| PDB ID | 3DDC
|
CHAIN | A |
|---|---|---|---|
| Protein name | GTPase HRas | ||
| Uniprot Accession | P01112 | ||
| The number of similar proteins | 626 | ||
| The number of binding states | 31 | ||
| The number of binding partners | 25 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 3DDC (CHAIN: A) | |
| 1 |
Q5EBH1
|
| 2 | Monomeric state |
| 3 |
Q03386
|
| 4 |
Q8TDF6
|
| 5 |
Q07889
|
| 6 |
7L0F
|
| 7 |
Q9BPZ7
|
| 8 |
P28829
|
| 9 |
P20936
|
| 10 |
P04049
|
| 11 |
P01112
|
| 12 |
Q9QZQ1
|
| 13 |
P62937
|
| 14 |
Q4ACU6
|
| 15 |
P48736
|
| 16 |
Q14449
|
| 17 |
2C5L
|
| 18 |
5UFQ
|
| 19 |
P40337
|
| 20 |
7NY8
|
| 21 |
5MLB
|
| 22 |
8BE3
|
| 23 |
O43924
|
| 24 |
P01112
P01112
|
| 25 |
2UZI
2UZI
|
| 26 |
5WPL
5WPL
|
| 27 |
P04049
P02647
|
| 28 |
Q07889
8BE4
|
| 29 |
P01116-2
O15211
O15211
|
| 30 |
Q07889
8BE5
8BE5
|
| 31 |
P01116
P01116
P01116
P01116
|
Downdload
Molecule viewer
|
Only interaction residues |
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|
Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 5_LYS | ASN |
ClinVar chr12:25398304 rs104894361 |
Pathogenic | - | 0.9932 | Cardiofaciocutaneous syndrome 2|not provided|Inborn genetic diseases|Noonan syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648] | |
| 5_LYS | GLU |
ClinVar chr12:25398306 rs193929331 |
Pathogenic/Likely pathogenic | - | 0.9934 | Noonan syndrome 3|RASopathy|not provided|Noonan syndrome|Prostate cancer, hereditary, 1|KRAS-related condition [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331|] | |
| 5_LYS | ASN |
ClinVar chr12:25398304 rs104894361 |
Pathogenic | - | 0.9932 | not provided [MedGen:CN517202] | |
| 5_LYS | GLN |
ClinVar chr12:25398306 - |
Likely pathogenic | - | 0.9417 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 7_VAL | GLU |
ClinVar chr12:25398299 - |
Likely pathogenic | - | 0.998 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 12_GLY | VAL |
VAR_006836
rs104894230 |
US | - | 0.9954 | Bladder carcinoma | |
| 12_GLY | SER |
VAR_006837
rs104894229 |
LP/P | - | 0.9891 | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] | |
| 12_GLY | ALA |
VAR_026106
rs104894230 |
LP/P | - | 0.9653 | Costello syndrome (CSTLO) [MIM:218040] | |
| 12_GLY | CYS |
VAR_045975
rs104894229 |
LP/P | - | 0.9978 | Costello syndrome (CSTLO) [MIM:218040] | |
| 12_GLY | GLU |
VAR_045976
- |
LP/P | - | 0.9978 | Costello syndrome (CSTLO) [MIM:218040] | |
| 12_GLY | ASP |
VAR_068816
rs104894230 |
LP/P | - | 0.9981 | Costello syndrome (CSTLO) [MIM:218040] | |
| 12_GLY | CYS |
ClinVar chr12:25398285 rs121913530 |
Likely pathogenic | - | 0.9978 | Lung carcinoma|Non-small cell lung carcinoma|Endometrial carcinoma|Thyroid tumor|Neoplasm of ovary|Lung adenocarcinoma|Neoplasm of the large intestine|Gallbladder cancer|not provided|RASopathy [MONDO:MONDO:0005138,MedGen:C0684249|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005411,MedGen:C0153452|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 12_GLY | ARG |
ClinVar chr12:25398285 rs121913530 |
Pathogenic/Likely pathogenic | - | 0.9976 | Squamous cell lung carcinoma|Malignant tumor of urinary bladder|Non-small cell lung carcinoma|Thyroid tumor|Neoplasm of ovary|Neoplasm of the large intestine|Adenoid cystic carcinoma|not provided|RASopathy [Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 12_GLY | ASP |
ClinVar chr12:25398284 rs121913529 |
Pathogenic | - | 0.9981 | Carcinoma of pancreas|Epidermal nevus|Nevus sebaceous|Linear nevus sebaceous syndrome|Juvenile myelomonocytic leukemia|Autoimmune lymphoproliferative syndrome type 4|Non-small cell lung carcinoma|Neoplasm of ovary|not provided|Lung carcinoma|Neoplasm of the large intestine|Acute myeloid leukemia|Thyroid tumor|RASopathy|Cerebral arteriovenous malformation|Vascular Tumors Including Pyogenic Granuloma|Primary low grade serous adenocarcinoma of ovary|Capillary malformation-arteriovenous malformation 1|Encephalocraniocutaneous lipomatosis|Gastric cancer|Atypical endometrial hyperplasia [MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:1333,Orphanet:217074|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|MONDO:MONDO:0005138,MedGen:C0684249|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724||MedGen:C4302356|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0006096,MedGen:C0349579]; Endometrial hyperplasia without atypia [MONDO:MONDO:0006193,MedGen:C1516855] | |
| 12_GLY | VAL |
ClinVar chr12:25398284 rs121913529 |
Pathogenic | - | 0.9954 | Carcinoma of pancreas|Nevus sebaceous|Juvenile myelomonocytic leukemia|Non-small cell lung carcinoma|not provided|Thyroid tumor|Neoplasm of ovary|Acute myeloid leukemia|Neoplasm of the large intestine|Cerebral arteriovenous malformation|Chronic myelogenous leukemia, BCR-ABL1 positive|Linear nevus sebaceous syndrome|Lung sarcomatoid carcinoma|RASopathy [MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:1333,Orphanet:217074|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:C3661900|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MONDO:MONDO:0006279,MedGen:C1708781|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 12_GLY | SER |
ClinVar chr12:25398285 rs121913530 |
Pathogenic | - | 0.9891 | Gastric cancer|Non-small cell lung carcinoma|Neoplasm of ovary|Juvenile myelomonocytic leukemia|Thyroid tumor|Neoplasm of the large intestine|not provided|RASopathy [Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 12_GLY | VAL |
ClinVar chr11:534288 rs104894230 |
Pathogenic | - | 0.9954 | Malignant tumor of urinary bladder|Costello syndrome|Myopathy, congenital, with excess of muscle spindles|Epidermal nevus|not provided|Melanoma|Thyroid tumor|Inborn genetic diseases|HRAS-related condition [MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0800299,MedGen:C1968782|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MeSH:D030342,MedGen:C0950123|] | |
| 12_GLY | SER |
ClinVar chr11:534289 rs104894229 |
Pathogenic | - | 0.9891 | Costello syndrome|Myopathy, congenital, with excess of muscle spindles|Epidermal nevus with urothelial cancer, somatic|Nevus sebaceous|not provided|RASopathy|Nasopharyngeal neoplasm|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Lung adenocarcinoma|Pancreatic adenocarcinoma|Acute myeloid leukemia|Breast neoplasm|Thyroid tumor|Gastric adenocarcinoma|Neoplasm of uterine cervix|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma, sporadic|Squamous cell carcinoma of the skin|Myelodysplastic syndrome|Adenoid cystic carcinoma|Glioblastoma|Carcinoma of esophagus|Multiple myeloma|Hepatocellular carcinoma|Neoplasm of the large intestine|Wooly hair nevus|Rhabdomyosarcoma|Lip and oral cavity carcinoma|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|See cases|HRAS-related condition|Noonan syndrome 1|Epidermal nevus [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0800299,MedGen:C1968782|MedGen:C3277679|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0023644,MedGen:C0220641|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|||MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414] | |
| 12_GLY | ALA |
ClinVar chr11:534288 rs104894230 |
Pathogenic | - | 0.9653 | Costello syndrome|not provided|Adenoid cystic carcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Thyroid tumor|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Prostate adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|Breast neoplasm|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Glioblastoma|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Neoplasm of uterine cervix|Myelodysplastic syndrome|Nasopharyngeal neoplasm|Multiple myeloma|Lung adenocarcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Inborn genetic diseases|6 conditions|Rhabdomyosarcoma|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0006485,MedGen:C0280630|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MeSH:D030342,MedGen:C0950123|6 conditions|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733] | |
| 12_GLY | ASP |
ClinVar chr11:534288 rs104894230 |
Pathogenic/Likely pathogenic | - | 0.9981 | Costello syndrome, severe|Nevus sebaceous|Costello syndrome|RASopathy|not provided|Breast neoplasm|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome [MedGen:C4016398|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733] | |
| 12_GLY | CYS |
ClinVar chr11:534289 rs104894229 |
Pathogenic | - | 0.9978 | Costello syndrome|Nevus sebaceous|Epidermal nevus|RASopathy|not provided|Hepatocellular carcinoma|Squamous cell carcinoma of the skin|Breast neoplasm|Acute myeloid leukemia|Neoplasm of the large intestine|Papillary renal cell carcinoma, sporadic|Gastric adenocarcinoma|Lung adenocarcinoma|Thyroid tumor|Nasopharyngeal neoplasm|Ovarian serous cystadenocarcinoma|Myelodysplastic syndrome|Multiple myeloma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Glioblastoma|Neoplasm of uterine cervix|Urinary bladder carcinoma|Prostate adenocarcinoma|Adenoid cystic carcinoma|Pancreatic adenocarcinoma|6 conditions [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0002862,MONDO:MONDO:0004986,MedGen:C0699885|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|6 conditions] | |
| 12_GLY | ASP |
ClinVar chr1:115258747 rs121913237 |
Pathogenic/Likely pathogenic | - | 0.9981 | Epidermal nevus|not provided|Juvenile myelomonocytic leukemia|Multiple myeloma|Melanoma|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Myelodysplastic syndrome|Neoplasm of the large intestine|Gastric adenocarcinoma|Non-small cell lung carcinoma|Malignant melanoma of skin|Noonan syndrome 6|Noonan syndrome and Noonan-related syndrome|RASopathy|Autoimmune lymphoproliferative syndrome type 4|NRAS-related condition [Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MedGen:C3661900|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|] | |
| 12_GLY | CYS |
ClinVar chr1:115258748 rs121913250 |
Pathogenic | - | 0.9978 | not provided|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Multiple myeloma|Acute myeloid leukemia|Non-small cell lung carcinoma|Malignant melanoma of skin|Melanoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Chronic myelogenous leukemia, BCR-ABL1 positive [MedGen:C3661900|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521] | |
| 12_GLY | ARG |
ClinVar chr1:115258748 rs121913250 |
Pathogenic | - | 0.9976 | not provided|Gastric adenocarcinoma|Melanoma|Multiple myeloma|Acute myeloid leukemia|Chronic myelogenous leukemia, BCR-ABL1 positive|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Myelodysplastic syndrome|Non-small cell lung carcinoma|Malignant melanoma of skin|Increased nuchal translucency|Noonan syndrome 6 [MedGen:C3661900|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010880,MedGen:C4023676|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648] | |
| 12_GLY | VAL |
ClinVar chr1:115258747 rs121913237 |
Pathogenic/Likely pathogenic | - | 0.9954 | Noonan syndrome|not provided|Melanoma|Acute myeloid leukemia|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Multiple myeloma|Gastric adenocarcinoma|Myelodysplastic syndrome|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 12_GLY | ALA |
ClinVar chr12:25398284 rs121913529 |
Likely pathogenic | - | 0.9653 | Neoplasm of the large intestine|Neoplasm of ovary|Lung adenocarcinoma|Gastrointestinal stromal tumor|Multiple myeloma|not provided|Gallbladder cancer|KRAS-related condition|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C3661900|MONDO:MONDO:0005411,MedGen:C0153452||Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131] | |
| 12_GLY | SER |
ClinVar chr1:115258748 rs121913250 |
Pathogenic | - | 0.9891 | Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834]; Noonan syndrome|not provided|Melanoma|Malignant melanoma of skin|Multiple myeloma|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Gastric adenocarcinoma|Acute myeloid leukemia|Non-small cell lung carcinoma|Myelodysplastic syndrome|RASopathy|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733] | |
| 12_GLY | ALA |
ClinVar chr1:115258747 rs121913237 |
Pathogenic/Likely pathogenic | - | 0.9653 | Myelodysplastic syndrome progressed to acute myeloid leukemia|not provided|Acute myeloid leukemia|Non-small cell lung carcinoma|Multiple myeloma|Melanoma|Malignant melanoma of skin|Myelodysplastic syndrome|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|RASopathy|Noonan syndrome and Noonan-related syndrome [MedGen:CN234857|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733] | |
| 12_GLY | ARG |
ClinVar chr11:534289 rs104894229 |
Likely pathogenic | - | 0.9976 | Thyroid tumor|Neoplasm of the large intestine|Costello syndrome [Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071] | |
| 13_GLY | CYS |
VAR_026107
rs104894228 |
LP/P | - | 0.9925 | Costello syndrome (CSTLO) [MIM:218040] | |
| 13_GLY | ASP |
VAR_026108
rs104894226 |
LP/P | - | 0.9987 | Costello syndrome (CSTLO) [MIM:218040] | |
| 13_GLY | ARG |
VAR_068817
rs104894228 |
LP/P | - | 0.998 | Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] | |
| 13_GLY | ARG |
ClinVar chr12:25398282 rs121913535 |
Pathogenic | - | 0.998 | Pilocytic astrocytoma|Non-small cell lung carcinoma|Neoplasm of the large intestine|Thyroid tumor|not provided [Human Phenotype Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MedGen:CN517202] | |
| 13_GLY | ASP |
ClinVar chr11:534285 rs104894226 |
Pathogenic | - | 0.9987 | Costello syndrome|not provided|Neoplasm of the large intestine|RASopathy|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome|6 conditions|HRAS-related condition [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|6 conditions|] | |
| 13_GLY | CYS |
ClinVar chr11:534286 rs104894228 |
Pathogenic | - | 0.9925 | Costello syndrome|RASopathy|not provided|Lung adenocarcinoma|Multiple myeloma|Thyroid tumor|Breast neoplasm|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Squamous cell carcinoma of the skin|Acute myeloid leukemia|Neoplasm of the large intestine|Neoplasm of uterine cervix|Gastric adenocarcinoma|Neoplasm|Hepatocellular carcinoma|Noonan syndrome|6 conditions|Noonan syndrome and Noonan-related syndrome|HRAS-related condition [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|6 conditions|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|] | |
| 13_GLY | ARG |
ClinVar chr1:115258745 rs121434595 |
Likely pathogenic | - | 0.998 | Carcinoma of colon|Large congenital melanocytic nevus|Medulloblastoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Non-Hodgkin lymphoma|Melanoma|Acute myeloid leukemia|Multiple myeloma|Myelodysplastic syndrome|Neoplasm of the large intestine|Malignant melanoma of skin|Noonan syndrome 6 [MONDO:MONDO:0002032,MedGen:C0699790|Human Phenotype Ontology:HP:0005600,Human Phenotype Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648] | |
| 13_GLY | ASP |
ClinVar chr1:115258744 rs121434596 |
Pathogenic/Likely pathogenic | - | 0.9987 | Juvenile myelomonocytic leukemia|Noonan syndrome 6|Autoimmune lymphoproliferative syndrome type 4|not provided|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Medulloblastoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Melanoma|Multiple myeloma|Neoplasm of the large intestine|Acute myeloid leukemia|Non-Hodgkin lymphoma|Acute megakaryoblastic leukemia in down syndrome [Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MedGen:CN517202|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0020526,MedGen:CN207426,Orphanet:99887] | |
| 13_GLY | ARG |
ClinVar chr11:534286 rs104894228 |
Pathogenic/Likely pathogenic | - | 0.998 | Linear nevus sebaceous syndrome|Nevus sebaceous|NEVUS SPILUS, SOMATIC|Epidermal nevus|Squamous cell lung carcinoma|Hepatocellular carcinoma|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Neoplasm of uterine cervix|SPITZ NEVUS, SOMATIC|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Malignant melanoma of skin|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Multiple myeloma|Thyroid tumor|B-cell chronic lymphocytic leukemia|Neoplasm of the large intestine|Breast neoplasm|Acute myeloid leukemia|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Costello syndrome|Noonan syndrome and Noonan-related syndrome|Epidermolytic nevus|cutaneous-skeletal hypophosphatemia syndrome [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0010815,MedGen:C3854181||Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873||MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0044656,MedGen:C1302848,Orphanet:497737|] | |
| 13_GLY | CYS |
ClinVar chr1:115258745 rs121434595 |
Pathogenic | - | 0.9925 | Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202] | |
| 13_GLY | CYS |
ClinVar chr12:25398282 rs121913535 |
Pathogenic/Likely pathogenic | - | 0.9925 | Non-small cell lung carcinoma|Autoimmune lymphoproliferative syndrome type 4|Neoplasm of the large intestine|not provided|KRAS-related disorders [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:CN517202|] | |
| 13_GLY | VAL |
ClinVar chr12:25398281 rs112445441 |
Pathogenic | - | 0.9973 | Thyroid tumor|Neoplasm of the large intestine|not provided|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C3661900|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131] | |
| 13_GLY | GLY |
ClinVar chr12:25398280 rs397517040 |
Likely pathogenic | - | - | Non-small cell lung carcinoma|not provided|Prostate cancer, hereditary, 1 [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:CN517202|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331] | |
| 13_GLY | GLY |
ClinVar chr12:25398280 rs397517040 |
Likely pathogenic | - | - | Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131] | |
| 13_GLY | VAL |
ClinVar chr11:534285 rs104894226 |
Pathogenic | - | 0.9973 | not provided|Acute myeloid leukemia|Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Transitional cell carcinoma of the bladder|Neoplasm of uterine cervix|B-cell chronic lymphocytic leukemia|Hepatocellular carcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Thymoma|Breast neoplasm|Costello syndrome|Gastric adenocarcinoma|Malignant melanoma of skin|Malignant neoplasm of body of uterus|KA-like vemurafenib-induced squamous lesions|Lip and oral cavity carcinoma [MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100522,MONDO:MONDO:0006456,MeSH:D013945,MedGen:C0040100,Orphanet:99867|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574||MONDO:MONDO:0023644,MedGen:C0220641] | |
| 13_GLY | VAL |
ClinVar chr1:115258744 rs121434596 |
Pathogenic/Likely pathogenic | - | 0.9973 | Neoplasm|Melanoma|Multiple myeloma|Malignant melanoma of skin|Acute myeloid leukemia|Medulloblastoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Non-Hodgkin lymphoma|Myelodysplastic syndrome|Neoplasm of the large intestine [Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404] | |
| 13_GLY | ALA |
ClinVar chr1:115258744 rs121434596 |
Pathogenic | - | 0.9234 | Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202] | |
| 13_GLY | ALA |
ClinVar chr12:25398281 rs112445441 |
Pathogenic | - | 0.9234 | Neoplasm of the large intestine|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131] | |
| 13_GLY | SER |
ClinVar chr12:25398282 rs121913535 |
Pathogenic | - | 0.9793 | Neoplasm of the large intestine|Non-small cell lung carcinoma|Thyroid tumor [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087] | |
| 13_GLY | SER |
ClinVar chr1:115258745 rs121434595 |
Likely pathogenic | - | 0.9793 | Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356] | |
| 13_GLY | SER |
ClinVar chr11:534286 rs104894228 |
Likely pathogenic | - | 0.9793 | Malignant melanoma of skin|Neoplasm|Breast neoplasm|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Vascular Tumors Including Pyogenic Granuloma|Costello syndrome [Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782||MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071] | |
| 13_GLY | ALA |
ClinVar chr11:534285 rs104894226 |
Likely pathogenic | - | 0.9234 | Acute myeloid leukemia|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Neoplasm of uterine cervix|Lung adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MedGen:C0153574|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673] | |
| 14_VAL | ILE |
ClinVar chr12:25398279 rs104894365 |
Pathogenic | - | 0.9024 | Noonan syndrome 3|Endometrial carcinoma|RASopathy|not provided|Noonan syndrome|Noonan syndrome [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]; Cardio-facio-cutaneous syndrome|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733] | |
| 15_GLY | VAL |
ClinVar chr12:25398275 rs1555195579 |
Likely pathogenic | - | 0.9998 | not provided [MedGen:CN517202] | |
| 18_ALA | THR |
ClinVar chr1:115258730 rs121913248 |
Likely pathogenic | - | 0.9897 | Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202] | |
| 18_ALA | VAL |
ClinVar chr12:25398266 rs2135806030 |
Pathogenic | - | 0.9963 | Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 19_LEU | PHE |
ClinVar chr12:25398262 rs121913538 |
Pathogenic | - | 0.9895 | OCULOECTODERMAL SYNDROME, SOMATIC|Angiosarcoma|Encephalocraniocutaneous lipomatosis|RASopathy [|Human Phenotype Ontology:HP:0200058,MONDO:MONDO:0016982,MeSH:D006394,MedGen:C0018923,Orphanet:263413|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 19_LEU | PHE |
ClinVar chr12:25398262 rs121913538 |
Likely pathogenic | - | 0.9895 | Angiosarcoma|not provided [Human Phenotype Ontology:HP:0200058,MONDO:MONDO:0016982,MeSH:D006394,MedGen:C0018923,Orphanet:263413|MedGen:CN517202] | |
| 22_GLN | LYS |
VAR_045977
rs121917757 |
LP/P | - | 0.9911 | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] | |
| 22_GLN | LYS |
ClinVar chr11:534259 rs121917757 |
Likely pathogenic | - | 0.9911 | Myopathy, congenital, with excess of muscle spindles|Costello syndrome|not provided [MONDO:MONDO:0800299,MedGen:C1968782|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900] | |
| 22_GLN | GLU |
ClinVar chr12:25398255 rs121913236 |
Pathogenic | - | 0.9451 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 22_GLN | ARG |
ClinVar chr12:25398254 rs727503110 |
Pathogenic | - | 0.9456 | Noonan syndrome|not provided|RASopathy|not specified|Noonan syndrome 3 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:CN169374|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]; Cardiofaciocutaneous syndrome 2|Hereditary diffuse gastric adenocarcinoma|Noonan syndrome 3|12 conditions [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|12 conditions] | |
| 22_GLN | LEU |
ClinVar chr12:25398254 rs727503110 |
Pathogenic | - | 0.9848 | not provided [MedGen:CN517202] | |
| 22_GLN | LYS |
ClinVar chr12:25398255 rs121913236 |
Likely pathogenic | - | 0.9911 | Neoplasm of the large intestine|Linear nevus sebaceous syndrome [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612] | |
| 23_LEU | ARG |
ClinVar chr12:25398251 rs730880472 |
Likely pathogenic | - | 0.9887 | not provided [MedGen:CN517202] | |
| 24_ILE | ASN |
ClinVar chr1:115258711 rs869025573 |
Pathogenic | - | 0.9957 | Noonan syndrome 1|not provided [MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MedGen:C3661900] | |
| 25_GLN | GLU |
8.3kJPN chr12:25398246 - |
- | 0.0001 | 0.8717 | - | |
| 34_PRO | ARG |
ClinVar chr12:25398218 rs104894366 |
Pathogenic/Likely pathogenic | - | 0.9983 | Cardiofaciocutaneous syndrome 2|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|not provided|Acute myeloid leukemia [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]; Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]; Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340]; Autoimmune lymphoproliferative syndrome type 4|RASopathy [MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 34_PRO | LEU |
ClinVar chr1:115258681 rs397514553 |
Pathogenic | - | 0.9987 | Epidermal nevus|Noonan syndrome 1 [Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648] | |
| 34_PRO | LEU |
ClinVar chr12:25398218 rs104894366 |
Pathogenic | - | 0.9987 | Noonan syndrome|RASopathy|not provided|Noonan syndrome 3|Noonan syndrome 1 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648] | |
| 34_PRO | GLN |
ClinVar chr12:25398218 - |
Likely pathogenic | - | 0.9996 | KRAS-related condition [-] | |
| 36_ILE | MET |
ClinVar chr12:25398211 rs727503109 |
Pathogenic/Likely pathogenic | - | 0.9887 | RASopathy|not provided|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Cardiofaciocutaneous syndrome 1|Cardiovascular phenotype [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340|MedGen:CN230736] | |
| 36_ILE | MET |
ClinVar chr1:115258674 rs2101743991 |
Likely pathogenic | - | 0.9887 | Noonan syndrome 6 [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648] | |
| 50_THR | ILE |
ClinVar chr1:115256562 rs267606921 |
Pathogenic | - | 0.5676 | Noonan syndrome 6|Noonan syndrome|Noonan syndrome 1|RASopathy [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 50_THR | PRO |
ClinVar chr12:25380310 - |
Likely pathogenic | - | 0.4023 | not provided [MedGen:CN517202] | |
| 58_THR | ILE |
VAR_045978
rs121917758 |
LP/P | - | 0.9997 | Costello syndrome (CSTLO) [MIM:218040] | |
| 58_THR | ILE |
ClinVar chr12:25380285 rs104894364 |
Pathogenic | - | 0.9997 | Noonan syndrome 3|not provided|Noonan syndrome|RASopathy [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 58_THR | ILE |
ClinVar chr11:533883 rs121917758 |
Pathogenic | - | 0.9997 | Costello syndrome|not provided [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900] | |
| 58_THR | ILE |
ClinVar chr1:115256538 rs2101742052 |
Pathogenic/Likely pathogenic | - | 0.9997 | RASopathy|Noonan syndrome and Noonan-related syndrome|not provided|Colorectal cancer|Noonan syndrome 1 [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648] | |
| 59_ALA | THR |
ClinVar chr12:25380283 rs121913528 |
Pathogenic/Likely pathogenic | - | 0.997 | Bladder cancer, transitional cell, somatic|Neoplasm of the large intestine [MedGen:C4016403|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404] | |
| 59_ALA | THR |
ClinVar chr11:533881 rs727503093 |
Likely pathogenic | - | 0.997 | Non-small cell lung carcinoma|Costello syndrome [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071] | |
| 59_ALA | THR |
ClinVar chr1:115256536 rs730880965 |
Pathogenic/Likely pathogenic | - | 0.997 | not provided|Noonan syndrome 6 [MedGen:CN517202|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648] | |
| 59_ALA | SER |
ClinVar chr12:25380283 rs121913528 |
Pathogenic/Likely pathogenic | - | 0.9532 | not provided [MedGen:C3661900] | |
| 59_ALA | ASP |
ClinVar chr1:115256535 - |
Likely pathogenic | - | 0.9998 | Anemia|Noonan syndrome [Human Phenotype Ontology:HP:0001903,Human Phenotype Ontology:HP:0001926,Human Phenotype Ontology:HP:0003136,Human Phenotype Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648] | |
| 59_ALA | GLY |
ClinVar chr11:533880 - |
Pathogenic | - | 0.9893 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 60_GLY | ARG |
ClinVar chr12:25380280 rs104894359 |
Pathogenic | - | 0.9999 | Cardiofaciocutaneous syndrome 2|RASopathy|not provided|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Inborn genetic diseases|Noonan syndrome 3 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 60_GLY | SER |
ClinVar chr12:25380280 rs104894359 |
Pathogenic | - | 0.9992 | Noonan syndrome 3|not provided|RASopathy|Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340] | |
| 60_GLY | GLU |
ClinVar chr1:115256532 rs267606920 |
Pathogenic | - | 0.9999 | Noonan syndrome 6|not provided|Noonan syndrome 1|RASopathy|NRAS-related condition [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|] | |
| 60_GLY | ASP |
ClinVar chr11:533877 rs730880460 |
Pathogenic | - | 0.9999 | not provided|Costello syndrome [MedGen:C3661900|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071] | |
| 60_GLY | VAL |
ClinVar chr12:25380279 rs727503108 |
Pathogenic/Likely pathogenic | - | 0.9997 | Non-small cell lung carcinoma|Cardio-facio-cutaneous syndrome [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|not provided|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 60_GLY | VAL |
ClinVar chr11:533877 rs730880460 |
Pathogenic | - | 0.9997 | not provided|6 conditions [MedGen:C3661900|6 conditions] | |
| 60_GLY | ARG |
ClinVar chr1:115256533 rs1557982817 |
Likely pathogenic | - | 0.9999 | not provided [MedGen:CN517202] | |
| 60_GLY | SER |
ClinVar chr11:533878 rs1589792804 |
Likely pathogenic | - | 0.9992 | Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071] | |
| 60_GLY | VAL |
ClinVar chr1:115256532 rs267606920 |
Likely pathogenic | - | 0.9997 | Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733] | |
| 61_GLN | LEU |
VAR_006838
rs121913233 |
US | - | 0.9779 | Melanoma | |
| 61_GLN | LYS |
VAR_045979
rs28933406 |
LP/P | - | 0.9878 | Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] | |
| 61_GLN | LYS |
ClinVar chr11:533875 rs28933406 |
Pathogenic/Likely pathogenic | - | 0.9878 | Thyroid cancer, nonmedullary, 2|Spermatocytic seminoma|Breast neoplasm|Noonan syndrome 3|not provided|Lip and oral cavity carcinoma [MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:CN517202|MONDO:MONDO:0023644,MedGen:C0220641] | |
| 61_GLN | ARG |
ClinVar chr1:115256529 rs11554290 |
Pathogenic | - | 0.991 | Thyroid cancer, nonmedullary, 2|Epidermal nevus|Non-small cell lung carcinoma|Large congenital melanocytic nevus|Neurocutaneous melanocytosis|Linear nevus sebaceous syndrome|not provided|Adrenal cortex carcinoma|Ovarian serous cystadenocarcinoma|Malignant melanoma of skin|Nasopharyngeal neoplasm|B-cell chronic lymphocytic leukemia|Papillary renal cell carcinoma type 1|Neoplasm of the large intestine|Melanoma|Glioblastoma|Transitional cell carcinoma of the bladder|Neoplasm of brain|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Multiple myeloma|Gastric adenocarcinoma|Hepatocellular carcinoma|Acute myeloid leukemia [MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0005600,Human Phenotype Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626|MONDO:MONDO:0009578,MedGen:C0544862,OMIM:249400,Orphanet:2481|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MedGen:C3661900|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C0153574|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519] | |
| 61_GLN | LEU |
ClinVar chr12:25380276 rs121913240 |
Pathogenic | - | 0.9779 | Non-small cell lung carcinoma|Medullary thyroid carcinoma|Thyroid tumor|Neoplasm of the large intestine|Multiple myeloma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orphanet:1332|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443] | |
| 61_GLN | HIS |
ClinVar chr12:25380275 rs17851045 |
Pathogenic/Likely pathogenic | - | 0.9989 | Lung adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Multiple myeloma|Acute myeloid leukemia|Neoplasm of the large intestine|Malignant melanoma of skin|Thyroid tumor|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Cerebral arteriovenous malformation|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131] | |
| 61_GLN | ARG |
ClinVar chr11:533874 rs121913233 |
Likely pathogenic | - | 0.991 | Linear nevus sebaceous syndrome|not provided|Thyroid tumor|Neoplasm|Vascular Tumors Including Pyogenic Granuloma|Noonan syndrome and Noonan-related syndrome|Salivary gland neoplasm [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MedGen:C3661900|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651||MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|Human Phenotype Ontology:HP:0100684,MONDO:MONDO:0021357,MedGen:C0036095] | |
| 61_GLN | LYS |
ClinVar chr12:25380277 rs121913238 |
Pathogenic | - | 0.9878 | Non-small cell lung carcinoma|Neoplasm of the large intestine|Thyroid tumor [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087] | |
| 61_GLN | PRO |
ClinVar chr1:115256529 rs11554290 |
Pathogenic | - | 0.9982 | not provided|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Melanoma|Papillary renal cell carcinoma type 1|Adrenal cortex carcinoma|Multiple myeloma|Gastric adenocarcinoma|Neoplasm of brain|Acute myeloid leukemia|Nasopharyngeal neoplasm|Non-small cell lung carcinoma|Neoplasm of the large intestine|Glioblastoma|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Thyroid tumor|Noonan syndrome 6 [MedGen:C3661900|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648] | |
| 61_GLN | HIS |
ClinVar chr1:115256528 rs121913255 |
Pathogenic/Likely pathogenic | - | 0.9989 | Non-small cell lung carcinoma|Acute myeloid leukemia|Melanoma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202] | |
| 61_GLN | GLU |
ClinVar chr1:115256530 rs121913254 |
Pathogenic | - | 0.8306 | Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202] | |
| 61_GLN | PRO |
ClinVar chr12:25380276 rs121913240 |
Pathogenic/Likely pathogenic | - | 0.9982 | Thyroid tumor|Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404] | |
| 61_GLN | TER |
ClinVar chr1:115256530 rs121913254 |
Likely pathogenic | - | - | Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202] | |
| 61_GLN | HIS |
ClinVar chr11:533873 rs121913496 |
Likely pathogenic | - | 0.9989 | Transitional cell carcinoma of the bladder|Neoplasm|Breast neoplasm|Malignant melanoma of skin|Prostate adenocarcinoma|Squamous cell carcinoma of the head and neck|Thyroid tumor|Lung adenocarcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Noonan syndrome 3 [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 61_GLN | HIS |
ClinVar chr11:533873 rs121913496 |
Likely pathogenic | - | 0.9989 | Neoplasm [Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651] | |
| 61_GLN | PRO |
ClinVar chr11:533874 rs121913233 |
Likely pathogenic | - | 0.9982 | Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Multiple myeloma|B-cell chronic lymphocytic leukemia|Neoplasm|Neoplasm of the large intestine|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Gastric adenocarcinoma|Squamous cell lung carcinoma|Thyroid tumor|Hepatocellular carcinoma|Lung adenocarcinoma [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013] | |
| 61_GLN | GLU |
ClinVar chr12:25380277 rs121913238 |
Likely pathogenic | - | 0.8306 | Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404] | |
| 61_GLN | GLU |
ClinVar chr11:533875 rs28933406 |
Likely pathogenic | - | 0.8306 | B-cell chronic lymphocytic leukemia|Malignant melanoma of skin|Pancreatic adenocarcinoma|Thyroid tumor|Hepatocellular carcinoma|Gastric adenocarcinoma|Squamous cell lung carcinoma|Transitional cell carcinoma of the bladder|Acute myeloid leukemia|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Multiple myeloma|Lung adenocarcinoma [Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013] | |
| 63_GLU | LYS |
VAR_045980
rs121917756 |
LP/P | - | 0.9979 | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] | |
| 63_GLU | LYS |
ClinVar chr11:533869 rs121917756 |
Pathogenic | - | 0.9979 | Myopathy, congenital, with excess of muscle spindles|not provided|Costello syndrome [MONDO:MONDO:0800299,MedGen:C1968782|MedGen:C3661900|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071] | |
| 63_GLU | ASP |
ClinVar chr12:25380269 rs1592808357 |
Likely pathogenic | - | 0.9647 | not provided [MedGen:CN517202] | |
| 65_SER | ILE |
ClinVar chr12:25380264 rs1555194026 |
Likely pathogenic | - | 0.955 | Noonan syndrome 3|RASopathy [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 68_ARG | SER |
ClinVar chr1:115256507 - |
Likely pathogenic | - | 0.9991 | Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648] | |
| 68_ARG | GLY |
ClinVar chr12:25380256 - |
Likely pathogenic | - | 0.9939 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 71_TYR | HIS |
ClinVar chr12:25380247 rs387907205 |
Pathogenic | - | 0.9991 | Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340] | |
| 71_TYR | ASP |
ClinVar chr12:25380247 rs387907205 |
Likely pathogenic | - | 0.9988 | Cardio-facio-cutaneous syndrome|not provided [MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MedGen:CN517202] | |
| 72_MET | LEU |
ClinVar chr12:25380244 rs727504662 |
Pathogenic/Likely pathogenic | - | 0.8699 | Noonan syndrome|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 72_MET | LEU |
ClinVar chr12:25380244 rs727504662 |
Likely pathogenic | - | 0.8699 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 74_THR | ILE |
ClinVar chr12:25380237 rs1951405479 |
Likely pathogenic | - | 0.9387 | Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648] | |
| 85_ASN | SER |
8.3kJPN chr1:115256457 rs114636410 |
- | 0.0002 | 0.1933 | - | |
| 86_ASN | THR |
gnomAD chr11:533799 rs138272051 |
- | 0.000183051 | 0.3523 | - | |
| 86_ASN | THR |
8.3kJPN chr11:533799 rs138272051 |
- | 0.0001 | 0.3523 | - | |
| 88_LYS | ARG |
8.3kJPN chr11:533793 - |
- | 0.0001 | 0.1004 | - | |
| 89_SER | CYS |
VAR_078259
rs755322824 |
US | - | 0.9576 | - | |
| 89_SER | CYS |
ClinVar chr11:533790 rs755322824 |
Likely pathogenic | - | 0.9576 | not provided [MedGen:CN517202] | |
| 90_PHE | SER |
8.3kJPN chr11:533787 - |
- | 0.0002 | 0.9941 | - | |
| 95_LEU | PRO |
8.3kJPN chr1:115256427 - |
- | 0.0001 | - | - | |
| 97_ARG | LYS |
ClinVar chr12:25380168 rs727503106 |
Likely pathogenic | - | 0.56 | Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131] | |
| 111_MET | VAL |
8.3kJPN chr1:115252309 rs776195467 |
- | 0.0001 | 0.2168 | - | |
| 112_VAL | ILE |
8.3kJPN chr12:25378664 rs775836436 |
- | 0.0001 | 0.2531 | - | |
| 116_ASN | HIS |
ClinVar chr12:25378652 rs2141506264 |
Likely pathogenic | - | 0.9976 | not provided [MedGen:C3661900] | |
| 117_LYS | ARG |
VAR_045981
rs104894227 |
LP/P | - | 0.8782 | Costello syndrome (CSTLO) [MIM:218040] | |
| 117_LYS | ARG |
ClinVar chr11:533553 rs104894227 |
Pathogenic | - | 0.8782 | Costello syndrome|not provided [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900] | |
| 117_LYS | ASN |
ClinVar chr12:25378647 rs770248150 |
Pathogenic | - | 0.9998 | Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404] | |
| 117_LYS | ASN |
ClinVar chr12:25378647 rs770248150 |
Pathogenic | - | 0.9998 | Neoplasm of the large intestine|Carcinoma of esophagus|Malignant melanoma of skin|Multiple myeloma|Hepatocellular carcinoma|Gastric adenocarcinoma|not provided|Encephalocraniocutaneous lipomatosis [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C3661900|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396] | |
| 118_CYS | TYR |
8.3kJPN chr12:25378645 - |
- | 0.0001 | 0.8399 | - | |
| 119_ASP | ASN |
ClinVar chr12:25378643 rs730880471 |
Likely pathogenic | - | 0.9966 | not provided|Noonan syndrome 3|Autoimmune lymphoproliferative syndrome type 4 [MedGen:CN517202|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114]; Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]; Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340]; Noonan syndrome 3|KRAS-related RASopathy [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|] | |
| 122_ALA | VAL |
8.3kJPN chr11:533538 rs779711606 |
- | 0.0001 | 0.1015 | - | |
| 122_ALA | THR |
8.3kJPN chr11:533539 - |
- | 0.0001 | 0.0738 | - | |
| 141_PHE | VAL |
8.3kJPN chr1:115252219 - |
- | 0.0001 | - | - | |
| 146_ALA | THR |
VAR_045982
rs104894231 |
LP/P | - | 0.9928 | Costello syndrome (CSTLO) [MIM:218040] | |
| 146_ALA | VAL |
VAR_045983
rs121917759 |
LP/P | - | 0.9948 | Costello syndrome (CSTLO) [MIM:218040] | |
| 146_ALA | THR |
ClinVar chr11:533467 rs104894231 |
Pathogenic/Likely pathogenic | - | 0.9928 | Costello syndrome|Multiple myeloma|Neoplasm of the large intestine|Gastric adenocarcinoma|Acute myeloid leukemia|Neoplasm of uterine cervix|Lung adenocarcinoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013] | |
| 146_ALA | VAL |
ClinVar chr11:533466 rs121917759 |
Likely pathogenic | - | 0.9948 | Costello syndrome|Neoplasm of the large intestine|Acute myeloid leukemia|Gastric adenocarcinoma|Multiple myeloma|Neoplasm of uterine cervix|Lung adenocarcinoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013] | |
| 146_ALA | PRO |
ClinVar chr12:25378562 rs121913527 |
Pathogenic/Likely pathogenic | - | 0.9966 | Neoplasm of the large intestine|Multiple myeloma|Autoimmune lymphoproliferative syndrome type 4|RASopathy [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 146_ALA | PRO |
ClinVar chr11:533467 rs104894231 |
Likely pathogenic | - | 0.9966 | Neoplasm of uterine cervix|Acute myeloid leukemia|Neoplasm of the large intestine|Multiple myeloma|Lung adenocarcinoma|Gastric adenocarcinoma [Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701] | |
| 147_LYS | GLU |
ClinVar chr12:25378559 rs387907206 |
Pathogenic/Likely pathogenic | - | 0.9943 | Cardiofaciocutaneous syndrome 2|not provided [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:CN517202] | |
| 147_LYS | ARG |
ClinVar chr12:25378558 rs1135401776 |
Pathogenic | - | 0.2139 | Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 147_LYS | MET |
ClinVar chr12:25378558 - |
Likely pathogenic | - | 0.9638 | Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 147_LYS | ASN |
ClinVar chr12:25378557 - |
Likely pathogenic | - | 0.998 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 149_ARG | TER |
ClinVar chr12:25378553 rs2141505552 |
Likely pathogenic | - | - | Thyroid cancer, nonmedullary, 1 [MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550] | |
| 150_GLN | ARG |
ClinVar chr1:115252191 rs2101738598 |
Likely pathogenic | - | 0.255 | Noonan syndrome 6 [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648] | |
| 152_VAL | GLY |
ClinVar chr12:25362841 rs104894367 |
Pathogenic | - | 0.9627 | Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 152_VAL | PHE |
ClinVar chr12:25362842 rs397517041 |
Likely pathogenic | - | 0.9967 | Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648] | |
| 153_ASP | VAL |
ClinVar chr12:25362838 rs104894360 |
Pathogenic | - | - | Noonan syndrome 3|Cardiofaciocutaneous syndrome 2|RASopathy|not provided|not specified|Noonan syndrome|11 conditions|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|11 conditions|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Inborn genetic diseases|Noonan syndrome 1 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648] | |
| 153_ASP | GLY |
ClinVar chr12:25362838 rs104894360 |
Pathogenic/Likely pathogenic | - | - | Noonan syndrome|not provided|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 153_ASP | ASN |
ClinVar chr12:25362839 rs1565878932 |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
| 153_GLU | VAL |
ClinVar chr12:25368487 rs1592798693 |
Likely pathogenic | - | 0.9592 | Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 153_GLU | ALA |
ClinVar chr12:25368487 rs1592798693 |
Likely pathogenic | - | 0.9056 | Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648] | |
| 154_ASP | GLY |
ClinVar chr12:25362835 rs2141481712 |
Likely pathogenic | - | 0.5487 | Hereditary breast ovarian cancer syndrome [MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145] | |
| 156_PHE | LEU |
ClinVar chr12:25362828 rs104894362 |
Pathogenic | - | 0.9994 | Cardiofaciocutaneous syndrome 2|not provided|RASopathy|KRAS-related condition [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|] | |
| 156_PHE | VAL |
ClinVar chr12:25362830 rs397517042 |
Pathogenic/Likely pathogenic | - | 0.9823 | Noonan syndrome|not provided [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:CN517202] | |
| 156_PHE | ILE |
ClinVar chr12:25362830 rs397517042 |
Pathogenic | - | 0.9905 | Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]; Cardio-facio-cutaneous syndrome|not provided|Noonan syndrome 3 [MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MedGen:CN517202|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648] | |
| 156_PHE | LEU |
ClinVar chr11:532738 rs770648642 |
Pathogenic | - | 0.9994 | not provided [MedGen:C3661900] | |
| 156_PHE | LEU |
ClinVar chr11:532740 rs2133982557 |
Pathogenic | - | 0.9994 | Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071] | |
| 156_PHE | SER |
ClinVar chr12:25362829 - |
Likely pathogenic | - | 0.9983 | RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391] | |
| 159_LEU | SER |
8.3kJPN chr12:25368469 - |
- | 0.0001 | 0.9942 | - | |
| 161_ARG | GLY |
8.3kJPN chr11:532725 - |
- | 0.0001 | 0.9721 | - | |
| 162_GLU | ASP |
8.3kJPN chr12:25368459 - |
- | 0.0001 | 0.8388 | - | |
| 163_ILE | VAL |
8.3kJPN chr12:25368458 - |
- | 0.0001 | 0.5597 | - | |
| 164_ARG | HIS |
8.3kJPN chr1:115251235 rs758669528 |
- | 0.0005 | 0.8351 | - | |
| 164_ARG | GLN |
8.3kJPN chr11:532715 rs753977266 |
- | 0.0001 | 0.7268 | - | |
| 164_ARG | TER |
8.3kJPN chr12:25368455 rs200186819 |
- | 0.0001 | - | - | |
| 166_TYR | HIS |
8.3kJPN chr12:25368449 rs397517476 |
- | 0.0002 | - | - |