | 1 | name , trait , alternate_id |
| 152110751 | CV1582015 | single nucleotide variant | NM_145868.2(ANXA11):c.744+20C>A | not provided [RCV002080210] | benign | 10 | 80166870 | 80166870 | Human | 1 | name |
| 152110751 | CV1582015 | single nucleotide variant | NM_145868.2(ANXA11):c.744+20C>A | not provided [RCV002080210] | benign | 10 | 80166870 | 80166871 | Human | 1 | name |
| 152160846 | CV1601822 | single nucleotide variant | NM_145868.2(ANXA11):c.650-19C>G | not provided [RCV002180907] | likely benign | 10 | 80167003 | 80167003 | Human | | name |
| 156402849 | CV1988744 | single nucleotide variant | NM_145868.2(ANXA11):c.1181-4A>G | not provided [RCV002605783] | likely benign | 10 | 80159199 | 80159199 | Human | | name |
| 156192907 | CV1994738 | single nucleotide variant | NM_145868.2(ANXA11):c.561+14C>T | not provided [RCV002643368] | likely benign | 10 | 80168955 | 80168955 | Human | | name |
| 156346257 | CV1995244 | single nucleotide variant | NM_145868.2(ANXA11):c.1181-3T>A | not provided [RCV002650588] | uncertain significance | 10 | 80159198 | 80159198 | Human | | name |
| 156346663 | CV1995288 | single nucleotide variant | NM_145868.2(ANXA11):c.650-12C>T | not provided [RCV002650608] | likely benign | 10 | 80166996 | 80166996 | Human | | name |
| 156306871 | CV1999878 | single nucleotide variant | NM_145868.2(ANXA11):c.561+15A>C | not provided [RCV002671424] | likely benign | 10 | 80168954 | 80168954 | Human | | name |
| 156181849 | CV2001413 | single nucleotide variant | NM_145868.2(ANXA11):c.1335+4T>C | not provided [RCV002643047] | uncertain significance | 10 | 80157963 | 80157963 | Human | | name |
| 155914019 | CV2145142 | single nucleotide variant | NM_145868.2(ANXA11):c.858+15G>T | not provided [RCV002991533] | likely benign | 10 | 80166069 | 80166069 | Human | | name |
| 402522553 | CV2900143 | single nucleotide variant | NM_145868.2(ANXA11):c.1458+7G>A | ANXA11-related disorder [RCV004741640]|not provided [RCV003575972] | likely benign | 10 | 80157634 | 80157634 | Human | 1 | name , trait , alternate_id |
| 402512943 | CV2991351 | single nucleotide variant | NM_145868.2(ANXA11):c.171+13C>G | not provided [RCV003689702] | likely benign | 10 | 80170787 | 80170787 | Human | | name |
| 405042963 | CV3007716 | single nucleotide variant | NM_145868.2(ANXA11):c.650-16C>G | not provided [RCV003696463] | likely benign | 10 | 80167000 | 80167000 | Human | | name |
| 405121918 | CV3024683 | single nucleotide variant | NM_145868.2(ANXA11):c.172-15T>C | not provided [RCV003700848] | likely benign | 10 | 80169373 | 80169373 | Human | | name |
| 405229312 | CV3075539 | single nucleotide variant | NM_145868.2(ANXA11):c.1087-1G>A | not provided [RCV003734617] | uncertain significance | 10 | 80162029 | 80162029 | Human | | name |
| 405121836 | CV3116643 | duplication | NM_145868.2(ANXA11):c.1181-9dup | not provided [RCV003814945] | likely benign | 10 | 80159203 | 80159204 | Human | | name |
| 405138775 | CV3130826 | single nucleotide variant | NM_145868.2(ANXA11):c.1458+5G>A | not provided [RCV003839060] | uncertain significance | 10 | 80157636 | 80157636 | Human | | name |
| 405049449 | CV3150847 | single nucleotide variant | NM_145868.2(ANXA11):c.562-17A>G | not provided [RCV003849451] | likely benign | 10 | 80167330 | 80167330 | Human | | name |
| 405178181 | CV3151068 | single nucleotide variant | NM_145868.2(ANXA11):c.1335+6T>C | not provided [RCV003842152] | uncertain significance | 10 | 80157961 | 80157961 | Human | | name |
| 405167671 | CV3156853 | single nucleotide variant | NM_145868.2(ANXA11):c.649+11C>A | not provided [RCV003857557] | likely benign | 10 | 80167215 | 80167215 | Human | | name |
| 405080306 | CV3166715 | single nucleotide variant | NM_145868.2(ANXA11):c.1180+7C>T | not provided [RCV003851489] | likely benign | 10 | 80161928 | 80161928 | Human | | name |
| 402475889 | CV3173648 | single nucleotide variant | NM_145868.2(ANXA11):c.744+15G>T | not provided [RCV003875186] | likely benign | 10 | 80166875 | 80166875 | Human | | name |
| 405287190 | CV3217286 | single nucleotide variant | NM_145868.2(ANXA11):c.744+10G>A | ANXA11-related disorder [RCV003981822]|not provided [RCV005103091] | likely benign | 10 | 80166880 | 80166880 | Human | 1 | name , trait , alternate_id |
| 597962629 | CV3809220 | single nucleotide variant | NM_145868.2(ANXA11):c.1086+2T>C | not provided [RCV005164122] | uncertain significance | 10 | 80163347 | 80163347 | Human | | name |
| 597892274 | CV3822879 | single nucleotide variant | NM_145868.2(ANXA11):c.1459-3C>T | not provided [RCV005179955] | uncertain significance | 10 | 80155915 | 80155915 | Human | | name |
| 597832085 | CV3830902 | single nucleotide variant | NM_145868.2(ANXA11):c.858+19G>A | not provided [RCV005170300] | likely benign | 10 | 80166065 | 80166065 | Human | | name |
| 597959961 | CV3843508 | single nucleotide variant | NM_145868.2(ANXA11):c.1030-3C>G | not provided [RCV005192545] | uncertain significance | 10 | 80163408 | 80163408 | Human | | name |
| 150507994 | CV1227026 | single nucleotide variant | NM_145868.2(ANXA11):c.859-156T>C | not provided [RCV001636099] | benign | 10 | 80164299 | 80164299 | Human | | name |
| 150515110 | CV1228734 | single nucleotide variant | NM_145868.2(ANXA11):c.744+108G>A | not provided [RCV001638723] | benign | 10 | 80166782 | 80166782 | Human | | name |
| 150454634 | CV1232310 | single nucleotide variant | NM_145868.2(ANXA11):c.1335+15T>C | Inclusion body myopathy and brain white matter abnormalities [RCV002260252]|not provided [RCV001648323] | benign | 10 | 80157952 | 80157952 | Human | 1 | name |
| 150512159 | CV1242893 | single nucleotide variant | NM_145868.2(ANXA11):c.1030-44A>C | Inclusion body myopathy and brain white matter abnormalities [RCV002260266]|not provided [RCV001661247] | benign | 10 | 80163449 | 80163449 | Human | 1 | name |
| 150452985 | CV1255033 | single nucleotide variant | NM_145868.2(ANXA11):c.1276+80G>T | Inclusion body myopathy and brain white matter abnormalities [RCV002260296]|not provided [RCV001668092] | benign | 10 | 80159020 | 80159020 | Human | 1 | name |
| 150493541 | CV1257576 | single nucleotide variant | NM_145868.2(ANXA11):c.171+114G>T | not provided [RCV001675249] | benign | 10 | 80170686 | 80170686 | Human | | name |
| 150441444 | CV1265557 | single nucleotide variant | NM_145868.2(ANXA11):c.745-218T>C | not provided [RCV001679261] | benign | 10 | 80166415 | 80166415 | Human | | name |
| 150443510 | CV1266406 | single nucleotide variant | NM_145868.2(ANXA11):c.562-150G>A | not provided [RCV001690842] | benign | 10 | 80167463 | 80167463 | Human | | name |
| 150508842 | CV1284384 | single nucleotide variant | NM_145868.2(ANXA11):c.1087-26A>G | Inclusion body myopathy and brain white matter abnormalities [RCV002260393]|not provided [RCV001720492] | benign | 10 | 80162054 | 80162054 | Human | 1 | name |
| 152061945 | CV1559410 | single nucleotide variant | NM_145868.2(ANXA11):c.1030-15C>T | not provided [RCV002168103] | likely benign | 10 | 80163420 | 80163420 | Human | | name |
| 152032937 | CV1610245 | single nucleotide variant | NM_145868.2(ANXA11):c.1335+17T>G | not provided [RCV002124844] | benign | 10 | 80157950 | 80157950 | Human | | name |
| 152103719 | CV1645344 | single nucleotide variant | NM_145868.2(ANXA11):c.1087-18G>A | not provided [RCV002133586] | likely benign | 10 | 80162046 | 80162046 | Human | | name |
| 152145270 | CV1661558 | single nucleotide variant | NM_145868.2(ANXA11):c.1336-20C>T | not provided [RCV002157333] | likely benign | 10 | 80157783 | 80157783 | Human | | name |
| 153000727 | CV1685606 | single nucleotide variant | NM_145868.2(ANXA11):c.1458+77C>T | Inclusion body myopathy and brain white matter abnormalities [RCV002260424] | benign | 10 | 80157564 | 80157564 | Human | 1 | name |
| 153000729 | CV1685607 | single nucleotide variant | NM_145868.2(ANXA11):c.1335+94A>G | Inclusion body myopathy and brain white matter abnormalities [RCV002260425] | benign | 10 | 80157873 | 80157873 | Human | 1 | name |
| 156130000 | CV2002058 | single nucleotide variant | NM_145868.2(ANXA11):c.1086+20C>A | not provided [RCV002663184] | likely benign | 10 | 80163329 | 80163329 | Human | | name |
| 156331247 | CV2004424 | single nucleotide variant | NM_145868.2(ANXA11):c.1030-17C>T | not provided [RCV002649830] | likely benign | 10 | 80163422 | 80163422 | Human | | name |
| 155957585 | CV2033512 | single nucleotide variant | NM_145868.2(ANXA11):c.1029+14G>A | not provided [RCV002731010] | likely benign | 10 | 80163520 | 80163520 | Human | | name |
| 156085937 | CV2034059 | single nucleotide variant | NM_145868.2(ANXA11):c.1180+11C>T | not provided [RCV002760777] | likely benign|uncertain significance | 10 | 80161924 | 80161924 | Human | | name |
| 405038348 | CV2932907 | single nucleotide variant | NM_145868.2(ANXA11):c.1029+12A>G | not provided [RCV003578812] | likely benign | 10 | 80163522 | 80163522 | Human | | name |
| 405212641 | CV3142696 | single nucleotide variant | NM_145868.2(ANXA11):c.1459-18C>T | not provided [RCV003846053] | likely benign | 10 | 80155930 | 80155930 | Human | | name |
| 405161513 | CV3159955 | single nucleotide variant | NM_145868.2(ANXA11):c.1277-18C>T | not provided [RCV003857026] | likely benign | 10 | 80158043 | 80158043 | Human | | name |
| 597883790 | CV3834819 | single nucleotide variant | NM_145868.2(ANXA11):c.1030-14C>T | not provided [RCV005178542] | likely benign | 10 | 80163419 | 80163419 | Human | | name |
| 150517299 | CV1226747 | single nucleotide variant | NM_145868.2(ANXA11):c.1277-176A>G | not provided [RCV001639841] | benign | 10 | 80158201 | 80158201 | Human | | name |
| 150512203 | CV1228449 | deletion | NM_145868.2(ANXA11):c.1086+165del | not provided [RCV001637581] | benign | 10 | 80163184 | 80163184 | Human | | name |
| 150435351 | CV1233838 | microsatellite | NM_145868.2(ANXA11):c.858+42CG[2] | Inclusion body myopathy and brain white matter abnormalities [RCV002260243]|not provided [RCV001643965] | benign | 10 | 80166037 | 80166038 | Human | | name |
| 150478333 | CV1240175 | single nucleotide variant | NM_145868.2(ANXA11):c.1459-122A>G | not provided [RCV001652353] | benign | 10 | 80156034 | 80156034 | Human | | name |
| 150470586 | CV1258614 | single nucleotide variant | NM_145868.2(ANXA11):c.1180+138A>G | not provided [RCV001684159] | benign | 10 | 80161797 | 80161797 | Human | | name |
| 150447645 | CV1261848 | single nucleotide variant | NM_145868.2(ANXA11):c.1086+134C>T | not provided [RCV001680232] | benign | 10 | 80163215 | 80163215 | Human | | name |
| 150446243 | CV1271841 | single nucleotide variant | NM_145868.2(ANXA11):c.1087-134A>G | not provided [RCV001691255] | benign | 10 | 80162162 | 80162162 | Human | | name |
| 597906314 | CV3804031 | deletion | NM_145868.2(ANXA11):c.561+4_561+7del | not provided [RCV005153577] | uncertain significance | 10 | 80168962 | 80168965 | Human | | name |
| 408372031 | CV3517838 | deletion | NM_145868.2(ANXA11):c.562-12_562-9del | ANXA11-related disorder [RCV004742169] | likely benign | 10 | 80167322 | 80167325 | Human | | name , trait , alternate_id |
| 150504127 | CV1212620 | deletion | NM_145868.2(ANXA11):c.858+30_858+43del | not provided [RCV001595495] | benign | 10 | 80166041 | 80166054 | Human | | name |
| 150474368 | CV1234439 | deletion | NM_145868.2(ANXA11):c.858+34_858+43del | not provided [RCV001651759] | benign | 10 | 80166041 | 80166050 | Human | | name |
| 150468274 | CV1267913 | deletion | NM_145868.2(ANXA11):c.858+32_858+43del | not provided [RCV001694776] | benign | 10 | 80166041 | 80166052 | Human | | name |
| 151761987 | CV1455964 | single nucleotide variant | NM_145868.2(ANXA11):c.6C>G (p.Ser2Arg) | not provided [RCV002044388] | uncertain significance | 10 | 80172856 | 80172856 | Human | | name |
| 152057925 | CV1656606 | single nucleotide variant | NM_145868.2(ANXA11):c.93G>A (p.Pro31=) | ANXA11-related disorder [RCV003970891]|not provided [RCV002109771] | likely benign | 10 | 80170878 | 80170878 | Human | 1 | name , trait , alternate_id |
| 401907685 | CV2800198 | single nucleotide variant | NM_145868.2(ANXA11):c.3G>A (p.Met1Ile) | ANXA11-related disorder [RCV003397333]|not provided [RCV005104289] | uncertain significance | 10 | 80172859 | 80172859 | Human | 1 | name , trait , alternate_id |
| 405294596 | CV3204109 | duplication | NM_145868.2(ANXA11):c.-1dup (p.Met1fs) | ANXA11-related disorder [RCV003934543] | likely benign | 10 | 80172861 | 80172862 | Human | | name , trait , alternate_id |
| 151832914 | CV1475328 | deletion | NM_145868.2(ANXA11):c.24del (p.Pro10fs) | not provided [RCV001993887] | uncertain significance | 10 | 80172838 | 80172838 | Human | | name |
| 152141877 | CV1629014 | single nucleotide variant | NM_145868.2(ANXA11):c.23C>T (p.Pro8Leu) | ANXA11-related disorder [RCV003933394]|not provided [RCV002100888] | benign | 10 | 80172839 | 80172839 | Human | 1 | name , trait , alternate_id |
| 152092003 | CV1631726 | single nucleotide variant | NM_145868.2(ANXA11):c.264C>T (p.Gly88=) | ANXA11-related disorder [RCV003951108]|not provided [RCV002132159] | benign|likely benign | 10 | 80169266 | 80169266 | Human | 1 | name , trait , alternate_id |
| 152172261 | CV1650644 | single nucleotide variant | NM_145868.2(ANXA11):c.174G>A (p.Ala58=) | ANXA11-related disorder [RCV003968727]|not provided [RCV002162393] | likely benign | 10 | 80169356 | 80169356 | Human | 1 | name , trait , alternate_id |
| 156390979 | CV1869935 | single nucleotide variant | NM_145868.2(ANXA11):c.174G>C (p.Ala58=) | not provided [RCV003068016] | likely benign | 10 | 80169356 | 80169356 | Human | | name |
| 156221756 | CV1899840 | single nucleotide variant | NM_145868.2(ANXA11):c.111C>T (p.Ile37=) | not provided [RCV003085025] | likely benign | 10 | 80170860 | 80170860 | Human | | name |
| 156403248 | CV1908576 | single nucleotide variant | NM_145868.2(ANXA11):c.222C>T (p.Tyr74=) | ANXA11-related disorder [RCV004744593]|not provided [RCV002605860] | likely benign | 10 | 80169308 | 80169308 | Human | 1 | name , trait , alternate_id |
| 156351011 | CV2122274 | single nucleotide variant | NM_145868.2(ANXA11):c.123C>T (p.Asn41=) | ANXA11-related disorder [RCV004744499]|not provided [RCV002966296] | likely benign | 10 | 80170848 | 80170848 | Human | 1 | name , trait , alternate_id |
| 402504053 | CV2947419 | single nucleotide variant | NM_145868.2(ANXA11):c.246C>T (p.Tyr82=) | not provided [RCV003661896] | likely benign | 10 | 80169284 | 80169284 | Human | | name |
| 597939013 | CV3756750 | single nucleotide variant | NM_145868.2(ANXA11):c.135T>C (p.Tyr45=) | not provided [RCV005077131] | likely benign | 10 | 80170836 | 80170836 | Human | | name |
| 597976387 | CV3829615 | single nucleotide variant | NM_145868.2(ANXA11):c.279C>T (p.Pro93=) | not provided [RCV005169882] | likely benign | 10 | 80169251 | 80169251 | Human | | name |
| 126736818 | CV1017330 | duplication | NM_145868.2(ANXA11):c.282dup (p.Ser95fs) | ANXA11-related disorder [RCV003911069]|not provided [RCV001871242] | pathogenic|uncertain significance | 10 | 80169247 | 80169248 | Human | 1 | name , trait , alternate_id |
| 150470477 | CV1248000 | single nucleotide variant | NM_145868.2(ANXA11):c.390C>T (p.Gly130=) | Inclusion body myopathy and brain white matter abnormalities [RCV002260280]|not provided [RCV001671036] | benign | 10 | 80169140 | 80169140 | Human | 1 | name |
| 150508838 | CV1284383 | single nucleotide variant | NM_145868.2(ANXA11):c.672T>C (p.Ile224=) | Inclusion body myopathy and brain white matter abnormalities [RCV002260392]|not provided [RCV001720491] | benign | 10 | 80166962 | 80166962 | Human | 1 | name |
| 151721852 | CV1389072 | single nucleotide variant | NM_145868.2(ANXA11):c.654G>A (p.Thr218=) | ANXA11-related disorder [RCV003948866]|not provided [RCV002040200] | likely benign|uncertain significance | 10 | 80166980 | 80166980 | Human | 1 | name , trait , alternate_id |
| 152167088 | CV1524553 | single nucleotide variant | NM_145868.2(ANXA11):c.474G>T (p.Val158=) | not provided [RCV002142070] | benign | 10 | 80169056 | 80169056 | Human | | name |
| 152136255 | CV1560595 | single nucleotide variant | NM_145868.2(ANXA11):c.774G>A (p.Leu258=) | not provided [RCV002137581] | likely benign | 10 | 80166168 | 80166168 | Human | | name |
| 152088323 | CV1562905 | single nucleotide variant | NM_145868.2(ANXA11):c.303T>C (p.Pro101=) | ANXA11-related disorder [RCV003933542]|not provided [RCV002113724] | benign | 10 | 80169227 | 80169227 | Human | 1 | name , trait , alternate_id |
| 152104497 | CV1570234 | single nucleotide variant | NM_145868.2(ANXA11):c.408C>T (p.Pro136=) | not provided [RCV002195974] | benign | 10 | 80169122 | 80169122 | Human | | name |
| 152166772 | CV1597206 | single nucleotide variant | NM_145868.2(ANXA11):c.795A>G (p.Thr265=) | ANXA11-related disorder [RCV003971191]|not provided [RCV002204514] | likely benign | 10 | 80166147 | 80166147 | Human | 1 | name , trait , alternate_id |
| 152097812 | CV1611600 | single nucleotide variant | NM_145868.2(ANXA11):c.618C>T (p.Ala206=) | ANXA11-related disorder [RCV004744233]|not provided [RCV002172702] | benign|likely benign | 10 | 80167257 | 80167257 | Human | 1 | name , trait , alternate_id |
| 152034955 | CV1639623 | single nucleotide variant | NM_145868.2(ANXA11):c.531G>A (p.Gly177=) | not provided [RCV002187341] | benign | 10 | 80168999 | 80168999 | Human | | name |
| 152120339 | CV1657457 | single nucleotide variant | NM_145868.2(ANXA11):c.984C>T (p.Ser328=) | not provided [RCV002216688] | likely benign | 10 | 80163579 | 80163579 | Human | | name |
| 152113154 | CV1659402 | single nucleotide variant | NM_145868.2(ANXA11):c.456C>T (p.Tyr152=) | Inclusion body myopathy and brain white matter abnormalities [RCV002260410]|not provided [RCV002080527] | benign|likely benign | 10 | 80169074 | 80169074 | Human | 1 | name |
| 156413601 | CV1901007 | single nucleotide variant | NM_145868.2(ANXA11):c.450G>A (p.Val150=) | not provided [RCV002588213] | likely benign | 10 | 80169080 | 80169080 | Human | | name |
| 156193103 | CV1904300 | single nucleotide variant | NM_145868.2(ANXA11):c.732G>T (p.Thr244=) | not provided [RCV002574477] | likely benign | 10 | 80166902 | 80166902 | Human | | name |
| 155985150 | CV1979554 | single nucleotide variant | NM_145868.2(ANXA11):c.504G>A (p.Pro168=) | ANXA11-related disorder [RCV003926423]|not provided [RCV002617775] | likely benign | 10 | 80169026 | 80169026 | Human | 1 | name , trait , alternate_id |
| 156219186 | CV1995645 | single nucleotide variant | NM_145868.2(ANXA11):c.897C>T (p.Leu299=) | not provided [RCV002667160] | likely benign | 10 | 80164105 | 80164105 | Human | | name |
| 156125832 | CV2012382 | single nucleotide variant | NM_145868.2(ANXA11):c.969A>G (p.Glu323=) | not provided [RCV002696216] | likely benign | 10 | 80163594 | 80163594 | Human | | name |
| 156276577 | CV2015057 | single nucleotide variant | NM_145868.2(ANXA11):c.585T>C (p.Thr195=) | not provided [RCV002715158] | likely benign | 10 | 80167290 | 80167290 | Human | | name |
| 156037799 | CV2030102 | deletion | NM_145868.2(ANXA11):c.1030-22_1030-20del | not provided [RCV002736066] | likely benign | 10 | 80163425 | 80163427 | Human | | name |
| 156294967 | CV2065262 | single nucleotide variant | NM_145868.2(ANXA11):c.522G>A (p.Pro174=) | not provided [RCV002856902] | likely benign | 10 | 80169008 | 80169008 | Human | | name |
| 156030423 | CV2105550 | single nucleotide variant | NM_145868.2(ANXA11):c.363G>A (p.Pro121=) | not provided [RCV002910042] | likely benign | 10 | 80169167 | 80169167 | Human | | name |
| 156159533 | CV2118591 | single nucleotide variant | NM_145868.2(ANXA11):c.738C>T (p.Tyr246=) | not provided [RCV002929191] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 80166896 | 80166896 | Human | | name |
| 156030691 | CV2141995 | single nucleotide variant | NM_145868.2(ANXA11):c.74G>A (p.Gly25Asp) | Inborn genetic diseases [RCV003170792]|not provided [RCV002976590] | uncertain significance | 10 | 80170897 | 80170897 | Human | 1 | name |
| 156010740 | CV2362162 | single nucleotide variant | NM_145868.2(ANXA11):c.89C>G (p.Pro30Arg) | Inborn genetic diseases [RCV002997795]|not provided [RCV003561150] | uncertain significance | 10 | 80170882 | 80170882 | Human | 1 | name |
| 401766382 | CV2725473 | single nucleotide variant | NM_145868.2(ANXA11):c.67T>C (p.Trp23Arg) | Inborn genetic diseases [RCV003282539] | uncertain significance | 10 | 80170904 | 80170904 | Human | 1 | name |
| 402494711 | CV2978522 | single nucleotide variant | NM_145868.2(ANXA11):c.378C>T (p.Ala126=) | not provided [RCV003714131] | likely benign | 10 | 80169152 | 80169152 | Human | | name |
| 405128705 | CV3014090 | single nucleotide variant | NM_145868.2(ANXA11):c.594C>T (p.Pro198=) | not provided [RCV003701473] | likely benign | 10 | 80167281 | 80167281 | Human | | name |
| 405196098 | CV3037661 | single nucleotide variant | NM_145868.2(ANXA11):c.732G>A (p.Thr244=) | not provided [RCV003706928] | likely benign | 10 | 80166902 | 80166902 | Human | | name |
| 405213895 | CV3142796 | single nucleotide variant | NM_145868.2(ANXA11):c.972G>A (p.Glu324=) | not provided [RCV003846154] | likely benign | 10 | 80163591 | 80163591 | Human | | name |
| 402473110 | CV3172107 | single nucleotide variant | NM_145868.2(ANXA11):c.906C>T (p.Arg302=) | not provided [RCV003874710] | likely benign | 10 | 80164096 | 80164096 | Human | | name |
| 402493563 | CV3182593 | single nucleotide variant | NM_145868.2(ANXA11):c.990A>T (p.Thr330=) | not provided [RCV003877080] | likely benign | 10 | 80163573 | 80163573 | Human | | name |
| 408382279 | CV3504390 | single nucleotide variant | NM_145868.2(ANXA11):c.387G>A (p.Pro129=) | ANXA11-related disorder [RCV004729734]|not provided [RCV005103631] | likely benign | 10 | 80169143 | 80169143 | Human | 1 | name , trait , alternate_id |
| 408372795 | CV3512851 | single nucleotide variant | NM_145868.2(ANXA11):c.993A>G (p.Ser331=) | ANXA11-related disorder [RCV004743929] | likely benign | 10 | 80163570 | 80163570 | Human | | name , trait , alternate_id |
| 408372052 | CV3517995 | single nucleotide variant | NM_145868.2(ANXA11):c.867C>T (p.Gly289=) | ANXA11-related disorder [RCV004742191] | likely benign | 10 | 80164135 | 80164135 | Human | | name , trait , alternate_id |
| 597971377 | CV3750710 | single nucleotide variant | NM_145868.2(ANXA11):c.600T>C (p.Phe200=) | not provided [RCV005084454] | likely benign | 10 | 80167275 | 80167275 | Human | | name |
| 597831160 | CV3750834 | single nucleotide variant | NM_145868.2(ANXA11):c.648C>T (p.Phe216=) | not provided [RCV005084578] | uncertain significance | 10 | 80167227 | 80167227 | Human | | name |
| 597836822 | CV3761395 | single nucleotide variant | NM_145868.2(ANXA11):c.885G>T (p.Leu295=) | not provided [RCV005085766] | likely benign | 10 | 80164117 | 80164117 | Human | | name |
| 597933787 | CV3776953 | single nucleotide variant | NM_145868.2(ANXA11):c.411A>G (p.Gly137=) | not provided [RCV005117112] | likely benign | 10 | 80169119 | 80169119 | Human | | name |
| 597884158 | CV3780543 | single nucleotide variant | NM_145868.2(ANXA11):c.52C>T (p.Pro18Ser) | not provided [RCV005124671] | uncertain significance | 10 | 80172810 | 80172810 | Human | | name |
| 597899171 | CV3826737 | deletion | NM_145868.2(ANXA11):c.1459-18_1459-15del | not provided [RCV005180870] | likely benign | 10 | 80155927 | 80155930 | Human | | name |
| 151783028 | CV1347517 | duplication | NM_145868.2(ANXA11):c.408dup (p.Gly137fs) | not provided [RCV002046343] | uncertain significance | 10 | 80169121 | 80169122 | Human | | name |
| 151878001 | CV1350245 | single nucleotide variant | NM_145868.2(ANXA11):c.102G>A (p.Met34Ile) | not provided [RCV002036492] | uncertain significance | 10 | 80170869 | 80170869 | Human | | name |
| 151744114 | CV1408627 | single nucleotide variant | NM_145868.2(ANXA11):c.158A>G (p.Tyr53Cys) | ANXA11-related disorder [RCV003893067]|Inborn genetic diseases [RCV004045978]|not provided [RCV002042539] | uncertain significance | 10 | 80170813 | 80170813 | Human | 2 | name , trait , alternate_id |
| 151715808 | CV1441725 | single nucleotide variant | NM_145868.2(ANXA11):c.113G>A (p.Gly38Glu) | Inborn genetic diseases [RCV002579570]|not provided [RCV002002905] | uncertain significance | 10 | 80170858 | 80170858 | Human | 1 | name |
| 151833088 | CV1446558 | single nucleotide variant | NM_145868.2(ANXA11):c.160C>T (p.Leu54Phe) | not provided [RCV002030996] | uncertain significance | 10 | 80170811 | 80170811 | Human | | name |
| 151828195 | CV1468424 | single nucleotide variant | NM_145868.2(ANXA11):c.124G>A (p.Val42Met) | ANXA11-related disorder [RCV003911143]|not provided [RCV002030539] | uncertain significance | 10 | 80170847 | 80170847 | Human | 1 | name , trait , alternate_id |
| 151891184 | CV1473356 | single nucleotide variant | NM_145868.2(ANXA11):c.107C>A (p.Pro36His) | not provided [RCV001888629] | uncertain significance | 10 | 80170864 | 80170864 | Human | | name |
| 152094825 | CV1520977 | single nucleotide variant | NM_145868.2(ANXA11):c.1425G>A (p.Arg475=) | not provided [RCV002078196] | likely benign | 10 | 80157674 | 80157674 | Human | | name |
| 152167122 | CV1524564 | single nucleotide variant | NM_145868.2(ANXA11):c.1068C>T (p.Leu356=) | not provided [RCV002142080] | benign | 10 | 80163367 | 80163367 | Human | | name |
| 152101477 | CV1540208 | single nucleotide variant | NM_145868.2(ANXA11):c.1131C>G (p.Ser377=) | not provided [RCV002095590] | likely benign | 10 | 80161984 | 80161984 | Human | | name |
| 152072502 | CV1551653 | single nucleotide variant | NM_145868.2(ANXA11):c.1143G>A (p.Ala381=) | not provided [RCV002075294] | likely benign | 10 | 80161972 | 80161972 | Human | | name |
| 152117170 | CV1553638 | single nucleotide variant | NM_145868.2(ANXA11):c.1311G>A (p.Ala437=) | ANXA11-related disorder [RCV003893234]|not provided [RCV002081051] | benign|likely benign | 10 | 80157991 | 80157991 | Human | 1 | name , trait , alternate_id |
| 152138369 | CV1563519 | single nucleotide variant | NM_145868.2(ANXA11):c.1167C>T (p.Ala389=) | not provided [RCV002200257] | likely benign | 10 | 80161948 | 80161948 | Human | | name |
| 152079396 | CV1579856 | single nucleotide variant | NM_145868.2(ANXA11):c.1252C>T (p.Leu418=) | ANXA11-related disorder [RCV003933513]|not provided [RCV002076168] | benign|likely benign | 10 | 80159124 | 80159124 | Human | 1 | name , trait , alternate_id |
| 152054322 | CV1609978 | single nucleotide variant | NM_145868.2(ANXA11):c.1164G>A (p.Arg388=) | not provided [RCV002167247] | likely benign | 10 | 80161951 | 80161951 | Human | | name |
| 152034535 | CV1610610 | single nucleotide variant | NM_145868.2(ANXA11):c.191C>T (p.Thr64Ile) | ANXA11-related disorder [RCV003978742]|not provided [RCV002125112] | benign | 10 | 80169339 | 80169339 | Human | 1 | name , trait , alternate_id |
| 152142242 | CV1629078 | single nucleotide variant | NM_145868.2(ANXA11):c.265G>A (p.Gly89Ser) | ANXA11-related disorder [RCV003903336]|not provided [RCV002100934] | benign|likely benign | 10 | 80169265 | 80169265 | Human | 1 | name , trait , alternate_id |
| 152034929 | CV1639612 | single nucleotide variant | NM_145868.2(ANXA11):c.1224G>A (p.Lys408=) | not provided [RCV002187337] | benign | 10 | 80159152 | 80159152 | Human | | name |
| 155265998 | CV1704875 | deletion | NM_145868.2(ANXA11):c.607del (p.Leu203fs) | Amyotrophic lateral sclerosis type 23 [RCV002285120] | uncertain significance | 10 | 80167268 | 80167268 | Human | 1 | name |
| 155968845 | CV1888789 | single nucleotide variant | NM_145868.2(ANXA11):c.1245C>T (p.Ser415=) | not provided [RCV003075075] | likely benign | 10 | 80159131 | 80159131 | Human | | name |
| 156057687 | CV1892162 | single nucleotide variant | NM_145868.2(ANXA11):c.259C>A (p.Pro87Thr) | not provided [RCV003079107] | uncertain significance | 10 | 80169271 | 80169271 | Human | | name |
| 156280757 | CV1922502 | single nucleotide variant | NM_145868.2(ANXA11):c.1098G>A (p.Ala366=) | not provided [RCV002628422] | likely benign | 10 | 80162017 | 80162017 | Human | | name |
| 156444341 | CV1938199 | single nucleotide variant | NM_145868.2(ANXA11):c.1005G>A (p.Gln335=) | not provided [RCV003115265] | likely benign|uncertain significance | 10 | 80163558 | 80163558 | Human | | name |
| 156398978 | CV1984739 | single nucleotide variant | NM_145868.2(ANXA11):c.1449C>T (p.His483=) | not provided [RCV002605419] | likely benign | 10 | 80157650 | 80157650 | Human | | name |
| 156314772 | CV2017915 | single nucleotide variant | NM_145868.2(ANXA11):c.1092G>A (p.Leu364=) | not provided [RCV002671839] | likely benign | 10 | 80162023 | 80162023 | Human | | name |
| 156311678 | CV2031604 | single nucleotide variant | NM_145868.2(ANXA11):c.1443G>A (p.Leu481=) | not provided [RCV002716575] | likely benign | 10 | 80157656 | 80157656 | Human | | name |
| 156205154 | CV2034915 | single nucleotide variant | NM_145868.2(ANXA11):c.1218T>C (p.Ile406=) | not provided [RCV002766389] | likely benign | 10 | 80159158 | 80159158 | Human | | name |
| 156126075 | CV2036320 | single nucleotide variant | NM_145868.2(ANXA11):c.1119A>G (p.Gly373=) | not provided [RCV002785982] | likely benign | 10 | 80161996 | 80161996 | Human | | name |
| 156163695 | CV2045021 | single nucleotide variant | NM_145868.2(ANXA11):c.1098G>T (p.Ala366=) | not provided [RCV002741637] | likely benign | 10 | 80162017 | 80162017 | Human | | name |
| 156288601 | CV2068681 | single nucleotide variant | NM_145868.2(ANXA11):c.164C>T (p.Ser55Leu) | Inborn genetic diseases [RCV002835068]|not provided [RCV002856656] | uncertain significance | 10 | 80170807 | 80170807 | Human | 1 | name |
| 156208269 | CV2076823 | single nucleotide variant | NM_145868.2(ANXA11):c.289C>T (p.Gln97Ter) | not provided [RCV002852725] | uncertain significance | 10 | 80169241 | 80169241 | Human | | name |
| 156034289 | CV2112638 | single nucleotide variant | NM_145868.2(ANXA11):c.1302C>G (p.Ala434=) | not provided [RCV002910203] | benign | 10 | 80158000 | 80158000 | Human | | name |
| 155924864 | CV2144976 | single nucleotide variant | NM_145868.2(ANXA11):c.1095T>C (p.Tyr365=) | not provided [RCV003013357] | likely benign | 10 | 80162020 | 80162020 | Human | | name |
| 156017259 | CV2177607 | single nucleotide variant | NM_145868.2(ANXA11):c.155A>G (p.Asp52Gly) | not provided [RCV003035548] | uncertain significance | 10 | 80170816 | 80170816 | Human | | name |
| 156397459 | CV2200535 | single nucleotide variant | NM_145868.2(ANXA11):c.190A>G (p.Thr64Ala) | ANXA11-related disorder [RCV003427587]|Inborn genetic diseases [RCV002655131]|not provided [RCV003546863] | uncertain significance | 10 | 80169340 | 80169340 | Human | 2 | name , trait , alternate_id |
| 155967992 | CV2265834 | single nucleotide variant | NM_145868.2(ANXA11):c.100A>C (p.Met34Leu) | Inborn genetic diseases [RCV002817444] | uncertain significance | 10 | 80170871 | 80170871 | Human | 1 | name |
| 156145338 | CV2358731 | single nucleotide variant | NM_145868.2(ANXA11):c.130A>G (p.Thr44Ala) | Inborn genetic diseases [RCV003004215]|not provided [RCV005099019] | uncertain significance | 10 | 80170841 | 80170841 | Human | 1 | name |
| 401740265 | CV2684312 | single nucleotide variant | NM_145868.2(ANXA11):c.173C>T (p.Ala58Val) | ANXA11-related disorder [RCV004741581]|Inborn genetic diseases [RCV003240617] | uncertain significance | 10 | 80169357 | 80169357 | Human | 2 | name , trait , alternate_id |
| 401912237 | CV2796094 | single nucleotide variant | NM_145868.2(ANXA11):c.100A>G (p.Met34Val) | ANXA11-related disorder [RCV003399790]|Inborn genetic diseases [RCV005377360] | uncertain significance | 10 | 80170871 | 80170871 | Human | 2 | name , trait , alternate_id |
| 405189463 | CV2968430 | single nucleotide variant | NM_145868.2(ANXA11):c.1149G>T (p.Leu383=) | not provided [RCV003677068] | likely benign | 10 | 80161966 | 80161966 | Human | | name |
| 405241836 | CV2970895 | single nucleotide variant | NM_145868.2(ANXA11):c.149A>G (p.Asn50Ser) | not provided [RCV003684209] | uncertain significance | 10 | 80170822 | 80170822 | Human | | name |
| 405233901 | CV2981932 | single nucleotide variant | NM_145868.2(ANXA11):c.1311G>C (p.Ala437=) | not provided [RCV003711971] | likely benign | 10 | 80157991 | 80157991 | Human | | name |
| 405040707 | CV3007411 | single nucleotide variant | NM_145868.2(ANXA11):c.230C>A (p.Ala77Asp) | not provided [RCV003696300] | uncertain significance | 10 | 80169300 | 80169300 | Human | | name |
| 405043731 | CV3007715 | single nucleotide variant | NM_145868.2(ANXA11):c.118G>A (p.Asp40Asn) | not provided [RCV003696462] | uncertain significance | 10 | 80170853 | 80170853 | Human | | name |
| 405178797 | CV3027611 | single nucleotide variant | NM_145868.2(ANXA11):c.1404C>T (p.Asp468=) | not provided [RCV003705336] | likely benign | 10 | 80157695 | 80157695 | Human | | name |
| 405216277 | CV3055633 | single nucleotide variant | NM_145868.2(ANXA11):c.103C>G (p.Pro35Ala) | not provided [RCV003732696] | likely benign | 10 | 80170868 | 80170868 | Human | | name |
| 405229318 | CV3072717 | single nucleotide variant | NM_145868.2(ANXA11):c.137C>T (p.Ala46Val) | not provided [RCV003734618] | uncertain significance | 10 | 80170834 | 80170834 | Human | | name |
| 405228175 | CV3143013 | single nucleotide variant | NM_145868.2(ANXA11):c.253G>A (p.Val85Met) | not provided [RCV003848356] | uncertain significance | 10 | 80169277 | 80169277 | Human | | name |
| 405101642 | CV3144331 | single nucleotide variant | NM_145868.2(ANXA11):c.238G>A (p.Ala80Thr) | not provided [RCV003852784] | uncertain significance | 10 | 80169292 | 80169292 | Human | | name |
| 405199507 | CV3164582 | single nucleotide variant | NM_145868.2(ANXA11):c.103C>T (p.Pro35Ser) | not provided [RCV003860639] | uncertain significance | 10 | 80170868 | 80170868 | Human | | name |
| 405696402 | CV3278797 | single nucleotide variant | NM_145868.2(ANXA11):c.183G>A (p.Met61Ile) | Inborn genetic diseases [RCV004424618] | uncertain significance | 10 | 80169347 | 80169347 | Human | 1 | name |
| 408372426 | CV3510198 | single nucleotide variant | NM_145868.2(ANXA11):c.1114C>T (p.Leu372=) | ANXA11-related disorder [RCV004743019] | likely benign | 10 | 80162001 | 80162001 | Human | | name , trait , alternate_id |
| 408373585 | CV3516187 | single nucleotide variant | NM_145868.2(ANXA11):c.1245C>G (p.Ser415=) | ANXA11-related disorder [RCV004745035] | likely benign | 10 | 80159131 | 80159131 | Human | | name , trait , alternate_id |
| 596926682 | CV3542358 | single nucleotide variant | NM_145868.2(ANXA11):c.1089G>A (p.Glu363=) | Inclusion body myopathy and brain white matter abnormalities [RCV004796574] | uncertain significance | 10 | 80162026 | 80162026 | Human | 1 | name |
| 597868804 | CV3749711 | single nucleotide variant | NM_145868.2(ANXA11):c.1281A>G (p.Lys427=) | not provided [RCV005068392] | likely benign | 10 | 80158021 | 80158021 | Human | | name |
| 597838333 | CV3758181 | single nucleotide variant | NM_145868.2(ANXA11):c.212C>T (p.Pro71Leu) | not provided [RCV005086015] | uncertain significance | 10 | 80169318 | 80169318 | Human | | name |
| 597975382 | CV3832367 | single nucleotide variant | NM_145868.2(ANXA11):c.158A>C (p.Tyr53Ser) | not provided [RCV005169104] | uncertain significance | 10 | 80170813 | 80170813 | Human | | name |
| 597932957 | CV3844578 | single nucleotide variant | NM_145868.2(ANXA11):c.1140T>C (p.Asn380=) | not provided [RCV005186085] | likely benign | 10 | 80161975 | 80161975 | Human | | name |
| 13508625 | CV481193 | single nucleotide variant | NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly) | ANXA11-related disorder [RCV003403366]|Amyotrophic lateral sclerosis type 23 [RCV000578138]|not provided [RCV001853834] | pathogenic | 10 | 80170852 | 80170852 | Human | 1 | name , trait , alternate_id |
| 13508626 | CV481194 | single nucleotide variant | NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg) | ANXA11-related disorder [RCV003962641]|Amyotrophic lateral sclerosis [RCV003105971]|Amyotrophic lateral sclerosis type 23 [RCV000578149]|not provided [RCV001860003] | pathogenic|likely pathogenic | 10 | 80170859 | 80170859 | Human | 3 | name , trait , alternate_id |
| 15107360 | CV768008 | deletion | NM_145868.2(ANXA11):c.408del (p.Gly137fs) | Inborn genetic diseases [RCV002544533]|not provided [RCV000937954] | likely benign|conflicting interpretations of pathogenicity | 10 | 80169122 | 80169122 | Human | 1 | name |
| 21071939 | CV790985 | single nucleotide variant | NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) | Amyotrophic lateral sclerosis type 23 [RCV000988396]|Inclusion body myopathy and brain white matter abnormalities [RCV001836926]|not provided [RCV002549708] | pathogenic|likely pathogenic | 10 | 80170853 | 80170853 | Human | 2 | name |
| 150464835 | CV1215340 | single nucleotide variant | NM_145868.2(ANXA11):c.572G>A (p.Arg191Gln) | Inclusion body myopathy and brain white matter abnormalities [RCV002260225]|not provided [RCV001614039] | benign | 10 | 80167303 | 80167303 | Human | 1 | name |
| 150438961 | CV1286974 | single nucleotide variant | NM_145868.2(ANXA11):c.688C>T (p.Arg230Cys) | Inclusion body myopathy and brain white matter abnormalities [RCV002260398]|not provided [RCV001724889] | benign | 10 | 80166946 | 80166946 | Human | 2 | name |
| 151806772 | CV1340287 | single nucleotide variant | NM_145868.2(ANXA11):c.814A>T (p.Thr272Ser) | not provided [RCV001867625] | uncertain significance | 10 | 80166128 | 80166128 | Human | | name |
| 151761203 | CV1349583 | single nucleotide variant | NM_145868.2(ANXA11):c.670A>G (p.Ile224Val) | Inborn genetic diseases [RCV004955934]|not provided [RCV001949163] | uncertain significance | 10 | 80166964 | 80166964 | Human | 1 | name |
| 151758215 | CV1349817 | single nucleotide variant | NM_145868.2(ANXA11):c.566G>A (p.Gly189Glu) | ANXA11-related disorder [RCV003941244]|not provided [RCV001986964] | uncertain significance | 10 | 80167309 | 80167309 | Human | 1 | name , trait , alternate_id |
| 151838092 | CV1350203 | single nucleotide variant | NM_145868.2(ANXA11):c.510C>A (p.Tyr170Ter) | not provided [RCV002015013] | uncertain significance | 10 | 80169020 | 80169020 | Human | | name |
| 151783692 | CV1350215 | single nucleotide variant | NM_145868.2(ANXA11):c.548T>C (p.Val183Ala) | not provided [RCV001989368] | uncertain significance | 10 | 80168982 | 80168982 | Human | | name |
| 151805101 | CV1363099 | single nucleotide variant | NM_145868.2(ANXA11):c.739G>A (p.Gly247Ser) | Inborn genetic diseases [RCV005375002]|not provided [RCV002028452] | uncertain significance | 10 | 80166895 | 80166895 | Human | 1 | name |
| 151751160 | CV1370648 | single nucleotide variant | NM_145868.2(ANXA11):c.517T>C (p.Tyr173His) | Inborn genetic diseases [RCV004953182]|not provided [RCV001872265] | uncertain significance | 10 | 80169013 | 80169013 | Human | 1 | name |
| 151801390 | CV1373269 | single nucleotide variant | NM_145868.2(ANXA11):c.451A>G (p.Thr151Ala) | not provided [RCV001932344] | uncertain significance | 10 | 80169079 | 80169079 | Human | | name |
| 151830899 | CV1384512 | single nucleotide variant | NM_145868.2(ANXA11):c.922C>T (p.Arg308Ter) | not provided [RCV001955670] | uncertain significance | 10 | 80164080 | 80164080 | Human | | name |
| 151736352 | CV1387754 | single nucleotide variant | NM_145868.2(ANXA11):c.649G>A (p.Gly217Arg) | not provided [RCV002005345] | uncertain significance | 10 | 80167226 | 80167226 | Human | | name |
| 151744971 | CV1406951 | single nucleotide variant | NM_145868.2(ANXA11):c.988A>G (p.Thr330Ala) | not provided [RCV002006208] | uncertain significance | 10 | 80163575 | 80163575 | Human | | name |
| 151768142 | CV1450756 | single nucleotide variant | NM_145868.2(ANXA11):c.399G>T (p.Met133Ile) | Inborn genetic diseases [RCV004651833]|not provided [RCV001929255] | uncertain significance | 10 | 80169131 | 80169131 | Human | 1 | name |
| 151774299 | CV1455515 | single nucleotide variant | NM_145868.2(ANXA11):c.467C>T (p.Pro156Leu) | not provided [RCV002045544] | uncertain significance | 10 | 80169063 | 80169063 | Human | | name |
| 151825582 | CV1467126 | single nucleotide variant | NM_145868.2(ANXA11):c.979C>T (p.Arg327Ter) | ANXA11-related disorder [RCV004743638]|not provided [RCV001901297] | uncertain significance | 10 | 80163584 | 80163584 | Human | 1 | name , trait , alternate_id |
| 151865823 | CV1484310 | duplication | NM_145868.2(ANXA11):c.1131dup (p.Lys378fs) | not provided [RCV001959812] | uncertain significance | 10 | 80161983 | 80161984 | Human | | name |
| 152126916 | CV1533895 | single nucleotide variant | NM_145868.2(ANXA11):c.322C>T (p.Pro108Ser) | Amyotrophic lateral sclerosis type 23 [RCV005361980]|not provided [RCV002136435] | benign|likely benign | 10 | 80169208 | 80169208 | Human | 1 | name |
| 152083798 | CV1554786 | single nucleotide variant | NM_145868.2(ANXA11):c.521C>T (p.Pro174Leu) | ANXA11-related disorder [RCV003911268]|not provided [RCV002211770] | likely benign | 10 | 80169009 | 80169009 | Human | 1 | name , trait , alternate_id |
| 152078694 | CV1557772 | single nucleotide variant | NM_145868.2(ANXA11):c.629G>A (p.Arg210Gln) | ANXA11-related disorder [RCV003923467]|not provided [RCV002170262] | likely benign | 10 | 80167246 | 80167246 | Human | 1 | name , trait , alternate_id |
| 152079247 | CV1557858 | single nucleotide variant | NM_145868.2(ANXA11):c.842T>C (p.Ile281Thr) | ANXA11-related disorder [RCV003941303]|not provided [RCV002170324] | likely benign | 10 | 80166100 | 80166100 | Human | 1 | name , trait , alternate_id |
| 152136505 | CV1560664 | single nucleotide variant | NM_145868.2(ANXA11):c.832A>G (p.Ile278Val) | ANXA11-related disorder [RCV003933484]|not provided [RCV002137610] | benign | 10 | 80166110 | 80166110 | Human | 1 | name , trait , alternate_id |
| 152031756 | CV1629234 | single nucleotide variant | NM_145868.2(ANXA11):c.962C>A (p.Thr321Asn) | ANXA11-related disorder [RCV003903477]|Amyotrophic lateral sclerosis type 23 [RCV003994402]|not provided [RCV002106227] | benign|likely benign | 10 | 80163601 | 80163601 | Human | 1 | name , trait , alternate_id |
| 152105011 | CV1658875 | single nucleotide variant | NM_145868.2(ANXA11):c.905G>A (p.Arg302His) | ANXA11-related disorder [RCV003923688]|Amyotrophic lateral sclerosis type 23 [RCV005361968]|not provided [RCV002152285] | benign|likely benign|uncertain significance | 10 | 80164097 | 80164097 | Human | 1 | name , trait , alternate_id |
| 152145073 | CV1661457 | single nucleotide variant | NM_145868.2(ANXA11):c.520C>T (p.Pro174Ser) | ANXA11-related disorder [RCV003923461]|not provided [RCV002157307] | likely benign | 10 | 80169010 | 80169010 | Human | 1 | name , trait , alternate_id |
| 155644563 | CV1710280 | single nucleotide variant | NM_145868.2(ANXA11):c.904C>T (p.Arg302Cys) | ANXA11-related disorder [RCV003395448]|Amyotrophic lateral sclerosis type 23 [RCV002293392]|not provided [RCV003574902] | uncertain significance | 10 | 80164098 | 80164098 | Human | 1 | name , trait , alternate_id |
| 156285574 | CV1884792 | single nucleotide variant | NM_145868.2(ANXA11):c.595G>A (p.Gly199Ser) | Inborn genetic diseases [RCV003161685]|not provided [RCV003061230] | uncertain significance | 10 | 80167280 | 80167280 | Human | 1 | name |
| 156413007 | CV1904685 | single nucleotide variant | NM_145868.2(ANXA11):c.854T>C (p.Ile285Thr) | not provided [RCV002588019] | uncertain significance | 10 | 80166088 | 80166088 | Human | | name |
| 156273604 | CV1915489 | single nucleotide variant | NM_145868.2(ANXA11):c.362C>T (p.Pro121Leu) | not provided [RCV002628187] | uncertain significance | 10 | 80169168 | 80169168 | Human | | name |
| 156186246 | CV1919211 | single nucleotide variant | NM_145868.2(ANXA11):c.985G>A (p.Asp329Asn) | not provided [RCV002595226] | likely benign | 10 | 80163578 | 80163578 | Human | | name |
| 156407376 | CV1960566 | single nucleotide variant | NM_145868.2(ANXA11):c.980G>A (p.Arg327Gln) | ANXA11-related disorder [RCV004744375]|not provided [RCV002586209] | uncertain significance | 10 | 80163583 | 80163583 | Human | 1 | name , trait , alternate_id |
| 156353353 | CV1994730 | single nucleotide variant | NM_145868.2(ANXA11):c.689G>A (p.Arg230His) | not provided [RCV002675748] | uncertain significance | 10 | 80166945 | 80166945 | Human | | name |
| 156134076 | CV2022865 | single nucleotide variant | NM_145868.2(ANXA11):c.817C>T (p.Pro273Ser) | not provided [RCV002740669] | uncertain significance | 10 | 80166125 | 80166125 | Human | | name |
| 156057748 | CV2024012 | single nucleotide variant | NM_145868.2(ANXA11):c.422C>G (p.Pro141Arg) | not provided [RCV002736728] | uncertain significance | 10 | 80169108 | 80169108 | Human | | name |
| 156121655 | CV2039894 | single nucleotide variant | NM_145868.2(ANXA11):c.703C>T (p.Arg235Trp) | not provided [RCV002785816] | uncertain significance | 10 | 80166931 | 80166931 | Human | | name |
| 155914033 | CV2066050 | single nucleotide variant | NM_145868.2(ANXA11):c.838G>A (p.Glu280Lys) | not provided [RCV002837926] | uncertain significance | 10 | 80166104 | 80166104 | Human | | name |
| 155980816 | CV2073949 | single nucleotide variant | NM_145868.2(ANXA11):c.605C>A (p.Pro202His) | not provided [RCV002842509] | uncertain significance | 10 | 80167270 | 80167270 | Human | | name |
| 156098379 | CV2103030 | single nucleotide variant | NM_145868.2(ANXA11):c.484G>A (p.Gly162Arg) | not provided [RCV002913307] | uncertain significance | 10 | 80169046 | 80169046 | Human | | name |
| 156303716 | CV2129637 | single nucleotide variant | NM_145868.2(ANXA11):c.409G>A (p.Gly137Arg) | not provided [RCV002962261] | uncertain significance | 10 | 80169121 | 80169121 | Human | | name |
| 155957496 | CV2172793 | single nucleotide variant | NM_145868.2(ANXA11):c.688C>G (p.Arg230Gly) | not provided [RCV003032766] | uncertain significance | 10 | 80166946 | 80166946 | Human | | name |
| 156117460 | CV2278847 | single nucleotide variant | NM_145868.2(ANXA11):c.688C>A (p.Arg230Ser) | Inborn genetic diseases [RCV002848841] | uncertain significance | 10 | 80166946 | 80166946 | Human | 1 | name |
| 156197663 | CV2293590 | single nucleotide variant | NM_145868.2(ANXA11):c.644G>C (p.Gly215Ala) | Inborn genetic diseases [RCV002874624]|not provided [RCV003777886] | uncertain significance | 10 | 80167231 | 80167231 | Human | 1 | name |
| 156004410 | CV2295933 | single nucleotide variant | NM_145868.2(ANXA11):c.403C>T (p.Pro135Ser) | Inborn genetic diseases [RCV002865645]|not provided [RCV003698995] | uncertain significance | 10 | 80169127 | 80169127 | Human | 1 | name |
| 156188885 | CV2328702 | single nucleotide variant | NM_145868.2(ANXA11):c.335A>G (p.Asn112Ser) | Inborn genetic diseases [RCV002930862] | uncertain significance | 10 | 80169195 | 80169195 | Human | 1 | name |
| 156158282 | CV2363867 | single nucleotide variant | NM_145868.2(ANXA11):c.674A>G (p.Asp225Gly) | Inborn genetic diseases [RCV002698086] | uncertain significance | 10 | 80166960 | 80166960 | Human | 1 | name |
| 329401385 | CV2460846 | single nucleotide variant | NM_145868.2(ANXA11):c.699G>C (p.Lys233Asn) | Inborn genetic diseases [RCV003198414] | uncertain significance | 10 | 80166935 | 80166935 | Human | 1 | name |
| 401860864 | CV2758668 | single nucleotide variant | NM_145868.2(ANXA11):c.944A>G (p.Lys315Arg) | Inborn genetic diseases [RCV003342373]|not provided [RCV005104075] | uncertain significance | 10 | 80164058 | 80164058 | Human | 1 | name |
| 401854404 | CV2777556 | single nucleotide variant | NM_145868.2(ANXA11):c.862G>A (p.Val288Ile) | Inborn genetic diseases [RCV003338328] | uncertain significance | 10 | 80164140 | 80164140 | Human | 1 | name |
| 401920413 | CV2797610 | single nucleotide variant | NM_145868.2(ANXA11):c.653C>T (p.Thr218Met) | ANXA11-related disorder [RCV003402628] | uncertain significance | 10 | 80166981 | 80166981 | Human | | name , trait , alternate_id |
| 401921180 | CV2797902 | single nucleotide variant | NM_145868.2(ANXA11):c.527C>G (p.Ser176Cys) | ANXA11-related disorder [RCV003402844] | uncertain significance | 10 | 80169003 | 80169003 | Human | | name , trait , alternate_id |
| 402515757 | CV2856700 | single nucleotide variant | NM_145868.2(ANXA11):c.610C>T (p.Arg204Ter) | not provided [RCV003575473] | uncertain significance | 10 | 80167265 | 80167265 | Human | | name |
| 405089266 | CV2943380 | single nucleotide variant | NM_145868.2(ANXA11):c.368A>G (p.Tyr123Cys) | Inborn genetic diseases [RCV004953346]|not provided [RCV003665091] | uncertain significance | 10 | 80169162 | 80169162 | Human | 1 | name |
| 405094194 | CV2947113 | single nucleotide variant | NM_145868.2(ANXA11):c.401C>T (p.Pro134Leu) | not provided [RCV003665411] | uncertain significance | 10 | 80169129 | 80169129 | Human | | name |
| 405213293 | CV2971107 | single nucleotide variant | NM_145868.2(ANXA11):c.584C>T (p.Thr195Ile) | not provided [RCV003679594] | uncertain significance | 10 | 80167291 | 80167291 | Human | | name |
| 405124160 | CV3021121 | single nucleotide variant | NM_145868.2(ANXA11):c.539C>A (p.Thr180Asn) | not provided [RCV003701072] | uncertain significance | 10 | 80168991 | 80168991 | Human | | name |
| 405055212 | CV3022471 | deletion | NM_145868.2(ANXA11):c.1433del (p.Gly478fs) | not provided [RCV003697237] | uncertain significance | 10 | 80157666 | 80157666 | Human | | name |
| 405074470 | CV3034682 | single nucleotide variant | NM_145868.2(ANXA11):c.767C>T (p.Ser256Phe) | ANXA11-related disorder [RCV004741670]|not provided [RCV003698516] | uncertain significance | 10 | 80166175 | 80166175 | Human | 1 | name , trait , alternate_id |
| 405253027 | CV3044235 | single nucleotide variant | NM_145868.2(ANXA11):c.437G>A (p.Gly146Glu) | Inborn genetic diseases [RCV004654312]|not provided [RCV003722409] | uncertain significance | 10 | 80169093 | 80169093 | Human | 1 | name |
| 405201093 | CV3143514 | single nucleotide variant | NM_145868.2(ANXA11):c.727A>G (p.Lys243Glu) | not provided [RCV003844500] | uncertain significance | 10 | 80166907 | 80166907 | Human | | name |
| 405249621 | CV3170139 | single nucleotide variant | NM_145868.2(ANXA11):c.844A>G (p.Lys282Glu) | not provided [RCV003869768] | uncertain significance | 10 | 80166098 | 80166098 | Human | | name |
| 407490022 | CV3451216 | single nucleotide variant | NM_145868.2(ANXA11):c.656A>G (p.Asp219Gly) | Inborn genetic diseases [RCV004641591] | uncertain significance | 10 | 80166978 | 80166978 | Human | 1 | name |
| 407490029 | CV3451225 | single nucleotide variant | NM_145868.2(ANXA11):c.701A>G (p.Gln234Arg) | Inborn genetic diseases [RCV004641593] | uncertain significance | 10 | 80166933 | 80166933 | Human | 1 | name |
| 407526816 | CV3451233 | single nucleotide variant | NM_145868.2(ANXA11):c.533C>G (p.Thr178Ser) | Inborn genetic diseases [RCV004654951] | uncertain significance | 10 | 80168997 | 80168997 | Human | 1 | name |
| 408371805 | CV3507907 | single nucleotide variant | NM_145868.2(ANXA11):c.502C>A (p.Pro168Thr) | ANXA11-related disorder [RCV004741938] | uncertain significance | 10 | 80169028 | 80169028 | Human | | name , trait , alternate_id |
| 408371816 | CV3507951 | single nucleotide variant | NM_145868.2(ANXA11):c.394C>T (p.Pro132Ser) | ANXA11-related disorder [RCV004741949] | uncertain significance | 10 | 80169136 | 80169136 | Human | | name , trait , alternate_id |
| 408372125 | CV3508586 | single nucleotide variant | NM_145868.2(ANXA11):c.476C>T (p.Pro159Leu) | ANXA11-related disorder [RCV004742756] | uncertain significance | 10 | 80169054 | 80169054 | Human | | name , trait , alternate_id |
| 408373371 | CV3515031 | single nucleotide variant | NM_145868.2(ANXA11):c.571C>T (p.Arg191Ter) | ANXA11-related disorder [RCV004744845] | uncertain significance | 10 | 80167304 | 80167304 | Human | | name , trait , alternate_id |
| 408371974 | CV3517535 | single nucleotide variant | NM_145868.2(ANXA11):c.439C>T (p.Gln147Ter) | ANXA11-related disorder [RCV004742110]|not provided [RCV005059898] | uncertain significance | 10 | 80169091 | 80169091 | Human | 1 | name , trait , alternate_id |
| 597711843 | CV3558383 | single nucleotide variant | NM_145868.2(ANXA11):c.376G>T (p.Ala126Ser) | Inborn genetic diseases [RCV004959221] | uncertain significance | 10 | 80169154 | 80169154 | Human | 1 | name |
| 597711858 | CV3558404 | single nucleotide variant | NM_145868.2(ANXA11):c.542C>T (p.Pro181Leu) | Inborn genetic diseases [RCV004959223] | uncertain significance | 10 | 80168988 | 80168988 | Human | 1 | name |
| 597711880 | CV3558434 | single nucleotide variant | NM_145868.2(ANXA11):c.676T>C (p.Cys226Arg) | Inborn genetic diseases [RCV004959226] | uncertain significance | 10 | 80166958 | 80166958 | Human | 1 | name |
| 597969387 | CV3753315 | single nucleotide variant | NM_145868.2(ANXA11):c.322C>A (p.Pro108Thr) | not provided [RCV005083799] | uncertain significance | 10 | 80169208 | 80169208 | Human | | name |
| 597939219 | CV3756793 | single nucleotide variant | NM_145868.2(ANXA11):c.503C>T (p.Pro168Leu) | not provided [RCV005077174] | uncertain significance | 10 | 80169027 | 80169027 | Human | | name |
| 597940577 | CV3760620 | single nucleotide variant | NM_145868.2(ANXA11):c.788A>T (p.Glu263Val) | not provided [RCV005077347] | uncertain significance | 10 | 80166154 | 80166154 | Human | | name |
| 597910566 | CV3806573 | single nucleotide variant | NM_145868.2(ANXA11):c.976A>G (p.Ile326Val) | not provided [RCV005154140] | uncertain significance | 10 | 80163587 | 80163587 | Human | | name |
| 597898162 | CV3806916 | single nucleotide variant | NM_145868.2(ANXA11):c.443C>T (p.Pro148Leu) | not provided [RCV005152303] | uncertain significance | 10 | 80169087 | 80169087 | Human | | name |
| 597878787 | CV3813734 | single nucleotide variant | NM_145868.2(ANXA11):c.374G>C (p.Gly125Ala) | not provided [RCV005149476] | uncertain significance | 10 | 80169156 | 80169156 | Human | | name |
| 597951354 | CV3815345 | single nucleotide variant | NM_145868.2(ANXA11):c.349A>T (p.Met117Leu) | not provided [RCV005161295] | uncertain significance | 10 | 80169181 | 80169181 | Human | | name |
| 597947278 | CV3817871 | single nucleotide variant | NM_145868.2(ANXA11):c.796A>G (p.Ile266Val) | not provided [RCV005160338] | uncertain significance | 10 | 80166146 | 80166146 | Human | | name |
| 597963791 | CV3830298 | single nucleotide variant | NM_145868.2(ANXA11):c.974C>G (p.Ala325Gly) | not provided [RCV005164438] | uncertain significance | 10 | 80163589 | 80163589 | Human | | name |
| 597890961 | CV3835945 | single nucleotide variant | NM_145868.2(ANXA11):c.921C>G (p.Ile307Met) | not provided [RCV005179718] | uncertain significance | 10 | 80164081 | 80164081 | Human | | name |
| 597960072 | CV3843545 | single nucleotide variant | NM_145868.2(ANXA11):c.898G>A (p.Ala300Thr) | not provided [RCV005192582] | uncertain significance | 10 | 80164104 | 80164104 | Human | | name |
| 597887083 | CV3855253 | single nucleotide variant | NM_145868.2(ANXA11):c.962C>G (p.Thr321Ser) | not provided [RCV005199898] | uncertain significance | 10 | 80163601 | 80163601 | Human | | name |
| 13508624 | CV481195 | single nucleotide variant | NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg) | Amyotrophic lateral sclerosis type 23 [RCV000578135]|not provided [RCV002526932] | pathogenic|uncertain significance | 10 | 80169007 | 80169007 | Human | 1 | name |
| 15201760 | CV724087 | single nucleotide variant | NM_145868.2(ANXA11):c.731C>T (p.Thr244Met) | ANXA11-related disorder [RCV003940686]|not provided [RCV000891283] | likely benign | 10 | 80166903 | 80166903 | Human | 1 | name , trait , alternate_id |
| 151730837 | CV1334979 | single nucleotide variant | NM_145868.2(ANXA11):c.1481G>A (p.Arg494Gln) | Amyotrophic lateral sclerosis [RCV001843937]|not provided [RCV001885393] | uncertain significance | 10 | 80155890 | 80155890 | Human | 2 | name |
| 151859891 | CV1337465 | single nucleotide variant | NM_145868.2(ANXA11):c.1328C>A (p.Ala443Asp) | Inborn genetic diseases [RCV003303409]|not provided [RCV001923863] | uncertain significance | 10 | 80157974 | 80157974 | Human | 1 | name |
| 151794252 | CV1338216 | single nucleotide variant | NM_145868.2(ANXA11):c.1166C>T (p.Ala389Val) | not provided [RCV001898468] | uncertain significance | 10 | 80161949 | 80161949 | Human | | name |
| 151799558 | CV1347611 | single nucleotide variant | NM_145868.2(ANXA11):c.1037G>A (p.Arg346His) | not provided [RCV002027960] | uncertain significance | 10 | 80163398 | 80163398 | Human | | name |
| 151866585 | CV1358602 | single nucleotide variant | NM_145868.2(ANXA11):c.1191G>C (p.Glu397Asp) | Inborn genetic diseases [RCV002562242]|not provided [RCV001939232] | uncertain significance | 10 | 80159185 | 80159185 | Human | 1 | name |
| 151855076 | CV1372794 | single nucleotide variant | NM_145868.2(ANXA11):c.1006C>T (p.Arg336Trp) | not provided [RCV001996436] | uncertain significance | 10 | 80163557 | 80163557 | Human | | name |
| 151813992 | CV1373322 | single nucleotide variant | NM_145868.2(ANXA11):c.1081G>A (p.Ala361Thr) | Inborn genetic diseases [RCV004953194]|not provided [RCV001900228] | uncertain significance | 10 | 80163354 | 80163354 | Human | 1 | name |
| 151746888 | CV1375066 | single nucleotide variant | NM_145868.2(ANXA11):c.1162C>T (p.Arg388Trp) | not provided [RCV001947697] | uncertain significance | 10 | 80161953 | 80161953 | Human | | name |
| 151748148 | CV1383077 | single nucleotide variant | NM_145868.2(ANXA11):c.1102G>A (p.Gly368Arg) | Inborn genetic diseases [RCV005374894]|not provided [RCV001947841] | uncertain significance | 10 | 80162013 | 80162013 | Human | 1 | name |
| 151893076 | CV1411920 | single nucleotide variant | NM_145868.2(ANXA11):c.1457C>T (p.Ser486Leu) | ANXA11-related disorder [RCV003401798]|Inborn genetic diseases [RCV004040357]|not provided [RCV001944741]|not specified [RCV004801067] | uncertain significance | 10 | 80157642 | 80157642 | Human | 2 | name , trait , alternate_id |
| 151822481 | CV1415742 | single nucleotide variant | NM_145868.2(ANXA11):c.1169A>C (p.His390Pro) | not provided [RCV001901020] | uncertain significance | 10 | 80161946 | 80161946 | Human | | name |
| 151846610 | CV1423865 | single nucleotide variant | NM_145868.2(ANXA11):c.1205C>T (p.Thr402Ile) | not provided [RCV001995417] | uncertain significance | 10 | 80159171 | 80159171 | Human | | name |
| 151771639 | CV1431328 | single nucleotide variant | NM_145868.2(ANXA11):c.1424G>A (p.Arg475Gln) | Amyotrophic lateral sclerosis type 23 [RCV003389074]|not provided [RCV001915034] | uncertain significance | 10 | 80157675 | 80157675 | Human | 1 | name |
| 151853231 | CV1459128 | single nucleotide variant | NM_145868.2(ANXA11):c.1234C>T (p.Arg412Trp) | Inborn genetic diseases [RCV003303641]|not provided [RCV002016867] | uncertain significance | 10 | 80159142 | 80159142 | Human | 1 | name |
| 151876394 | CV1461389 | single nucleotide variant | NM_145868.2(ANXA11):c.1450G>C (p.Asp484His) | not provided [RCV001925870] | uncertain significance | 10 | 80157649 | 80157649 | Human | | name |
| 151873451 | CV1470190 | single nucleotide variant | NM_145868.2(ANXA11):c.1168C>T (p.His390Tyr) | not provided [RCV001885566] | uncertain significance | 10 | 80161947 | 80161947 | Human | | name |
| 151719319 | CV1505843 | single nucleotide variant | NM_145868.2(ANXA11):c.1423C>T (p.Arg475Trp) | ANXA11-related disorder [RCV004743596]|not provided [RCV002039835] | uncertain significance | 10 | 80157676 | 80157676 | Human | 1 | name , trait , alternate_id |
| 151820657 | CV1510546 | single nucleotide variant | NM_145868.2(ANXA11):c.1511A>G (p.Asn504Ser) | not provided [RCV001934112] | uncertain significance | 10 | 80155860 | 80155860 | Human | | name |
| 151727396 | CV1511789 | single nucleotide variant | NM_145868.2(ANXA11):c.1480C>T (p.Arg494Trp) | not provided [RCV001983853] | uncertain significance | 10 | 80155891 | 80155891 | Human | | name |
| 151728770 | CV1515161 | single nucleotide variant | NM_145868.2(ANXA11):c.1363A>G (p.Ile455Val) | not provided [RCV002040981] | uncertain significance | 10 | 80157736 | 80157736 | Human | | name |
| 152120482 | CV1547396 | single nucleotide variant | NM_145868.2(ANXA11):c.1156C>T (p.Arg386Trp) | ANXA11-related disorder [RCV003970992]|not provided [RCV002081482] | benign|likely benign | 10 | 80161959 | 80161959 | Human | 1 | name , trait , alternate_id |
| 156293920 | CV1892161 | single nucleotide variant | NM_145868.2(ANXA11):c.1471G>A (p.Gly491Arg) | not provided [RCV003061576] | uncertain significance | 10 | 80155900 | 80155900 | Human | | name |
| 156242362 | CV1992616 | single nucleotide variant | NM_145868.2(ANXA11):c.1355G>A (p.Arg452Gln) | not provided [RCV002627178] | uncertain significance | 10 | 80157744 | 80157744 | Human | | name |
| 156089102 | CV1994215 | single nucleotide variant | NM_145868.2(ANXA11):c.1246G>A (p.Gly416Arg) | Inborn genetic diseases [RCV002658217]|not provided [RCV002639155] | uncertain significance | 10 | 80159130 | 80159130 | Human | 1 | name |
| 156067165 | CV2018391 | single nucleotide variant | NM_145868.2(ANXA11):c.1393G>A (p.Asp465Asn) | not provided [RCV002705567] | uncertain significance | 10 | 80157706 | 80157706 | Human | | name |
| 156027879 | CV2025814 | single nucleotide variant | NM_145868.2(ANXA11):c.1111C>T (p.Arg371Cys) | ANXA11-related disorder [RCV003418599]|not provided [RCV002735678] | uncertain significance | 10 | 80162004 | 80162004 | Human | 1 | name , trait , alternate_id |
| 156373271 | CV2028276 | single nucleotide variant | NM_145868.2(ANXA11):c.1382G>A (p.Arg461His) | Amyotrophic lateral sclerosis type 23 [RCV005370284]|not provided [RCV002721701] | uncertain significance | 10 | 80157717 | 80157717 | Human | 1 | name |
| 155954527 | CV2033317 | indel | NM_145868.2(ANXA11):c.1181-6_1181-5delinsTT | not provided [RCV002730857] | uncertain significance | 10 | 80159200 | 80159201 | Human | | name |
| 156119615 | CV2035813 | single nucleotide variant | NM_145868.2(ANXA11):c.1273G>A (p.Val425Met) | not provided [RCV002785737] | uncertain significance | 10 | 80159103 | 80159103 | Human | | name |
| 155924254 | CV2044873 | single nucleotide variant | NM_145868.2(ANXA11):c.1365T>G (p.Ile455Met) | not provided [RCV002750857] | uncertain significance | 10 | 80157734 | 80157734 | Human | | name |
| 156022433 | CV2105822 | single nucleotide variant | NM_145868.2(ANXA11):c.1147C>A (p.Leu383Met) | not provided [RCV002923129] | uncertain significance | 10 | 80161968 | 80161968 | Human | | name |
| 156031240 | CV2126537 | single nucleotide variant | NM_145868.2(ANXA11):c.1069G>A (p.Ala357Thr) | not provided [RCV002949236] | uncertain significance | 10 | 80163366 | 80163366 | Human | | name |
| 156024964 | CV2128858 | single nucleotide variant | NM_145868.2(ANXA11):c.1354C>T (p.Arg452Trp) | ANXA11-related disorder [RCV003926589]|not provided [RCV002948956] | benign | 10 | 80157745 | 80157745 | Human | 1 | name , trait , alternate_id |
| 155967000 | CV2142606 | single nucleotide variant | NM_145868.2(ANXA11):c.1054G>A (p.Val352Met) | not provided [RCV002995437] | uncertain significance | 10 | 80163381 | 80163381 | Human | | name |
| 155915328 | CV2200218 | single nucleotide variant | NM_145868.2(ANXA11):c.1061T>C (p.Met354Thr) | Inborn genetic diseases [RCV002682047]|not provided [RCV005099457] | uncertain significance | 10 | 80163374 | 80163374 | Human | 1 | name |
| 156380202 | CV2207986 | single nucleotide variant | NM_145868.2(ANXA11):c.1228A>G (p.Ile410Val) | Inborn genetic diseases [RCV002722357]|not provided [RCV005099533] | uncertain significance | 10 | 80159148 | 80159148 | Human | 1 | name |
| 156063445 | CV2272354 | single nucleotide variant | NM_145868.2(ANXA11):c.1211G>A (p.Arg404Gln) | Inborn genetic diseases [RCV002823033] | uncertain significance | 10 | 80159165 | 80159165 | Human | 1 | name |
| 329952459 | CV2669917 | single nucleotide variant | NM_145868.2(ANXA11):c.1469C>A (p.Ser490Ter) | not provided [RCV003233130] | uncertain significance | 10 | 80155902 | 80155902 | Human | | name |
| 401878628 | CV2770731 | single nucleotide variant | NM_145868.2(ANXA11):c.1235G>A (p.Arg412Gln) | Inborn genetic diseases [RCV003363993]|not provided [RCV003730554] | uncertain significance | 10 | 80159141 | 80159141 | Human | 1 | name |
| 401912741 | CV2800635 | single nucleotide variant | NM_145868.2(ANXA11):c.1339G>A (p.Ala447Thr) | ANXA11-related disorder [RCV003399887] | uncertain significance | 10 | 80157760 | 80157760 | Human | | name , trait , alternate_id |
| 401907209 | CV2804875 | single nucleotide variant | NM_145868.2(ANXA11):c.1187A>G (p.Asn396Ser) | ANXA11-related disorder [RCV003422486] | uncertain significance | 10 | 80159189 | 80159189 | Human | | name , trait , alternate_id |
| 405236111 | CV2887853 | single nucleotide variant | NM_145868.2(ANXA11):c.1112G>A (p.Arg371His) | ANXA11-related disorder [RCV003901151]|not provided [RCV003556420] | likely benign | 10 | 80162003 | 80162003 | Human | 1 | name , trait , alternate_id |
| 405233945 | CV3145131 | single nucleotide variant | NM_145868.2(ANXA11):c.1163G>A (p.Arg388Gln) | not provided [RCV003853388] | uncertain significance | 10 | 80161952 | 80161952 | Human | | name |
| 405185872 | CV3149013 | single nucleotide variant | NM_145868.2(ANXA11):c.1036C>T (p.Arg346Cys) | not provided [RCV003842935] | uncertain significance | 10 | 80163399 | 80163399 | Human | | name |
| 405228828 | CV3153400 | single nucleotide variant | NM_145868.2(ANXA11):c.1210C>T (p.Arg404Trp) | not provided [RCV003848464] | uncertain significance | 10 | 80159166 | 80159166 | Human | | name |
| 405222029 | CV3154868 | single nucleotide variant | NM_145868.2(ANXA11):c.1100C>T (p.Ala367Val) | not provided [RCV003847363] | likely benign | 10 | 80162015 | 80162015 | Human | | name |
| 402502582 | CV3181105 | single nucleotide variant | NM_145868.2(ANXA11):c.1243T>A (p.Ser415Thr) | not provided [RCV003878122] | uncertain significance | 10 | 80159133 | 80159133 | Human | | name |
| 408371792 | CV3507570 | single nucleotide variant | NM_145868.2(ANXA11):c.1346C>T (p.Thr449Ile) | ANXA11-related disorder [RCV004741871] | uncertain significance | 10 | 80157753 | 80157753 | Human | | name , trait , alternate_id |
| 408372110 | CV3508365 | single nucleotide variant | NM_145868.2(ANXA11):c.1319T>C (p.Leu440Pro) | ANXA11-related disorder [RCV004742714]|not provided [RCV005103684] | uncertain significance | 10 | 80157983 | 80157983 | Human | 1 | name , trait , alternate_id |
| 408372979 | CV3513655 | single nucleotide variant | NM_145868.2(ANXA11):c.1007G>A (p.Arg336Gln) | ANXA11-related disorder [RCV004744094] | uncertain significance | 10 | 80163556 | 80163556 | Human | | name , trait , alternate_id |
| 597711838 | CV3558357 | single nucleotide variant | NM_145868.2(ANXA11):c.1102G>C (p.Gly368Arg) | Inborn genetic diseases [RCV004959220] | uncertain significance | 10 | 80162013 | 80162013 | Human | 1 | name |
| 597711866 | CV3558413 | single nucleotide variant | NM_145868.2(ANXA11):c.1130C>G (p.Ser377Cys) | Inborn genetic diseases [RCV004959224] | uncertain significance | 10 | 80161985 | 80161985 | Human | 1 | name |
| 597711873 | CV3558423 | single nucleotide variant | NM_145868.2(ANXA11):c.1126G>A (p.Glu376Lys) | Inborn genetic diseases [RCV004959225] | uncertain significance | 10 | 80161989 | 80161989 | Human | 1 | name |
| 597870786 | CV3749960 | single nucleotide variant | NM_145868.2(ANXA11):c.1262G>T (p.Gly421Val) | not provided [RCV005068641] | uncertain significance | 10 | 80159114 | 80159114 | Human | | name |
| 597961727 | CV3795241 | single nucleotide variant | NM_145868.2(ANXA11):c.1268T>A (p.Leu423Gln) | not provided [RCV005138933] | uncertain significance | 10 | 80159108 | 80159108 | Human | | name |
| 597948340 | CV3800933 | single nucleotide variant | NM_145868.2(ANXA11):c.1004A>G (p.Gln335Arg) | not provided [RCV005135333] | uncertain significance | 10 | 80163559 | 80163559 | Human | | name |
| 597880861 | CV3810256 | single nucleotide variant | NM_145868.2(ANXA11):c.1048A>C (p.Thr350Pro) | not provided [RCV005149717] | uncertain significance | 10 | 80163387 | 80163387 | Human | | name |
| 597860100 | CV3817231 | single nucleotide variant | NM_145868.2(ANXA11):c.1358C>T (p.Thr453Ile) | not provided [RCV005146611] | uncertain significance | 10 | 80157741 | 80157741 | Human | | name |
| 597911828 | CV3834156 | single nucleotide variant | NM_145868.2(ANXA11):c.1237G>A (p.Glu413Lys) | not provided [RCV005182918] | uncertain significance | 10 | 80159139 | 80159139 | Human | | name |
| 597910081 | CV3854163 | single nucleotide variant | NM_145868.2(ANXA11):c.1154C>T (p.Ser385Phe) | not provided [RCV005203431] | uncertain significance | 10 | 80161961 | 80161961 | Human | | name |
| 598244259 | CV3895523 | single nucleotide variant | NM_145868.2(ANXA11):c.1010T>A (p.Leu337His) | Amyotrophic lateral sclerosis type 23 [RCV005365649] | uncertain significance | 10 | 80163553 | 80163553 | Human | 1 | name |
| 598228001 | CV3986624 | single nucleotide variant | NM_145868.2(ANXA11):c.1062G>A (p.Met354Ile) | Inborn genetic diseases [RCV005380855] | uncertain significance | 10 | 80163373 | 80163373 | Human | 1 | name |
| 598228036 | CV3986633 | single nucleotide variant | NM_145868.2(ANXA11):c.1409G>C (p.Arg470Thr) | Inborn genetic diseases [RCV005380861] | uncertain significance | 10 | 80157690 | 80157690 | Human | 1 | name |
| 598228124 | CV3986654 | single nucleotide variant | NM_145868.2(ANXA11):c.1363A>T (p.Ile455Phe) | Inborn genetic diseases [RCV005380876] | uncertain significance | 10 | 80157736 | 80157736 | Human | 1 | name |
| 15202575 | CV724085 | single nucleotide variant | NM_145868.2(ANXA11):c.1369A>G (p.Ile457Val) | not provided [RCV000891513] | benign | 10 | 80157730 | 80157730 | Human | | name |
| 15194889 | CV724086 | single nucleotide variant | NM_145868.2(ANXA11):c.1105G>A (p.Glu369Lys) | not provided [RCV000889345] | benign|likely benign | 10 | 80162010 | 80162010 | Human | | name |
| 151717556 | CV1334978 | microsatellite | NM_145868.2(ANXA11):c.488AGC[2] (p.Gln165del) | Amyotrophic lateral sclerosis [RCV001843936] | uncertain significance | 10 | 80169034 | 80169036 | Human | | name |
| 155988470 | CV2094333 | insertion | NM_145868.2(ANXA11):c.461_462insA (p.Gln155fs) | not provided [RCV002882276] | uncertain significance | 10 | 80169068 | 80169069 | Human | | name |
| 597911362 | CV3778253 | indel | NM_145868.2(ANXA11):c.1087-355_1114delinsTTCCCAT | not provided [RCV005128792] | uncertain significance | 10 | 80162001 | 80162383 | Human | | name |
| 152162330 | CV1584793 | microsatellite | NM_145868.2(ANXA11):c.222CCCTGGGGC[1] (p.75PGA[1]) | ANXA11-related disorder [RCV003903495]|not provided [RCV002123427] | likely benign | 10 | 80169291 | 80169299 | Human | | name , trait , alternate_id |
| 243053255 | CV2418185 | indel | NM_145868.2(ANXA11):c.118_119delinsAT (p.Asp40Ile) | Oculopharyngeal muscular dystrophy 1 [RCV005245546] | pathogenic | 10 | 80170852 | 80170853 | Human | | name |
| 401920689 | CV2804290 | deletion | NM_145868.2(ANXA11):c.237_266del (p.Ala80_Gly89del) | ANXA11-related disorder [RCV003402713] | uncertain significance | 10 | 80169264 | 80169293 | Human | | name , trait , alternate_id |
| 151768990 | CV1410537 | indel | NM_145868.2(ANXA11):c.1010_1011delinsAA (p.Leu337Gln) | ANXA11-related disorder [RCV003418239]|Amyotrophic lateral sclerosis type 23 [RCV004762271]|not provided [RCV001988058] | uncertain significance | 10 | 80163552 | 80163553 | Human | | name , trait , alternate_id |
| 151773801 | CV1417197 | deletion | NM_145868.2(ANXA11):c.425_448del (p.Gly142_Pro149del) | not provided [RCV001971435] | uncertain significance | 10 | 80169082 | 80169105 | Human | | name |
| 401933404 | CV2804084 | deletion | NM_145868.2(ANXA11):c.438_461del (p.Thr151_Val158del) | ANXA11-related disorder [RCV003392835]|Amyotrophic lateral sclerosis type 23 [RCV004796807]|not provided [RCV003738454] | uncertain significance | 10 | 80169069 | 80169092 | Human | 1 | name , trait , alternate_id |
| 156227759 | CV2115446 | indel | NM_145868.2(ANXA11):c.992_995delinsTCGAAGCC (p.Ser331fs) | not provided [RCV002932706] | uncertain significance | 10 | 80163568 | 80163571 | Human | | name |
| 408372628 | CV3511400 | duplication | NM_145868.2(ANXA11):c.444_467dup (p.Val158_Pro159insThrTyrProGlyGlnProProVal) | ANXA11-related disorder [RCV004743720] | uncertain significance | 10 | 80169062 | 80169063 | Human | | name , trait , alternate_id |