| - GRCh37:
- Chr8:100830629-100833766
| VPS13B | | Cohen syndrome | Pathogenic
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100836130-100836136
- GRCh38:
- Chr8:99823902-99823908
| VPS13B | N3088fs, N3113fs | Cohen syndrome | Likely pathogenic
(Sep 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100182316
- GRCh38:
- Chr8:99170088
| VPS13B | Y753C | Cohen syndrome | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100735518
- GRCh38:
- Chr8:99723290
| VPS13B | | Cohen syndrome | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100871678-100871696
- GRCh38:
- Chr8:99859450-99859468
| VPS13B | T3673fs, T3698fs | Cohen syndrome | Likely pathogenic
(Mar 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100887857
- GRCh38:
- Chr8:99875629
| VPS13B | M3986K, M4011K | Cohen syndrome | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100513982
- GRCh38:
- Chr8:99501754
| VPS13B | S1313N | Cohen syndrome | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100881464
- GRCh38:
- Chr8:99869236
| VPS13B | | Cohen syndrome | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100564884
- GRCh38:
- Chr8:99552656
| VPS13B | | Cohen syndrome | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100160116
- GRCh38:
- Chr8:99147888
| VPS13B | L631I | Cohen syndrome | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100443860
- GRCh38:
- Chr8:99431632
| VPS13B | V1060I | Cohen syndrome | Uncertain significance
(Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100160241
- GRCh38:
- Chr8:99148013
| VPS13B | | Cohen syndrome | Uncertain significance
(May 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100205282
- GRCh38:
- Chr8:99193054
| VPS13B | I838V | Cohen syndrome | Uncertain significance
(Mar 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100587884
- GRCh38:
- Chr8:99575656
| VPS13B | | Cohen syndrome | Likely pathogenic
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100155394-100403784
| VPS13B | | Cohen syndrome | Likely pathogenic
(Jan 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100050732
- GRCh38:
- Chr8:99038504
| VPS13B | E77K | Cohen syndrome | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100587960
- GRCh38:
- Chr8:99575732
| VPS13B | A1675V, A1700V | Cohen syndrome | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100108530-100155403
| VPS13B | | Cohen syndrome | Pathogenic
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100654029-100673729
| VPS13B | | Cohen syndrome | Pathogenic
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100396416-100443912
| VPS13B | | Cohen syndrome | Pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100821583-100821778
| VPS13B | | Cohen syndrome | Likely pathogenic
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100157931-100160219
| VPS13B | | Cohen syndrome | Likely pathogenic
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100108520-100205305
| VPS13B | | Cohen syndrome | Likely pathogenic
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100568668-100673729
| VPS13B | | Cohen syndrome | Likely pathogenic
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100050631-100396565
| VPS13B | | Cohen syndrome | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100026017-100287502
| VPS13B | | Cohen syndrome | Uncertain significance
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100205094-100287492
| VPS13B | | Cohen syndrome | Likely pathogenic
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100654029-100654736
| VPS13B | | Cohen syndrome | Likely pathogenic
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100146850-100533248
| VPS13B | | Cohen syndrome | Pathogenic
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100123306-100403952
| VPS13B | | Cohen syndrome | Pathogenic
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100860984-100866504
| VPS13B | | Cohen syndrome | Pathogenic
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100830669-100833720
| VPS13B | | Cohen syndrome | Pathogenic
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100108530-100128112
| VPS13B | | Cohen syndrome | Pathogenic
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100108530-100494040
| VPS13B | | Cohen syndrome | Pathogenic
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100711733-100796724
| VPS13B | | Cohen syndrome | Pathogenic
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100533107-100733295
| VPS13B | | Cohen syndrome | Pathogenic
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100533107-100588032
| VPS13B | | Cohen syndrome | Pathogenic
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100050631-100115368
| VPS13B | | Cohen syndrome | Pathogenic
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100493807-100729621
| VPS13B | | Cohen syndrome | Pathogenic
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100479622-100589881
| VPS13B | | Cohen syndrome | Pathogenic
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100454619-100673729
| VPS13B | | Cohen syndrome | Pathogenic
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100443745-100454883
| VPS13B | | Cohen syndrome | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100396426-100589871
| VPS13B | | Cohen syndrome | Pathogenic
(Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100396426-100454873
| VPS13B | | Cohen syndrome | Pathogenic
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100286416-100821768
| VPS13B | | Cohen syndrome | Pathogenic
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100286416-100673729
| VPS13B | | Cohen syndrome | Pathogenic
(Dec 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100286406-100523760
| VPS13B | | Cohen syndrome | Pathogenic
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100286406-100520159
| VPS13B | | Cohen syndrome | Pathogenic
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100286406-100494050
| VPS13B | | Cohen syndrome | Pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100205094-100733285
| VPS13B | | Cohen syndrome | Pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100160049-100168991
| VPS13B | | Cohen syndrome | Pathogenic
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100155192-100287492
| VPS13B | | Cohen syndrome | Pathogenic
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100025484-100026173
| VPS13B | | Cohen syndrome | Pathogenic
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100883666-100883935
| VPS13B | | Cohen syndrome | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100711743-100712170
| VPS13B | | Cohen syndrome | Likely pathogenic
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100513905-100514096
| VPS13B | | Cohen syndrome | Pathogenic
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100396416-100396565
| VPS13B | | Cohen syndrome | Pathogenic
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100168757-100168991
| VPS13B | | Cohen syndrome | Uncertain significance
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100160049-100160258
| VPS13B | | Cohen syndrome | Pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100108580
- GRCh38:
- Chr8:99096352
| VPS13B | S111I | Cohen syndrome | Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100836218
- GRCh38:
- Chr8:99823990
| VPS13B | | Cohen syndrome | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100883718
- GRCh38:
- Chr8:99871490
| VPS13B | | Cohen syndrome | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100493933
- GRCh38:
- Chr8:99481705
| VPS13B | G1258E | Cohen syndrome | Uncertain significance
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100880566
- GRCh38:
- Chr8:99868338
| VPS13B | | Cohen syndrome | Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100836137
- GRCh38:
- Chr8:99823909
| VPS13B | | Cohen syndrome | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100871647
- GRCh38:
- Chr8:99859419
| VPS13B | | Cohen syndrome | Likely benign
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100871590
- GRCh38:
- Chr8:99859362
| VPS13B | | Cohen syndrome | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100523739
- GRCh38:
- Chr8:99511511
| VPS13B | E1544D, E1569D | Cohen syndrome | Uncertain significance
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100523615
- GRCh38:
- Chr8:99511387
| VPS13B | K1503R, K1528R | Cohen syndrome | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100588000
- GRCh38:
- Chr8:99575772
| VPS13B | N1688K, N1713K | Cohen syndrome | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100866382
- GRCh38:
- Chr8:99854154
| VPS13B | L3589V, L3614V | Cohen syndrome | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100865825
- GRCh38:
- Chr8:99853597
| VPS13B | G3403D, G3428D | Cohen syndrome | Uncertain significance
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100866230
- GRCh38:
- Chr8:99854002
| VPS13B | G3538E, G3563E | Cohen syndrome | Uncertain significance
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100160242
- GRCh38:
- Chr8:99148014
| VPS13B | | Cohen syndrome | Uncertain significance
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100887687
- GRCh38:
- Chr8:99875459
| VPS13B | N3929K, N3954K | Cohen syndrome | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100133396
- GRCh38:
- Chr8:99121168
| VPS13B | | Cohen syndrome | Likely benign
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100865864
- GRCh38:
- Chr8:99853636
| VPS13B | E3416G, E3441G | Cohen syndrome | Uncertain significance
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100454876-100454877
- GRCh38:
- Chr8:99442648-99442649
| VPS13B | | Cohen syndrome | Benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100821656
- GRCh38:
- Chr8:99809428
| VPS13B | F2665L, F2690L | Cohen syndrome | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100205277
- GRCh38:
- Chr8:99193049
| VPS13B | L836fs | Cohen syndrome | Pathogenic
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100861132
- GRCh38:
- Chr8:99848904
| VPS13B | | Cohen syndrome | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100796615
- GRCh38:
- Chr8:99784387
| VPS13B | R2643W, R2618W | Cohen syndrome | Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100654204
- GRCh38:
- Chr8:99641976
| VPS13B | R1796C, R1821C | Cohen syndrome | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100887690
- GRCh38:
- Chr8:99875462
| VPS13B | R3955S, R3930S | Cohen syndrome | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100205205
- GRCh38:
- Chr8:99192977
| VPS13B | Y812C | Cohen syndrome | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100832152
- GRCh38:
- Chr8:99819924
| VPS13B | N2932K, N2957K | Cohen syndrome | Uncertain significance
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100479795
- GRCh38:
- Chr8:99467567
| VPS13B | R1200Q | Cohen syndrome | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100733293
- GRCh38:
- Chr8:99721065
| VPS13B | | Cohen syndrome | Likely benign
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100520083
- GRCh38:
- Chr8:99507855
| VPS13B | V1415L | Cohen syndrome | Uncertain significance
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100493811
- GRCh38:
- Chr8:99481583
| VPS13B | | Cohen syndrome | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100847851
- GRCh38:
- Chr8:99835623
| VPS13B | Y3276C, Y3301C | Cohen syndrome, Inborn genetic diseases | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:100147283
- GRCh38:
- Chr8:99135055
| VPS13B | G448E | Cohen syndrome, Inborn genetic diseases | Uncertain significance
(Dec 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:100861091
- GRCh38:
- Chr8:99848863
| VPS13B | K3344E, K3369E | Cohen syndrome | Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100403943
- GRCh38:
- Chr8:99391715
| VPS13B | | Cohen syndrome | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100587893
- GRCh38:
- Chr8:99575665
| VPS13B | R1678W, R1653W | Cohen syndrome | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100832360-100832361
- GRCh38:
- Chr8:99820132-99820133
| VPS13B | | Cohen syndrome | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100133542
- GRCh38:
- Chr8:99121314
| VPS13B | Y359H | Cohen syndrome | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100866357
- GRCh38:
- Chr8:99854129
| VPS13B | | Cohen syndrome | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100830698
- GRCh38:
- Chr8:99818470
| VPS13B | S2794Y, S2819Y | Cohen syndrome | Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:100123309
- GRCh38:
- Chr8:99111081
| VPS13B | | Cohen syndrome | Benign
(Mar 14, 2022) | criteria provided, single submitter |