| 11656384 | CV303954 | single nucleotide variant | NM_001715.3(BLK):c.-9T>C | Maturity onset diabetes mellitus in young [RCV000332944] | uncertain significance | 8 | 11494584 | 11494584 | Human | 1 | name |
| 11594908 | CV304030 | single nucleotide variant | NM_001715.3(BLK):c.*92G>C | Maturity-onset diabetes of the young type 11 [RCV000364672]|Systemic lupus erythematosus [RCV002465639]|not provided [RCV001692052] | benign|likely benign | 8 | 11564200 | 11564200 | Human | 3 | name |
| 11600939 | CV307514 | single nucleotide variant | NM_001715.3(BLK):c.-46A>G | Maturity-onset diabetes of the young type 11 [RCV000278008]|not provided [RCV001712764] | benign | 8 | 11494547 | 11494547 | Human | 1 | name |
| 28907940 | CV898750 | single nucleotide variant | NM_001715.3(BLK):c.-76G>A | Maturity-onset diabetes of the young type 11 [RCV001159818] | uncertain significance | 8 | 11494517 | 11494517 | Human | 1 | name |
| 28907941 | CV898751 | single nucleotide variant | NM_001715.3(BLK):c.-47C>T | Maturity-onset diabetes of the young type 11 [RCV001159819] | uncertain significance | 8 | 11494546 | 11494546 | Human | 1 | name |
| 28908310 | CV898765 | single nucleotide variant | NM_001715.3(BLK):c.*42A>G | Maturity-onset diabetes of the young type 11 [RCV001160048] | uncertain significance | 8 | 11564150 | 11564150 | Human | 1 | name |
| 8563045 | CV27359 | single nucleotide variant | NM_001715.3(BLK):c.*338T>G | Maturity-onset diabetes of the young type 11 [RCV000013113]|not specified [RCV002247331] | pathogenic|benign|likely benign|uncertain significance | 8 | 11564446 | 11564446 | Human | 1 | name |
| 11587381 | CV303948 | single nucleotide variant | NM_001715.2(BLK):c.-530G>A | Maturity onset diabetes mellitus in young [RCV000294481] | likely benign | 8 | 11494063 | 11494063 | Human | 1 | name |
| 11586916 | CV303950 | single nucleotide variant | NM_001715.2(BLK):c.-448T>C | Maturity onset diabetes mellitus in young [RCV000291130]|not provided [RCV004705451] | likely benign | 8 | 11494145 | 11494145 | Human | 1 | name |
| 11597548 | CV303951 | single nucleotide variant | NM_001715.2(BLK):c.-440G>A | Maturity onset diabetes mellitus in young [RCV000395605]|not provided [RCV004696048] | uncertain significance | 8 | 11494153 | 11494153 | Human | 1 | name |
| 11659422 | CV303953 | single nucleotide variant | NM_001715.3(BLK):c.-203C>T | Maturity-onset diabetes of the young type 11 [RCV000357452] | uncertain significance | 8 | 11494390 | 11494390 | Human | 1 | name |
| 11588919 | CV304039 | single nucleotide variant | NM_001715.3(BLK):c.*176C>T | Maturity-onset diabetes of the young type 11 [RCV000306446]|Systemic lupus erythematosus [RCV002465640]|not provided [RCV001643096] | benign|likely benign | 8 | 11564284 | 11564284 | Human | 3 | name |
| 11607998 | CV307485 | single nucleotide variant | NM_001715.2(BLK):c.-484G>A | Maturity onset diabetes mellitus in young [RCV000349687] | uncertain significance | 8 | 11494109 | 11494109 | Human | 1 | name |
| 11662401 | CV307487 | single nucleotide variant | NM_001715.2(BLK):c.-475A>C | Maturity onset diabetes mellitus in young [RCV000385519] | uncertain significance | 8 | 11494118 | 11494118 | Human | 1 | name |
| 11652628 | CV307497 | single nucleotide variant | NM_001715.2(BLK):c.-375G>A | Maturity onset diabetes mellitus in young [RCV000305990] | uncertain significance | 8 | 11494218 | 11494218 | Human | 1 | name |
| 11664065 | CV307498 | single nucleotide variant | NM_001715.2(BLK):c.-267C>T | Maturity onset diabetes mellitus in young [RCV000402101] | uncertain significance | 8 | 11494326 | 11494326 | Human | 1 | name |
| 11603717 | CV307499 | single nucleotide variant | NM_001715.2(BLK):c.-209C>T | Maturity onset diabetes mellitus in young [RCV000302605] | uncertain significance | 8 | 11494384 | 11494384 | Human | 1 | name |
| 11603339 | CV307501 | single nucleotide variant | NM_001715.3(BLK):c.-165G>T | Maturity-onset diabetes of the young type 11 [RCV000298615] | benign|likely benign | 8 | 11494428 | 11494428 | Human | 1 | name |
| 11659044 | CV307512 | single nucleotide variant | NM_001715.3(BLK):c.-124C>T | Maturity-onset diabetes of the young type 11 [RCV000354038] | uncertain significance | 8 | 11494469 | 11494469 | Human | 1 | name |
| 11663934 | CV307636 | single nucleotide variant | NM_001715.3(BLK):c.*161C>G | Maturity-onset diabetes of the young type 11 [RCV000400567] | uncertain significance | 8 | 11564269 | 11564269 | Human | 1 | name |
| 11659874 | CV307637 | deletion | NM_001715.3(BLK):c.*182del | Maturity onset diabetes mellitus in young [RCV000361858] | uncertain significance | 8 | 11564286 | 11564286 | Human | 1 | name |
| 11611006 | CV312503 | single nucleotide variant | NM_001715.2(BLK):c.-531C>T | Maturity onset diabetes mellitus in young [RCV000389022] | uncertain significance | 8 | 11494062 | 11494062 | Human | 1 | name |
| 11607344 | CV312521 | single nucleotide variant | NM_001715.2(BLK):c.-304C>G | Maturity onset diabetes mellitus in young [RCV000342246] | likely benign | 8 | 11494289 | 11494289 | Human | 1 | name |
| 11607661 | CV312557 | single nucleotide variant | NM_001715.2(BLK):c.-441C>A | Maturity onset diabetes mellitus in young [RCV000346097]|not provided [RCV003437130] | benign|likely benign | 8 | 11494152 | 11494152 | Human | 1 | name |
| 11599039 | CV312558 | single nucleotide variant | NM_001715.3(BLK):c.-190C>T | Maturity-onset diabetes of the young type 11 [RCV000262184]|not provided [RCV004712479] | benign | 8 | 11494403 | 11494403 | Human | 2 | name |
| 11645791 | CV312669 | single nucleotide variant | NM_001715.3(BLK):c.*289G>A | Maturity-onset diabetes of the young type 11 [RCV000267214] | uncertain significance | 8 | 11564397 | 11564397 | Human | 1 | name |
| 11655006 | CV312671 | single nucleotide variant | NM_001715.3(BLK):c.*324G>A | Maturity-onset diabetes of the young type 11 [RCV000322347] | uncertain significance | 8 | 11564432 | 11564432 | Human | 1 | name |
| 11599187 | CV312774 | single nucleotide variant | NM_001715.3(BLK):c.*348C>G | Maturity-onset diabetes of the young type 11 [RCV000263436]|not provided [RCV004725189] | benign|likely benign | 8 | 11564456 | 11564456 | Human | 1 | name |
| 11654569 | CV312775 | single nucleotide variant | NM_001715.3(BLK):c.*376C>T | Maturity-onset diabetes of the young type 11 [RCV000318587] | uncertain significance | 8 | 11564484 | 11564484 | Human | 1 | name |
| 11609838 | CV312777 | single nucleotide variant | NM_001715.3(BLK):c.*428G>A | Maturity-onset diabetes of the young type 11 [RCV000373190]|Systemic lupus erythematosus [RCV003105884]|not provided [RCV001683435] | benign | 8 | 11564536 | 11564536 | Human | 3 | name |
| 11600985 | CV312780 | single nucleotide variant | NM_001715.3(BLK):c.*444C>A | Maturity-onset diabetes of the young type 11 [RCV000278657] | benign|likely benign | 8 | 11564552 | 11564552 | Human | 1 | name |
| 28873127 | CV898749 | single nucleotide variant | NM_001715.3(BLK):c.-201G>A | Maturity-onset diabetes of the young type 11 [RCV001164735] | uncertain significance | 8 | 11494392 | 11494392 | Human | 1 | name |
| 28908311 | CV898766 | single nucleotide variant | NM_001715.3(BLK):c.*130G>T | Maturity-onset diabetes of the young type 11 [RCV001160049] | uncertain significance | 8 | 11564238 | 11564238 | Human | 1 | name |
| 28908313 | CV898767 | single nucleotide variant | NM_001715.3(BLK):c.*209C>G | Maturity-onset diabetes of the young type 11 [RCV001160050] | uncertain significance | 8 | 11564317 | 11564317 | Human | 1 | name |
| 28908316 | CV898768 | single nucleotide variant | NM_001715.3(BLK):c.*214C>T | Maturity-onset diabetes of the young type 11 [RCV001160051] | uncertain significance | 8 | 11564322 | 11564322 | Human | 1 | name |
| 28910474 | CV898769 | single nucleotide variant | NM_001715.3(BLK):c.*229G>C | Maturity-onset diabetes of the young type 11 [RCV001161457] | uncertain significance | 8 | 11564337 | 11564337 | Human | 1 | name |
| 28910475 | CV898770 | single nucleotide variant | NM_001715.3(BLK):c.*271G>A | Maturity-onset diabetes of the young type 11 [RCV001161458] | uncertain significance | 8 | 11564379 | 11564379 | Human | 1 | name |
| 28910476 | CV898771 | single nucleotide variant | NM_001715.3(BLK):c.*366G>A | Maturity-onset diabetes of the young type 11 [RCV001161459] | uncertain significance | 8 | 11564474 | 11564474 | Human | 1 | name |
| 28910478 | CV898772 | single nucleotide variant | NM_001715.3(BLK):c.*371C>A | Maturity-onset diabetes of the young type 11 [RCV001161460] | likely benign | 8 | 11564479 | 11564479 | Human | 1 | name |
| 28869219 | CV898773 | single nucleotide variant | NM_001715.3(BLK):c.*461G>A | Maturity-onset diabetes of the young type 11 [RCV001162990] | uncertain significance | 8 | 11564569 | 11564569 | Human | 1 | name |
| 150407638 | CV1182383 | single nucleotide variant | NM_001715.3(BLK):c.-1-53G>A | Maturity-onset diabetes of the young type 11 [RCV001554069]|Systemic lupus erythematosus [RCV002464468]|not provided [RCV001676057] | benign | 8 | 11543171 | 11543171 | Human | 3 | name |
| 150496311 | CV1283242 | single nucleotide variant | NM_001715.3(BLK):c.-1-83G>A | not provided [RCV001717599] | benign | 8 | 11543141 | 11543141 | Human | | name |
| 151762808 | CV1423957 | single nucleotide variant | NM_001715.3(BLK):c.269+2T>A | not provided [RCV002008071] | uncertain significance | 8 | 11548127 | 11548127 | Human | | name |
| 152134537 | CV1601392 | single nucleotide variant | NM_001715.3(BLK):c.175+7A>G | not provided [RCV002099936] | likely benign | 8 | 11546110 | 11546110 | Human | | name |
| 155741239 | CV1779886 | single nucleotide variant | NM_001715.3(BLK):c.473-7C>T | not specified [RCV002302490] | benign | 8 | 11554736 | 11554736 | Human | | name |
| 156392425 | CV1986408 | single nucleotide variant | NM_001715.3(BLK):c.175+4A>G | not provided [RCV002604795] | uncertain significance | 8 | 11546107 | 11546107 | Human | | name |
| 402499709 | CV2868163 | single nucleotide variant | NM_001715.3(BLK):c.369-9G>A | BLK-related disorder [RCV004750383]|not provided [RCV003545775] | likely benign | 8 | 11550150 | 11550150 | Human | 1 | name , trait , alternate_id |
| 402486693 | CV2928409 | single nucleotide variant | NM_001715.3(BLK):c.620-6A>C | not provided [RCV003572594] | likely benign | 8 | 11555326 | 11555326 | Human | | name |
| 408382703 | CV3503617 | single nucleotide variant | NM_001715.3(BLK):c.620-5T>G | BLK-related disorder [RCV004730096] | uncertain significance | 8 | 11555327 | 11555327 | Human | | name , trait , alternate_id |
| 408376536 | CV3514337 | single nucleotide variant | NM_001715.3(BLK):c.269+3G>A | BLK-related disorder [RCV004749209] | likely benign | 8 | 11548128 | 11548128 | Human | | name , trait , alternate_id |
| 597945308 | CV3807287 | single nucleotide variant | NM_001715.3(BLK):c.772+8T>C | not provided [RCV005159922] | likely benign | 8 | 11555492 | 11555492 | Human | | name |
| 15178457 | CV730531 | single nucleotide variant | NM_001715.3(BLK):c.473-7C>G | BLK-related disorder [RCV003940517]|Maturity-onset diabetes of the young type 11 [RCV001164843]|not provided [RCV000885066] | likely benign|conflicting interpretations of pathogenicity | 8 | 11554736 | 11554736 | Human | 1 | name , trait , alternate_id |
| 28868894 | CV900431 | single nucleotide variant | NM_001715.3(BLK):c.369-2A>G | Maturity-onset diabetes of the young type 11 [RCV001162773]|not provided [RCV003546669] | benign|likely benign | 8 | 11550157 | 11550157 | Human | 1 | name |
| 28910332 | CV900433 | single nucleotide variant | NM_001715.3(BLK):c.773-9C>T | Maturity-onset diabetes of the young type 11 [RCV001161334] | uncertain significance | 8 | 11556649 | 11556649 | Human | 1 | name |
| 150405766 | CV1176986 | single nucleotide variant | NM_001715.3(BLK):c.953-94G>A | not provided [RCV001545006] | likely benign | 8 | 11557868 | 11557868 | Human | | name |
| 150416621 | CV1180399 | single nucleotide variant | NM_001715.3(BLK):c.619+46C>T | not provided [RCV001549745] | likely benign | 8 | 11554935 | 11554935 | Human | | name |
| 150407633 | CV1182382 | single nucleotide variant | NM_001715.3(BLK):c.-1-105C>G | Maturity-onset diabetes of the young type 11 [RCV001554068]|Systemic lupus erythematosus [RCV002465886]|not provided [RCV001595107] | benign | 8 | 11543119 | 11543119 | Human | 3 | name |
| 150407640 | CV1182384 | single nucleotide variant | NM_001715.3(BLK):c.123+88G>T | Maturity-onset diabetes of the young type 11 [RCV001554070]|Systemic lupus erythematosus [RCV002464469]|not provided [RCV001647433] | benign | 8 | 11543435 | 11543435 | Human | 3 | name |
| 150405401 | CV1194007 | single nucleotide variant | NM_001715.3(BLK):c.953-87T>G | not provided [RCV001571611] | likely benign | 8 | 11557875 | 11557875 | Human | | name |
| 150418315 | CV1197747 | single nucleotide variant | NM_001715.3(BLK):c.619+44C>A | not provided [RCV001576689] | likely benign | 8 | 11554933 | 11554933 | Human | | name |
| 150443089 | CV1204812 | single nucleotide variant | NM_001715.3(BLK):c.773-40C>G | not provided [RCV001583919] | likely benign | 8 | 11556618 | 11556618 | Human | | name |
| 150461084 | CV1205860 | single nucleotide variant | NM_001715.3(BLK):c.175+31C>G | not provided [RCV001586817] | likely benign | 8 | 11546134 | 11546134 | Human | | name |
| 150483388 | CV1210124 | single nucleotide variant | NM_001715.3(BLK):c.270-34A>G | not provided [RCV001590823] | likely benign | 8 | 11548990 | 11548990 | Human | | name |
| 150463449 | CV1235057 | deletion | NM_001715.3(BLK):c.952+95del | not provided [RCV001649639] | benign | 8 | 11556932 | 11556932 | Human | | name |
| 150506223 | CV1242161 | single nucleotide variant | NM_001715.3(BLK):c.-1-254C>A | not provided [RCV001658514] | benign | 8 | 11542970 | 11542970 | Human | | name |
| 150456260 | CV1259987 | single nucleotide variant | NM_001715.3(BLK):c.-1-278T>G | not provided [RCV001681466] | benign | 8 | 11542946 | 11542946 | Human | | name |
| 152051765 | CV1523501 | single nucleotide variant | NM_001715.3(BLK):c.269+13G>C | Maturity-onset diabetes of the young type 11 [RCV002494295]|not provided [RCV002127333] | benign|likely benign | 8 | 11548138 | 11548138 | Human | 1 | name |
| 152038197 | CV1524127 | single nucleotide variant | NM_001715.3(BLK):c.472+20C>T | not provided [RCV002125686] | likely benign | 8 | 11550282 | 11550282 | Human | | name |
| 152147620 | CV1647327 | single nucleotide variant | NM_001715.3(BLK):c.124-19T>C | not provided [RCV002201471] | likely benign | 8 | 11546033 | 11546033 | Human | | name |
| 152143166 | CV1651438 | single nucleotide variant | NM_001715.3(BLK):c.952+12C>T | not provided [RCV002138433] | likely benign | 8 | 11556849 | 11556849 | Human | | name |
| 156141925 | CV1959749 | single nucleotide variant | NM_001715.3(BLK):c.269+18C>A | not provided [RCV002572602] | likely benign | 8 | 11548143 | 11548143 | Human | | name |
| 156152195 | CV1967489 | single nucleotide variant | NM_001715.3(BLK):c.952+12C>G | not provided [RCV002594181] | likely benign | 8 | 11556849 | 11556849 | Human | | name |
| 156137465 | CV2048187 | single nucleotide variant | NM_001715.3(BLK):c.772+17G>A | Maturity-onset diabetes of the young type 11 [RCV003111595]|not provided [RCV002800833] | benign | 8 | 11555501 | 11555501 | Human | 1 | name |
| 156157965 | CV2096729 | single nucleotide variant | NM_001715.3(BLK):c.953-14T>A | not provided [RCV002872550] | likely benign | 8 | 11557948 | 11557948 | Human | | name |
| 11544674 | CV253011 | single nucleotide variant | NM_001715.3(BLK):c.472+12G>A | Maturity-onset diabetes of the young type 11 [RCV000370532]|Systemic lupus erythematosus [RCV002465606]|not provided [RCV001582818]|not specified [RCV000244109] | benign|likely benign | 8 | 11550274 | 11550274 | Human | 3 | name |
| 11552510 | CV253012 | single nucleotide variant | NM_001715.3(BLK):c.772+16C>T | Maturity-onset diabetes of the young type 11 [RCV002494731]|not provided [RCV005055801]|not specified [RCV000254486] | likely benign | 8 | 11555500 | 11555500 | Human | 1 | name |
| 401925737 | CV2820893 | single nucleotide variant | NM_001715.3(BLK):c.952+46C>A | not provided [RCV003436735] | benign | 8 | 11556883 | 11556883 | Human | | name |
| 405177647 | CV3027469 | single nucleotide variant | NM_001715.3(BLK):c.175+18G>A | not provided [RCV003705238] | likely benign | 8 | 11546121 | 11546121 | Human | | name |
| 405138282 | CV3125378 | single nucleotide variant | NM_001715.3(BLK):c.368+15G>A | not provided [RCV003816485] | likely benign | 8 | 11549137 | 11549137 | Human | | name |
| 405080496 | CV3166780 | single nucleotide variant | NM_001715.3(BLK):c.1030-9T>C | not provided [RCV003851554] | likely benign | 8 | 11561293 | 11561293 | Human | | name |
| 405263553 | CV3189740 | single nucleotide variant | NM_001715.3(BLK):c.1029+7G>A | BLK-related disorder [RCV003896789] | likely benign | 8 | 11558045 | 11558045 | Human | | name , trait , alternate_id |
| 405267627 | CV3219368 | deletion | NM_001715.3(BLK):c.1313-8del | BLK-related disorder [RCV003969615] | likely benign | 8 | 11563895 | 11563895 | Human | | name , trait , alternate_id |
| 597916401 | CV3737406 | single nucleotide variant | NM_001715.3(BLK):c.952+20C>T | not provided [RCV005074195] | likely benign | 8 | 11556857 | 11556857 | Human | | name |
| 597906449 | CV3738761 | single nucleotide variant | NM_001715.3(BLK):c.772+11G>A | not provided [RCV005072996] | likely benign | 8 | 11555495 | 11555495 | Human | | name |
| 597836272 | CV3739837 | single nucleotide variant | NM_001715.3(BLK):c.269+13G>T | not provided [RCV005064057] | likely benign | 8 | 11548138 | 11548138 | Human | | name |
| 597878243 | CV3744351 | single nucleotide variant | NM_001715.3(BLK):c.619+11G>A | not provided [RCV005069565] | likely benign | 8 | 11554900 | 11554900 | Human | | name |
| 597926745 | CV3748939 | single nucleotide variant | NM_001715.3(BLK):c.619+12C>T | not provided [RCV005075395] | likely benign | 8 | 11554901 | 11554901 | Human | | name |
| 597858806 | CV3769675 | single nucleotide variant | NM_001715.3(BLK):c.1181-4A>G | not provided [RCV005105718] | likely benign | 8 | 11562975 | 11562975 | Human | | name |
| 597927550 | CV3788694 | single nucleotide variant | NM_001715.3(BLK):c.773-11C>T | not provided [RCV005131172] | likely benign | 8 | 11556647 | 11556647 | Human | | name |
| 597947624 | CV3817920 | single nucleotide variant | NM_001715.3(BLK):c.368+10C>T | not provided [RCV005160387] | likely benign | 8 | 11549132 | 11549132 | Human | | name |
| 597913569 | CV3833812 | single nucleotide variant | NM_001715.3(BLK):c.1181-1G>A | not provided [RCV005183171] | uncertain significance | 8 | 11562978 | 11562978 | Human | | name |
| 13215399 | CV428754 | single nucleotide variant | NM_001715.3(BLK):c.369-10C>T | not provided [RCV000899926]|not specified [RCV000502464] | likely benign|uncertain significance | 8 | 11550149 | 11550149 | Human | | name |
| 28868892 | CV900430 | single nucleotide variant | NM_001715.3(BLK):c.368+13G>A | Maturity-onset diabetes of the young type 11 [RCV001162772]|not provided [RCV002557389] | likely benign | 8 | 11549135 | 11549135 | Human | 1 | name |
| 28908123 | CV900432 | single nucleotide variant | NM_001715.3(BLK):c.620-11C>T | Maturity-onset diabetes of the young type 11 [RCV001159937]|not provided [RCV005056961] | likely benign|uncertain significance | 8 | 11555321 | 11555321 | Human | 1 | name |
| 150331602 | CV1171802 | single nucleotide variant | NM_001715.3(BLK):c.368+184T>C | not provided [RCV001538699] | benign | 8 | 11549306 | 11549306 | Human | | name |
| 150334465 | CV1171803 | single nucleotide variant | NM_001715.3(BLK):c.1029+25A>G | not provided [RCV001540061] | benign | 8 | 11558063 | 11558063 | Human | | name |
| 150419528 | CV1180397 | single nucleotide variant | NM_001715.3(BLK):c.175+153G>A | not provided [RCV001551103] | likely benign | 8 | 11546256 | 11546256 | Human | | name |
| 150422032 | CV1180398 | single nucleotide variant | NM_001715.3(BLK):c.269+231C>T | not provided [RCV001552292] | likely benign | 8 | 11548356 | 11548356 | Human | | name |
| 150420899 | CV1180400 | single nucleotide variant | NM_001715.3(BLK):c.953-226G>T | not provided [RCV001551765] | likely benign | 8 | 11557736 | 11557736 | Human | | name |
| 150407643 | CV1182385 | single nucleotide variant | NM_001715.3(BLK):c.176-104G>A | Maturity-onset diabetes of the young type 11 [RCV001554071]|Systemic lupus erythematosus [RCV002464470]|not provided [RCV001713133] | benign | 8 | 11547928 | 11547928 | Human | 3 | name |
| 150407646 | CV1182386 | single nucleotide variant | NM_001715.3(BLK):c.1030-38C>T | Maturity-onset diabetes of the young type 11 [RCV001554072]|Systemic lupus erythematosus [RCV002465887]|not provided [RCV001685517] | benign | 8 | 11561264 | 11561264 | Human | 3 | name |
| 150407923 | CV1182387 | single nucleotide variant | NM_001715.3(BLK):c.1313-28C>T | Maturity-onset diabetes of the young type 11 [RCV001554231]|Systemic lupus erythematosus [RCV002465888]|not provided [RCV001713045] | benign | 8 | 11563875 | 11563875 | Human | 3 | name |
| 150419461 | CV1194006 | single nucleotide variant | NM_001715.3(BLK):c.472+333C>T | not provided [RCV001569698] | likely benign | 8 | 11550595 | 11550595 | Human | | name |
| 150448249 | CV1202005 | single nucleotide variant | NM_001715.3(BLK):c.269+183G>A | not provided [RCV001584875] | likely benign | 8 | 11548308 | 11548308 | Human | | name |
| 150486212 | CV1203263 | single nucleotide variant | NM_001715.3(BLK):c.369-175G>A | not provided [RCV001591441] | likely benign | 8 | 11549984 | 11549984 | Human | | name |
| 150433058 | CV1203530 | single nucleotide variant | NM_001715.3(BLK):c.772+216G>A | not provided [RCV001581685] | likely benign | 8 | 11555700 | 11555700 | Human | | name |
| 150443817 | CV1205179 | single nucleotide variant | NM_001715.3(BLK):c.472+163T>C | not provided [RCV001584022] | likely benign | 8 | 11550425 | 11550425 | Human | | name |
| 150453972 | CV1205721 | single nucleotide variant | NM_001715.3(BLK):c.953-195G>A | not provided [RCV001585622] | likely benign | 8 | 11557767 | 11557767 | Human | | name |
| 150496201 | CV1206007 | single nucleotide variant | NM_001715.3(BLK):c.473-209C>T | not provided [RCV001593689] | likely benign | 8 | 11554534 | 11554534 | Human | | name |
| 150489515 | CV1208454 | single nucleotide variant | NM_001715.3(BLK):c.175+154G>C | not provided [RCV001592315] | likely benign | 8 | 11546257 | 11546257 | Human | | name |
| 150466536 | CV1218206 | single nucleotide variant | NM_001715.3(BLK):c.1180+64G>C | not provided [RCV001614332] | benign | 8 | 11561516 | 11561516 | Human | | name |
| 150467681 | CV1220057 | single nucleotide variant | NM_001715.3(BLK):c.270-176G>A | not provided [RCV001614548] | benign | 8 | 11548848 | 11548848 | Human | | name |
| 150439848 | CV1221366 | single nucleotide variant | NM_001715.3(BLK):c.773-274C>T | not provided [RCV001610061] | benign | 8 | 11556384 | 11556384 | Human | | name |
| 150501334 | CV1223678 | single nucleotide variant | NM_001715.3(BLK):c.472+271G>A | not provided [RCV001620799] | benign | 8 | 11550533 | 11550533 | Human | | name |
| 150504350 | CV1223932 | single nucleotide variant | NM_001715.3(BLK):c.1030-45G>A | not provided [RCV001621581] | benign | 8 | 11561257 | 11561257 | Human | | name |
| 150492038 | CV1225402 | single nucleotide variant | NM_001715.3(BLK):c.123+260G>A | not provided [RCV001618917] | benign | 8 | 11543607 | 11543607 | Human | | name |
| 150508075 | CV1227050 | single nucleotide variant | NM_001715.3(BLK):c.176-205C>T | not provided [RCV001636123] | benign | 8 | 11547827 | 11547827 | Human | | name |
| 150430950 | CV1231105 | single nucleotide variant | NM_001715.3(BLK):c.176-200C>A | not provided [RCV001641654] | benign | 8 | 11547832 | 11547832 | Human | | name |
| 150432985 | CV1231622 | single nucleotide variant | NM_001715.3(BLK):c.473-188A>C | not provided [RCV001643284] | benign | 8 | 11554555 | 11554555 | Human | | name |
| 150462515 | CV1234924 | single nucleotide variant | NM_001715.3(BLK):c.472+314T>G | not provided [RCV001649506] | benign | 8 | 11550576 | 11550576 | Human | | name |
| 150469350 | CV1243143 | single nucleotide variant | NM_001715.3(BLK):c.1029+50C>T | not provided [RCV001650662] | benign | 8 | 11558088 | 11558088 | Human | | name |
| 150483940 | CV1247036 | single nucleotide variant | NM_001715.3(BLK):c.1313-91T>C | not provided [RCV001673532] | benign | 8 | 11563812 | 11563812 | Human | | name |
| 150439274 | CV1247698 | single nucleotide variant | NM_001715.3(BLK):c.1313-54C>A | not provided [RCV001666065] | benign | 8 | 11563849 | 11563849 | Human | | name |
| 150442613 | CV1249146 | single nucleotide variant | NM_001715.3(BLK):c.368+269T>C | not provided [RCV001666578] | benign | 8 | 11549391 | 11549391 | Human | | name |
| 150493875 | CV1257645 | single nucleotide variant | NM_001715.3(BLK):c.124-193G>A | not provided [RCV001675318] | benign | 8 | 11545859 | 11545859 | Human | | name |
| 150444751 | CV1258564 | single nucleotide variant | NM_001715.3(BLK):c.953-287C>G | not provided [RCV001679762] | benign | 8 | 11557675 | 11557675 | Human | | name |
| 150447389 | CV1261812 | single nucleotide variant | NM_001715.3(BLK):c.269+218C>A | not provided [RCV001680196] | benign | 8 | 11548343 | 11548343 | Human | | name |
| 150485834 | CV1262176 | single nucleotide variant | NM_001715.3(BLK):c.176-292G>A | not provided [RCV001686867] | benign | 8 | 11547740 | 11547740 | Human | | name |
| 150483923 | CV1263072 | single nucleotide variant | NM_001715.3(BLK):c.270-125G>A | not provided [RCV001686472] | benign | 8 | 11548899 | 11548899 | Human | | name |
| 150440266 | CV1266890 | single nucleotide variant | NM_001715.3(BLK):c.176-167T>G | not provided [RCV001690326] | benign | 8 | 11547865 | 11547865 | Human | | name |
| 150489767 | CV1267500 | single nucleotide variant | NM_001715.3(BLK):c.1312+25C>G | not provided [RCV001687524] | benign | 8 | 11563135 | 11563135 | Human | | name |
| 150490317 | CV1267589 | single nucleotide variant | NM_001715.3(BLK):c.472+340G>C | not provided [RCV001687613] | benign | 8 | 11550602 | 11550602 | Human | | name |
| 150448656 | CV1270493 | single nucleotide variant | NM_001715.3(BLK):c.772+199T>C | not provided [RCV001691631] | benign | 8 | 11555683 | 11555683 | Human | 3 | name |
| 150448656 | CV1270493 | single nucleotide variant | NM_001715.3(BLK):c.772+199T>C | not provided [RCV001691631] | benign | 8 | 11555683 | 11555684 | Human | 3 | name |
| 150495722 | CV1272703 | single nucleotide variant | NM_001715.3(BLK):c.772+140C>T | not provided [RCV001688626] | benign | 8 | 11555624 | 11555624 | Human | | name |
| 150449637 | CV1273659 | single nucleotide variant | NM_001715.3(BLK):c.123+255G>A | not provided [RCV001691759] | benign | 8 | 11543602 | 11543602 | Human | | name |
| 150461664 | CV1275983 | single nucleotide variant | NM_001715.3(BLK):c.270-291C>A | not provided [RCV001709921] | benign | 8 | 11548733 | 11548733 | Human | | name |
| 150480014 | CV1282462 | single nucleotide variant | NM_001715.3(BLK):c.773-154G>C | not provided [RCV001714564] | benign | 8 | 11556504 | 11556504 | Human | | name |
| 150499075 | CV1282482 | single nucleotide variant | NM_001715.3(BLK):c.175+157C>G | not provided [RCV001718128] | benign | 8 | 11546260 | 11546260 | Human | | name |
| 401925738 | CV2820892 | single nucleotide variant | NM_001715.3(BLK):c.772+341C>G | not provided [RCV003436734] | benign | 8 | 11555825 | 11555825 | Human | | name |
| 405226814 | CV3039486 | single nucleotide variant | NM_001715.3(BLK):c.1312+16C>T | not provided [RCV003710846] | likely benign | 8 | 11563126 | 11563126 | Human | | name |
| 405152820 | CV3123408 | single nucleotide variant | NM_001715.3(BLK):c.1180+11C>T | not provided [RCV003817641] | likely benign | 8 | 11561463 | 11561463 | Human | | name |
| 405246350 | CV3162294 | single nucleotide variant | NM_001715.3(BLK):c.1180+18C>T | not provided [RCV003868813] | likely benign | 8 | 11561470 | 11561470 | Human | | name |
| 8632804 | CV88019 | single nucleotide variant | NM_001715.2(BLK):c.1030-73G>A | Malignant melanoma [RCV000068111] | not provided | 8 | 11561229 | 11561229 | Human | | name |
| 150427034 | CV1187301 | single nucleotide variant | NM_001715.3(BLK):c.1030-151G>T | not provided [RCV001560381] | likely benign | 8 | 11561151 | 11561151 | Human | | name |
| 150426268 | CV1187302 | single nucleotide variant | NM_001715.3(BLK):c.1312+160C>T | not provided [RCV001559355] | likely benign | 8 | 11563270 | 11563270 | Human | | name |
| 150453487 | CV1205653 | single nucleotide variant | NM_001715.3(BLK):c.1181-264C>T | not provided [RCV001585554] | likely benign | 8 | 11562715 | 11562715 | Human | | name |
| 150448115 | CV1216220 | single nucleotide variant | NM_001715.3(BLK):c.1030-133T>C | not provided [RCV001611518] | benign | 8 | 11561169 | 11561169 | Human | | name |
| 150483344 | CV1223574 | single nucleotide variant | NM_001715.3(BLK):c.1181-193T>C | not provided [RCV001617288] | benign | 8 | 11562786 | 11562786 | Human | | name |
| 150506306 | CV1226314 | single nucleotide variant | NM_001715.3(BLK):c.1029+247T>A | not provided [RCV001635682] | benign | 8 | 11558285 | 11558285 | Human | | name |
| 150492547 | CV1238499 | single nucleotide variant | NM_001715.3(BLK):c.1312+311C>A | not provided [RCV001655043] | benign | 8 | 11563421 | 11563421 | Human | | name |
| 150511003 | CV1242573 | single nucleotide variant | NM_001715.3(BLK):c.1313-158C>T | not provided [RCV001660925] | benign | 8 | 11563745 | 11563745 | Human | | name |
| 150451388 | CV1254820 | single nucleotide variant | NM_001715.3(BLK):c.1029+265C>T | not provided [RCV001667879] | benign | 8 | 11558303 | 11558303 | Human | | name |
| 150442275 | CV1264406 | single nucleotide variant | NM_001715.3(BLK):c.1181-267G>A | not provided [RCV001679389] | benign | 8 | 11562712 | 11562712 | Human | | name |
| 150508736 | CV1284356 | single nucleotide variant | NM_001715.3(BLK):c.1312+279G>A | not provided [RCV001720464] | benign | 8 | 11563389 | 11563389 | Human | | name |
| 152058392 | CV1567501 | single nucleotide variant | NM_001715.3(BLK):c.27G>A (p.Pro9=) | Maturity-onset diabetes of the young type 11 [RCV002500329]|not provided [RCV002146501] | likely benign | 8 | 11543251 | 11543251 | Human | 1 | name |
| 28907942 | CV898752 | single nucleotide variant | NM_001715.3(BLK):c.18C>T (p.Ser6=) | Maturity-onset diabetes of the young type 11 [RCV001159820]|not provided [RCV005093673] | likely benign | 8 | 11543242 | 11543242 | Human | 1 | name |
| 126746211 | CV1016988 | single nucleotide variant | NM_001715.3(BLK):c.84C>A (p.Val28=) | Maturity-onset diabetes of the young type 11 [RCV001330830] | uncertain significance | 8 | 11543308 | 11543308 | Human | 1 | name |
| 150481897 | CV1209871 | single nucleotide variant | NM_001715.3(BLK):c.81G>A (p.Lys27=) | not provided [RCV001590569] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 11543305 | 11543305 | Human | | name |
| 11550712 | CV253009 | single nucleotide variant | NM_001715.3(BLK):c.39G>A (p.Lys13=) | Maturity-onset diabetes of the young type 11 [RCV001161219]|Systemic lupus erythematosus [RCV002464153]|not provided [RCV000886671]|not specified [RCV000252110] | benign | 8 | 11543263 | 11543263 | Human | 3 | name |
| 405003207 | CV3184450 | single nucleotide variant | NM_001715.3(BLK):c.8T>C (p.Leu3Pro) | not provided [RCV003882748] | uncertain significance | 8 | 11543232 | 11543232 | Human | | name |
| 405265987 | CV3221021 | single nucleotide variant | NM_001715.3(BLK):c.72C>T (p.Ser24=) | BLK-related disorder [RCV003969157] | likely benign | 8 | 11543296 | 11543296 | Human | | name , trait , alternate_id |
| 597945056 | CV3844151 | single nucleotide variant | NM_001715.3(BLK):c.5G>T (p.Gly2Val) | not provided [RCV005188760] | uncertain significance | 8 | 11543229 | 11543229 | Human | | name |
| 597964729 | CV3848149 | single nucleotide variant | NM_001715.3(BLK):c.42G>A (p.Pro14=) | not provided [RCV005194028] | likely benign | 8 | 11543266 | 11543266 | Human | | name |
| 28910204 | CV898753 | single nucleotide variant | NM_001715.3(BLK):c.93A>G (p.Gln31=) | Maturity-onset diabetes of the young type 11 [RCV001161220] | likely benign | 8 | 11543317 | 11543317 | Human | 1 | name |
| 150409317 | CV1176985 | single nucleotide variant | NM_001715.3(BLK):c.126T>C (p.Val42=) | not provided [RCV001546208] | likely benign | 8 | 11546054 | 11546054 | Human | | name |
| 8659100 | CV133974 | single nucleotide variant | NM_001715.3(BLK):c.102C>T (p.Asp34=) | Maturity-onset diabetes of the young type 11 [RCV000274248]|Systemic lupus erythematosus [RCV002464110]|not provided [RCV000887414]|not specified [RCV000116495] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 11543326 | 11543326 | Human | 3 | name |
| 8659101 | CV133975 | single nucleotide variant | NM_001715.3(BLK):c.258G>A (p.Gln86=) | Maturity-onset diabetes of the young type 11 [RCV000340113]|Systemic lupus erythematosus [RCV002464111]|not provided [RCV000956560]|not specified [RCV000116497] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 11548114 | 11548114 | Human | 3 | name |
| 151739666 | CV1381882 | single nucleotide variant | NM_001715.3(BLK):c.10G>T (p.Val4Leu) | not provided [RCV001968019] | uncertain significance | 8 | 11543234 | 11543234 | Human | | name |
| 151721795 | CV1419745 | single nucleotide variant | NM_001715.3(BLK):c.108G>A (p.Pro36=) | not provided [RCV001983196] | likely benign | 8 | 11543332 | 11543332 | Human | | name |
| 156415678 | CV1955569 | single nucleotide variant | NM_001715.3(BLK):c.14G>A (p.Ser5Asn) | not provided [RCV002589304] | uncertain significance | 8 | 11543238 | 11543238 | Human | | name |
| 156324008 | CV2101275 | single nucleotide variant | NM_001715.3(BLK):c.132C>T (p.Phe44=) | not provided [RCV002899497] | likely benign | 8 | 11546060 | 11546060 | Human | | name |
| 402477002 | CV2914189 | single nucleotide variant | NM_001715.3(BLK):c.26C>T (p.Pro9Leu) | BLK-related disorder [RCV004750398]|not provided [RCV003571592] | likely benign|uncertain significance | 8 | 11543250 | 11543250 | Human | 1 | name , trait , alternate_id |
| 405211712 | CV3059132 | single nucleotide variant | NM_001715.3(BLK):c.129C>T (p.Val43=) | not provided [RCV003732027] | likely benign | 8 | 11546057 | 11546057 | Human | | name |
| 11610633 | CV312599 | single nucleotide variant | NM_001715.3(BLK):c.153G>A (p.Pro51=) | Maturity-onset diabetes of the young type 11 [RCV000383958] | uncertain significance | 8 | 11546081 | 11546081 | Human | 1 | name |
| 597836016 | CV3739764 | single nucleotide variant | NM_001715.3(BLK):c.186C>T (p.Phe62=) | not provided [RCV005063984] | likely benign | 8 | 11548042 | 11548042 | Human | | name |
| 597865744 | CV3742389 | single nucleotide variant | NM_001715.3(BLK):c.16A>G (p.Ser6Gly) | not provided [RCV005068005] | uncertain significance | 8 | 11543240 | 11543240 | Human | | name |
| 28910206 | CV898754 | single nucleotide variant | NM_001715.3(BLK):c.129C>A (p.Val43=) | Maturity-onset diabetes of the young type 11 [RCV001161221] | uncertain significance | 8 | 11546057 | 11546057 | Human | 1 | name |
| 150432470 | CV1200656 | single nucleotide variant | NM_001715.3(BLK):c.477C>T (p.Ala159=) | not provided [RCV001581379] | likely benign | 8 | 11554747 | 11554747 | Human | | name |
| 151353744 | CV1327296 | single nucleotide variant | NM_001715.3(BLK):c.630T>C (p.Asp210=) | not specified [RCV001817240] | likely benign | 8 | 11555342 | 11555342 | Human | | name |
| 151356136 | CV1328900 | single nucleotide variant | NM_001715.3(BLK):c.738A>G (p.Lys246=) | not specified [RCV001822489] | likely benign | 8 | 11555450 | 11555450 | Human | | name |
| 8659102 | CV133976 | single nucleotide variant | NM_001715.3(BLK):c.330T>C (p.Ser110=) | Maturity-onset diabetes of the young type 11 [RCV000281850]|Systemic lupus erythematosus [RCV002226663]|not provided [RCV001515803]|not specified [RCV000116498] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 11549084 | 11549084 | Human | 3 | name |
| 8659103 | CV133977 | single nucleotide variant | NM_001715.3(BLK):c.435C>T (p.Ala145=) | Maturity-onset diabetes of the young type 11 [RCV000297173]|Systemic lupus erythematosus [RCV002465523]|not provided [RCV000956562]|not specified [RCV000116499] | benign|likely benign | 8 | 11550225 | 11550225 | Human | 3 | name |
| 8659104 | CV133978 | single nucleotide variant | NM_001715.3(BLK):c.843T>C (p.Phe281=) | Maturity-onset diabetes of the young type 11 [RCV000323110]|not provided [RCV001515804]|not specified [RCV000116500] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 11556728 | 11556728 | Human | 1 | name |
| 152101861 | CV1611065 | single nucleotide variant | NM_001715.3(BLK):c.336T>C (p.Phe112=) | not provided [RCV002133371] | likely benign | 8 | 11549090 | 11549090 | Human | | name |
| 152045119 | CV1614109 | single nucleotide variant | NM_001715.3(BLK):c.675G>A (p.Pro225=) | Maturity-onset diabetes of the young type 11 [RCV002494493]|not provided [RCV002166188] | likely benign | 8 | 11555387 | 11555387 | Human | 1 | name |
| 152165328 | CV1654490 | single nucleotide variant | NM_001715.3(BLK):c.591G>T (p.Ser197=) | Maturity-onset diabetes of the young type 11 [RCV002500402]|not provided [RCV002181713] | likely benign | 8 | 11554861 | 11554861 | Human | 1 | name |
| 152147407 | CV1656136 | single nucleotide variant | NM_001715.3(BLK):c.795G>A (p.Lys265=) | not provided [RCV002220264] | likely benign | 8 | 11556680 | 11556680 | Human | | name |
| 155966146 | CV1892133 | single nucleotide variant | NM_001715.3(BLK):c.351G>A (p.Glu117=) | BLK-related disorder [RCV003943750]|not provided [RCV003074940] | likely benign | 8 | 11549105 | 11549105 | Human | 1 | name , trait , alternate_id |
| 155961112 | CV1936533 | single nucleotide variant | NM_001715.3(BLK):c.447T>C (p.Leu149=) | not provided [RCV002512350] | likely benign | 8 | 11550237 | 11550237 | Human | | name |
| 156447139 | CV1944780 | single nucleotide variant | NM_001715.3(BLK):c.900C>T (p.Tyr300=) | not provided [RCV003118666] | likely benign | 8 | 11556785 | 11556785 | Human | | name |
| 155910117 | CV2069314 | single nucleotide variant | NM_001715.3(BLK):c.994T>C (p.Leu332=) | not provided [RCV002837644] | likely benign | 8 | 11558003 | 11558003 | Human | | name |
| 156262153 | CV2143364 | single nucleotide variant | NM_001715.3(BLK):c.396G>A (p.Lys132=) | not provided [RCV003008961] | likely benign | 8 | 11550186 | 11550186 | Human | | name |
| 401829303 | CV2747353 | single nucleotide variant | NM_001715.3(BLK):c.471A>G (p.Lys157=) | not provided [RCV003328818] | uncertain significance | 8 | 11550261 | 11550261 | Human | | name |
| 401925741 | CV2820889 | single nucleotide variant | NM_001715.3(BLK):c.465C>A (p.Thr155=) | not provided [RCV003436731] | likely benign | 8 | 11550255 | 11550255 | Human | | name |
| 401925739 | CV2820891 | single nucleotide variant | NM_001715.3(BLK):c.669G>A (p.Pro223=) | not provided [RCV003436733] | likely benign|conflicting interpretations of pathogenicity | 8 | 11555381 | 11555381 | Human | | name |
| 405166437 | CV2857594 | single nucleotide variant | NM_001715.3(BLK):c.88G>A (p.Ala30Thr) | not provided [RCV003541823] | uncertain significance | 8 | 11543312 | 11543312 | Human | | name |
| 405070642 | CV2876474 | single nucleotide variant | NM_001715.3(BLK):c.690C>T (p.Ala230=) | not provided [RCV003548510] | likely benign | 8 | 11555402 | 11555402 | Human | | name |
| 405124104 | CV2889494 | single nucleotide variant | NM_001715.3(BLK):c.555G>C (p.Gly185=) | not provided [RCV003559400] | likely benign | 8 | 11554825 | 11554825 | Human | | name |
| 11592242 | CV304004 | single nucleotide variant | NM_001715.3(BLK):c.391C>A (p.Arg131=) | Maturity-onset diabetes of the young type 11 [RCV000336757]|not provided [RCV000956561]|not specified [RCV001796017] | benign|likely benign | 8 | 11550181 | 11550181 | Human | 1 | name |
| 11596049 | CV304006 | single nucleotide variant | NM_001715.3(BLK):c.879C>T (p.His293=) | Maturity-onset diabetes of the young type 11 [RCV000377639]|Systemic lupus erythematosus [RCV002465637]|not provided [RCV001563175]|not specified [RCV001821099] | benign|likely benign | 8 | 11556764 | 11556764 | Human | 3 | name |
| 11609377 | CV307596 | single nucleotide variant | NM_001715.3(BLK):c.639C>T (p.Cys213=) | Maturity-onset diabetes of the young type 11 [RCV000367201]|not provided [RCV004696049] | uncertain significance | 8 | 11555351 | 11555351 | Human | 1 | name |
| 11599749 | CV307598 | single nucleotide variant | NM_001715.3(BLK):c.753A>G (p.Gln251=) | Maturity-onset diabetes of the young type 11 [RCV000267993]|Systemic lupus erythematosus [RCV002465636]|not provided [RCV001549823]|not specified [RCV001821098] | benign|likely benign | 8 | 11555465 | 11555465 | Human | 3 | name |
| 405135535 | CV3115670 | single nucleotide variant | NM_001715.3(BLK):c.408G>A (p.Arg136=) | not provided [RCV003816327] | likely benign | 8 | 11550198 | 11550198 | Human | | name |
| 11610868 | CV312598 | single nucleotide variant | NM_001715.3(BLK):c.41C>T (p.Pro14Leu) | Maturity onset diabetes mellitus in young [RCV000387495] | uncertain significance | 8 | 11543265 | 11543265 | Human | 1 | name |
| 11606115 | CV312634 | single nucleotide variant | NM_001715.3(BLK):c.711C>T (p.Pro237=) | BLK-related disorder [RCV003902413]|Maturity-onset diabetes of the young type 11 [RCV000327887]|Systemic lupus erythematosus [RCV002465635]|not provided [RCV000892392] | benign|likely benign | 8 | 11555423 | 11555423 | Human | 3 | name , trait , alternate_id |
| 11600337 | CV312725 | single nucleotide variant | NM_001715.3(BLK):c.672C>T (p.Ala224=) | Maturity-onset diabetes of the young type 11 [RCV000272839]|Systemic lupus erythematosus [RCV002465634]|not provided [RCV001559550] | likely risk allele|benign|likely benign | 8 | 11555384 | 11555384 | Human | 3 | name |
| 402518331 | CV3135986 | single nucleotide variant | NM_001715.3(BLK):c.741C>T (p.Leu247=) | not provided [RCV003824612] | likely benign | 8 | 11555453 | 11555453 | Human | | name |
| 405269358 | CV3201556 | single nucleotide variant | NM_001715.3(BLK):c.546G>C (p.Leu182=) | BLK-related disorder [RCV003899469] | likely benign | 8 | 11554816 | 11554816 | Human | | name , trait , alternate_id |
| 405270814 | CV3212155 | single nucleotide variant | NM_001715.3(BLK):c.759C>T (p.Gly253=) | BLK-related disorder [RCV003949521]|not specified [RCV005301418] | likely benign | 8 | 11555471 | 11555471 | Human | 1 | name , trait , alternate_id |
| 596945447 | CV3547914 | single nucleotide variant | NM_001715.3(BLK):c.579C>T (p.Ile193=) | not provided [RCV004809245] | likely benign | 8 | 11554849 | 11554849 | Human | | name |
| 597955188 | CV3754168 | single nucleotide variant | NM_001715.3(BLK):c.684C>T (p.Pro228=) | not provided [RCV005080211] | likely benign | 8 | 11555396 | 11555396 | Human | | name |
| 597955539 | CV3754429 | single nucleotide variant | NM_001715.3(BLK):c.852G>A (p.Glu284=) | not provided [RCV005080279] | likely benign | 8 | 11556737 | 11556737 | Human | | name |
| 597890102 | CV3804924 | single nucleotide variant | NM_001715.3(BLK):c.894A>G (p.Arg298=) | not provided [RCV005151186] | likely benign | 8 | 11556779 | 11556779 | Human | | name |
| 597895928 | CV3810469 | single nucleotide variant | NM_001715.3(BLK):c.456G>A (p.Glu152=) | not provided [RCV005151994] | likely benign | 8 | 11550246 | 11550246 | Human | | name |
| 597920387 | CV3842733 | single nucleotide variant | NM_001715.3(BLK):c.381A>G (p.Arg127=) | not provided [RCV005184218] | likely benign | 8 | 11550171 | 11550171 | Human | | name |
| 598190824 | CV4008885 | duplication | NM_001715.3(BLK):c.247dup (p.Glu83fs) | Maturity-onset diabetes of the young type 11 [RCV005396386] | uncertain significance | 8 | 11548098 | 11548099 | Human | 1 | name |
| 13703997 | CV540008 | single nucleotide variant | NM_001715.3(BLK):c.67T>C (p.Trp23Arg) | Maturity-onset diabetes of the young type 11 [RCV002485512]|Monogenic diabetes [RCV000664118]|not provided [RCV003117463] | uncertain significance | 8 | 11543291 | 11543291 | Human | 2 | name |
| 28873356 | CV898755 | single nucleotide variant | NM_001715.3(BLK):c.465C>G (p.Thr155=) | Maturity-onset diabetes of the young type 11 [RCV001164842]|not provided [RCV005093685] | likely benign | 8 | 11550255 | 11550255 | Human | 1 | name |
| 28910334 | CV898758 | single nucleotide variant | NM_001715.3(BLK):c.810G>A (p.Thr270=) | Maturity-onset diabetes of the young type 11 [RCV001161335] | uncertain significance | 8 | 11556695 | 11556695 | Human | 1 | name |
| 150555551 | CV1304695 | duplication | NM_001715.3(BLK):c.712dup (p.Arg238fs) | not provided [RCV001772943] | uncertain significance | 8 | 11555419 | 11555420 | Human | | name |
| 150555686 | CV1304841 | single nucleotide variant | NM_001715.3(BLK):c.121C>G (p.Leu41Val) | not provided [RCV001773089] | uncertain significance | 8 | 11543345 | 11543345 | Human | | name |
| 151233598 | CV1317888 | single nucleotide variant | NM_001715.3(BLK):c.139C>T (p.Leu47Phe) | not provided [RCV001787655] | uncertain significance | 8 | 11546067 | 11546067 | Human | | name |
| 8657497 | CV133973 | single nucleotide variant | NM_001715.3(BLK):c.139C>G (p.Leu47Val) | Maturity-onset diabetes of the young type 11 [RCV002490786]|not provided [RCV000116494] | uncertain significance | 8 | 11546067 | 11546067 | Human | 1 | name |
| 151812583 | CV1343555 | single nucleotide variant | NM_001715.3(BLK):c.1128T>A (p.Ile376=) | not provided [RCV001918758] | likely benign|uncertain significance | 8 | 11561400 | 11561400 | Human | | name |
| 151818748 | CV1435772 | single nucleotide variant | NM_001715.3(BLK):c.157G>A (p.Asp53Asn) | not provided [RCV001933935] | uncertain significance | 8 | 11546085 | 11546085 | Human | | name |
| 151892439 | CV1481090 | single nucleotide variant | NM_001715.3(BLK):c.203A>T (p.Asp68Val) | not provided [RCV001944113] | uncertain significance | 8 | 11548059 | 11548059 | Human | | name |
| 151710761 | CV1500739 | single nucleotide variant | NM_001715.3(BLK):c.244G>C (p.Gly82Arg) | not provided [RCV002001913] | uncertain significance | 8 | 11548100 | 11548100 | Human | | name |
| 152075619 | CV1629479 | single nucleotide variant | NM_001715.3(BLK):c.1338C>G (p.Arg446=) | BLK-related disorder [RCV003933549]|Maturity-onset diabetes of the young type 11 [RCV002486931]|not provided [RCV002130176] | benign|likely benign | 8 | 11563928 | 11563928 | Human | 1 | name , trait , alternate_id |
| 152173092 | CV1641835 | single nucleotide variant | NM_001715.3(BLK):c.1371C>T (p.Pro457=) | Maturity-onset diabetes of the young type 11 [RCV002496099]|not provided [RCV002184060] | likely benign | 8 | 11563961 | 11563961 | Human | 1 | name |
| 156412676 | CV1904543 | single nucleotide variant | NM_001715.3(BLK):c.1227C>T (p.Phe409=) | not provided [RCV002587907] | benign | 8 | 11563025 | 11563025 | Human | | name |
| 156234634 | CV1976806 | single nucleotide variant | NM_001715.3(BLK):c.143C>G (p.Thr48Ser) | not provided [RCV002596932] | uncertain significance | 8 | 11546071 | 11546071 | Human | | name |
| 156066813 | CV2065608 | single nucleotide variant | NM_001715.3(BLK):c.1440G>T (p.Arg480=) | not provided [RCV002846950] | likely benign | 8 | 11564030 | 11564030 | Human | | name |
| 156316932 | CV2140367 | single nucleotide variant | NM_001715.3(BLK):c.1422C>T (p.Arg474=) | not provided [RCV003011444] | likely benign | 8 | 11564012 | 11564012 | Human | | name |
| 11543282 | CV253010 | single nucleotide variant | NM_001715.3(BLK):c.116C>T (p.Pro39Leu) | Maturity-onset diabetes of the young type 11 [RCV000329303]|Systemic lupus erythematosus [RCV000758180]|not provided [RCV000963045]|not specified [RCV000242255] | benign|likely benign | 8 | 11543340 | 11543340 | Human | 3 | name |
| 11546740 | CV253017 | single nucleotide variant | NM_001715.3(BLK):c.1302G>A (p.Val434=) | Maturity-onset diabetes of the young type 11 [RCV001164966]|not provided [RCV001589249]|not specified [RCV000246851] | likely benign | 8 | 11563100 | 11563100 | Human | 1 | name |
| 8563044 | CV27358 | single nucleotide variant | NM_001715.3(BLK):c.211G>A (p.Ala71Thr) | Maturity-onset diabetes of the young type 11 [RCV000013112]|Monogenic diabetes [RCV000445395]|not provided [RCV001521947]|not specified [RCV000116496] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity | 8 | 11548067 | 11548067 | Human | 2 | name |
| 401911661 | CV2800516 | single nucleotide variant | NM_001715.3(BLK):c.176A>G (p.Asp59Gly) | BLK-related disorder [RCV003399606] | uncertain significance | 8 | 11548032 | 11548032 | Human | | name , trait , alternate_id |
| 401931844 | CV2803898 | single nucleotide variant | NM_001715.3(BLK):c.284G>A (p.Trp95Ter) | BLK-related disorder [RCV003391492] | uncertain significance | 8 | 11549038 | 11549038 | Human | | name , trait , alternate_id |
| 402492890 | CV2877991 | single nucleotide variant | NM_001715.3(BLK):c.152C>T (p.Pro51Leu) | not provided [RCV003545119] | uncertain significance | 8 | 11546080 | 11546080 | Human | | name |
| 405146106 | CV2885256 | single nucleotide variant | NM_001715.3(BLK):c.219T>A (p.Asn73Lys) | not provided [RCV003561350] | uncertain significance | 8 | 11548075 | 11548075 | Human | | name |
| 11606711 | CV307634 | single nucleotide variant | NM_001715.3(BLK):c.1089G>A (p.Ala363=) | Maturity-onset diabetes of the young type 11 [RCV000334694] | uncertain significance | 8 | 11561361 | 11561361 | Human | 1 | name |
| 11658479 | CV312666 | single nucleotide variant | NM_001715.3(BLK):c.1308C>T (p.Tyr436=) | Maturity-onset diabetes of the young type 11 [RCV000349455] | uncertain significance | 8 | 11563106 | 11563106 | Human | 1 | name |
| 11602320 | CV312713 | single nucleotide variant | NM_001715.3(BLK):c.177C>G (p.Asp59Glu) | Maturity-onset diabetes of the young type 11 [RCV000289595]|Monogenic diabetes [RCV000445552]|Systemic lupus erythematosus [RCV002465633]|not provided [RCV000963903] | benign|likely benign | 8 | 11548033 | 11548033 | Human | 4 | name |
| 11607446 | CV312714 | single nucleotide variant | NM_001715.3(BLK):c.187G>A (p.Val63Met) | Maturity-onset diabetes of the young type 11 [RCV000343718]|Systemic lupus erythematosus [RCV002464191]|not provided [RCV001584087] | likely risk allele|benign|likely benign | 8 | 11548043 | 11548043 | Human | 3 | name |
| 11601786 | CV312715 | single nucleotide variant | NM_001715.3(BLK):c.223C>G (p.Arg75Gly) | Maturity-onset diabetes of the young type 11 [RCV000285152]|not provided [RCV001538615]|not specified [RCV003151047] | likely benign|uncertain significance | 8 | 11548079 | 11548079 | Human | 1 | name |
| 405070662 | CV3145309 | single nucleotide variant | NM_001715.3(BLK):c.228C>G (p.Asp76Glu) | not provided [RCV003850894] | uncertain significance | 8 | 11548084 | 11548084 | Human | | name |
| 402475970 | CV3173723 | single nucleotide variant | NM_001715.3(BLK):c.175G>A (p.Asp59Asn) | not provided [RCV003875261] | uncertain significance | 8 | 11546103 | 11546103 | Human | | name |
| 405228316 | CV3180351 | single nucleotide variant | NM_001715.3(BLK):c.1314G>A (p.Gly438=) | not provided [RCV003864771] | likely benign | 8 | 11563904 | 11563904 | Human | | name |
| 405269954 | CV3198047 | single nucleotide variant | NM_001715.3(BLK):c.1065T>C (p.Asn355=) | BLK-related disorder [RCV003899857] | likely benign | 8 | 11561337 | 11561337 | Human | | name , trait , alternate_id |
| 405276502 | CV3206760 | single nucleotide variant | NM_001715.3(BLK):c.1464G>A (p.Ser488=) | BLK-related disorder [RCV003917191]|not provided [RCV005101721] | likely benign | 8 | 11564054 | 11564054 | Human | 1 | name , trait , alternate_id |
| 405746592 | CV3294693 | single nucleotide variant | NM_001715.3(BLK):c.103G>A (p.Ala35Thr) | not specified [RCV004431474] | uncertain significance | 8 | 11543327 | 11543327 | Human | | name |
| 408365159 | CV3499773 | single nucleotide variant | NM_001715.3(BLK):c.237G>A (p.Met79Ile) | Maturity-onset diabetes of the young type 11 [RCV004720573] | likely pathogenic|uncertain significance | 8 | 11548093 | 11548093 | Human | 1 | name |
| 408371175 | CV3504914 | single nucleotide variant | NM_001715.3(BLK):c.137A>G (p.His46Arg) | BLK-related disorder [RCV004724534] | uncertain significance | 8 | 11546065 | 11546065 | Human | | name , trait , alternate_id |
| 408376068 | CV3511996 | single nucleotide variant | NM_001715.3(BLK):c.1209C>T (p.Ala403=) | BLK-related disorder [RCV004748412] | likely benign | 8 | 11563007 | 11563007 | Human | | name , trait , alternate_id |
| 597716474 | CV3636803 | single nucleotide variant | NM_001715.3(BLK):c.136C>T (p.His46Tyr) | not specified [RCV004887283] | uncertain significance | 8 | 11546064 | 11546064 | Human | | name |
| 597849162 | CV3746671 | single nucleotide variant | NM_001715.3(BLK):c.1026G>A (p.Ala342=) | not provided [RCV005066068] | likely benign | 8 | 11558035 | 11558035 | Human | | name |
| 12848578 | CV380229 | single nucleotide variant | NM_001715.3(BLK):c.154C>A (p.Pro52Thr) | Monogenic diabetes [RCV000445472]|not specified [RCV004022533] | uncertain significance | 8 | 11546082 | 11546082 | Human | 1 | name |
| 598209217 | CV3894881 | single nucleotide variant | NM_001715.3(BLK):c.199T>C (p.Tyr67His) | Monogenic diabetes [RCV005358360] | uncertain significance | 8 | 11548055 | 11548055 | Human | 1 | name |
| 14394901 | CV610600 | single nucleotide variant | NM_001715.3(BLK):c.164A>G (p.His55Arg) | Maturity-onset diabetes of the young type 11 [RCV001161222]|Systemic lupus erythematosus [RCV000758187] | benign|uncertain significance | 8 | 11546092 | 11546092 | Human | 3 | name |
| 14394902 | CV610601 | single nucleotide variant | NM_001715.3(BLK):c.252G>C (p.Lys84Asn) | Systemic lupus erythematosus [RCV000758188]|not provided [RCV005056504] | benign|uncertain significance | 8 | 11548108 | 11548108 | Human | 2 | name |
| 15120658 | CV782984 | single nucleotide variant | NM_001715.3(BLK):c.1251C>T (p.Asp417=) | not provided [RCV000979328] | likely benign | 8 | 11563049 | 11563049 | Human | | name |
| 28873593 | CV898763 | single nucleotide variant | NM_001715.3(BLK):c.1374C>T (p.Asp458=) | Maturity-onset diabetes of the young type 11 [RCV001164967] | uncertain significance | 8 | 11563964 | 11563964 | Human | 1 | name |
| 126739866 | CV1020429 | deletion | NM_001715.3(BLK):c.1471del (p.Glu491fs) | not specified [RCV002247017] | pathogenic|uncertain significance | 8 | 11564060 | 11564060 | Human | | name |
| 150423421 | CV1184057 | single nucleotide variant | NM_001715.3(BLK):c.433G>A (p.Ala145Thr) | not provided [RCV001555298] | likely benign | 8 | 11550223 | 11550223 | Human | | name |
| 151232403 | CV1316771 | single nucleotide variant | NM_001715.3(BLK):c.760G>A (p.Glu254Lys) | not provided [RCV001786591] | uncertain significance | 8 | 11555472 | 11555472 | Human | | name |
| 151351944 | CV1322135 | single nucleotide variant | NM_001715.3(BLK):c.859G>A (p.Val287Met) | Maturity-onset diabetes of the young type 11 [RCV002506840]|not specified [RCV001806758] | likely benign | 8 | 11556744 | 11556744 | Human | 1 | name |
| 151350243 | CV1324645 | single nucleotide variant | NM_001715.3(BLK):c.956G>T (p.Cys319Phe) | Maturity-onset diabetes of the young type 11 [RCV001809090] | uncertain significance | 8 | 11557965 | 11557965 | Human | 1 | name |
| 151355035 | CV1328102 | single nucleotide variant | NM_001715.3(BLK):c.539G>A (p.Arg180His) | Maturity-onset diabetes of the young type 11 [RCV005397029]|not provided [RCV005095253]|not specified [RCV001819578] | uncertain significance | 8 | 11554809 | 11554809 | Human | 1 | name |
| 151356470 | CV1329234 | single nucleotide variant | NM_001715.3(BLK):c.883C>T (p.Arg295Trp) | not provided [RCV002545176]|not specified [RCV001822823] | uncertain significance | 8 | 11556768 | 11556768 | Human | | name |
| 151827519 | CV1396377 | single nucleotide variant | NM_001715.3(BLK):c.674C>A (p.Pro225Gln) | not provided [RCV001934727] | uncertain significance | 8 | 11555386 | 11555386 | Human | | name |
| 151746281 | CV1401216 | single nucleotide variant | NM_001715.3(BLK):c.809C>T (p.Thr270Met) | Maturity-onset diabetes of the young type 11 [RCV002479742]|not provided [RCV002022854] | uncertain significance | 8 | 11556694 | 11556694 | Human | 1 | name |
| 151817909 | CV1427510 | single nucleotide variant | NM_001715.3(BLK):c.820G>A (p.Gly274Arg) | not provided [RCV001878930]|not specified [RCV004040518] | uncertain significance | 8 | 11556705 | 11556705 | Human | | name |
| 151888036 | CV1434022 | single nucleotide variant | NM_001715.3(BLK):c.781A>C (p.Lys261Gln) | not provided [RCV002038315] | uncertain significance | 8 | 11556666 | 11556666 | Human | | name |
| 151781985 | CV1446813 | single nucleotide variant | NM_001715.3(BLK):c.911C>T (p.Thr304Ile) | not provided [RCV002046251]|not specified [RCV004044730] | uncertain significance | 8 | 11556796 | 11556796 | Human | | name |
| 151824720 | CV1466486 | single nucleotide variant | NM_001715.3(BLK):c.847G>C (p.Gly283Arg) | not provided [RCV001879549] | uncertain significance | 8 | 11556732 | 11556732 | Human | | name |
| 152155348 | CV1668325 | single nucleotide variant | NM_001715.3(BLK):c.843T>G (p.Phe281Leu) | Systemic lupus erythematosus [RCV002222122] | association | 8 | 11556728 | 11556728 | Human | 2 | name |
| 153346194 | CV1690997 | single nucleotide variant | NM_001715.3(BLK):c.742G>A (p.Gly248Arg) | not specified [RCV002271898] | uncertain significance | 8 | 11555454 | 11555454 | Human | | name |
| 155680290 | CV1776628 | single nucleotide variant | NM_001715.3(BLK):c.439T>A (p.Ser147Thr) | not provided [RCV002298186] | uncertain significance | 8 | 11550229 | 11550229 | Human | | name |
| 155797078 | CV1860133 | single nucleotide variant | NM_001715.3(BLK):c.868G>T (p.Ala290Ser) | Maturity-onset diabetes of the young type 11 [RCV002466774] | uncertain significance | 8 | 11556753 | 11556753 | Human | 1 | name |
| 155795693 | CV1861449 | single nucleotide variant | NM_001715.3(BLK):c.574C>G (p.Arg192Gly) | BLK-related disorder [RCV003933795]|not provided [RCV002469731]|not specified [RCV003331372] | likely benign|uncertain significance | 8 | 11554844 | 11554844 | Human | 1 | name , trait , alternate_id |
| 156022575 | CV1911699 | single nucleotide variant | NM_001715.3(BLK):c.632G>T (p.Gly211Val) | not provided [RCV002636778] | uncertain significance | 8 | 11555344 | 11555344 | Human | | name |
| 156129464 | CV1924590 | single nucleotide variant | NM_001715.3(BLK):c.510G>C (p.Gln170His) | not provided [RCV002640655] | uncertain significance | 8 | 11554780 | 11554780 | Human | | name |
| 156440226 | CV1946588 | single nucleotide variant | NM_001715.3(BLK):c.665G>A (p.Arg222His) | BLK-related disorder [RCV003973751]|not provided [RCV003110257] | uncertain significance | 8 | 11555377 | 11555377 | Human | 1 | name , trait , alternate_id |
| 156238170 | CV2047111 | single nucleotide variant | NM_001715.3(BLK):c.400G>A (p.Ala134Thr) | not provided [RCV002805575] | uncertain significance | 8 | 11550190 | 11550190 | Human | | name |
| 10403958 | CV207496 | single nucleotide variant | NM_001715.3(BLK):c.713G>A (p.Arg238Gln) | Maturity-onset diabetes of the young type 11 [RCV000363851]|Monogenic diabetes [RCV005361107]|Systemic lupus erythematosus [RCV000758183]|not provided [RCV001569478]|not specified [RCV000193830] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 11555425 | 11555425 | Human | 4 | name |
| 156075339 | CV2141696 | single nucleotide variant | NM_001715.3(BLK):c.572C>G (p.Pro191Arg) | not provided [RCV002979072] | uncertain significance | 8 | 11554842 | 11554842 | Human | | name |
| 156231211 | CV2183999 | single nucleotide variant | NM_001715.3(BLK):c.550G>A (p.Glu184Lys) | not provided [RCV003043093] | uncertain significance | 8 | 11554820 | 11554820 | Human | | name |
| 156243941 | CV2243011 | single nucleotide variant | NM_001715.3(BLK):c.567C>G (p.Ile189Met) | not specified [RCV004109932] | uncertain significance | 8 | 11554837 | 11554837 | Human | | name |
| 156168142 | CV2320065 | single nucleotide variant | NM_001715.3(BLK):c.808A>T (p.Thr270Ser) | not specified [RCV004167922] | uncertain significance | 8 | 11556693 | 11556693 | Human | | name |
| 156448785 | CV2402197 | single nucleotide variant | NM_001715.3(BLK):c.922A>G (p.Ile308Val) | Maturity-onset diabetes of the young type 11 [RCV003120356]|not provided [RCV005099257] | likely benign|uncertain significance | 8 | 11556807 | 11556807 | Human | 1 | name |
| 156434746 | CV2403092 | single nucleotide variant | NM_001715.3(BLK):c.503C>T (p.Thr168Ile) | not provided [RCV003127048] | uncertain significance | 8 | 11554773 | 11554773 | Human | | name |
| 329370423 | CV2461712 | single nucleotide variant | NM_001715.3(BLK):c.901G>C (p.Ala301Pro) | not specified [RCV004269865] | uncertain significance | 8 | 11556786 | 11556786 | Human | | name |
| 401830151 | CV2744148 | single nucleotide variant | NM_001715.3(BLK):c.952G>A (p.Gly318Arg) | Maturity-onset diabetes of the young type 11 [RCV003327345] | uncertain significance | 8 | 11556837 | 11556837 | Human | 1 | name |
| 401925740 | CV2820890 | single nucleotide variant | NM_001715.3(BLK):c.642G>C (p.Gln214His) | not provided [RCV003436732] | uncertain significance | 8 | 11555354 | 11555354 | Human | | name |
| 402505832 | CV2927566 | single nucleotide variant | NM_001715.3(BLK):c.884G>C (p.Arg295Pro) | not provided [RCV003574329] | uncertain significance | 8 | 11556769 | 11556769 | Human | | name |
| 11597789 | CV303997 | single nucleotide variant | NM_001715.3(BLK):c.311G>T (p.Arg104Ile) | Maturity-onset diabetes of the young type 11 [RCV000397955] | uncertain significance | 8 | 11549065 | 11549065 | Human | 1 | name |
| 11590501 | CV304008 | single nucleotide variant | NM_001715.3(BLK):c.974A>C (p.Lys325Thr) | BLK-related disorder [RCV003932494]|Maturity-onset diabetes of the young type 11 [RCV000319404]|not provided [RCV001491840]|not specified [RCV000504164] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 11557983 | 11557983 | Human | 1 | name , trait , alternate_id |
| 11611761 | CV307589 | single nucleotide variant | NM_001715.3(BLK):c.424A>G (p.Ile142Val) | Maturity-onset diabetes of the young type 11 [RCV000399179]|not provided [RCV002524541] | benign|likely benign | 8 | 11550214 | 11550214 | Human | 1 | name |
| 11604765 | CV307591 | single nucleotide variant | NM_001715.3(BLK):c.617C>G (p.Ser206Cys) | Maturity-onset diabetes of the young type 11 [RCV000312480]|not provided [RCV001764332]|not specified [RCV004022065] | likely benign|uncertain significance | 8 | 11554887 | 11554887 | Human | 1 | name |
| 405006665 | CV3117537 | single nucleotide variant | NM_001715.3(BLK):c.554G>T (p.Gly185Val) | not provided [RCV003828592] | uncertain significance | 8 | 11554824 | 11554824 | Human | | name |
| 11611711 | CV312601 | single nucleotide variant | NM_001715.3(BLK):c.571C>A (p.Pro191Thr) | Maturity-onset diabetes of the young type 11 [RCV000398982] | uncertain significance | 8 | 11554841 | 11554841 | Human | 1 | name |
| 11601533 | CV312642 | single nucleotide variant | NM_001715.3(BLK):c.892C>T (p.Arg298Ter) | Maturity-onset diabetes of the young type 11 [RCV000283235] | uncertain significance | 8 | 11556777 | 11556777 | Human | | name |
| 405146595 | CV3152043 | single nucleotide variant | NM_001715.3(BLK):c.893G>A (p.Arg298Gln) | not provided [RCV003856014] | uncertain significance | 8 | 11556778 | 11556778 | Human | | name |
| 405746631 | CV3294697 | single nucleotide variant | NM_001715.3(BLK):c.554G>A (p.Gly185Glu) | not specified [RCV004431478] | uncertain significance | 8 | 11554824 | 11554824 | Human | | name |
| 405746638 | CV3294698 | single nucleotide variant | NM_001715.3(BLK):c.757G>T (p.Gly253Cys) | not specified [RCV004431479] | uncertain significance | 8 | 11555469 | 11555469 | Human | | name |
| 596928122 | CV3541272 | single nucleotide variant | NM_001715.3(BLK):c.458G>A (p.Ser153Asn) | Maturity-onset diabetes of the young type 11 [RCV004797143] | uncertain significance | 8 | 11550248 | 11550248 | Human | 1 | name |
| 596926490 | CV3542295 | single nucleotide variant | NM_001715.3(BLK):c.530A>G (p.Tyr177Cys) | Maturity-onset diabetes of the young type 11 [RCV004796510] | uncertain significance | 8 | 11554800 | 11554800 | Human | 1 | name |
| 596947558 | CV3549117 | single nucleotide variant | NM_001715.3(BLK):c.832C>G (p.Pro278Ala) | not provided [RCV004811441] | uncertain significance | 8 | 11556717 | 11556717 | Human | | name |
| 597716505 | CV3636798 | single nucleotide variant | NM_001715.3(BLK):c.329G>A (p.Ser110Asn) | not specified [RCV004887278] | uncertain significance | 8 | 11549083 | 11549083 | Human | | name |
| 597626911 | CV3636799 | single nucleotide variant | NM_001715.3(BLK):c.517C>G (p.Leu173Val) | not specified [RCV004887279] | likely benign | 8 | 11554787 | 11554787 | Human | | name |
| 597626917 | CV3636802 | single nucleotide variant | NM_001715.3(BLK):c.534G>T (p.Lys178Asn) | not specified [RCV004887282] | uncertain significance | 8 | 11554804 | 11554804 | Human | | name |
| 597724618 | CV3725694 | single nucleotide variant | NM_001715.3(BLK):c.437G>C (p.Gly146Ala) | Maturity-onset diabetes of the young type 11 [RCV005036004] | uncertain significance | 8 | 11550227 | 11550227 | Human | 1 | name |
| 597877981 | CV3744323 | single nucleotide variant | NM_001715.3(BLK):c.803T>C (p.Ile268Thr) | not provided [RCV005069537] | uncertain significance | 8 | 11556688 | 11556688 | Human | | name |
| 597872635 | CV3747198 | single nucleotide variant | NM_001715.3(BLK):c.485T>C (p.Leu162Pro) | not provided [RCV005068882] | uncertain significance | 8 | 11554755 | 11554755 | Human | | name |
| 12848576 | CV380230 | single nucleotide variant | NM_001715.3(BLK):c.335T>C (p.Phe112Ser) | Monogenic diabetes [RCV000445468]|not provided [RCV000880619]|not specified [RCV000500681] | benign|likely benign|uncertain significance | 8 | 11549089 | 11549089 | Human | 1 | name |
| 597938549 | CV3808266 | single nucleotide variant | NM_001715.3(BLK):c.448A>G (p.Ile150Val) | not provided [RCV005158454] | uncertain significance | 8 | 11550238 | 11550238 | Human | | name |
| 597958832 | CV3848559 | single nucleotide variant | NM_001715.3(BLK):c.796G>A (p.Val266Met) | not provided [RCV005192260] | uncertain significance | 8 | 11556681 | 11556681 | Human | | name |
| 597866368 | CV3857789 | single nucleotide variant | NM_001715.3(BLK):c.731T>C (p.Val244Ala) | not provided [RCV005196736] | uncertain significance | 8 | 11555443 | 11555443 | Human | | name |
| 598209223 | CV3894882 | single nucleotide variant | NM_001715.3(BLK):c.391C>G (p.Arg131Gly) | Monogenic diabetes [RCV005358361] | uncertain significance | 8 | 11550181 | 11550181 | Human | 1 | name |
| 598248238 | CV3949582 | single nucleotide variant | NM_001715.3(BLK):c.869C>G (p.Ala290Gly) | not specified [RCV005297991] | uncertain significance | 8 | 11556754 | 11556754 | Human | | name |
| 13519282 | CV491219 | single nucleotide variant | NM_001715.3(BLK):c.674C>T (p.Pro225Leu) | Maturity-onset diabetes of the young type 11 [RCV003117363]|not provided [RCV000597850] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 11555386 | 11555386 | Human | 1 | name |
| 13703999 | CV540009 | single nucleotide variant | NM_001715.3(BLK):c.712C>T (p.Arg238Trp) | Monogenic diabetes [RCV000664119]|not provided [RCV003767944] | uncertain significance | 8 | 11555424 | 11555424 | Human | 1 | name |
| 14394903 | CV610602 | single nucleotide variant | NM_001715.3(BLK):c.301G>A (p.Val101Ile) | Systemic lupus erythematosus [RCV000758189] | benign | 8 | 11549055 | 11549055 | Human | 2 | name |
| 14394904 | CV610603 | single nucleotide variant | NM_001715.3(BLK):c.344G>A (p.Arg115Gln) | Systemic lupus erythematosus [RCV000758190]|not provided [RCV003718284] | benign|uncertain significance | 8 | 11549098 | 11549098 | Human | 2 | name |
| 14394896 | CV610604 | single nucleotide variant | NM_001715.3(BLK):c.391C>T (p.Arg131Trp) | Maturity-onset diabetes of the young type 11 [RCV001164841]|Systemic lupus erythematosus [RCV000758181]|not provided [RCV001796205]|not specified [RCV002249456] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 11550181 | 11550181 | Human | 3 | name |
| 14394897 | CV610605 | single nucleotide variant | NM_001715.3(BLK):c.392G>A (p.Arg131Gln) | BLK-related disorder [RCV003411696]|Systemic lupus erythematosus [RCV000758182]|not provided [RCV002533815] | benign|uncertain significance | 8 | 11550182 | 11550182 | Human | 3 | name , trait , alternate_id |
| 14394898 | CV610606 | single nucleotide variant | NM_001715.3(BLK):c.919C>G (p.Pro307Ala) | Systemic lupus erythematosus [RCV000758184] | pathogenic | 8 | 11556804 | 11556804 | Human | 2 | name |
| 28908125 | CV898756 | single nucleotide variant | NM_001715.3(BLK):c.668C>T (p.Pro223Leu) | Maturity-onset diabetes of the young type 11 [RCV001159938]|Monogenic diabetes [RCV005359885] | likely benign|uncertain significance | 8 | 11555380 | 11555380 | Human | 2 | name |
| 28908128 | CV898757 | single nucleotide variant | NM_001715.3(BLK):c.677A>C (p.Gln226Pro) | Maturity-onset diabetes of the young type 11 [RCV001159939] | uncertain significance | 8 | 11555389 | 11555389 | Human | 1 | name |
| 28910335 | CV898759 | single nucleotide variant | NM_001715.3(BLK):c.824C>T (p.Thr275Ile) | Maturity-onset diabetes of the young type 11 [RCV001161336] | uncertain significance | 8 | 11556709 | 11556709 | Human | 1 | name |
| 28869060 | CV898760 | single nucleotide variant | NM_001715.3(BLK):c.980A>T (p.Asp327Val) | Maturity-onset diabetes of the young type 11 [RCV001162884]|not provided [RCV002558557] | likely benign|uncertain significance | 8 | 11557989 | 11557989 | Human | 1 | name |
| 126730529 | CV985983 | single nucleotide variant | NM_001715.3(BLK):c.343C>T (p.Arg115Ter) | Maturity-onset diabetes of the young, type 11 [RCV001294195] | pathogenic | 8 | 11549097 | 11549097 | Human | | name |
| 150540731 | CV1296129 | single nucleotide variant | NM_001715.3(BLK):c.1291T>C (p.Tyr431His) | not provided [RCV001760598] | uncertain significance | 8 | 11563089 | 11563089 | Human | | name |
| 150556227 | CV1296776 | single nucleotide variant | NM_001715.3(BLK):c.1283T>C (p.Val428Ala) | not provided [RCV001774066] | uncertain significance | 8 | 11563081 | 11563081 | Human | | name |
| 150555685 | CV1304840 | single nucleotide variant | NM_001715.3(BLK):c.1274T>G (p.Leu425Arg) | not provided [RCV001773088] | uncertain significance | 8 | 11563072 | 11563072 | Human | | name |
| 151795997 | CV1471149 | single nucleotide variant | NM_001715.3(BLK):c.1148G>A (p.Arg383Gln) | not provided [RCV001952484] | uncertain significance | 8 | 11561420 | 11561420 | Human | | name |
| 151768316 | CV1486171 | single nucleotide variant | NM_001715.3(BLK):c.1369C>G (p.Pro457Ala) | not provided [RCV002044993] | uncertain significance | 8 | 11563959 | 11563959 | Human | | name |
| 156104268 | CV1917108 | single nucleotide variant | NM_001715.3(BLK):c.1297C>T (p.Arg433Trp) | not provided [RCV002592391] | uncertain significance | 8 | 11563095 | 11563095 | Human | | name |
| 156445885 | CV1952137 | single nucleotide variant | NM_001715.3(BLK):c.1452G>C (p.Glu484Asp) | not provided [RCV003116848] | uncertain significance | 8 | 11564042 | 11564042 | Human | | name |
| 156168537 | CV2133476 | single nucleotide variant | NM_001715.3(BLK):c.1253T>G (p.Val418Gly) | not provided [RCV003005315] | uncertain significance | 8 | 11563051 | 11563051 | Human | | name |
| 156307477 | CV2153763 | single nucleotide variant | NM_001715.3(BLK):c.1034C>T (p.Ala345Val) | not provided [RCV003028395] | uncertain significance | 8 | 11561306 | 11561306 | Human | | name |
| 155903010 | CV2274805 | single nucleotide variant | NM_001715.3(BLK):c.1066T>C (p.Ser356Pro) | not specified [RCV004139145] | uncertain significance | 8 | 11561338 | 11561338 | Human | | name |
| 156094529 | CV2398845 | single nucleotide variant | NM_001715.3(BLK):c.1051A>G (p.Ile351Val) | not specified [RCV004245168] | uncertain significance | 8 | 11561323 | 11561323 | Human | | name |
| 156448724 | CV2402134 | single nucleotide variant | NM_001715.3(BLK):c.1393T>C (p.Tyr465His) | Maturity-onset diabetes of the young type 11 [RCV003120293] | uncertain significance | 8 | 11563983 | 11563983 | Human | 1 | name |
| 243064937 | CV2409505 | single nucleotide variant | NM_001715.3(BLK):c.1370C>T (p.Pro457Leu) | Maturity-onset diabetes of the young type 11 [RCV003143795] | uncertain significance | 8 | 11563960 | 11563960 | Human | 1 | name |
| 243049440 | CV2416802 | single nucleotide variant | NM_001715.3(BLK):c.1363C>G (p.Pro455Ala) | not specified [RCV003151474] | uncertain significance | 8 | 11563953 | 11563953 | Human | | name |
| 329954963 | CV2670895 | single nucleotide variant | NM_001715.3(BLK):c.1091C>T (p.Ala364Val) | not provided [RCV003236163] | uncertain significance | 8 | 11561363 | 11561363 | Human | | name |
| 401779059 | CV2702102 | single nucleotide variant | NM_001715.3(BLK):c.1432G>A (p.Glu478Lys) | not specified [RCV004320671] | uncertain significance | 8 | 11564022 | 11564022 | Human | | name |
| 401829991 | CV2747725 | single nucleotide variant | NM_001715.3(BLK):c.1171G>A (p.Ala391Thr) | Maturity-onset diabetes of the young type 11 [RCV003329143] | uncertain significance | 8 | 11561443 | 11561443 | Human | 1 | name |
| 401919396 | CV2798284 | single nucleotide variant | NM_001715.3(BLK):c.1088C>T (p.Ala363Val) | BLK-related disorder [RCV003402303] | uncertain significance | 8 | 11561360 | 11561360 | Human | | name , trait , alternate_id |
| 405045276 | CV2859899 | single nucleotide variant | NM_001715.3(BLK):c.1070T>C (p.Ile357Thr) | not provided [RCV003579405] | uncertain significance | 8 | 11561342 | 11561342 | Human | | name |
| 405217266 | CV2872680 | single nucleotide variant | NM_001715.3(BLK):c.1408G>A (p.Ala470Thr) | not provided [RCV003553384] | uncertain significance | 8 | 11563998 | 11563998 | Human | | name |
| 405224500 | CV2885525 | single nucleotide variant | NM_001715.3(BLK):c.1025C>T (p.Ala342Val) | not provided [RCV003554423] | uncertain significance | 8 | 11558034 | 11558034 | Human | | name |
| 402487421 | CV2928534 | single nucleotide variant | NM_001715.3(BLK):c.1460A>G (p.Gln487Arg) | not provided [RCV003572670] | uncertain significance | 8 | 11564050 | 11564050 | Human | | name |
| 11587389 | CV304026 | single nucleotide variant | NM_001715.3(BLK):c.1208C>T (p.Ala403Val) | Maturity-onset diabetes of the young type 11 [RCV000294577] | uncertain significance | 8 | 11563006 | 11563006 | Human | 1 | name |
| 11589336 | CV304028 | single nucleotide variant | NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) | Maturity-onset diabetes of the young type 11 [RCV000309961]|not provided [RCV003128766] | uncertain significance | 8 | 11563941 | 11563941 | Human | 1 | name |
| 405143783 | CV3056195 | single nucleotide variant | NM_001715.3(BLK):c.1362G>T (p.Met454Ile) | not provided [RCV003725876] | uncertain significance | 8 | 11563952 | 11563952 | Human | | name |
| 405207787 | CV3064713 | single nucleotide variant | NM_001715.3(BLK):c.1022C>T (p.Ser341Leu) | not provided [RCV003731560] | uncertain significance | 8 | 11558031 | 11558031 | Human | | name |
| 11611594 | CV307635 | single nucleotide variant | NM_001715.3(BLK):c.1349G>A (p.Arg450His) | Maturity-onset diabetes of the young type 11 [RCV000397116]|not provided [RCV001547490] | benign|likely benign | 8 | 11563939 | 11563939 | Human | 1 | name |
| 11601138 | CV312649 | single nucleotide variant | NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) | Maturity-onset diabetes of the young type 11 [RCV000279603]|Systemic lupus erythematosus [RCV002465638]|not provided [RCV001591031]|not specified [RCV001821100] | likely pathogenic|benign|likely benign|uncertain significance | 8 | 11561329 | 11561329 | Human | 3 | name |
| 11609941 | CV312758 | single nucleotide variant | NM_001715.3(BLK):c.1046C>T (p.Ala349Val) | Maturity-onset diabetes of the young type 11 [RCV000374019] | uncertain significance | 8 | 11561318 | 11561318 | Human | 1 | name |
| 11663616 | CV312762 | single nucleotide variant | NM_001715.3(BLK):c.1120T>G (p.Cys374Gly) | Maturity-onset diabetes of the young type 11 [RCV000397139] | uncertain significance | 8 | 11561392 | 11561392 | Human | 1 | name |
| 405138054 | CV3155042 | single nucleotide variant | NM_001715.3(BLK):c.1082T>G (p.Leu361Arg) | not provided [RCV003855280] | uncertain significance | 8 | 11561354 | 11561354 | Human | | name |
| 405198935 | CV3164523 | single nucleotide variant | NM_001715.3(BLK):c.1156G>A (p.Asp386Asn) | not provided [RCV003860580] | uncertain significance | 8 | 11561428 | 11561428 | Human | | name |
| 405746606 | CV3294694 | single nucleotide variant | NM_001715.3(BLK):c.1085G>A (p.Arg362Gln) | not specified [RCV004431475] | uncertain significance | 8 | 11561357 | 11561357 | Human | | name |
| 405746614 | CV3294695 | single nucleotide variant | NM_001715.3(BLK):c.1112C>T (p.Ala371Val) | not specified [RCV004431476] | uncertain significance | 8 | 11561384 | 11561384 | Human | | name |
| 405746624 | CV3294696 | single nucleotide variant | NM_001715.3(BLK):c.1397G>A (p.Arg466His) | not provided [RCV005104573]|not specified [RCV004431477] | uncertain significance | 8 | 11563987 | 11563987 | Human | | name |
| 407473295 | CV3427701 | single nucleotide variant | NM_001715.3(BLK):c.1294G>A (p.Gly432Arg) | not specified [RCV004600329] | uncertain significance | 8 | 11563092 | 11563092 | Human | | name |
| 407473299 | CV3427702 | single nucleotide variant | NM_001715.3(BLK):c.1343T>C (p.Leu448Pro) | not specified [RCV004600330] | uncertain significance | 8 | 11563933 | 11563933 | Human | | name |
| 408376306 | CV3512850 | single nucleotide variant | NM_001715.3(BLK):c.1429C>A (p.Pro477Thr) | BLK-related disorder [RCV004749008] | uncertain significance | 8 | 11564019 | 11564019 | Human | | name , trait , alternate_id |
| 596927798 | CV3541235 | single nucleotide variant | NM_001715.3(BLK):c.1013T>C (p.Ile338Thr) | Maturity-onset diabetes of the young type 11 [RCV004797106] | uncertain significance | 8 | 11558022 | 11558022 | Human | 1 | name |
| 597879644 | CV3744444 | single nucleotide variant | NM_001715.3(BLK):c.1108G>C (p.Glu370Gln) | not provided [RCV005069658] | uncertain significance | 8 | 11561380 | 11561380 | Human | | name |
| 597960551 | CV3794684 | single nucleotide variant | NM_001715.3(BLK):c.1374C>G (p.Asp458Glu) | not provided [RCV005138589] | uncertain significance | 8 | 11563964 | 11563964 | Human | | name |
| 597958581 | CV3797275 | single nucleotide variant | NM_001715.3(BLK):c.1175A>G (p.Gln392Arg) | not provided [RCV005137962] | uncertain significance | 8 | 11561447 | 11561447 | Human | | name |
| 597910019 | CV3806531 | single nucleotide variant | NM_001715.3(BLK):c.1178A>C (p.Glu393Ala) | not provided [RCV005154098] | uncertain significance | 8 | 11561450 | 11561450 | Human | | name |
| 597972431 | CV3812971 | single nucleotide variant | NM_001715.3(BLK):c.1267G>C (p.Val423Leu) | not provided [RCV005167424] | uncertain significance | 8 | 11563065 | 11563065 | Human | | name |
| 13704000 | CV540010 | single nucleotide variant | NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) | Maturity-onset diabetes of the young type 11 [RCV001162885]|Monogenic diabetes [RCV000664120]|Systemic lupus erythematosus [RCV002465748] | benign|likely benign | 8 | 11558030 | 11558030 | Human | 4 | name |
| 14394899 | CV610607 | single nucleotide variant | NM_001715.3(BLK):c.1048T>C (p.Tyr350His) | Systemic lupus erythematosus [RCV000758185] | pathogenic | 8 | 11561320 | 11561320 | Human | 2 | name |
| 14394900 | CV610608 | single nucleotide variant | NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) | BLK-related disorder [RCV003938143]|Maturity-onset diabetes of the young type 11 [RCV001162886]|Monogenic diabetes [RCV005357984]|Systemic lupus erythematosus [RCV000758186]|not provided [RCV002305535]|not specified [RCV002249457] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 11561347 | 11561347 | Human | 4 | name , trait , alternate_id |
| 28869065 | CV898761 | single nucleotide variant | NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) | Maturity-onset diabetes of the young type 11 [RCV001162887] | uncertain significance | 8 | 11561414 | 11561414 | Human | 1 | name |
| 28873589 | CV898762 | single nucleotide variant | NM_001715.3(BLK):c.1252G>A (p.Val418Met) | Maturity-onset diabetes of the young type 11 [RCV001164965] | uncertain significance | 8 | 11563050 | 11563050 | Human | 1 | name |
| 28873597 | CV898764 | single nucleotide variant | NM_001715.3(BLK):c.1411G>C (p.Glu471Gln) | Maturity-onset diabetes of the young type 11 [RCV001164968] | uncertain significance | 8 | 11564001 | 11564001 | Human | 1 | name |
| 151777417 | CV1342711 | duplication | NM_001715.3(BLK):c.1428_1432dup (p.Glu478fs) | not provided [RCV001988815] | uncertain significance | 8 | 11564014 | 11564015 | Human | | name |
| 8563046 | CV27360 | single nucleotide variant | NC_000008.11:g.11573132C>T | BLK-related disorder [RCV003914831]|Maturity-onset diabetes of the young type 11 [RCV000013114]|not specified [RCV001777135] | pathogenic|benign|conflicting interpretations of pathogenicity | 8 | 11573132 | 11573132 | Human | 1 | trait , alternate_id |
| 405283162 | CV3191316 | single nucleotide variant | NC_000008.11:g.11564614T>C | BLK-related disorder [RCV003921714] | likely benign | 8 | 11564614 | 11564614 | Human | | trait , alternate_id |
| 405274540 | CV3208860 | single nucleotide variant | NC_000008.11:g.11474237T>A | BLK-related disorder [RCV003951659] | likely benign | 8 | 11474237 | 11474237 | Human | | trait , alternate_id |
| 28869222 | CV900434 | single nucleotide variant | NC_000008.11:g.11564608G>T | BLK-related disorder [RCV003945882]|Maturity-onset diabetes of the young type 11 [RCV001162991]|not provided [RCV004695054] | likely benign|uncertain significance | 8 | 11564608 | 11564608 | Human | 1 | trait , alternate_id |
