| - GRCh37:
- Chr3:52441415
- GRCh38:
- Chr3:52407399
| BAP1 | R146T | Astrocytoma | Likely pathogenic
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:37244691
- GRCh38:
- Chr5:37244589
| CPLANE1 | Y119C | Cleft lip, Cleft palate, Astrocytoma,
not provided | Uncertain significance
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135800978
- GRCh38:
- Chr9:132925591
| TSC1 | L120P | Astrocytoma, Angiofibromas, Renal angiomyolipoma
| Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh38:
- Chr14:38411139-38421941
| | | Astrocytoma | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:49418638
- GRCh38:
- Chr12:49024855
| KMT2D | E5292D | Astrocytoma | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr4:66361129
- GRCh38:
- Chr4:65495411
| EPHA5 | D348G, D279G | Astrocytoma | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:157099814
- GRCh38:
- Chr6:156778680
| ARID1B | C251G, C334G | Astrocytoma | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:27022939-27022940
- GRCh38:
- Chr1:26696448-26696449
| ARID1A | | Inborn genetic diseases, not provided, Astrocytoma,
not specified | Conflicting interpretations of pathogenicity
(Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:226252135
- GRCh38:
- Chr1:226064434
| H3-3A | K28M | Astrocytoma, Brainstem glioma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:38275397
- GRCh38:
- Chr8:38417879
| FGFR1 | M515V, M426V, M505V, M511V, M424V, M513V, M546V, M422V | Gastric adenocarcinoma, Astrocytoma, Neuroblastoma,
Brainstem glioma, Medulloblastoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:38274851
- GRCh38:
- Chr8:38417333
| FGFR1 | N546D, N544D, N455D, N453D, N457D, N536D, N577D, N542D | Astrocytoma, Neuroblastoma, Gastric adenocarcinoma,
Brainstem glioma, Medulloblastoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:38272306
- GRCh38:
- Chr8:38414788
| FGFR1 | K656N, K567N, K646N, K654N, K565N, K687N, K563N, K652N | Lymphoblastic leukemia, acute, with lymphomatous features, Glioblastoma, Astrocytoma,
Hepatocellular carcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:209113113
- GRCh38:
- Chr2:208248389
| IDH1 | R132S | Adenoid cystic carcinoma, Prostate adenocarcinoma, Neoplasm of the large intestine,
Astrocytoma, Glioblastoma, Breast neoplasm,
Neoplasm of brain, Myelodysplastic syndrome, Multiple myeloma,
Malignant melanoma of skin, Acute myeloid leukemiaHepatocellular carcinoma,
Lung adenocarcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder,
Brainstem glioma, ...see more | Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:209113113
- GRCh38:
- Chr2:208248389
| IDH1 | R132C | Enchondromatosis, Maffucci syndrome, not provided,
Enchondromatosis, Acute myeloid leukemia, Glioma susceptibility 1
| Pathogenic/Likely pathogenic
(Aug 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:38272308
- GRCh38:
- Chr8:38414790
| FGFR1 | K656E, K652E, K687E, K646E, K563E, K565E, K567E, K654E | Medulloblastoma, Lymphoblastic leukemia, acute, with lymphomatous features, Encephalocraniocutaneous lipomatosis,
Astrocytoma, Pilomyxoid astrocytoma, Glioblastoma,
Hepatocellular carcinoma, Transitional cell carcinoma of the bladder | Conflicting interpretations of pathogenicity
(Jan 14, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr8:38274849
- GRCh38:
- Chr8:38417331
| FGFR1 | N546K, N536K, N542K, N544K, N453K, N457K, N577K, N455K | Rosette-forming glioneuronal tumor, Encephalocraniocutaneous lipomatosis | Pathogenic | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:209113112
- GRCh38:
- Chr2:208248388
| IDH1 | R132H | Metaphyseal chondromatosis, Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, Enchondromatosis,
not provided | Pathogenic/Likely pathogenic
(Aug 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577090
- GRCh38:
- Chr17:7673772
| TP53 | R151H, R244H, R283H, R124H | TP53-related condition, Hereditary cancer-predisposing syndrome, Astrocytoma,
not specified, not provided, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Jul 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091857
- GRCh38:
- Chr22:28695869
| CHEK2 | T146fs, T338fs, T410fs, T300fs, T367fs | Predisposition to cancer, CHEK2-Related Cancer Susceptibility, CHEK2-related condition,
Familial cancer of breast, Malignant tumor of prostate, Colorectal cancer,
Breast and/or ovarian cancer, Familial cancer of breast, Li-Fraumeni syndrome 2,
Malignant tumor of prostate, Bone osteosarcomaAstrocytoma,
Colorectal cancer, Breast neoplasm, Hereditary cancer-predisposing syndrome,
not provided, Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome, Breast and colorectal cancer, susceptibility to, Li-Fraumeni syndrome 2,
Familial cancer of breast, Thrombocytopenia, Inflammation of the large intestine,
Colitis, Hematochezia, ...see more | Conflicting interpretations of pathogenicity
(Oct 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:112888211
- GRCh38:
- Chr12:112450407
| PTPN11 | E76A, E75A | not provided | Pathogenic
(Sep 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:112888211
- GRCh38:
- Chr12:112450407
| PTPN11 | E76G, E75G | RASopathy, not provided, Juvenile myelomonocytic leukemia
| Conflicting interpretations of pathogenicity
(May 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:112888210
- GRCh38:
- Chr12:112450406
| PTPN11 | E76K, E75K | Juvenile myelomonocytic leukemia, PTPN11 Related Disorders, not provided,
RASopathy | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |