| - GRCh37:
- Chr17:29654751
- GRCh38:
- Chr17:31327733
| NF1 | Q1814K, Q1835K | Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29667674-29667675
- GRCh38:
- Chr17:31340656-31340657
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
| Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29654499
- GRCh38:
- Chr17:31327481
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29592371
- GRCh38:
- Chr17:31265353
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
| Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29482982
- GRCh38:
- Chr17:31155964
| NF1 | | Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, type 1
| Likely benign
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29562918
- GRCh38:
- Chr17:31235900
| NF1 | | Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29528417
- GRCh38:
- Chr17:31201399
| NF1 | | Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29559913
- GRCh38:
- Chr17:31232895
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Likely benign
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29592370
- GRCh38:
- Chr17:31265352
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29684403
- GRCh38:
- Chr17:31357385
| NF1 | | Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
| Likely benign
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29560242
- GRCh38:
- Chr17:31233224
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
| Likely benign
(Jun 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29554218
- GRCh38:
- Chr17:31227200
| NF1 | | Neurofibromatosis-Noonan syndrome, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
| Likely benign
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29576152
- GRCh38:
- Chr17:31249134
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal
| Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29422398
- GRCh38:
- Chr17:31095380
| LOC111811965, MIR4733HG, NF1 | | Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29654498
- GRCh38:
- Chr17:31327480
| NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29509510
- GRCh38:
- Chr17:31182492
| NF1 | | Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Likely benign
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29652874
- GRCh38:
- Chr17:31325856
| NF1 | | Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Likely benign
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29661844
- GRCh38:
- Chr17:31334826
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Likely benign
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29679451
- GRCh38:
- Chr17:31352433
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29508420
- GRCh38:
- Chr17:31181402
| NF1 | | Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29665798
- GRCh38:
- Chr17:31338780
| NF1 | K2279fs, K2300fs | Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1 | Pathogenic
(Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29548953
- GRCh38:
- Chr17:31221935
| NF1 | M576T | Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29670077
- GRCh38:
- Chr17:31343059
| NF1 | | Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29528197
- GRCh38:
- Chr17:31201179
| NF1 | | Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29587393
- GRCh38:
- Chr17:31260375
| NF1 | F1458L, F1479L | Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1
| Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29654838
- GRCh38:
- Chr17:31327820
| NF1 | S1843C, S1864C | Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29670042
- GRCh38:
- Chr17:31343024
| NF1 | F2339L, F2360L | Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
| Uncertain significance
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29662066
- GRCh38:
- Chr17:31335048
| NF1 | | Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
| Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29663338-29663340
- GRCh38:
- Chr17:31336320-31336322
| NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, type 1
| Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29592280
- GRCh38:
- Chr17:31265262
| NF1 | | Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
| Pathogenic/Likely pathogenic
(Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29701156
- GRCh38:
- Chr17:31374138
| NF1 | I2814V, I2835V | Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1
| Uncertain significance
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29652981-29652982
- GRCh38:
- Chr17:31325963-31325964
| NF1 | K1661*, K1640* | not provided, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
Neurofibromatosis, type 1 | Pathogenic/Likely pathogenic
(Dec 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29683591
- GRCh38:
- Chr17:31356573
| NF1 | Y2577H, Y2556H | Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis, type 1
| Uncertain significance
(Dec 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29653080
- GRCh38:
- Chr17:31326062
| NF1 | H1672R, H1693R | Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, not provided
| Uncertain significance
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29585340
- GRCh38:
- Chr17:31258322
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome
| Uncertain significance
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29665822
- GRCh38:
- Chr17:31338804
| NF1 | K2286R, K2307R | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
not provided | Uncertain significance
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29552144
- GRCh38:
- Chr17:31225126
| NF1 | Y628fs | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1 | Pathogenic
(Sep 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29665168
- GRCh38:
- Chr17:31338150
| NF1 | | Hereditary cancer-predisposing syndrome, not provided, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome,
Cardiovascular phenotype | Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29527429-29527434
- GRCh38:
- Chr17:31200411-31200416
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, not provided
| Uncertain significance
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29685481-29685482
- GRCh38:
- Chr17:31358463-31358464
| NF1 | | Neurofibromatosis, type 1, not provided, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1,
Juvenile myelomonocytic leukemia | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29552274-29552276
- GRCh38:
- Chr17:31225256-31225258
| NF1 | | Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
| Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29663464
- GRCh38:
- Chr17:31336446
| NF1 | | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1 | Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29556327
- GRCh38:
- Chr17:31229309
| NF1 | | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Juvenile myelomonocytic leukemia,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1, Neurofibromatosis, type 1 | Likely benign
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29556219
- GRCh38:
- Chr17:31229201
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
| Likely benign
(Dec 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29560151
- GRCh38:
- Chr17:31233133
| NF1 | E1210* | Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Pathogenic
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29588791
- GRCh38:
- Chr17:31261773
| NF1 | G1526D, G1547D | Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1
| Uncertain significance
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29654554
- GRCh38:
- Chr17:31327536
| NF1 | R1748P, R1769P | Café-au-lait macules with pulmonary stenosis | Uncertain significance
(Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29586095
- GRCh38:
- Chr17:31259077
| NF1 | H1439D, H1460D | not provided, Café-au-lait macules with pulmonary stenosis | Uncertain significance
(Nov 30, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29587409
- GRCh38:
- Chr17:31260391
| NF1 | D1464Y, D1485Y | Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1
| Uncertain significance
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29554277
- GRCh38:
- Chr17:31227259
| NF1 | R765C | Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Hereditary cancer-predisposing syndrome,
Cardiovascular phenotype, Neurofibromatosis, type 1 | Uncertain significance
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29665160
- GRCh38:
- Chr17:31338142
| NF1 | | Hereditary cancer-predisposing syndrome, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis
| Likely pathogenic
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29685177
- GRCh38:
- Chr17:31358159
| NF1 | | Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
| Pathogenic/Likely pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29509685
- GRCh38:
- Chr17:31182667
| NF1 | | Neurofibromatosis, type 1, not provided | Pathogenic
(May 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29701367
- GRCh38:
- Chr17:31374349
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29701333
- GRCh38:
- Chr17:31374315
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29703950
- GRCh38:
- Chr17:31376932
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422077
- GRCh38:
- Chr17:31095059
| LOC111811965, MIR4733HG, NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Café-au-lait macules with pulmonary stenosis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422063
- GRCh38:
- Chr17:31095045
| LOC111811965, MIR4733HG, NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29702654
- GRCh38:
- Chr17:31375636
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29702323
- GRCh38:
- Chr17:31375305
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29701758
- GRCh38:
- Chr17:31374740
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29702652
- GRCh38:
- Chr17:31375634
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29702144
- GRCh38:
- Chr17:31375126
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29702060
- GRCh38:
- Chr17:31375042
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29701757
- GRCh38:
- Chr17:31374739
| NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Café-au-lait macules with pulmonary stenosis | Conflicting interpretations of pathogenicity
(Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29701755
- GRCh38:
- Chr17:31374737
| NF1 | | Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis, not provided,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29701299
- GRCh38:
- Chr17:31374281
| NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1, not provided | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29701297
- GRCh38:
- Chr17:31374279
| NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1,
Café-au-lait macules with pulmonary stenosis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29533395
- GRCh38:
- Chr17:31206377
| NF1 | | Hereditary cancer-predisposing syndrome, Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis | Conflicting interpretations of pathogenicity
(Aug 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29486093
- GRCh38:
- Chr17:31159075
| NF1 | | Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29704400
- GRCh38:
- Chr17:31377382
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29704362
- GRCh38:
- Chr17:31377344
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29422162
- GRCh38:
- Chr17:31095144
| LOC111811965, MIR4733HG, NF1 | | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29421965
- GRCh38:
- Chr17:31094947
| LOC111811965, MIR4733HG, NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29575990
- GRCh38:
- Chr17:31248972
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29704687
- GRCh38:
- Chr17:31377669
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29703713
- GRCh38:
- Chr17:31376695
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29703246
- GRCh38:
- Chr17:31376228
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29702381
- GRCh38:
- Chr17:31375363
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, familial spinal | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29701714
- GRCh38:
- Chr17:31374696
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29701274
- GRCh38:
- Chr17:31374256
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29683463
- GRCh38:
- Chr17:31356445
| NF1 | | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis-Noonan syndrome | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29704687
- GRCh38:
- Chr17:31377669
| NF1 | | not provided, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1 | Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29422277
- GRCh38:
- Chr17:31095259
| LOC111811965, MIR4733HG, NF1 | | Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal,
Neurofibromatosis, type 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29703420
- GRCh38:
- Chr17:31376402
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29703183
- GRCh38:
- Chr17:31376165
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29702360
- GRCh38:
- Chr17:31375342
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29701758
- GRCh38:
- Chr17:31374740
| NF1 | | not provided, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal, Neurofibromatosis, type 1 | Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29701558
- GRCh38:
- Chr17:31374540
| NF1 | | Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:29664824
- GRCh38:
- Chr17:31337806
| NF1 | | not provided, Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome,
Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29554639
- GRCh38:
- Chr17:31227621
| NF1 | | Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis,
Neurofibromatosis, familial spinal | Conflicting interpretations of pathogenicity
(Dec 30, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29687701
- GRCh38:
- Chr17:31360683
| NF1 | A2786V, A2765V | Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1,
not provided | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29684020
- GRCh38:
- Chr17:31357002
| NF1 | R2594L, R2573L | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:29679340
- GRCh38:
- Chr17:31352322
| NF1 | Y2508C, Y2487C | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1 | Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29665789
- GRCh38:
- Chr17:31338771
| NF1 | I2296T, I2275T | Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1,
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype | Uncertain significance
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29664588
- GRCh38:
- Chr17:31337570
| NF1 | L2210F, L2189F | Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome,
Cardiovascular phenotype | Uncertain significance
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29585427
- GRCh38:
- Chr17:31258409
| NF1 | F1392L, F1413L | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, type 1,
Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis,
Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1 | Uncertain significance
(Mar 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29576102
- GRCh38:
- Chr17:31249084
| NF1 | P1359T | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1 | Uncertain significance
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29576101
- GRCh38:
- Chr17:31249083
| NF1 | | Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, familial spinal,
Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Juvenile myelomonocytic leukemia,
Neurofibromatosis, type 1 | Likely benign
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:29701059
- GRCh38:
- Chr17:31374041
| NF1 | | Neurofibromatosis, familial spinal, Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome,
Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Cardiovascular phenotype,
Hereditary cancer-predisposing syndrome | Likely benign
(Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |