| - GRCh37:
- Chr18:42531008
- GRCh38:
- Chr18:44951043
| SETBP1 | S568I | Lymphoma | Likely pathogenic
(Jul 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:49426577-49426591
- GRCh38:
- Chr12:49032794-49032808
| KMT2D | | Lymphoma | Likely pathogenic
(Jul 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:49427965-49427966
- GRCh38:
- Chr12:49034182-49034183
| KMT2D | L3542fs | Kabuki syndrome 1 | Pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:1962801
- GRCh38:
- Chr4:1961074
| NSD2 | E1099K | Talipes equinovarus, Hepatomegaly, Thrombocytopenia,
Furrowed tongue, Hypoglycemia, Enlarged kidney,
Ventricular septal defect, Intracranial hemorrhage, Retrognathia,
Macroglossia, Persistent patent ductus venosusAnemia,
Hypertrophic cardiomyopathy, Neurodevelopmental delay, ...see more | Conflicting interpretations of pathogenicity
(Jul 8, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:209106784
- GRCh38:
- Chr2:208242060
| IDH1 | E262K | Lymphoma | Uncertain significance
(Jul 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:148506467
- GRCh38:
- Chr7:148809375
| EZH2 | A682G, A638G, A626G, A668G, A677G | Lymphoma | Likely pathogenic
(Dec 26, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr7:148508727
- GRCh38:
- Chr7:148811635
| EZH2 | Y646S, Y632S, Y641S, Y590S, Y602S | Lymphoma, Malignant melanoma of skin, Non-Hodgkin lymphoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr7:148508728
- GRCh38:
- Chr7:148811636
| EZH2 | Y646N, Y590N, Y632N, Y641N, Y602N | Lymphoma, Non-Hodgkin lymphoma, Malignant melanoma of skin
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:90995027-90995028
- GRCh38:
- Chr8:89982799-89982800
| NBN | A32fs | Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic/Likely pathogenic
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6037019-6037024
- GRCh38:
- Chr7:5997388-5997393
| PMS2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:148508728
- GRCh38:
- Chr7:148811636
| EZH2 | Y646H, Y590H, Y602H, Y632H, Y641H | Malignant melanoma of skin, Lymphoma, Non-Hodgkin lymphoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr7:148508727
- GRCh38:
- Chr7:148811635
| EZH2 | Y646F, Y590F, Y602F, Y632F, Y641F | Malignant melanoma of skin, Lymphoma, Non-Hodgkin lymphoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:38182641
- GRCh38:
- Chr3:38141150
| MYD88 | L252P, L260P, L207P | Pyogenic bacterial infections due to MyD88 deficiency | Uncertain significance
(Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:112888172
- GRCh38:
- Chr12:112450368
| PTPN11 | Y63C, Y62C | Noonan syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7577538
- GRCh38:
- Chr17:7674220
| TP53 | R248Q, R116Q, R209Q, R89Q | Li-Fraumeni syndrome | Pathogenic
(Aug 28, 2019) | reviewed by expert panel
FDA Recognized Database |