| NM_003590.5(CUL3):c.116dup (p.Asn39fs) |
duplication |
not provided [RCV000522638] |
Chr2:224557806..224557807 [GRCh38]
Chr2:225422523..225422524 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| CUL3, IVS8, A-G, -26 |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV000023252] |
Chr2:2q36 |
pathogenic |
| CUL3, IVS8, T-G, -28 |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV000023253] |
Chr2:2q36 |
pathogenic |
| CUL3, IVS8, T-G, -12 |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV000023254] |
Chr2:2q36 |
pathogenic |
| CUL3, IVS8, T-A, -5 |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV000023255] |
Chr2:2q36 |
pathogenic |
| CUL3, IVS8, C-T, -3 |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV000023256] |
Chr2:2q36 |
pathogenic |
| CUL3, IVS8, G-A, -1 |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV000023257] |
Chr2:2q36 |
pathogenic |
| NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128493]|Pseudohypoaldosteronism type 2E [RCV000023258] |
Chr2:224503791 [GRCh38]
Chr2:225368508 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 |
copy number gain |
See cases [RCV000051119] |
Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3 |
pathogenic |
| GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 |
copy number loss |
See cases [RCV000052634] |
Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3 |
pathogenic |
| GRCh38/hg38 2q36.1-36.2(chr2:221387419-224669350)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|See cases [RCV000052635] |
Chr2:221387419..224669350 [GRCh38]
Chr2:222252139..225534067 [GRCh37]
Chr2:221960383..225242311 [NCBI36]
Chr2:2q36.1-36.2 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] |
Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3 |
pathogenic |
| GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] |
Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3 |
pathogenic |
| GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] |
Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3 |
pathogenic |
| GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] |
Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3 |
pathogenic |
| NM_003590.4(CUL3):c.956C>T (p.Ser319Phe) |
single nucleotide variant |
Malignant melanoma [RCV000065430] |
Chr2:224506931 [GRCh38]
Chr2:225371648 [GRCh37]
Chr2:225079892 [NCBI36]
Chr2:2q36.2 |
not provided |
| NM_003590.5(CUL3):c.1376_1377+4del |
deletion |
Pseudohypoaldosteronism type 2A [RCV000128495] |
Chr2:224503648..224503653 [GRCh38]
Chr2:225368365..225368370 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1377G>A (p.Lys459=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000256456] |
Chr2:224503652 [GRCh38]
Chr2:225368369 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic |
| NM_003590.5(CUL3):c.1207-12T>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128486]|Pseudohypoaldosteronism type 2E [RCV000023254] |
Chr2:224503834 [GRCh38]
Chr2:225368551 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1207-1G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128487]|Pseudohypoaldosteronism type 2E [RCV000023257] |
Chr2:224503823 [GRCh38]
Chr2:225368540 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1207-26A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128488]|Pseudohypoaldosteronism type 2E [RCV000023252] |
Chr2:224503848 [GRCh38]
Chr2:225368565 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1207-28T>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128489]|Pseudohypoaldosteronism type 2E [RCV000023253] |
Chr2:224503850 [GRCh38]
Chr2:225368567 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1207-3C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128490]|Pseudohypoaldosteronism type 2E [RCV000023256] |
Chr2:224503825 [GRCh38]
Chr2:225368542 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1207-5T>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128491]|Pseudohypoaldosteronism type 2E [RCV000023255] |
Chr2:224503827 [GRCh38]
Chr2:225368544 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1236G>A (p.Leu412=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128492] |
Chr2:224503793 [GRCh38]
Chr2:225368510 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128494] |
Chr2:224503653 [GRCh38]
Chr2:225368370 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1377+1dup |
duplication |
Pseudohypoaldosteronism type 2A [RCV000128496] |
Chr2:224503650..224503651 [GRCh38]
Chr2:225368367..225368368 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1377+1G>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128497] |
Chr2:224503651 [GRCh38]
Chr2:225368368 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1377+3A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2A [RCV000128498] |
Chr2:224503649 [GRCh38]
Chr2:225368366 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 |
copy number gain |
See cases [RCV000135934] |
Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3 |
pathogenic |
| GRCh38/hg38 2q36.2-36.3(chr2:224415921-225227768)x1 |
copy number loss |
See cases [RCV000137705] |
Chr2:224415921..225227768 [GRCh38]
Chr2:225280638..226092485 [GRCh37]
Chr2:224988882..225800729 [NCBI36]
Chr2:2q36.2-36.3 |
uncertain significance |
| GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3 |
pathogenic |
| GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 |
copy number gain |
See cases [RCV000143216] |
Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3 |
pathogenic |
| NM_003590.5(CUL3):c.*2854A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000261371]|Pseudohypoaldosteronism type 2E [RCV001139331] |
Chr2:224471391 [GRCh38]
Chr2:225336108 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2653G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000265321]|Pseudohypoaldosteronism type 2E [RCV001139336] |
Chr2:224471592 [GRCh38]
Chr2:225336309 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*3531_*3532del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000262890] |
Chr2:224470713..224470714 [GRCh38]
Chr2:225335430..225335431 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.2029+14T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000393848]|Pseudohypoaldosteronism type 2E [RCV001142070]|Pseudohypoaldosteronism type 2E [RCV002504131]|not provided [RCV002521403] |
Chr2:224481878 [GRCh38]
Chr2:225346595 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.883+13G>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000275661]|Pseudohypoaldosteronism type 2E [RCV001139549]|Pseudohypoaldosteronism type 2E [RCV002488719]|not provided [RCV002521405] |
Chr2:224511341 [GRCh38]
Chr2:225376058 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516) |
copy number loss |
Waardenburg syndrome type 1 [RCV002280673] |
Chr2:222902251..226084516 [GRCh37]
Chr2:2q36.1-36.2 |
pathogenic |
| NM_003590.5(CUL3):c.264+9C>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000374714]|Pseudohypoaldosteronism type 2E [RCV001139555]|Pseudohypoaldosteronism type 2E [RCV002502296]|not provided [RCV002523118] |
Chr2:224557650 [GRCh38]
Chr2:225422367 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*3367T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000283607]|Pseudohypoaldosteronism type 2E [RCV001143656] |
Chr2:224470878 [GRCh38]
Chr2:225335595 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*265_*269del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000279462] |
Chr2:224473976..224473980 [GRCh38]
Chr2:225338693..225338697 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1699G>A (p.Val567Ile) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000390540]|Pseudohypoaldosteronism type 2E [RCV001142074]|not provided [RCV001597008]|not specified [RCV000241718] |
Chr2:224497761 [GRCh38]
Chr2:225362478 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1992A>G (p.Gln664=) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000307194]|Pseudohypoaldosteronism type 2E [RCV001142071]|not provided [RCV001651178]|not specified [RCV000244884] |
Chr2:224481929 [GRCh38]
Chr2:225346646 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1485+13G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000367890]|Pseudohypoaldosteronism type 2E [RCV001137308]|not provided [RCV001618429]|not specified [RCV000249937] |
Chr2:224502952 [GRCh38]
Chr2:225367669 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*3736del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000275691] |
Chr2:224470509 [GRCh38]
Chr2:225335226 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*1483C>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000269017]|Pseudohypoaldosteronism type 2E [RCV001137207] |
Chr2:224472762 [GRCh38]
Chr2:225337479 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*2431G>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000266548]|Pseudohypoaldosteronism type 2E [RCV001141955] |
Chr2:224471814 [GRCh38]
Chr2:225336531 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*1245_*1249del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000272568] |
Chr2:224472996..224473000 [GRCh38]
Chr2:225337713..225337717 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.*2073A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000298493]|Pseudohypoaldosteronism type 2E [RCV001143761] |
Chr2:224472172 [GRCh38]
Chr2:225336889 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.693A>C (p.Ser231=) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000333053]|CUL3-related disorder [RCV003972415]|Pseudohypoaldosteronism type 2E [RCV001139550]|not provided [RCV002521406] |
Chr2:224511544 [GRCh38]
Chr2:225376261 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*1872G>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000299744]|Pseudohypoaldosteronism type 2E [RCV001143765] |
Chr2:224472373 [GRCh38]
Chr2:225337090 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*2037del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000334716] |
Chr2:224472208 [GRCh38]
Chr2:225336925 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3672T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000316845]|Pseudohypoaldosteronism type 2E [RCV001143651] |
Chr2:224470573 [GRCh38]
Chr2:225335290 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*3463T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000318905]|Pseudohypoaldosteronism type 2E [RCV001143654] |
Chr2:224470782 [GRCh38]
Chr2:225335499 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*3148A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000379445]|Pseudohypoaldosteronism type 2E [RCV001137088] |
Chr2:224471097 [GRCh38]
Chr2:225335814 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*1934_*1937del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000402998]|not provided [RCV003437069] |
Chr2:224472308..224472311 [GRCh38]
Chr2:225337025..225337028 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*1774G>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000359242]|Pseudohypoaldosteronism type 2E [RCV001137203] |
Chr2:224472471 [GRCh38]
Chr2:224472471..224472472 [GRCh38]
Chr2:225337188 [GRCh37]
Chr2:225337188..225337189 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*2272T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000380730]|Pseudohypoaldosteronism type 2E [RCV001141958]|not provided [RCV002274986] |
Chr2:224471973 [GRCh38]
Chr2:225336690 [GRCh37]
Chr2:2q36.2 |
benign|likely benign|uncertain significance |
| NM_003590.5(CUL3):c.*2912T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000404662]|Pseudohypoaldosteronism type 2E [RCV001137093] |
Chr2:224471333 [GRCh38]
Chr2:225336050 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*4088T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000406275]|Pseudohypoaldosteronism type 2E [RCV001139237] |
Chr2:224470157 [GRCh38]
Chr2:225334874 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.2052C>T (p.Ser684=) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000342236]|CUL3-related disorder [RCV003972414]|Pseudohypoaldosteronism type 2E [RCV001142069]|Pseudohypoaldosteronism type 2E [RCV002502294]|not provided [RCV000958595] |
Chr2:224478323 [GRCh38]
Chr2:225343040 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*2130A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000292532]|Pseudohypoaldosteronism type 2E [RCV001143759]|not provided [RCV002274987] |
Chr2:224472115 [GRCh38]
Chr2:225336832 [GRCh37]
Chr2:2q36.2 |
benign|likely benign|uncertain significance |
| NM_003590.5(CUL3):c.*3156A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000343341]|Pseudohypoaldosteronism type 2E [RCV001137087] |
Chr2:224471089 [GRCh38]
Chr2:225335806 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.1708-14del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000364306]|not provided [RCV002521404] |
Chr2:224495980 [GRCh38]
Chr2:225360697 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*1403A>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000364732]|Pseudohypoaldosteronism type 2E [RCV001137208] |
Chr2:224472842 [GRCh38]
Chr2:225337559 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*3789C>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000364642]|Pseudohypoaldosteronism type 2E [RCV001141859] |
Chr2:224470456 [GRCh38]
Chr2:225335173 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*905A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000386608]|Pseudohypoaldosteronism type 2E [RCV001139449] |
Chr2:224473340 [GRCh38]
Chr2:225338057 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2192T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000386852]|Pseudohypoaldosteronism type 2E [RCV001143758] |
Chr2:224472053 [GRCh38]
Chr2:225336770 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*3026G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000344713]|Pseudohypoaldosteronism type 2E [RCV001137090] |
Chr2:224471219 [GRCh38]
Chr2:225335936 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2945G>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000309164]|Pseudohypoaldosteronism type 2E [RCV001137091]|not provided [RCV003437068] |
Chr2:224471300 [GRCh38]
Chr2:225336017 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*1451AAC[1] |
microsatellite |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000326482] |
Chr2:224472789..224472791 [GRCh38]
Chr2:225337506..225337508 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2193G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000346059]|Pseudohypoaldosteronism type 2E [RCV001141960] |
Chr2:224472052 [GRCh38]
Chr2:225336769 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*896G>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000294725]|Pseudohypoaldosteronism type 2E [RCV001139450] |
Chr2:224473349 [GRCh38]
Chr2:225338066 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*3991A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000310083]|Pseudohypoaldosteronism type 2E [RCV001141854] |
Chr2:224470254 [GRCh38]
Chr2:225334971 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1581A>T (p.Ala527=) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000310815]|Pseudohypoaldosteronism type 2E [RCV001137307]|Pseudohypoaldosteronism type 2E [RCV002502295]|not provided [RCV002057672] |
Chr2:224500392 [GRCh38]
Chr2:225365109 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*940C>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000329801]|Pseudohypoaldosteronism type 2E [RCV001137209] |
Chr2:224473305 [GRCh38]
Chr2:225338022 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*3753T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000370481]|Pseudohypoaldosteronism type 2E [RCV001143650] |
Chr2:224470492 [GRCh38]
Chr2:225335209 [GRCh37]
Chr2:2q36.2 |
likely benign|uncertain significance |
| NM_003590.5(CUL3):c.*2863T>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000370094]|Pseudohypoaldosteronism type 2E [RCV001139330] |
Chr2:224471382 [GRCh38]
Chr2:225336099 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*2923A>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000350022]|Pseudohypoaldosteronism type 2E [RCV001137092] |
Chr2:224471322 [GRCh38]
Chr2:225336039 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.600C>G (p.Val200=) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000371296]|Pseudohypoaldosteronism type 2E [RCV001139551]|not provided [RCV003765947] |
Chr2:224513578 [GRCh38]
Chr2:225378295 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*294A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000371433]|Pseudohypoaldosteronism type 2E [RCV001140225]|not provided [RCV003311765] |
Chr2:224473951 [GRCh38]
Chr2:225338668 [GRCh37]
Chr2:2q36.2 |
likely benign|uncertain significance |
| NM_003590.5(CUL3):c.*3665T>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000371517]|Pseudohypoaldosteronism type 2E [RCV001143652] |
Chr2:224470580 [GRCh38]
Chr2:225335297 [GRCh37]
Chr2:2q36.2 |
benign|uncertain significance |
| NM_003590.5(CUL3):c.*89A>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000393904]|Pseudohypoaldosteronism type 2E [RCV001140228] |
Chr2:224474156 [GRCh38]
Chr2:225338873 [GRCh37]
Chr2:2q36.2 |
likely benign|uncertain significance |
| NM_003590.5(CUL3):c.*2766G>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000297744]|Pseudohypoaldosteronism type 2E [RCV001139333] |
Chr2:224471479 [GRCh38]
Chr2:225336196 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.310A>T (p.Thr104Ser) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000260274]|Pseudohypoaldosteronism type 2E [RCV001139553] |
Chr2:224535596 [GRCh38]
Chr2:225400313 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3785dup |
duplication |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000274652] |
Chr2:224470459..224470460 [GRCh38]
Chr2:225335176..225335177 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2117dup |
duplication |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000352000] |
Chr2:224472127..224472128 [GRCh38]
Chr2:225336844..225336845 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.*1518A>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000265652]|Pseudohypoaldosteronism type 2E [RCV001137204] |
Chr2:224472727 [GRCh38]
Chr2:225337444 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003590.5(CUL3):c.*2195A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000291164]|Pseudohypoaldosteronism type 2E [RCV001141959] |
Chr2:224472050 [GRCh38]
Chr2:225336767 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3766G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000329885]|Pseudohypoaldosteronism type 2E [RCV001141860] |
Chr2:224470479 [GRCh38]
Chr2:225335196 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*1498C>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000361376]|Pseudohypoaldosteronism type 2E [RCV001137206] |
Chr2:224472747 [GRCh38]
Chr2:225337464 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2469G>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000379779]|Pseudohypoaldosteronism type 2E [RCV001141954] |
Chr2:224471776 [GRCh38]
Chr2:225336493 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2868T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000315431]|Pseudohypoaldosteronism type 2E [RCV001137094] |
Chr2:224471377 [GRCh38]
Chr2:225336094 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*1506G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000304374]|Pseudohypoaldosteronism type 2E [RCV001137205] |
Chr2:224472739 [GRCh38]
Chr2:225337456 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.304C>A (p.Leu102Ile) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000317737]|Pseudohypoaldosteronism type 2E [RCV001139554] |
Chr2:224535602 [GRCh38]
Chr2:225400319 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*545A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000333335]|Pseudohypoaldosteronism type 2E [RCV001139456] |
Chr2:224473700 [GRCh38]
Chr2:225338417 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2584T>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000320410]|Pseudohypoaldosteronism type 2E [RCV001139337] |
Chr2:224471661 [GRCh38]
Chr2:225336378 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.2102A>T (p.His701Leu) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000284873]|not provided [RCV002523117] |
Chr2:224478273 [GRCh38]
Chr2:225342990 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*207G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000336791]|Pseudohypoaldosteronism type 2E [RCV001140226] |
Chr2:224474038 [GRCh38]
Chr2:225338755 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2946_*2949del |
deletion |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000408438] |
Chr2:224471296..224471299 [GRCh38]
Chr2:225336013..225336016 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2093A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000391035]|Pseudohypoaldosteronism type 2E [RCV001143760] |
Chr2:224472152 [GRCh38]
Chr2:225336869 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2424C>T |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000326059]|Pseudohypoaldosteronism type 2E [RCV001141956] |
Chr2:224471821 [GRCh38]
Chr2:225336538 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2756G>A |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000357316]|Pseudohypoaldosteronism type 2E [RCV001139334] |
Chr2:224471489 [GRCh38]
Chr2:225336206 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3096G>C |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000289627] |
Chr2:224471149 [GRCh38]
Chr2:225335866 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3392A>G |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000378183]|Pseudohypoaldosteronism type 2E [RCV001143655] |
Chr2:224470853 [GRCh38]
Chr2:225335570 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2851A>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139332] |
Chr2:224471394 [GRCh38]
Chr2:225336111 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.67-11872T>C |
single nucleotide variant |
not provided [RCV001709673]|not specified [RCV000603364] |
Chr2:224569728 [GRCh38]
Chr2:225434445 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.739C>T (p.Arg247Ter) |
single nucleotide variant |
not provided [RCV000627335] |
Chr2:224511498 [GRCh38]
Chr2:225376215 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic |
| NM_003590.5(CUL3):c.493_494del (p.Leu165fs) |
microsatellite |
Inborn genetic diseases [RCV001266494]|Neurodevelopmental disorder with or without autism or seizures [RCV003147517]|Pseudohypoaldosteronism type 2E [RCV003147516]|not provided [RCV000598968] |
Chr2:224514657..224514658 [GRCh38]
Chr2:225379374..225379375 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 |
copy number loss |
not provided [RCV000585275] |
Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3 |
likely pathogenic |
| NM_003590.5(CUL3):c.2246T>C (p.Ile749Thr) |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV004597556]|not provided [RCV000722722] |
Chr2:224474306 [GRCh38]
Chr2:225339023 [GRCh37]
Chr2:2q36.2 |
likely pathogenic|uncertain significance |
| NM_003590.5(CUL3):c.1547_1548dup (p.Ala518fs) |
duplication |
not provided [RCV000731001] |
Chr2:224500424..224500425 [GRCh38]
Chr2:225365141..225365142 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 |
copy number gain |
See cases [RCV000448049] |
Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3 |
pathogenic |
| GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 |
copy number loss |
See cases [RCV000448773] |
Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 |
copy number gain |
See cases [RCV000511816] |
Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3 |
pathogenic |
| GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 |
copy number gain |
See cases [RCV000512009] |
Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003590.5(CUL3):c.2044G>A (p.Gly682Ser) |
single nucleotide variant |
not provided [RCV003327831] |
Chr2:224478331 [GRCh38]
Chr2:225343048 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624051]|Neurodevelopmental delay [RCV002274077] |
Chr2:224497809 [GRCh38]
Chr2:225362526 [GRCh37]
Chr2:2q36.2 |
pathogenic|uncertain significance |
| NM_003590.5(CUL3):c.428G>A (p.Gly143Glu) |
single nucleotide variant |
not provided [RCV003313624] |
Chr2:224514723 [GRCh38]
Chr2:225379440 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1349del (p.Ser450fs) |
deletion |
Neurodevelopmental disorder with or without autism or seizures [RCV003314516] |
Chr2:224503680 [GRCh38]
Chr2:225368397 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer) |
microsatellite |
Inborn genetic diseases [RCV000622486]|not provided [RCV002531880] |
Chr2:224503679..224503680 [GRCh38]
Chr2:225368396..225368397 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1 |
copy number loss |
not provided [RCV000682155] |
Chr2:221439250..226170404 [GRCh37]
Chr2:2q35-36.3 |
pathogenic |
| GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1 |
copy number loss |
not provided [RCV000682158] |
Chr2:220614743..225587770 [GRCh37]
Chr2:2q35-36.2 |
pathogenic |
| GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 |
copy number gain |
not provided [RCV000682170] |
Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3 |
pathogenic |
| NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) |
single nucleotide variant |
Autosomal dominant pseudohypoaldosteronism type 1 [RCV000987041]|NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES [RCV001352922]|not provided [RCV000677281] |
Chr2:224557750 [GRCh38]
Chr2:225422467 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 |
copy number loss |
not provided [RCV000682163] |
Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003590.5(CUL3):c.532G>A (p.Val178Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003246977]|Pseudohypoaldosteronism type 2E [RCV002495859]|not provided [RCV001531349] |
Chr2:224514619 [GRCh38]
Chr2:225379336 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1378-206G>A |
single nucleotide variant |
not provided [RCV001666860] |
Chr2:224503278 [GRCh38]
Chr2:225367995 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.582T>C (p.Gly194=) |
single nucleotide variant |
not provided [RCV000938989] |
Chr2:224513596 [GRCh38]
Chr2:225378313 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1843-248A>T |
single nucleotide variant |
not provided [RCV001641584] |
Chr2:224482326 [GRCh38]
Chr2:225347043 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1894C>T (p.Gln632Ter) |
single nucleotide variant |
not provided [RCV003312523] |
Chr2:224482027 [GRCh38]
Chr2:225346744 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1552G>A (p.Ala518Thr) |
single nucleotide variant |
not provided [RCV003312524] |
Chr2:224500421 [GRCh38]
Chr2:225365138 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp) |
single nucleotide variant |
NK-cell enteropathy [RCV000791308] |
Chr2:224500474 [GRCh38]
Chr2:225365191 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| GRCh37/hg19 2q36.2(chr2:225324757-225458933)x3 |
copy number gain |
not provided [RCV000847947] |
Chr2:225324757..225458933 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| GRCh37/hg19 2q36.2(chr2:225324757-225458933)x3 |
copy number gain |
not provided [RCV000847949] |
Chr2:225324757..225458933 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001137313]|Pseudohypoaldosteronism type 2E [RCV002482260] |
Chr2:224506859 [GRCh38]
Chr2:225371576 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1462A>C (p.Arg488=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001137309] |
Chr2:224502988 [GRCh38]
Chr2:225367705 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 |
copy number gain |
See cases [RCV000790568] |
Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3 |
pathogenic |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787404] |
Chr2:225317517..226707110 [GRCh37]
Chr2:2q36.2-36.3 |
pathogenic |
| GRCh37/hg19 2q36.2(chr2:225376071-225379489)x1 |
copy number loss |
not provided [RCV000997727] |
Chr2:225376071..225379489 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2689T>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139335] |
Chr2:224471556 [GRCh38]
Chr2:225336273 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| GRCh37/hg19 2q36.1-36.3(chr2:225053410-227018472)x1 |
copy number loss |
not provided [RCV000845760] |
Chr2:225053410..227018472 [GRCh37]
Chr2:2q36.1-36.3 |
pathogenic |
| NM_003590.5(CUL3):c.*1943A>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001143763] |
Chr2:224472302 [GRCh38]
Chr2:225337019 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*1883T>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001143764] |
Chr2:224472362 [GRCh38]
Chr2:225337079 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3973T>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001141855] |
Chr2:224470272 [GRCh38]
Chr2:225334989 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*2553A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001141953] |
Chr2:224471692 [GRCh38]
Chr2:225336409 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*84C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142068] |
Chr2:224474161 [GRCh38]
Chr2:225338878 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1647A>G (p.Thr549=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142075]|not provided [RCV002559376] |
Chr2:224497813 [GRCh38]
Chr2:225362530 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.883+3_883+6del |
deletion |
Autism spectrum disorder [RCV003127302] |
Chr2:224511348..224511351 [GRCh38]
Chr2:225376065..225376068 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.391G>A (p.Val131Ile) |
single nucleotide variant |
not provided [RCV003234319] |
Chr2:224514760 [GRCh38]
Chr2:225379477 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.2214A>G (p.Pro738=) |
single nucleotide variant |
not provided [RCV003106674] |
Chr2:224474338 [GRCh38]
Chr2:225339055 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1289G>A (p.Arg430His) |
single nucleotide variant |
CUL3-related disorder [RCV003393031] |
Chr2:224503740 [GRCh38]
Chr2:225368457 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1610+143A>G |
single nucleotide variant |
not provided [RCV001638638] |
Chr2:224500220 [GRCh38]
Chr2:225364937 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.265-157A>T |
single nucleotide variant |
not provided [RCV001713665] |
Chr2:224535798 [GRCh38]
Chr2:225400515 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1611-107CA[11] |
microsatellite |
not provided [RCV001688452] |
Chr2:224497936..224497937 [GRCh38]
Chr2:225362653..225362654 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1377+48T>C |
single nucleotide variant |
not provided [RCV001709027] |
Chr2:224503604 [GRCh38]
Chr2:225368321 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.264+136del |
deletion |
not provided [RCV001621351] |
Chr2:224557523 [GRCh38]
Chr2:225422240 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.433_436del (p.Ile145fs) |
microsatellite |
not provided [RCV001550997] |
Chr2:224514715..224514718 [GRCh38]
Chr2:225379432..225379435 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.883+39C>G |
single nucleotide variant |
not provided [RCV001685893] |
Chr2:224511315 [GRCh38]
Chr2:225376032 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.2030-155_2030-154insTAAA |
insertion |
not provided [RCV001670558] |
Chr2:224478499..224478500 [GRCh38]
Chr2:225343216..225343217 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.540-31_540-28del |
deletion |
not provided [RCV001686220] |
Chr2:224513666..224513669 [GRCh38]
Chr2:225378383..225378386 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.2176-99_2176-98insTTACT |
insertion |
not provided [RCV001695136] |
Chr2:224474474..224474475 [GRCh38]
Chr2:225339191..225339192 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1843-9A>C |
single nucleotide variant |
not provided [RCV000955305]|not specified [RCV004586989] |
Chr2:224482087 [GRCh38]
Chr2:225346804 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.539+4A>G |
single nucleotide variant |
not provided [RCV000895232] |
Chr2:224514608 [GRCh38]
Chr2:225379325 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.*499T>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140223] |
Chr2:224473746 [GRCh38]
Chr2:225338463 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*124C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140227] |
Chr2:224474121 [GRCh38]
Chr2:225338838 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.-7G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140313] |
Chr2:224585016 [GRCh38]
Chr2:225449733 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-118C>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140315] |
Chr2:224585127 [GRCh38]
Chr2:225449844 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-289G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142164]|not provided [RCV003433030] |
Chr2:224585298 [GRCh38]
Chr2:225450015 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*736A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139454] |
Chr2:224473509 [GRCh38]
Chr2:225338226 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1611-232T>C |
single nucleotide variant |
not provided [RCV001689203] |
Chr2:224498081 [GRCh38]
Chr2:225362798 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.17A>G (p.Lys6Arg) |
single nucleotide variant |
not provided [RCV002467086] |
Chr2:224584993 [GRCh38]
Chr2:225449710 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.2092G>A (p.Asp698Asn) |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV002471518]|not provided [RCV002571455] |
Chr2:224478283 [GRCh38]
Chr2:225343000 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1708-292A>G |
single nucleotide variant |
not provided [RCV001675012] |
Chr2:224496258 [GRCh38]
Chr2:225360975 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.2029+232T>C |
single nucleotide variant |
not provided [RCV001621646] |
Chr2:224481660 [GRCh38]
Chr2:225346377 [GRCh37]
Chr2:2q36.2 |
benign |
| NC_000002.12:g.224585652G>T |
single nucleotide variant |
not provided [RCV001657343] |
Chr2:224585652 [GRCh38]
Chr2:225450369 [GRCh37]
Chr2:2q36.2 |
benign |
| NC_000002.12:g.224585444G>C |
single nucleotide variant |
not provided [RCV001714950] |
Chr2:224585444 [GRCh38]
Chr2:225450161 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) |
single nucleotide variant |
Autism spectrum disorder [RCV003127994]|Neurodevelopmental disorder with or without autism or seizures [RCV002290728]|not provided [RCV001593457] |
Chr2:224497824 [GRCh38]
Chr2:225362541 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003590.5(CUL3):c.1206+119G>T |
single nucleotide variant |
not provided [RCV001714955] |
Chr2:224505837 [GRCh38]
Chr2:225370554 [GRCh37]
Chr2:2q36.2 |
benign |
| NC_000002.12:g.224585651G>C |
single nucleotide variant |
not provided [RCV001635765] |
Chr2:224585651 [GRCh38]
Chr2:225450368 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*3922A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001141857] |
Chr2:224470323 [GRCh38]
Chr2:225335040 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*2341G>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001141957] |
Chr2:224471904 [GRCh38]
Chr2:225336621 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1902C>T (p.Leu634=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142072] |
Chr2:224482019 [GRCh38]
Chr2:225346736 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.-220C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142161] |
Chr2:224585229 [GRCh38]
Chr2:225449946 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*915A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001137210] |
Chr2:224473330 [GRCh38]
Chr2:225338047 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*790T>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139451] |
Chr2:224473455 [GRCh38]
Chr2:225338172 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*664T>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139455] |
Chr2:224473581 [GRCh38]
Chr2:225338298 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.543C>T (p.Gly181=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139552]|Pseudohypoaldosteronism type 2E [RCV002497550]|not provided [RCV003558703] |
Chr2:224513635 [GRCh38]
Chr2:225378352 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.-143G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140317] |
Chr2:224585152 [GRCh38]
Chr2:225449869 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.-143G>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140316] |
Chr2:224585152 [GRCh38]
Chr2:225449869 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-246C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142162]|not provided [RCV003433029] |
Chr2:224585255 [GRCh38]
Chr2:225449972 [GRCh37]
Chr2:2q36.2 |
likely benign|uncertain significance |
| NM_003590.5(CUL3):c.-317C>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142166] |
Chr2:224585326 [GRCh38]
Chr2:225450043 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-169C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140318] |
Chr2:224585178 [GRCh38]
Chr2:225449895 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-173G>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140319] |
Chr2:224585182 [GRCh38]
Chr2:225449899 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.264+295del |
deletion |
not provided [RCV001693183] |
Chr2:224557364 [GRCh38]
Chr2:225422081 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.2030-146C>T |
single nucleotide variant |
not provided [RCV001691129] |
Chr2:224478491 [GRCh38]
Chr2:225343208 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.883+177C>T |
single nucleotide variant |
not provided [RCV001695306] |
Chr2:224511177 [GRCh38]
Chr2:225375894 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.67-11683G>C |
single nucleotide variant |
not provided [RCV001649047] |
Chr2:224569539 [GRCh38]
Chr2:225434256 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.379-244A>G |
single nucleotide variant |
not provided [RCV001678645] |
Chr2:224515016 [GRCh38]
Chr2:225379733 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.378+54_378+59del |
microsatellite |
not provided [RCV001680940] |
Chr2:224535469..224535474 [GRCh38]
Chr2:225400186..225400191 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1486-141del |
deletion |
not provided [RCV001725354] |
Chr2:224500628 [GRCh38]
Chr2:225365345 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1377+275C>A |
single nucleotide variant |
not provided [RCV001666569] |
Chr2:224503377 [GRCh38]
Chr2:225368094 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.883+37C>T |
single nucleotide variant |
not provided [RCV001645573] |
Chr2:224511317 [GRCh38]
Chr2:225376034 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*3134A>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001137089] |
Chr2:224471111 [GRCh38]
Chr2:225335828 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1293T>C (p.Tyr431=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001137311] |
Chr2:224503736 [GRCh38]
Chr2:225368453 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1036T>C (p.Leu346=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001137312]|not provided [RCV002556921] |
Chr2:224506126 [GRCh38]
Chr2:225370843 [GRCh37]
Chr2:2q36.2 |
likely benign|uncertain significance |
| NM_003590.5(CUL3):c.1401G>A (p.Thr467=) |
single nucleotide variant |
CUL3-related disorder [RCV003938488]|Pseudohypoaldosteronism type 2E [RCV001137310]|not provided [RCV002556920] |
Chr2:224503049 [GRCh38]
Chr2:225367766 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.884-5T>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001137314] |
Chr2:224507008 [GRCh38]
Chr2:225371725 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3958C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001141856] |
Chr2:224470287 [GRCh38]
Chr2:225335004 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3810C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001141858] |
Chr2:224470435 [GRCh38]
Chr2:225335152 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-291A>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142165] |
Chr2:224585300 [GRCh38]
Chr2:225450017 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*784G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139452] |
Chr2:224473461 [GRCh38]
Chr2:225338178 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*3596A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001143653] |
Chr2:224470649 [GRCh38]
Chr2:225335366 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs) |
microsatellite |
Abnormal cardiovascular system morphology [RCV002463785]|not provided [RCV001171551] |
Chr2:224500421..224500424 [GRCh38]
Chr2:225365138..225365141 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic |
| NM_003590.5(CUL3):c.-201C>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142160]|not provided [RCV004694880] |
Chr2:224585210 [GRCh38]
Chr2:225449927 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-270G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142163] |
Chr2:224585279 [GRCh38]
Chr2:225449996 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*540G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140221] |
Chr2:224473705 [GRCh38]
Chr2:225338422 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*527A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140222] |
Chr2:224473718 [GRCh38]
Chr2:225338435 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.*496A>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140224] |
Chr2:224473749 [GRCh38]
Chr2:225338466 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-51C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140314] |
Chr2:224585060 [GRCh38]
Chr2:225449777 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.-185G>C |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001140320] |
Chr2:224585194 [GRCh38]
Chr2:225449911 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1708-14T>A |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001142073]|not provided [RCV002557022] |
Chr2:224495980 [GRCh38]
Chr2:225360697 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.*782G>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139453] |
Chr2:224473463 [GRCh38]
Chr2:225338180 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.21C>T (p.Gly7=) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001139556]|not provided [RCV003565467] |
Chr2:224584989 [GRCh38]
Chr2:225449706 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.*2008G>T |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001143762] |
Chr2:224472237 [GRCh38]
Chr2:225336954 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1358dup (p.Asn453fs) |
duplication |
Neurodevelopmental disorder with or without autism or seizures [RCV003151844]|Pseudohypoaldosteronism type 2E [RCV001251184] |
Chr2:224503670..224503671 [GRCh38]
Chr2:225368387..225368388 [GRCh37]
Chr2:2q36.2 |
likely pathogenic|uncertain significance |
| NM_003590.5(CUL3):c.743_744dup (p.Met249Ter) |
duplication |
Intellectual disability [RCV001252214] |
Chr2:224511492..224511493 [GRCh38]
Chr2:225376209..225376210 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.641C>G (p.Ala214Gly) |
single nucleotide variant |
Pseudohypoaldosteronism type 2E [RCV001253061] |
Chr2:224513537 [GRCh38]
Chr2:225378254 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.602_603dup (p.Glu202fs) |
duplication |
Intellectual disability [RCV001260753] |
Chr2:224513574..224513575 [GRCh38]
Chr2:225378291..225378292 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1445_1446del (p.Thr482fs) |
microsatellite |
Intellectual disability [RCV001260629] |
Chr2:224503004..224503005 [GRCh38]
Chr2:225367721..225367722 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.827_828del (p.Ile276fs) |
microsatellite |
Neurodevelopmental abnormality [RCV001264679] |
Chr2:224511409..224511410 [GRCh38]
Chr2:225376126..225376127 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.883+1G>A |
single nucleotide variant |
not provided [RCV001268542] |
Chr2:224511353 [GRCh38]
Chr2:225376070 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3 |
pathogenic |
| NM_003590.5(CUL3):c.805_850dup (p.Leu284fs) |
duplication |
not provided [RCV001268191] |
Chr2:224511386..224511387 [GRCh38]
Chr2:225376103..225376104 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.1386del (p.Cys462fs) |
deletion |
not provided [RCV001268449] |
Chr2:224503064 [GRCh38]
Chr2:225367781 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.2175+1G>C |
single nucleotide variant |
not provided [RCV001268756] |
Chr2:224478199 [GRCh38]
Chr2:225342916 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.854T>C (p.Val285Ala) |
single nucleotide variant |
Neurodevelopmental disorder without autism with seizures [RCV001352924] |
Chr2:224511383 [GRCh38]
Chr2:225376100 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.137del (p.Arg46fs) |
deletion |
Neurodevelopmental disorder without autism with seizures [RCV001352925] |
Chr2:224557786 [GRCh38]
Chr2:225422503 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1239del (p.Asp413fs) |
deletion |
NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES [RCV001352926] |
Chr2:224503790 [GRCh38]
Chr2:225368507 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1758_1759insTG (p.Thr587Ter) AND NEURODEVELOPMENTAL DISORDER WITH AUTISM |
insertion |
NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES [RCV001352927] |
Chr2:224495915..224495916 [GRCh38]
Chr2:225360632..225360633 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.67-11876C>G |
single nucleotide variant |
not provided [RCV001356186] |
Chr2:224569732 [GRCh38]
Chr2:225434449 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 |
copy number loss |
not provided [RCV001537914] |
Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3 |
pathogenic |
| NM_003590.5(CUL3):c.596C>G (p.Ser199Ter) |
single nucleotide variant |
NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES [RCV001352923] |
Chr2:224513582 [GRCh38]
Chr2:225378299 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003590.5(CUL3):c.264+1G>C |
single nucleotide variant |
not provided [RCV001780900] |
Chr2:224557658 [GRCh38]
Chr2:225422375 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.1708-297A>G |
single nucleotide variant |
not provided [RCV001535134] |
Chr2:224496263 [GRCh38]
Chr2:225360980 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.540-147del |
deletion |
not provided [RCV001654760] |
Chr2:224513785 [GRCh38]
Chr2:225378502 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1708-302A>G |
single nucleotide variant |
not provided [RCV001684631] |
Chr2:224496268 [GRCh38]
Chr2:225360985 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.383G>A (p.Arg128His) |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV001779291]|not provided [RCV001665422] |
Chr2:224514768 [GRCh38]
Chr2:225379485 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_003590.5(CUL3):c.2175+320T>A |
single nucleotide variant |
not provided [RCV001611777] |
Chr2:224477880 [GRCh38]
Chr2:225342597 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1610+24T>C |
single nucleotide variant |
not provided [RCV001686935] |
Chr2:224500339 [GRCh38]
Chr2:225365056 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1486-157dup |
duplication |
not provided [RCV001674303] |
Chr2:224500627..224500628 [GRCh38]
Chr2:225365344..225365345 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1378-207G>C |
single nucleotide variant |
not provided [RCV001540989] |
Chr2:224503279 [GRCh38]
Chr2:225367996 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.998_1000del (p.Gly333del) |
deletion |
not provided [RCV001727185] |
Chr2:224506887..224506889 [GRCh38]
Chr2:225371604..225371606 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.396A>G (p.Gln132=) |
single nucleotide variant |
not provided [RCV003108726] |
Chr2:224514755 [GRCh38]
Chr2:225379472 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.223A>C (p.Thr75Pro) |
single nucleotide variant |
not provided [RCV001730440] |
Chr2:224557700 [GRCh38]
Chr2:225422417 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.477del (p.His160fs) |
deletion |
not provided [RCV001727186] |
Chr2:224514674 [GRCh38]
Chr2:225379391 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.562C>T (p.Gln188Ter) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001780015] |
Chr2:224513616 [GRCh38]
Chr2:225378333 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.578T>G (p.Leu193Ter) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV002272969] |
Chr2:224513600 [GRCh38]
Chr2:225378317 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.2242del (p.Ile749fs) |
deletion |
not provided [RCV001772709] |
Chr2:224474310 [GRCh38]
Chr2:225339027 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1388G>A (p.Gly463Glu) |
single nucleotide variant |
not provided [RCV001771421] |
Chr2:224503062 [GRCh38]
Chr2:225367779 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1248G>A (p.Met416Ile) |
single nucleotide variant |
not provided [RCV001765672] |
Chr2:224503781 [GRCh38]
Chr2:225368498 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.964dup (p.Arg322fs) |
duplication |
not provided [RCV001752552] |
Chr2:224506922..224506923 [GRCh38]
Chr2:225371639..225371640 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1843-3C>A |
single nucleotide variant |
not provided [RCV001751847] |
Chr2:224482081 [GRCh38]
Chr2:225346798 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1559C>T (p.Pro520Leu) |
single nucleotide variant |
not provided [RCV001761241] |
Chr2:224500414 [GRCh38]
Chr2:225365131 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.655-2A>G |
single nucleotide variant |
not provided [RCV001752864] |
Chr2:224511584 [GRCh38]
Chr2:225376301 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1206+1G>T |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV003151873]|not provided [RCV001970030] |
Chr2:224505955 [GRCh38]
Chr2:225370672 [GRCh37]
Chr2:2q36.2 |
pathogenic|uncertain significance |
| GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074) |
copy number loss |
not specified [RCV002053287] |
Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1 |
pathogenic |
| NM_003590.5(CUL3):c.1108A>C (p.Ile370Leu) |
single nucleotide variant |
not provided [RCV001927334] |
Chr2:224506054 [GRCh38]
Chr2:225370771 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.74T>C (p.Met25Thr) |
single nucleotide variant |
not provided [RCV001847461] |
Chr2:224557849 [GRCh38]
Chr2:225422566 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.514dup (p.Glu172fs) |
duplication |
not provided [RCV002007336] |
Chr2:224514636..224514637 [GRCh38]
Chr2:225379353..225379354 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) |
copy number loss |
not specified [RCV002053285] |
Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3 |
pathogenic |
| NC_000002.11:g.(?_224623432)_(225449726_?)dup |
duplication |
not provided [RCV001962369] |
Chr2:224623432..225449726 [GRCh37]
Chr2:2q36.1-36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.66+5_66+10del |
deletion |
not provided [RCV001884937] |
Chr2:224584934..224584939 [GRCh38]
Chr2:225449651..225449656 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.883+1G>T |
single nucleotide variant |
not provided [RCV001997333] |
Chr2:224511353 [GRCh38]
Chr2:225376070 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1030-6T>C |
single nucleotide variant |
Inborn genetic diseases [RCV003070586]|not provided [RCV002118735] |
Chr2:224506138 [GRCh38]
Chr2:225370855 [GRCh37]
Chr2:2q36.2 |
likely benign|uncertain significance |
| NC_000002.11:g.(?_225400225)_(225400378_?)del |
deletion |
not provided [RCV003113288] |
Chr2:225400225..225400378 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1209A>G (p.Leu403=) |
single nucleotide variant |
not provided [RCV003117952] |
Chr2:224503820 [GRCh38]
Chr2:225368537 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.531_533del (p.Val178del) |
deletion |
not provided [RCV003123309] |
Chr2:224514618..224514620 [GRCh38]
Chr2:225379335..225379337 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.483A>G (p.Leu161=) |
single nucleotide variant |
not provided [RCV003121068] |
Chr2:224514668 [GRCh38]
Chr2:225379385 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.2120T>C (p.Ile707Thr) |
single nucleotide variant |
not provided [RCV003149217] |
Chr2:224478255 [GRCh38]
Chr2:225342972 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1629_1630del (p.His543fs) |
microsatellite |
Neurodevelopmental disorder with or without autism or seizures [RCV003147920]|Pseudohypoaldosteronism type 2E [RCV003147919] |
Chr2:224497830..224497831 [GRCh38]
Chr2:225362547..225362548 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.185A>G (p.Tyr62Cys) |
single nucleotide variant |
not provided [RCV003129139] |
Chr2:224557738 [GRCh38]
Chr2:225422455 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.563A>G (p.Gln188Arg) |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV002227684]|Pseudohypoaldosteronism type 2E [RCV002505889]|not provided [RCV003089222] |
Chr2:224513615 [GRCh38]
Chr2:225378332 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1538G>A (p.Trp513Ter) |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV003151940] |
Chr2:224500435 [GRCh38]
Chr2:225365152 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.485G>C (p.Arg162Pro) |
single nucleotide variant |
not provided [RCV003235817] |
Chr2:224514666 [GRCh38]
Chr2:225379383 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1294T>G (p.Tyr432Asp) |
single nucleotide variant |
not provided [RCV002274777] |
Chr2:224503735 [GRCh38]
Chr2:225368452 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1035_1036dup (p.Leu346fs) |
duplication |
Neurodevelopmental disorder with or without autism or seizures [RCV002288285] |
Chr2:224506125..224506126 [GRCh38]
Chr2:225370842..225370843 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.*669T>C |
single nucleotide variant |
not provided [RCV002293043] |
Chr2:224473576 [GRCh38]
Chr2:225338293 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.909dup (p.Ser304Ter) |
duplication |
Neurodevelopmental disorder with or without autism or seizures [RCV002289085] |
Chr2:224506977..224506978 [GRCh38]
Chr2:225371694..225371695 [GRCh37]
Chr2:2q36.2 |
likely pathogenic |
| NM_003590.5(CUL3):c.475G>A (p.Asp159Asn) |
single nucleotide variant |
not provided [RCV003156712] |
Chr2:224514676 [GRCh38]
Chr2:225379393 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1256T>G (p.Phe419Cys) |
single nucleotide variant |
not specified [RCV004587683] |
Chr2:224503773 [GRCh38]
Chr2:225368490 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.652C>T (p.Gln218Ter) |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV002470226] |
Chr2:224513526 [GRCh38]
Chr2:225378243 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.264+2T>G |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV002468694] |
Chr2:224557657 [GRCh38]
Chr2:225422374 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.908T>G (p.Phe303Cys) |
single nucleotide variant |
not provided [RCV003128992] |
Chr2:224506979 [GRCh38]
Chr2:225371696 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1377+1G>A |
single nucleotide variant |
CUL3-related disorder [RCV004529127]|not provided [RCV003318717] |
Chr2:224503651 [GRCh38]
Chr2:225368368 [GRCh37]
Chr2:2q36.2 |
pathogenic|likely pathogenic |
| NM_003590.5(CUL3):c.1849C>G (p.Gln617Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002749519] |
Chr2:224482072 [GRCh38]
Chr2:225346789 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1058A>C (p.Asp353Ala) |
single nucleotide variant |
not provided [RCV002881365] |
Chr2:224506104 [GRCh38]
Chr2:225370821 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.2175+2_2175+3dup |
duplication |
not provided [RCV002462769] |
Chr2:224478196..224478197 [GRCh38]
Chr2:225342913..225342914 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.796A>C (p.Arg266=) |
single nucleotide variant |
not provided [RCV002967770] |
Chr2:224511441 [GRCh38]
Chr2:225376158 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.812A>G (p.Lys271Arg) |
single nucleotide variant |
not provided [RCV003095479] |
Chr2:224511425 [GRCh38]
Chr2:225376142 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.2138C>G (p.Ser713Cys) |
single nucleotide variant |
not provided [RCV002842018] |
Chr2:224478237 [GRCh38]
Chr2:225342954 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.622C>A (p.Pro208Thr) |
single nucleotide variant |
not provided [RCV002690367] |
Chr2:224513556 [GRCh38]
Chr2:225378273 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.443G>A (p.Arg148Gln) |
single nucleotide variant |
not provided [RCV003011767] |
Chr2:224514708 [GRCh38]
Chr2:225379425 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.312G>A (p.Thr104=) |
single nucleotide variant |
not provided [RCV002971693] |
Chr2:224535594 [GRCh38]
Chr2:225400311 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.458G>A (p.Arg153His) |
single nucleotide variant |
not provided [RCV003011948] |
Chr2:224514693 [GRCh38]
Chr2:225379410 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.442C>T (p.Arg148Ter) |
single nucleotide variant |
not provided [RCV002991360] |
Chr2:224514709 [GRCh38]
Chr2:225379426 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.768G>A (p.Thr256=) |
single nucleotide variant |
not provided [RCV003074632] |
Chr2:224511469 [GRCh38]
Chr2:225376186 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.76G>T (p.Asp26Tyr) |
single nucleotide variant |
not provided [RCV002880228] |
Chr2:224557847 [GRCh38]
Chr2:225422564 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1610+15G>C |
single nucleotide variant |
not provided [RCV002614252] |
Chr2:224500348 [GRCh38]
Chr2:225365065 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.117_118del (p.Ala40fs) |
deletion |
not provided [RCV003095838] |
Chr2:224557805..224557806 [GRCh38]
Chr2:225422522..225422523 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.696A>G (p.Val232=) |
single nucleotide variant |
not provided [RCV002512021] |
Chr2:224511541 [GRCh38]
Chr2:225376258 [GRCh37]
Chr2:2q36.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003590.5(CUL3):c.1358del (p.Asn453fs) |
deletion |
Inborn genetic diseases [RCV004612209]|not provided [RCV002618025] |
Chr2:224503671 [GRCh38]
Chr2:225368388 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.264+12dup |
duplication |
not provided [RCV002572110] |
Chr2:224557646..224557647 [GRCh38]
Chr2:225422363..225422364 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.2030-19G>A |
single nucleotide variant |
not provided [RCV002621846] |
Chr2:224478364 [GRCh38]
Chr2:225343081 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.44A>G (p.Lys15Arg) |
single nucleotide variant |
not provided [RCV003080110] |
Chr2:224584966 [GRCh38]
Chr2:225449683 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.24G>C (p.Thr8=) |
single nucleotide variant |
not provided [RCV002619626] |
Chr2:224584986 [GRCh38]
Chr2:225449703 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1206+3_1206+4insTAC |
insertion |
not provided [RCV002823968] |
Chr2:224505952..224505953 [GRCh38]
Chr2:225370669..225370670 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1708-13A>T |
single nucleotide variant |
not provided [RCV002569662] |
Chr2:224495979 [GRCh38]
Chr2:225360696 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1485+7T>G |
single nucleotide variant |
not provided [RCV002952502] |
Chr2:224502958 [GRCh38]
Chr2:225367675 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.1725T>A (p.Val575=) |
single nucleotide variant |
not provided [RCV003002078] |
Chr2:224495949 [GRCh38]
Chr2:225360666 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1056C>T (p.Phe352=) |
single nucleotide variant |
not provided [RCV002909966] |
Chr2:224506106 [GRCh38]
Chr2:225370823 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.540-5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002692403] |
Chr2:224513643 [GRCh38]
Chr2:225378360 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.268C>T (p.Arg90Ter) |
single nucleotide variant |
not provided [RCV002509922] |
Chr2:224535638 [GRCh38]
Chr2:225400355 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1043T>C (p.Leu348Pro) |
single nucleotide variant |
not provided [RCV002867894] |
Chr2:224506119 [GRCh38]
Chr2:225370836 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.480T>C (p.His160=) |
single nucleotide variant |
not provided [RCV002639249] |
Chr2:224514671 [GRCh38]
Chr2:225379388 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1630_1648dup (p.Leu550fs) |
duplication |
not provided [RCV002871038] |
Chr2:224497811..224497812 [GRCh38]
Chr2:225362528..225362529 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1740A>G (p.Ala580=) |
single nucleotide variant |
not provided [RCV002570897] |
Chr2:224495934 [GRCh38]
Chr2:225360651 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.2176-20C>G |
single nucleotide variant |
not provided [RCV002695742] |
Chr2:224474396 [GRCh38]
Chr2:225339113 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1637G>A (p.Arg546Gln) |
single nucleotide variant |
not provided [RCV002710326] |
Chr2:224497823 [GRCh38]
Chr2:225362540 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1609A>G (p.Arg537Gly) |
single nucleotide variant |
Neurodevelopmental disorder with or without autism or seizures [RCV003985030]|not provided [RCV003025532] |
Chr2:224500364 [GRCh38]
Chr2:225365081 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.826A>G (p.Ile276Val) |
single nucleotide variant |
not provided [RCV003085930] |
Chr2:224511411 [GRCh38]
Chr2:225376128 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1134C>T (p.Leu378=) |
single nucleotide variant |
not provided [RCV002786770] |
Chr2:224506028 [GRCh38]
Chr2:225370745 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.227G>C (p.Gly76Ala) |
single nucleotide variant |
not provided [RCV003055930] |
Chr2:224557696 [GRCh38]
Chr2:225422413 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1893dup (p.Gln632fs) |
duplication |
not provided [RCV002829797] |
Chr2:224482027..224482028 [GRCh38]
Chr2:225346744..225346745 [GRCh37]
Chr2:2q36.2 |
pathogenic |
| NM_003590.5(CUL3):c.1864A>G (p.Ile622Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002830296] |
Chr2:224482057 [GRCh38]
Chr2:225346774 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1061G>A (p.Arg354His) |
single nucleotide variant |
not provided [RCV002642312] |
Chr2:224506101 [GRCh38]
Chr2:225370818 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1207-5T>G |
single nucleotide variant |
not provided [RCV002852322] |
Chr2:224503827 [GRCh38]
Chr2:225368544 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.539+12_539+15del |
microsatellite |
not provided [RCV002790080]|not specified [RCV004587378] |
Chr2:224514597..224514600 [GRCh38]
Chr2:225379314..225379317 [GRCh37]
Chr2:2q36.2 |
benign|likely benign |
| NM_003590.5(CUL3):c.415G>A (p.Val139Ile) |
single nucleotide variant |
not provided [RCV003025720] |
Chr2:224514736 [GRCh38]
Chr2:225379453 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.696A>T (p.Val232=) |
single nucleotide variant |
not provided [RCV002574108] |
Chr2:224511541 [GRCh38]
Chr2:225376258 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1306T>G (p.Leu436Val) |
single nucleotide variant |
not provided [RCV002625535] |
Chr2:224503723 [GRCh38]
Chr2:225368440 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1146C>A (p.Ser382=) |
single nucleotide variant |
not provided [RCV002894130] |
Chr2:224506016 [GRCh38]
Chr2:225370733 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.423T>C (p.Asn141=) |
single nucleotide variant |
not provided [RCV002745392] |
Chr2:224514728 [GRCh38]
Chr2:225379445 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.66+16G>C |
single nucleotide variant |
not provided [RCV002596902] |
Chr2:224584928 [GRCh38]
Chr2:225449645 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.883+14A>G |
single nucleotide variant |
not provided [RCV002711971] |
Chr2:224511340 [GRCh38]
Chr2:225376057 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.379-11T>G |
single nucleotide variant |
not provided [RCV002631312] |
Chr2:224514783 [GRCh38]
Chr2:225379500 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1590T>G (p.His530Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002812552] |
Chr2:224500383 [GRCh38]
Chr2:225365100 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.539+5A>G |
single nucleotide variant |
not provided [RCV003047788] |
Chr2:224514607 [GRCh38]
Chr2:225379324 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1893A>G (p.Leu631=) |
single nucleotide variant |
not provided [RCV002599691] |
Chr2:224482028 [GRCh38]
Chr2:225346745 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1448C>T (p.Thr483Met) |
single nucleotide variant |
not provided [RCV002937595] |
Chr2:224503002 [GRCh38]
Chr2:225367719 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.115A>C (p.Asn39His) |
single nucleotide variant |
not provided [RCV003087072] |
Chr2:224557808 [GRCh38]
Chr2:225422525 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.2285A>G (p.Lys762Arg) |
single nucleotide variant |
not provided [RCV002630585] |
Chr2:224474267 [GRCh38]
Chr2:225338984 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.67-10G>A |
single nucleotide variant |
not provided [RCV002579338] |
Chr2:224557866 [GRCh38]
Chr2:225422583 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.1486-3T>A |
single nucleotide variant |
not provided [RCV003089324] |
Chr2:224500490 [GRCh38]
Chr2:225365207 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.2030-3T>C |
single nucleotide variant |
not provided [RCV002577994] |
Chr2:224478348 [GRCh38]
Chr2:225343065 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.137G>A (p.Arg46His) |
single nucleotide variant |
not provided [RCV002598952] |
Chr2:224557786 [GRCh38]
Chr2:225422503 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.1091G>A (p.Arg364His) |
single nucleotide variant |
not provided [RCV002627587] |
Chr2:224506071 [GRCh38]
Chr2:225370788 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.2196G>C (p.Ala732=) |
single nucleotide variant |
not provided [RCV003061176] |
Chr2:224474356 [GRCh38]
Chr2:225339073 [GRCh37]
Chr2:2q36.2 |
benign |
| NM_003590.5(CUL3):c.668A>C (p.Lys223Thr) |
single nucleotide variant |
not provided [RCV002671622] |
Chr2:224511569 [GRCh38]
Chr2:225376286 [GRCh37]
Chr2:2q36.2 |
likely benign|uncertain significance |
| NM_003590.5(CUL3):c.67-16C>T |
single nucleotide variant |
not provided [RCV002580286] |
Chr2:224557872 [GRCh38]
Chr2:225422589 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.591A>C (p.Gly197=) |
single nucleotide variant |
not provided [RCV003089882] |
Chr2:224513587 [GRCh38]
Chr2:225378304 [GRCh37]
Chr2:2q36.2 |
likely benign |
| NM_003590.5(CUL3):c.932A>G (p.Lys311Arg) |
single nucleotide variant |
not provided [RCV002675678] |
Chr2:224506955 [GRCh38]
Chr2:225371672 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
| NM_003590.5(CUL3):c.265G>A (p.Val89Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002935391] |
Chr2:224535641 [GRCh38]
Chr2:225400358 [GRCh37]
Chr2:2q36.2 |
uncertain significance |
