PDB ID 3DDC     CHAIN A
Protein name GTPase HRas
Uniprot Accession P01112
The number of similar proteins 772
The number of binding states 38
The number of binding partners 28

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 8WWC  
13 Q9QZQ1  
14 P62937  
15 Q4ACU6  
16 P48736  
17 Q14449  
18 2C5L  
19 5UFQ  
20 P40337  
21 9GLZ  
22 P07900  
23 7NY8  
24 5MLB  
25 8BE3  
26 O43924  
27 Q8N653  
28 P01112   P01112  
29 2UZI   2UZI  
30 5WPL   5WPL  
31 P62937   P62937  
32 P04049   P02647  
33 Q07889   8BE4  
34 P01116-2   O15211   O15211  
35 P01116   P62937   P62937  
36 P01116   P01116   P01116  
37 Q07889   8BE5   8BE5  
38 P01116   P01116   P01116   P01116  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MTEYKLVVVG   AGGVGKSALT   IQLIQNHFVE   KYDPTIEDSY   RKQVVIDGET   50
51   CLLDILDTAG   QEEYSAMRDQ   YMRTGEGFLC   VFAINNTKSF   EDIHQYREQI   100
101   KRVKDSDDVP   MVLVGNKCDL   AARTVESRQA   QDLARSYGIP   YIETSAKTRQ   150
151   GVEDAFYTLV   REIRQH         200

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|RASopathy [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
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 disorder [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
rs193929331
Likely pathogenic - 0.9417 RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
7_VAL GLU ClinVar
chr12:25398299
rs2135806346
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|Lung adenocarcinoma|Gallbladder cancer|not provided|RASopathy|Lung cancer|Neoplasm|Adenocarcinoma of the large intestine|Embryonal rhabdomyosarcoma|Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype|Ovarian mucinous adenocarcinoma [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:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0005411,MedGen:C0153452|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980|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:0040275,MONDO:MONDO:0005008,MedGen:C1319315|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|MONDO:MONDO:0858939,MedGen:C5669918|MONDO:MONDO:0005601,MedGen:C1335167,Orphanet:398961]
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|not provided|RASopathy|Neoplasm|Adenoid cystic carcinoma [Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606]
12_GLY ASP ClinVar
chr12:25398284
rs121913529
Pathogenic/Likely 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|Ovarian neoplasm|not provided|Acute myeloid leukemia|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,MedGen:C0235974,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|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|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|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|Cardiovascular phenotype|Congenital Pulmonary Airway Malformations|Neoplasm|12 conditions|Embryonal rhabdomyosarcoma|Papillary thyroid carcinoma|Alveolar rhabdomyosarcoma|Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype|Colorectal cancer|Medulloblastoma non-WNT/non-SHH|Glioma|Adenocarcinoma of the large intestine|Ovarian mucinous adenocarcinoma|Precursor B-cell acute lymphoblastic leukemia|Diffuse midline glioma, H3 K27M-mutant [MONDO:MONDO:0006193,MedGen:C1516855|MedGen:CN230736||Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|12 conditions|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|Human Phenotype Ontology:HP:0002895,MONDO:MONDO:0005075,MeSH:D000077273,MedGen:C0238463,Orphanet:146|Human Phenotype Ontology:HP:0006779,MONDO:MONDO:0009994,MedGen:C0206655,OMIM:268220,Orphanet:780,Orphanet:99756|MONDO:MONDO:0858939,MedGen:C5669918|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0850198,MedGen:C4330667|Human Phenotype Ontology:HP:0009733,MONDO:MONDO:0021042,MeSH:D005910,MedGen:C0017638,Orphanet:182067|Human Phenotype Ontology:HP:0040275,MONDO:MONDO:0005008,MedGen:C1319315|MONDO:MONDO:0005601,MedGen:C1335167,Orphanet:398961|Human Phenotype Ontology:HP:0004812,MONDO:MONDO:0020511,MedGen:C0349636,Orphanet:99860|MONDO:MONDO:0957196,MedGen:C4289688]
12_GLY VAL ClinVar
chr12:25398284
rs121913529
Pathogenic - 0.9954 Carcinoma of pancreas|Nevus sebaceous|not provided|Juvenile myelomonocytic leukemia|Non-small cell lung carcinoma|Cerebral arteriovenous malformation|Chronic myelogenous leukemia, BCR-ABL1 positive|Lung sarcomatoid carcinoma|Linear nevus sebaceous syndrome|RASopathy|Neoplasm|Colorectal cancer|Ovarian mucinous adenocarcinoma|Adenocarcinoma of the large intestine|Germinoma [MONDO:MONDO:0005192,MedGen:C0235974,Orphanet:1333,Orphanet:217074|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MedGen:C3661900|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|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|MONDO:MONDO:0006279,MedGen:C1708781|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0005601,MedGen:C1335167,Orphanet:398961|Human Phenotype Ontology:HP:0040275,MONDO:MONDO:0005008,MedGen:C1319315|Human Phenotype Ontology:HP:0100620,MONDO:MONDO:0002598,MedGen:C0206660]
12_GLY SER ClinVar
chr12:25398285
rs121913530
Pathogenic - 0.9891 Gastric cancer|Non-small cell lung carcinoma|Ovarian neoplasm|Juvenile myelomonocytic leukemia|not provided|RASopathy|Neoplasm|Vascular malformation|Cardiofaciocutaneous syndrome 2|Rhabdomyosarcoma|Neuroblastoma [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|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0024291,MedGen:C0158570|MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635]
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|HRAS-related disorder|Cardiovascular phenotype [MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800|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||MedGen:CN230736]
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|Wooly hair nevus|Lip and oral cavity carcinoma|Rhabdomyosarcoma|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|See cases|HRAS-related disorder|Noonan syndrome 1|Epidermal nevus|Embryonal rhabdomyosarcoma [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|MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|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|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757]
12_GLY ALA ClinVar
chr11:534288
rs104894230
Pathogenic - 0.9653 Costello syndrome|not provided|Inborn genetic diseases|6 conditions|Rhabdomyosarcoma|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|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|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome|HRAS-related disorder [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|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|6 conditions|Embryonal rhabdomyosarcoma [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|6 conditions|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757]
12_GLY ASP ClinVar
chr1:115258747
rs121913237
Pathogenic/Likely pathogenic - 0.9981 Epidermal nevus|Juvenile myelomonocytic leukemia|not provided|RASopathy|Noonan syndrome 6|Noonan syndrome and Noonan-related syndrome|Autoimmune lymphoproliferative syndrome type 4|NRAS-related disorder|Cardiovascular phenotype|Germinoma|Colorectal cancer|Neoplasm|Large congenital melanocytic nevus [Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114||MedGen:CN230736|Human Phenotype Ontology:HP:0100620,MONDO:MONDO:0002598,MedGen:C0206660|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|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:0005600,Human Phenotype Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626]
12_GLY CYS ClinVar
chr1:115258748
rs121913250
Pathogenic - 0.9978 not provided|Chronic myelogenous leukemia, BCR-ABL1 positive|Neoplasm|Embryonal rhabdomyosarcoma|Acute myeloid leukemia [MedGen:C3661900|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:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|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]
12_GLY ARG ClinVar
chr1:115258748
rs121913250
Pathogenic - 0.9976 not provided|Increased nuchal translucency|Noonan syndrome 6 [MedGen:C3661900|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|RASopathy|Neoplasm|Embryonal rhabdomyosarcoma|Colorectal cancer|Ovarian Sertoli-Leydig cell tumor|Autoimmune lymphoproliferative syndrome type 4 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|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:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0036595,MedGen:C0003810|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114]
12_GLY ALA ClinVar
chr12:25398284
rs121913529
Pathogenic/Likely pathogenic - 0.9653 Non-small cell lung carcinoma|Multiple myeloma|not provided|Gallbladder cancer|Neoplasm|KRAS-related disorder|Lung cancer|12 conditions|Pilocytic astrocytoma|High-grade astrocytoma with piloid features [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|MedGen:C3661900|MONDO:MONDO:0005411,MedGen:C0153452|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651||MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980|12 conditions|Human Phenotype Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612|MONDO:MONDO:0858958,MedGen:C5670122]
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|RASopathy|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 6|Neoplasm|Colorectal cancer [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500]
12_GLY ALA ClinVar
chr1:115258747
rs121913237
Pathogenic/Likely pathogenic - 0.9653 Myelodysplastic syndrome progressed to acute myeloid leukemia|not provided|RASopathy|Noonan syndrome and Noonan-related syndrome|Autoimmune lymphoproliferative syndrome type 4|Noonan syndrome 6|Colorectal cancer|Embryonal rhabdomyosarcoma|Germinoma [|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|Human Phenotype Ontology:HP:0100620,MONDO:MONDO:0002598,MedGen:C0206660]
12_GLY ARG ClinVar
chr11:534289
rs104894229
Likely pathogenic - 0.9976 Costello syndrome [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 ASP ClinVar
chr12:25398281
rs112445441
Pathogenic - 0.9987 Breast adenocarcinoma|Non-small cell lung carcinoma|Juvenile myelomonocytic leukemia|Autoimmune lymphoproliferative syndrome type 4|OCULOECTODERMAL SYNDROME, SOMATIC|not provided|Inborn genetic diseases|Nevus sebaceous|Noonan syndrome and Noonan-related syndrome|Encephalocraniocutaneous lipomatosis|RASopathy|Neoplasm|KRAS-related disorder|Familial pancreatic carcinoma|Melanoma|Acute myeloid leukemia|Malignant tumor of urinary bladder|Cervical cancer|Colorectal cancer|Adenocarcinoma of the large intestine|Embryonal rhabdomyosarcoma|Diffuse midline glioma, H3 K27M-mutant [MONDO:MONDO:0004988,MedGen:C0858252|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114||MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651||MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333|MedGen:C0025202|MedGen:C0023467|MedGen:C0005684|MedGen:C4048328|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0040275,MONDO:MONDO:0005008,MedGen:C1319315|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|MONDO:MONDO:0957196,MedGen:C4289688]
13_GLY ARG ClinVar
chr12:25398282
rs121913535
Pathogenic - 0.998 Pilocytic astrocytoma|Non-small cell lung carcinoma|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|MedGen:C3661900]
13_GLY ASP ClinVar
chr11:534285
rs104894226
Pathogenic - 0.9987 Costello syndrome|not provided|RASopathy|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome|6 conditions|HRAS-related disorder|Malignant tumor of urinary bladder|Melanoma|Embryonal rhabdomyosarcoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|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||MedGen:C0005684|MedGen:C0025202|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757]
13_GLY CYS ClinVar
chr11:534286
rs104894228
Pathogenic - 0.9925 Costello syndrome|RASopathy|not provided|Noonan syndrome|6 conditions|Noonan syndrome and Noonan-related syndrome|HRAS-related disorder|Linear nevus sebaceous syndrome|Rhabdomyosarcoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|6 conditions|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733||Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780]
13_GLY ARG ClinVar
chr1:115258745
rs121434595
Likely pathogenic - 0.998 Carcinoma of colon|Large congenital melanocytic nevus|Acute myeloid leukemia|Noonan syndrome 6|Linear nevus sebaceous syndrome|not provided|Rhabdomyosarcoma [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: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:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MedGen:C3661900|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780]
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|Acute megakaryoblastic leukemia in down syndrome|NRAS-related disorder|RASopathy|Colorectal cancer|Melanoma|Acute myeloid leukemia|Acute myeloid leukemia with NPM1 somatic mutations|Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype|Neoplasm|Embryonal rhabdomyosarcoma [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:C3661900|MONDO:MONDO:0020526,MedGen:C5925108,Orphanet:99887||MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C0346629|MedGen:C0025202|MedGen:C0023467|MONDO:MONDO:0018437,MedGen:C4706386,Orphanet:402026|MONDO:MONDO:0858939,MedGen:C5669918|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:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757]
13_GLY ARG ClinVar
chr11:534286
rs104894228
Pathogenic/Likely pathogenic - 0.998 Nevus sebaceous|Linear nevus sebaceous syndrome|Epidermal nevus|SPITZ NEVUS, SOMATIC|NEVUS SPILUS, SOMATIC|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Costello syndrome|cutaneous-skeletal hypophosphatemia syndrome|Noonan syndrome and Noonan-related syndrome|HRAS-related disorder|Ectomesenchymoma|Alveolar rhabdomyosarcoma|Breast phyllodes tumor|Embryonal rhabdomyosarcoma [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:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|||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:0002855,MedGen:C0431111|Human Phenotype Ontology:HP:0006779,MONDO:MONDO:0009994,MedGen:C0206655,OMIM:268220,Orphanet:780,Orphanet:99756|MONDO:MONDO:0021047,MedGen:C0238031|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757]
13_GLY CYS ClinVar
chr12:25398282
rs121913535
Pathogenic/Likely pathogenic - 0.9925 Non-small cell lung carcinoma|Autoimmune lymphoproliferative syndrome type 4|not provided|KRAS-related disorder [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MedGen:C3661900|]
13_GLY VAL ClinVar
chr12:25398281
rs112445441
Pathogenic - 0.9973 Non-small cell lung carcinoma|not provided [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:C3661900]
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/Likely pathogenic - 0.9973 not provided|Costello syndrome|Lip and oral cavity carcinoma|KA-like vemurafenib-induced squamous lesions|Linear nevus sebaceous syndrome|Large congenital melanocytic nevus|Rhabdomyosarcoma|Neoplasm [MedGen:C3661900|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0023644,MedGen:C0220641||Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0005600,Human Phenotype Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651]
13_GLY VAL ClinVar
chr1:115258744
rs121434596
Likely pathogenic - 0.9973 Cardiovascular phenotype|Embryonal rhabdomyosarcoma|Medulloblastoma non-WNT/non-SHH group 3 [MedGen:CN230736|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|MONDO:MONDO:0956966,MedGen:C4330665]
13_GLY SER ClinVar
chr11:534286
rs104894228
Likely pathogenic - 0.9793 Vascular Tumors Including Pyogenic Granuloma|Costello syndrome [|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
14_VAL ILE ClinVar
chr12:25398279
rs104894365
Pathogenic - 0.9024 Noonan syndrome 3|Endometrial carcinoma|RASopathy|not provided|Cardio-facio-cutaneous 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:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|Colorectal cancer [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500]
15_GLY VAL ClinVar
chr12:25398275
rs1555195579
Likely pathogenic - 0.9998 not provided [MedGen:CN517202]
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|Encephalocraniocutaneous lipomatosis|RASopathy [|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 not provided|Neoplasm [MedGen:C3661900|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651]
20_THR MET ClinVar
chr12:25398260
-
Likely pathogenic - - not provided [MedGen:C3661900]
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|HRAS-related disorder [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|Noonan syndrome 3|12 conditions [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|12 conditions]
22_GLN LEU ClinVar
chr12:25398254
rs727503110
Likely pathogenic - 0.9848 not provided [MedGen:C3661900]
22_GLN LYS ClinVar
chr12:25398255
rs121913236
Pathogenic/Likely pathogenic - 0.9911 Linear nevus sebaceous syndrome|RASopathy|Neoplasm|Vascular malformation|not provided|Low grade glioma|High-grade astrocytoma with piloid features|Embryonal rhabdomyosarcoma|Pilocytic astrocytoma [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0024291,MedGen:C0158570|MedGen:C3661900|MONDO:MONDO:0021637,MedGen:C1997217|MONDO:MONDO:0858958,MedGen:C5670122|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|Human Phenotype Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612]
23_LEU ARG ClinVar
chr11:534255
-
Likely pathogenic - 0.9887 Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
24_ILE ASN ClinVar
chr1:115258711
rs869025573
Likely pathogenic - 0.9957 Noonan syndrome 1|not provided|RASopathy [MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
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|not provided|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:C3661900|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Autoimmune lymphoproliferative syndrome type 4 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,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|RASopathy|Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
34_PRO LEU ClinVar
chr1:115258681
rs397514553
Pathogenic - 0.9987 Epidermal nevus|Noonan syndrome 1|Acute myeloid leukemia [Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|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]
34_PRO LEU ClinVar
chr12:25398218
rs104894366
Pathogenic - 0.9987 Noonan syndrome|not provided|RASopathy|Noonan syndrome 3|Noonan syndrome 1 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648]
34_PRO GLN ClinVar
chr12:25398218
rs104894366
Likely pathogenic - 0.9996 KRAS-related disorder [-]
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|KRAS-related disorder [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 1|Noonan syndrome|RASopathy [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
50_THR PRO ClinVar
chr12:25380310
rs730880470
Likely pathogenic - 0.4023 not provided [MedGen:C3661900]
50_THR ASN ClinVar
chr1:115256562
-
Likely pathogenic - - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
53_LEU TRP ClinVar
chr12:25380300
-
Likely pathogenic - - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
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|HRAS-related disorder|RASopathy [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900||MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
58_THR ILE ClinVar
chr1:115256538
rs2101742052
Pathogenic - 0.9997 RASopathy|Colorectal cancer|Noonan syndrome and Noonan-related syndrome|not provided|Noonan syndrome 1|Noonan syndrome [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
59_ALA THR ClinVar
chr12:25380283
rs121913528
Pathogenic - 0.997 Bladder cancer, transitional cell, somatic [MedGen:C4016403]
59_ALA THR ClinVar
chr11:533881
rs727503093
Likely pathogenic - 0.997 Non-small cell lung carcinoma|Costello syndrome|RASopathy [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
59_ALA SER ClinVar
chr12:25380283
rs121913528
Pathogenic/Likely pathogenic - 0.9532 not provided [MedGen:C3661900]
59_ALA ASP ClinVar
chr1:115256535
rs1570874751
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
rs2133991112
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|Noonan syndrome 3|Inborn genetic diseases [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MeSH:D030342,MedGen:C0950123]
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 disorder|Cardiovascular phenotype [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||MedGen:CN230736]
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|Noonan syndrome [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]; Cardio-facio-cutaneous syndrome|not provided|RASopathy [MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
60_GLY VAL ClinVar
chr11:533877
rs730880460
Pathogenic - 0.9997 not provided|6 conditions|Costello syndrome [MedGen:C3661900|6 conditions|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
60_GLY ARG ClinVar
chr1:115256533
rs1557982817
Likely pathogenic - 0.9999 not provided [MedGen:C3661900]
60_GLY SER ClinVar
chr11:533878
rs1589792804
Likely pathogenic - 0.9992 Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
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|Noonan syndrome 3|not provided|Lip and oral cavity carcinoma|Epidermal nevus|Familial medullary thyroid carcinoma|Embryonal rhabdomyosarcoma|Neuroblastoma [MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|MONDO:MONDO:0020513,MedGen:C0334517,Orphanet:99865|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MONDO:MONDO:0007958,MedGen:C1833921,OMIM:155240,Orphanet:653,Orphanet:99361|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635]
61_GLN ARG ClinVar
chr1:115256529
rs11554290
Pathogenic - 0.991 Thyroid cancer, nonmedullary, 2|Non-small cell lung carcinoma|Epidermal nevus|Large congenital melanocytic nevus|Neurocutaneous melanocytosis|Linear nevus sebaceous syndrome|not provided|Noonan syndrome 6|Neoplasm|Colorectal cancer|Vascular malformation|Embryonal rhabdomyosarcoma|Melanoma|Germinoma|Follicular thyroid carcinoma|Nodal T-follicular helper cell lymphoma|Diffuse midline glioma, H3 K27M-mutant [MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|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|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0024291,MedGen:C0158570|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757|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:0100620,MONDO:MONDO:0002598,MedGen:C0206660|Human Phenotype Ontology:HP:0006731,MONDO:MONDO:0005034,MedGen:C0206682||MONDO:MONDO:0957196,MedGen:C4289688]
61_GLN LEU ClinVar
chr12:25380276
rs121913240
Pathogenic - 0.9779 Non-small cell lung carcinoma|Multiple myeloma|Neoplasm|Medullary thyroid carcinoma|Germinoma [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:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0002865,MONDO:MONDO:0015277,MeSH:C536914,MedGen:C0238462,Orphanet:1332|Human Phenotype Ontology:HP:0100620,MONDO:MONDO:0002598,MedGen:C0206660]
61_GLN HIS ClinVar
chr12:25380275
rs17851045
Pathogenic - 0.9989 Non-small cell lung carcinoma|Cerebral arteriovenous malformation|Vascular malformation [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724|MONDO:MONDO:0024291,MedGen:C0158570]
61_GLN ARG ClinVar
chr11:533874
rs121913233
Likely pathogenic - 0.991 Linear nevus sebaceous syndrome|not provided|Vascular Tumors Including Pyogenic Granuloma|Noonan syndrome and Noonan-related syndrome|Salivary gland neoplasm|6 conditions|Neuroblastoma|Neoplasm [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MedGen:C3661900||MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|Human Phenotype Ontology:HP:0100684,MONDO:MONDO:0021357,MedGen:C0036095|6 conditions|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651]
61_GLN LYS ClinVar
chr12:25380277
rs121913238
Pathogenic - 0.9878 Non-small cell lung carcinoma|Colon adenocarcinoma|Thyroid cancer, nonmedullary, 1 [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:C0338106|MedGen:C4721429]
61_GLN PRO ClinVar
chr1:115256529
rs11554290
Pathogenic - 0.9982 not provided|Noonan syndrome 6 [MedGen:C3661900|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
61_GLN HIS ClinVar
chr11:533873
rs121913496
Likely pathogenic - 0.9989 Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
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]
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
rs2526451293
Likely pathogenic - 0.9991 Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
68_ARG GLY ClinVar
chr12:25380256
rs2141509883
Likely pathogenic - 0.9939 RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
68_ARG TRP ClinVar
chr12:25380256
rs2141509883
Likely pathogenic - - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
68_ARG SER ClinVar
chr12:25380254
-
Pathogenic - 0.9991 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:C3661900]
72_MET LEU ClinVar
chr12:25380244
rs727504662
Pathogenic/Likely pathogenic - 0.8699 Noonan syndrome|RASopathy|not provided [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900]
72_MET LEU ClinVar
chr12:25380244
rs727504662
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]
77_GLY CYS ClinVar
chr12:25380229
rs2141509652
Likely pathogenic - - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,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:C3661900]
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 SER ClinVar
chr12:25378651
rs202247812
Likely pathogenic - - Noonan syndrome 1|not provided [MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MedGen:C3661900]
116_ASN HIS ClinVar
chr12:25378652
rs2141506264
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|RASopathy [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
117_LYS ASN ClinVar
chr12:25378647
rs770248150
Pathogenic - 0.9998 not provided|Encephalocraniocutaneous lipomatosis|Colorectal cancer|Primary intracranial sarcoma, DICER1-mutant|Embryonal rhabdomyosarcoma [MedGen:C3661900|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0858967,MedGen:C5670660|Human Phenotype Ontology:HP:0006743,MONDO:MONDO:0009993,MedGen:C0206656,Orphanet:99757]
117_LYS THR ClinVar
chr12:25378648
rs2141506236
Likely pathogenic - - Cardiovascular phenotype [MedGen:CN230736]
117_LYS ARG ClinVar
chr12:25378648
-
Likely pathogenic - 0.8782 Linear nevus sebaceous syndrome [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612]
118_CYS TYR 8.3kJPN
chr12:25378645
-
- 0.0001 0.8399 -
119_ASP ASN ClinVar
chr12:25378643
rs730880471
Likely pathogenic - 0.9966 not provided|Autoimmune lymphoproliferative syndrome type 4 [MedGen:C3661900|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114]; Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340]; 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]; Noonan syndrome 3|Noonan syndrome 3|KRAS-related RASopathy [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|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 - 0.9928 Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
146_ALA VAL ClinVar
chr11:533466
rs121917759
Likely pathogenic - 0.9948 Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
146_ALA VAL ClinVar
chr12:25378561
rs1057519725
Pathogenic/Likely pathogenic - 0.9948 OCULOECTODERMAL SYNDROME, SOMATIC|Encephalocraniocutaneous lipomatosis|not provided|RASopathy|Malignant tumor of urinary bladder|Familial pancreatic carcinoma [|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800|MONDO:MONDO:0015278,MedGen:C2931038,OMIM:260350,Orphanet:1333]
146_ALA PRO ClinVar
chr12:25378562
rs121913527
Pathogenic/Likely pathogenic - 0.9966 Multiple myeloma|RASopathy|Autoimmune lymphoproliferative syndrome type 4 [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114]
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:C3661900]
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
rs1135401776
Likely pathogenic - 0.9638 Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
147_LYS ASN ClinVar
chr12:25378557
rs2141505570
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 - - Cardiofaciocutaneous syndrome 2|Noonan syndrome 3|not specified|RASopathy|not provided|11 conditions|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:CN169374|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|11 conditions|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Noonan syndrome 1|Cardiovascular phenotype|KRAS-related disorder [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MedGen:CN230736|]
153_ASP GLY ClinVar
chr12:25362838
rs104894360
Pathogenic/Likely pathogenic - - Noonan syndrome|not provided|RASopathy|KRAS-related disorder [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
Pathogenic/Likely pathogenic - 0.9592 Noonan syndrome 3|KRAS-related disorder [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 disorder [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:C3661900]
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:C3661900|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
rs2548909825
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 - -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.