| - GRCh37:
- Chr15:42858959-44139304
- GRCh38:
- Chr15:42566761-43847106
| ADAL, CATSPER2, CCNDBP1, CDAN1, CKMT1A, CKMT1B, ELL3, EPB42, HAUS2, HYPK, LCMT2, LOC125078066, LOC125078067, LOC126862116, LOC126862117, LOC130056926, LOC130056927, LOC130056928, LOC130056929, LOC130056930, LOC130056931, LOC130056932, LOC130056933, LOC130056934, LOC130056935, LOC130056936, LOC130056937, LOC130056938, LOC130056939, LOC130056940, LOC130056941, LOC130056942, LOC130056943, LOC130056944, LOC130056945, LOC130056946, LOC130056947, LOC130056948, LOC130056949, LOC130056950, LOC130056951, LOC130056952, LOC130056953, LOC130056954, LOC130056955, LOC130056956, LOC130056957, LOC130056958, LOC130056959, LOC130056960, LOC130056961, MAP1A, MFAP1, MIR1282, PDIA3, PPIP5K1, SERF2, SERF2-C15ORF63, SERINC4, STARD9, STRC, TGM5, TGM7, TMEM62, TP53BP1, TTBK2, TTBK2-AS1, TUBGCP4, UBR1, WDR76, ZSCAN29 | | See cases | Likely pathogenic (Nov 4, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:43077825-43634458
- GRCh38:
- Chr15:42785627-43342260
| ADAL, CCNDBP1, EPB42, LCMT2, LOC125078066, LOC125078067, LOC130056934, LOC130056935, LOC130056936, LOC130056937, LOC130056938, LOC130056939, LOC130056940, LOC130056941, LOC130056942, TGM5, TGM7, TMEM62, TTBK2, UBR1 | | See cases | Pathogenic (Dec 3, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr15:43237203
- GRCh38:
- Chr15:42945005
| UBR1 | | not provided | Benign (Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43237414
- GRCh38:
- Chr15:42945216
| UBR1 | | not provided | Benign (May 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43237557
- GRCh38:
- Chr15:42945359
| UBR1 | M1740I | not provided | Uncertain significance (Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43237572
- GRCh38:
- Chr15:42945374
| UBR1 | | not specified, not provided | Benign (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43237575
- GRCh38:
- Chr15:42945377
| UBR1 | S1734R | not provided | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43237583
- GRCh38:
- Chr15:42945385
| UBR1 | A1732S | not provided, Inborn genetic diseases | Uncertain significance (Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43237594
- GRCh38:
- Chr15:42945396
| UBR1 | I1728T | Inborn genetic diseases | Uncertain significance (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43237630
- GRCh38:
- Chr15:42945432
| UBR1 | R1716Q | not provided, Inborn genetic diseases | Uncertain significance (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43237642
- GRCh38:
- Chr15:42945444
| UBR1 | R1712H | not provided | Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:43237649
- GRCh38:
- Chr15:42945451
| UBR1 | L1710V | not provided | Uncertain significance (Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43237664
- GRCh38:
- Chr15:42945466
| UBR1 | G1705S | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr15:43237676
- GRCh38:
- Chr15:42945478
| UBR1 | | not provided | Likely benign (Aug 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43237814-43237823
- GRCh38:
- Chr15:42945616-42945625
| UBR1 | | not provided | Benign (May 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242268
- GRCh38:
- Chr15:42950070
| UBR1 | | not provided | Benign (May 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242269
- GRCh38:
- Chr15:42950071
| UBR1 | | not provided | Benign (May 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242476
- GRCh38:
- Chr15:42950278
| UBR1 | T1698A | not provided | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242506
- GRCh38:
- Chr15:42950308
| UBR1 | P1688S | not provided | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242547
- GRCh38:
- Chr15:42950349
| UBR1 | R1674Q | not provided | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242549
- GRCh38:
- Chr15:42950351
| UBR1 | C1673W | Johanson-Blizzard syndrome | Uncertain significance (May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242559-43242560
- GRCh38:
- Chr15:42950361-42950362
| UBR1 | I1670fs | not provided | Pathogenic (May 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43242568
- GRCh38:
- Chr15:42950370
| UBR1 | | not provided | Likely benign (Aug 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244510
- GRCh38:
- Chr15:42952312
| UBR1 | L1658F | not provided | Uncertain significance (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244512
- GRCh38:
- Chr15:42952314
| UBR1 | A1657V | not provided | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244514
- GRCh38:
- Chr15:42952316
| UBR1 | | not provided | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244536
- GRCh38:
- Chr15:42952338
| UBR1 | E1649G | not provided | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244538
- GRCh38:
- Chr15:42952340
| UBR1 | | not provided | Likely benign (Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244544
- GRCh38:
- Chr15:42952346
| UBR1 | | not specified, not provided | Benign (Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43244587
- GRCh38:
- Chr15:42952389
| UBR1 | A1632V | not provided | Conflicting interpretations of pathogenicity (Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:43244614
- GRCh38:
- Chr15:42952416
| UBR1 | H1623R | not provided | Uncertain significance (Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244631
- GRCh38:
- Chr15:42952433
| UBR1 | | not provided | Likely benign (May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244635
- GRCh38:
- Chr15:42952437
| UBR1 | S1616F | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43244699
- GRCh38:
- Chr15:42952501
| UBR1 | | not provided | Benign (May 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43250212
- GRCh38:
- Chr15:42958014
| UBR1 | R1612G | not specified, not provided | Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43250243
- GRCh38:
- Chr15:42958045
| UBR1 | | not specified, not provided | Benign/Likely benign (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43252764
- GRCh38:
- Chr15:42960566
| UBR1 | | not provided | Benign (May 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43252850
- GRCh38:
- Chr15:42960652
| UBR1 | V1584M | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43252851
- GRCh38:
- Chr15:42960653
| UBR1 | | not provided | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43252855
- GRCh38:
- Chr15:42960657
| UBR1 | N1582fs | Johanson-Blizzard syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:43252864
- GRCh38:
- Chr15:42960666
| UBR1 | K1579R | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43253105
- GRCh38:
- Chr15:42960907
| UBR1 | | not provided | Benign (May 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256121
- GRCh38:
- Chr15:42963923
| UBR1 | | not provided, Johanson-Blizzard syndrome, not specified
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43256139
- GRCh38:
- Chr15:42963941
| UBR1 | L1565R | not provided | Likely benign (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256144
- GRCh38:
- Chr15:42963946
| UBR1 | | not provided | Likely benign (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256153
- GRCh38:
- Chr15:42963955
| UBR1 | | not provided | Likely benign (Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256180
- GRCh38:
- Chr15:42963982
| UBR1 | | not provided | Likely benign (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256191
- GRCh38:
- Chr15:42963993
| UBR1 | T1548A | not specified, not provided | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43256202
- GRCh38:
- Chr15:42964004
| UBR1 | L1544P | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256221
- GRCh38:
- Chr15:42964023
| UBR1 | S1538R | Inborn genetic diseases | Likely benign (Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256230-43256232
- GRCh38:
- Chr15:42964032-42964034
| UBR1 | E1534del | not provided | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43256248
- GRCh38:
- Chr15:42964050
| UBR1 | | not provided | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43258361
- GRCh38:
- Chr15:42966163
| UBR1 | | not provided | Likely benign (Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43258371
- GRCh38:
- Chr15:42966173
| UBR1 | P1524L | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43258384
- GRCh38:
- Chr15:42966186
| UBR1 | L1520F | Inborn genetic diseases | Uncertain significance (Mar 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43258418
- GRCh38:
- Chr15:42966220
| UBR1 | Y1508* | Johanson-Blizzard syndrome | Pathogenic (May 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43262708
- GRCh38:
- Chr15:42970510
| UBR1 | | not provided | Likely benign (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43262751
- GRCh38:
- Chr15:42970553
| UBR1 | S1475C | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43262758
- GRCh38:
- Chr15:42970560
| UBR1 | A1473T | not provided | Likely benign (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43262784
- GRCh38:
- Chr15:42970586
| UBR1 | Q1464P | Inborn genetic diseases | Uncertain significance (Jun 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43262924-43262925
- GRCh38:
- Chr15:42970726-42970727
| UBR1 | | not provided | Benign (May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43268787-43268788
- GRCh38:
- Chr15:42976589-42976590
| UBR1 | | not provided | Benign (May 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43268897
- GRCh38:
- Chr15:42976699
| UBR1 | | not provided | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43268925
- GRCh38:
- Chr15:42976727
| UBR1 | | not provided | Likely benign (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43268964
- GRCh38:
- Chr15:42976766
| UBR1 | | not provided | Likely benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43268974-43268975
- GRCh38:
- Chr15:42976776-42976777
| UBR1 | Y1437fs | not provided | Pathogenic (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43268993
- GRCh38:
- Chr15:42976795
| UBR1 | S1431P | not provided | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43269004
- GRCh38:
- Chr15:42976806
| UBR1 | S1427F | not provided | Uncertain significance (Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43269011
- GRCh38:
- Chr15:42976813
| UBR1 | Q1425E | Inborn genetic diseases | Uncertain significance (May 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43269068
- GRCh38:
- Chr15:42976870
| UBR1 | | Inborn genetic diseases | Uncertain significance (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43269082
- GRCh38:
- Chr15:42976884
| UBR1 | | not provided | Likely benign (Feb 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43269881
- GRCh38:
- Chr15:42977683
| UBR1 | | not provided | Benign (May 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43270083
- GRCh38:
- Chr15:42977885
| UBR1 | V1405I | not provided | Uncertain significance (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43270131
- GRCh38:
- Chr15:42977933
| UBR1 | I1389L | not provided | Likely benign (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43276101
- GRCh38:
- Chr15:42983903
| UBR1 | | not provided | Benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43276107
- GRCh38:
- Chr15:42983909
| UBR1 | R1380C | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43276113
- GRCh38:
- Chr15:42983915
| UBR1 | L1378V | not provided | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43276138
- GRCh38:
- Chr15:42983940
| UBR1 | C1369* | Johanson-Blizzard syndrome | Pathogenic (Sep 30, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43276168
- GRCh38:
- Chr15:42983970
| UBR1 | M1359I | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43276193
- GRCh38:
- Chr15:42983995
| UBR1 | | Johanson-Blizzard syndrome | Pathogenic (Apr 29, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:43276195
- GRCh38:
- Chr15:42983997
| UBR1 | | not specified, not provided | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43277094
- GRCh38:
- Chr15:42984896
| UBR1 | | not provided | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43277133
- GRCh38:
- Chr15:42984935
| UBR1 | | not provided | Likely benign (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43277145-43277147
- GRCh38:
- Chr15:42984947-42984949
| UBR1 | | not provided | Conflicting interpretations of pathogenicity (Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:43277150
- GRCh38:
- Chr15:42984952
| UBR1 | | not provided | Likely benign (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43277150-43277151
- GRCh38:
- Chr15:42984952-42984953
| UBR1 | | not provided | Benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43277155
- GRCh38:
- Chr15:42984957
| UBR1 | | not provided | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43280857
- GRCh38:
- Chr15:42988659
| UBR1 | | not provided | Benign (May 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281007
- GRCh38:
- Chr15:42988809
| UBR1 | | not provided | Likely benign (Jun 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281019
- GRCh38:
- Chr15:42988821
| UBR1 | I1332T | not provided | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281039
- GRCh38:
- Chr15:42988841
| UBR1 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281067
- GRCh38:
- Chr15:42988869
| UBR1 | R1316Q | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:43281113
- GRCh38:
- Chr15:42988915
| UBR1 | I1301V | Inborn genetic diseases | Uncertain significance (Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281131
- GRCh38:
- Chr15:42988933
| UBR1 | I1295V | Inborn genetic diseases | Uncertain significance (Aug 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281141
- GRCh38:
- Chr15:42988943
| UBR1 | | not provided | Benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281179
- GRCh38:
- Chr15:42988981
| UBR1 | | not provided | Likely benign (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43281391
- GRCh38:
- Chr15:42989193
| UBR1 | | not provided | Benign (May 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43282223
- GRCh38:
- Chr15:42990025
| UBR1 | | Johanson-Blizzard syndrome | Uncertain significance (Apr 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43282227
- GRCh38:
- Chr15:42990029
| UBR1 | | Inborn genetic diseases | Likely pathogenic (Jan 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:43282228
- GRCh38:
- Chr15:42990030
| UBR1 | S1283L | not provided | Uncertain significance (Sep 1, 2023) | criteria provided, single submitter |