| - GRCh37:
- Chr17:29552157
- GRCh38:
- Chr17:31225139
| NF1 | G631fs | Neurofibromatosis, type 1 | Likely pathogenic (Jul 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29541549
- GRCh38:
- Chr17:31214531
| NF1 | Y491* | Neurofibromatosis, type 1 | Pathogenic (Sep 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29490370-29490373
- GRCh38:
- Chr17:31163352-31163355
| NF1 | V153fs | Neurofibromatosis, type 1 | Pathogenic (Apr 26, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr17:29483090-29483091
- GRCh38:
- Chr17:31156072-31156073
| NF1 | S52fs | Neurofibromatosis, type 1 | Pathogenic (Jul 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29490341-29490342
- GRCh38:
- Chr17:31163323-31163324
| NF1 | S144fs | Neurofibromatosis, type 1 | Likely pathogenic (Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29653061-29653062
- GRCh38:
- Chr17:31326043-31326044
| NF1 | R1666fs, R1687fs | Neurofibromatosis, type 1 | Likely pathogenic (Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29652836
- GRCh38:
- Chr17:31325818
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29663858
- GRCh38:
- Chr17:31336840
| NF1 | R2098fs, R2119fs | Neurofibromatosis, type 1 | Pathogenic (Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29683983
- GRCh38:
- Chr17:31356965
| NF1 | Q2561*, Q2582* | Neurofibromatosis, type 1 | Likely pathogenic (Jul 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29654658
- GRCh38:
- Chr17:31327640
| NF1 | A1783fs, A1804fs | Neurofibromatosis, type 1 | Likely pathogenic (Jul 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29653048-29653049
- GRCh38:
- Chr17:31326030-31326031
| NF1 | N1662fs, N1683fs | Neurofibromatosis, type 1 | Pathogenic (Jul 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29587386
- GRCh38:
- Chr17:31260368
| NF1 | | Neurofibromatosis, type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:29541560-29541561
- GRCh38:
- Chr17:31214542-31214543
| NF1 | V497fs | Neurofibromatosis, type 1 | Pathogenic (Jul 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29496940
- GRCh38:
- Chr17:31169922
| NF1 | N171fs | Neurofibromatosis, type 1 | Pathogenic (Jul 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29541533
- GRCh38:
- Chr17:31214515
| NF1 | T486fs | Neurofibromatosis, type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:29541478
- GRCh38:
- Chr17:31214460
| NF1 | F468fs | Neurofibromatosis, type 1 | Pathogenic (Jun 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29670129
- GRCh38:
- Chr17:31343111
| NF1 | A2368S, A2389S | Neurofibromatosis, type 1 | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr17:29652910
- GRCh38:
- Chr17:31325892
| NF1 | K1616fs, K1637fs | Neurofibromatosis, type 1 | Likely pathogenic (Apr 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29490210
- GRCh38:
- Chr17:31163192
| NF1 | K99Q | Neurofibromatosis, type 1 | Uncertain significance (Apr 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29665115
- GRCh38:
- Chr17:31338097
| NF1 | S2239fs, S2260fs | Neurofibromatosis, type 1 | Pathogenic (May 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29554305-29554306
- GRCh38:
- Chr17:31227287-31227288
| NF1 | E775* | Neurofibromatosis, type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:29589904
- GRCh38:
- Chr6:29622127
| GABBR1 | A171P, A231P, A286P, A348P | Neurofibromatosis, type 1 | Likely pathogenic (May 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29553550
- GRCh38:
- Chr17:31226532
| NF1 | T700fs | Neurofibromatosis, type 1 | Likely pathogenic (Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29553517
- GRCh38:
- Chr17:31226499
| NF1 | V689fs | Neurofibromatosis, type 1 | Likely pathogenic (Mar 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29528509
- GRCh38:
- Chr17:31201491
| NF1 | | Neurofibromatosis, type 1 | Uncertain significance (Jul 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29528141-29528142
- GRCh38:
- Chr17:31201123-31201124
| NF1 | R385fs | Neurofibromatosis, type 1, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
| Pathogenic (Jun 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29585412-29585413
- GRCh38:
- Chr17:31258394-31258395
| NF1 | M1388fs, M1409fs | Neurofibromatosis, type 1 | Likely pathogenic (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29560198
- GRCh38:
- Chr17:31233180
| NF1 | A1226fs | Neurofibromatosis, type 1 | Likely pathogenic (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29552218-29552234
- GRCh38:
- Chr17:31225200-31225216
| NF1 | R652fs | Neurofibromatosis, type 1 | Pathogenic (Mar 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29653204-29653205
- GRCh38:
- Chr17:31326186-31326187
| NF1 | E1714fs, E1735fs | Neurofibromatosis, type 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:29508469
- GRCh38:
- Chr17:31181451
| NF1 | K206* | Neurofibromatosis, type 1 | Pathogenic | no assertion criteria provided |
| | NF1 | | Neurofibromatosis, type 1 | Pathogenic (Dec 10, 2022) | criteria provided, single submitter |
| | NF1 | | Neurofibromatosis, type 1 | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29677251
- GRCh38:
- Chr17:31350233
| NF1 | R2437*, R2458* | Neurofibromatosis, type 1 | Pathogenic (Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29475515-29542762
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422055-29701173
| OMG, EVI2A, NF1, EVI2B | | Neurofibromatosis, type 1 | Uncertain significance (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29527428-29592367
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29508420-29592377
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29585352-29592367
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29575982-29587553
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422055-29497035
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29548858-29549489
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Nov 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422055-29422407
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29654575-29667842
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29559879-29685283
| EVI2A, EVI2B, OMG, NF1 | | Neurofibromatosis, type 1 | Pathogenic (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29508426-29510472
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29652818-29664918
| NF1 | | Neurofibromatosis, type 1 | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29585352-29670163
| EVI2A, EVI2B, OMG, NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29585352-29588885
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29575982-29662069
| OMG, EVI2A, EVI2B, NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29556023-29563059
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29475515-29490414
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29541449-29557963
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422055-29552288
| NF1 | | Neurofibromatosis, type 1 | Uncertain significance (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422055-29533409
| NF1 | | Neurofibromatosis, type 1 | Uncertain significance (Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29540877-29542762
| NF1 | | Neurofibromatosis, type 1 | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29527420-29701173
| NF1, EVI2B, EVI2A, OMG | | Neurofibromatosis, type 1 | Pathogenic (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29676118-29687741
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29663341-29679442
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29663341-29665833
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29645324-29679452
| EVI2A, NF1 | | Neurofibromatosis, type 1 | Pathogenic (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29622027-29654877
| OMG, NF1, EVI2B, EVI2A | | Neurofibromatosis, type 1 | Pathogenic (Nov 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29592237-29701173
| NF1, OMG, EVI2A, EVI2B | | Neurofibromatosis, type 1 | Pathogenic (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29585352-29670163
| NF1, EVI2B, OMG, EVI2A | | Neurofibromatosis, type 1 | Pathogenic (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29575982-29665843
| EVI2A, EVI2B, OMG, NF1 | | Neurofibromatosis, type 1 | Pathogenic (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29562619-29701173
| EVI2B, OMG, EVI2A, NF1 | | Neurofibromatosis, type 1 | Pathogenic (Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29557258-29563059
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (May 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29556833-29701173
| EVI2A, EVI2B, OMG, NF1 | | Neurofibromatosis, type 1 | Pathogenic (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29482981-29486131
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29541449-29701173
| EVI2B, EVI2A, NF1, OMG | | Neurofibromatosis, type 1 | Pathogenic (Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422328-29677356
| NF1, EVI2A, EVI2B, OMG | | Neurofibromatosis, type 1 | Pathogenic (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422055-29662069
| EVI2B, OMG, EVI2A, NF1 | | Neurofibromatosis, type 1 | Pathogenic (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:27573882-29576157
| ABHD15, ADAP2, ANKRD13B, ATAD5, BLMH, CORO6, CPD, CRLF3, CRYBA1, EFCAB5, GIT1, GOSR1, NF1, NSRP1, NUFIP2, RNF135, SLC6A4, SSH2, TAOK1, TBC1D29P, TEFM, TMIGD1, TP53I13 | | Neurofibromatosis, type 1 | Pathogenic (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422055-29533409
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29527420-29527633
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29486008-29486131
| NF1 | | Neurofibromatosis, type 1 | Pathogenic (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29557258
- GRCh38:
- Chr17:31230240
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29664392
- GRCh38:
- Chr17:31337374
| NF1 | K2125fs, K2146fs | Neurofibromatosis, type 1 | Pathogenic (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29554565
- GRCh38:
- Chr17:31227547
| NF1 | W784G | Neurofibromatosis, type 1 | Likely pathogenic (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29541517
- GRCh38:
- Chr17:31214499
| NF1 | P481fs | Neurofibromatosis, type 1 | Pathogenic (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29667529
- GRCh38:
- Chr17:31340511
| NF1 | P2289A, P2310A | Neurofibromatosis, type 1 | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29685566
- GRCh38:
- Chr17:31358548
| NF1 | P2659L, P2680L | Neurofibromatosis, type 1 | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29560224
- GRCh38:
- Chr17:31233206
| NF1 | S1234F | Neurofibromatosis, type 1 | Uncertain significance (May 29, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr17:31155962-31163396
| LOC108281170, LOC108281180, NF1 | | Neurofibromatosis, type 1 | Pathogenic (Feb 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29546138-29546139
- GRCh38:
- Chr17:31219120-31219121
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Feb 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29661679
- GRCh38:
- Chr17:31334661
| NF1 | | Neurofibromatosis, type 1 | Likely pathogenic (Feb 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29563002
- GRCh38:
- Chr17:31235984
| NF1 | D1313H | Neurofibromatosis, type 1 | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29653026
- GRCh38:
- Chr17:31326008
| NF1 | S1654F, S1675F | Neurofibromatosis, type 1 | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29652946
- GRCh38:
- Chr17:31325928
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29509535
- GRCh38:
- Chr17:31182517
| NF1 | E247V | Neurofibromatosis, type 1 | Uncertain significance (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29677354
- GRCh38:
- Chr17:31350336
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29559699
- GRCh38:
- Chr17:31232681
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29556386
- GRCh38:
- Chr17:31229368
| NF1 | K918R | Neurofibromatosis, type 1 | Uncertain significance (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29588720
- GRCh38:
- Chr17:31261702
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29588895
- GRCh38:
- Chr17:31261877
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29663787
- GRCh38:
- Chr17:31336769
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29533387
- GRCh38:
- Chr17:31206369
| NF1 | P464S | Neurofibromatosis, type 1 | Uncertain significance (Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29670173
- GRCh38:
- Chr17:31343155
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29587371-29587372
- GRCh38:
- Chr17:31260353-31260354
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29556957
- GRCh38:
- Chr17:31229939
| NF1 | | Neurofibromatosis, type 1 | Likely benign (Apr 26, 2022) | criteria provided, single submitter |