| - GRCh37:
- Chr12:25378609-25378610
- GRCh38:
- Chr12:25225675-25225676
| KRAS | A130I | RASopathy, Carcinoma of pancreas, Malignant tumor of urinary bladder,
Acute myeloid leukemia, Noonan syndrome 3, Cardiofaciocutaneous syndrome 2,
Autoimmune lymphoproliferative syndrome type 4, Stomach cancer, Lung cancer,
Toriello-Lacassie-Droste syndrome, Linear nevus sebaceous syndromeCerebral arteriovenous malformation,
Familial cancer of breast, ...see more | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25362760-25362762
- GRCh38:
- Chr12:25209826-25209828
| KRAS | K180del | Toriello-Lacassie-Droste syndrome | Uncertain significance
(Jun 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:25380351
- GRCh38:
- Chr12:25227417
| KRAS | | RASopathy, Autoimmune lymphoproliferative syndrome type 4, Noonan syndrome 3,
Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Linear nevus sebaceous syndrome,
Cerebral arteriovenous malformation, Malignant tumor of urinary bladder, Autoimmune lymphoproliferative syndrome type 4,
Lung cancer, Noonan syndrome 3Stomach cancer,
Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2, Familial cancer of breast,
Carcinoma of pancreas, Linear nevus sebaceous syndrome, Toriello-Lacassie-Droste syndrome,
...see more | Conflicting interpretations of pathogenicity
(May 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:25362744-25362749
- GRCh38:
- Chr12:25209810-25209815
| KRAS | | RASopathy, Noonan syndrome, Stomach cancer,
Linear nevus sebaceous syndrome, Toriello-Lacassie-Droste syndrome, Cerebral arteriovenous malformation,
Malignant tumor of urinary bladder, Noonan syndrome 3, Lung cancer,
Autoimmune lymphoproliferative syndrome type 4, Carcinoma of pancreasAcute myeloid leukemia,
Cardiofaciocutaneous syndrome 2, Familial cancer of breast, ...see more | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25368366
- GRCh38:
- Chr12:25215432
| KRAS | | not provided, Carcinoma of pancreas, Lung cancer,
Linear nevus sebaceous syndrome, Acute myeloid leukemia, Stomach cancer,
Noonan syndrome 3, Toriello-Lacassie-Droste syndrome, Cerebral arteriovenous malformation,
Malignant tumor of urinary bladder, Familial cancer of breastAutoimmune lymphoproliferative syndrome type 4,
Cardiofaciocutaneous syndrome 2, ...see more | Benign/Likely benign
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25362863
- GRCh38:
- Chr12:25209929
| KRAS | | not provided, RASopathy, Lung cancer,
Linear nevus sebaceous syndrome, Cerebral arteriovenous malformation, Toriello-Lacassie-Droste syndrome,
Malignant tumor of urinary bladder, Autoimmune lymphoproliferative syndrome type 4, Acute myeloid leukemia,
Familial cancer of breast, Noonan syndrome 3Stomach cancer,
Carcinoma of pancreas, Cardiofaciocutaneous syndrome 2, ...see more | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3573261
- GRCh38:
- Chr16:3523261
| CLUAP1 | L273F, L107F | Leber congenital amaurosis | Pathogenic
(Apr 29, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:56552341
- GRCh38:
- Chr19:56040975
| NLRP5 | L947P | not provided | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:56544053
- GRCh38:
- Chr19:56032687
| NLRP5 | Q785* | Toriello-Lacassie-Droste syndrome | Uncertain significance
(Apr 17, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr12:25378609
- GRCh38:
- Chr12:25225675
| KRAS | A130V | not provided, not specified, RASopathy,
Noonan syndrome, Autoimmune lymphoproliferative syndrome type 4, Lung cancer,
Noonan syndrome 3, Linear nevus sebaceous syndrome, Acute myeloid leukemia,
Cardiofaciocutaneous syndrome 2, Familial cancer of breastStomach cancer,
Cerebral arteriovenous malformation, Malignant tumor of urinary bladder, Toriello-Lacassie-Droste syndrome,
Carcinoma of pancreas, ...see more | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25368497
- GRCh38:
- Chr12:25215563
| KRAS | | not specified, Autoimmune lymphoproliferative syndrome type 4, Lung cancer,
Noonan syndrome 3, Linear nevus sebaceous syndrome, Acute myeloid leukemia,
Cardiofaciocutaneous syndrome 2, Familial cancer of breast, Stomach cancer,
Cerebral arteriovenous malformation, Malignant tumor of urinary bladderToriello-Lacassie-Droste syndrome,
Carcinoma of pancreas, ...see more | Likely benign
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25380355
- GRCh38:
- Chr12:25227421
| KRAS | | RASopathy, Autoimmune lymphoproliferative syndrome type 4, Lung cancer,
Noonan syndrome 3, Linear nevus sebaceous syndrome, Acute myeloid leukemia,
Cardiofaciocutaneous syndrome 2, Familial cancer of breast, Stomach cancer,
Cerebral arteriovenous malformation, Malignant tumor of urinary bladderToriello-Lacassie-Droste syndrome,
Carcinoma of pancreas, ...see more | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:25398229
- GRCh38:
- Chr12:25245295
| KRAS | | RASopathy | Likely benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr12:25398295
- GRCh38:
- Chr12:25245361
| KRAS | | RASopathy | Likely benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr12:25398254
- GRCh38:
- Chr12:25245320
| KRAS | Q22R | Noonan syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |