MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:4983
Name:Gastrointestinal Stromal Tumors
Definition:All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).
Alternative IDs:DO:DOID:9253|OMIM:606764
ParentIDs:MESH:D005770|MESH:D009372
TreeNumbers:C04.557.450.565.370 |C06.301.371.308 |C06.405.249.308
Synonyms:Gastrointestinal Stromal Neoplasm |Gastrointestinal Stromal Neoplasms |Gastrointestinal Stromal Sarcoma |Gastrointestinal Stromal Tumor |GIST |Neoplasm, Gastrointestinal Stromal |Neoplasms, Gastrointestinal Stromal |Stromal Neoplasm, Gastrointestinal |Stromal Ne
Slim Mappings:Cancer|Digestive system disease
Reference: MedGen: D046152
MeSH: D046152
OMIM: 606764;
MSeqDR LSDB:  
Genes: KIT; PDGFRA; SDHB; SDHC;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002019Constipation
3 HP:0002015Dysphagia
NAMDC:  Dysphagia
4 HP:0100723Gastrointestinal stroma tumor
5 HP:0000953Hyperpigmentation of the skin
6 HP:0005214Intestinal obstruction
7 HP:0001176Large hands
8 HP:0001067Neurofibromas
9 HP:0003745Sporadic
10 HP:0001025Urticaria
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000038.6(APC):c.876G>C (p.Leu292Phe)324APCUncertain significancers760059672RCV000410953|RCV000677755|RCV001178393|RCV001531606; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172025112151233112151233GC5:g.112151233G>CClinGen:CA16023233C2713442 175100 Familial adenomatous polyposis 1;
NM_016724.3(FOLR1):c.-75+161G>A2348FOLR1Benignrs2071010RCV000144917|RCV001618293; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN517202117190096471900964GANC_000011.9:g.71900964G>AClinGen:CA170986C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55094349)_(55604723_?)dup3815KITUncertain significance-1RCV001033072; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045509434955604723nana-1-
NC_000004.11:g.(?_55094349)_(55604723_?)del3815KITPathogenic-1RCV001941991; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045509434955604723nana-1-
NC_000004.12:g.(?_54258759)_(54658091_?)dup3815KITUncertain significance-1RCV001033167; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045512492655524258nana-1-
NC_000004.11:g.(?_55124936)_(55604723_?)dup3815KITUncertain significance-1RCV001032589; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045512493655604723nana-1-
NC_000004.11:g.(?_55153587)_(55604733_?)dup3815KITUncertain significance-1RCV000708461; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045515358755604733nana-C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55522488)_(55604723_?)dup3815KITUncertain significance-1RCV001032089; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552248855604723nana-1-
NC_000004.12:g.(?_54656321)_(54658091_?)dup3815KITUncertain significance-1RCV001031243; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552248855524258nana-1-
NC_000004.11:g.(?_55524095)_(55606881_?)dup3815KITUncertain significance-1RCV000469105; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552409555606881nana-C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55524172)_(55524258_?)dup3815KITUncertain significance-1RCV000799424; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552417255524258nana-
NC_000004.11:g.(?_55524172)_(55604733_?)dup3815KITUncertain significance-1RCV000805902; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552417255604733nana-
NC_000004.11:g.(?_55524176)_(55604729_?)dup3815KITUncertain significance-1RCV000633943; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552417655604729nana-C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55524176)_(55604729_?)del3815KITPathogenic-1RCV000708063; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552417655604729nana-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.7G>C (p.Gly3Arg)3815KITUncertain significancers1577898451RCV000812772|RCV001027043; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245552418855524188GC4:g.55524188G>C-
NM_000222.3(KIT):c.8G>A (p.Gly3Asp)3815KITUncertain significancers1560366535RCV000700352; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552418955524189GA4:g.55524189G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.9C>G (p.Gly3=)3815KITLikely benignrs755780019RCV000633854; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419055524190CGNC_000004.11:g.55524190C>GClinGen:CA2923113C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.9C>T (p.Gly3=)3815KITUncertain significancers755780019RCV000705787; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419055524190CTNC_000004.11:g.55524190C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.10_11delinsTT (p.Ala4Phe)3815KITUncertain significancers1553881759RCV000633790; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419155524192GCTTNC_000004.11:g.55524191_55524192delinsTTClinGen:CA658796437C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.10G>C (p.Ala4Pro)3815KITUncertain significancers1192807264RCV000633721; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419155524191GC4:g.55524191G>CClinGen:CA356897846C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.11C>T (p.Ala4Val)3815KITUncertain significancers1423062466RCV001209803; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419255524192CT4:g.55524192C>T-
NM_000222.3(KIT):c.13C>G (p.Arg5Gly)3815KITUncertain significancers1716939221RCV001305274; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419455524194CG55524194-
NM_000222.3(KIT):c.14G>C (p.Arg5Pro)3815KITUncertain significancers1716939382RCV001223517; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419555524195GC4:g.55524195G>C-
NM_000222.3(KIT):c.15C>G (p.Arg5=)3815KITLikely benignrs1357038342RCV000551474; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419655524196CG4:g.55524196C>GClinGen:CA439290310C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.15C>T (p.Arg5=)3815KITLikely benign-1RCV001478096; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419655524196CT55524196-
NM_000222.3(KIT):c.17G>A (p.Gly6Asp)3815KITUncertain significancers1716939970RCV001067043; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552419855524198GA4:g.55524198G>A-
NM_000222.3(KIT):c.19G>A (p.Ala7Thr)3815KITUncertain significancers1285711357RCV000693196; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420055524200GA4:g.55524200G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.19G>T (p.Ala7Ser)3815KITUncertain significance-1RCV002045431; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420055524200GT55524200-
NM_000222.3(KIT):c.20C>T (p.Ala7Val)3815KITUncertain significance-1RCV001872300; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420155524201CT55524201-
NM_000222.3(KIT):c.21C>G (p.Ala7=)3815KITLikely benign-1RCV001450859; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420255524202CG55524202-
NM_000222.3(KIT):c.22T>C (p.Trp8Arg)3815KITUncertain significancers1577898533RCV000812308; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420355524203TC4:g.55524203T>C-
NM_000222.3(KIT):c.22T>A (p.Trp8Arg)3815KITUncertain significancers1577898533RCV001218175; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420355524203TA4:g.55524203T>A-
NM_000222.3(KIT):c.25G>A (p.Asp9Asn)3815KITUncertain significancers1476871700RCV000633743; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420655524206GANC_000004.11:g.55524206G>AClinGen:CA356897904C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.26A>G (p.Asp9Gly)3815KITUncertain significance-1RCV001963763; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552420755524207AG55524207-
NM_000222.3(KIT):c.29T>C (p.Phe10Ser)3815KITUncertain significancers1716941044RCV001239060; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552421055524210TC4:g.55524210T>C-
NM_000222.3(KIT):c.31C>T (p.Leu11Phe)3815KITUncertain significancers934366239RCV001221034; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552421255524212CT4:g.55524212C>T-
NM_000222.3(KIT):c.33C>G (p.Leu11=)3815KITUncertain significancers894439242RCV001067405; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552421455524214CG4:g.55524214C>G-
NM_000222.3(KIT):c.35G>C (p.Cys12Ser)3815KITUncertain significancers1716941861RCV001044765; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552421655524216GC4:g.55524216G>C-
NM_000222.3(KIT):c.36C>T (p.Cys12=)3815KITLikely benign-1RCV001423940; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552421755524217CT55524217-
NM_000222.3(KIT):c.37G>A (p.Val13Ile)3815KITUncertain significance-1RCV001960070; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552421855524218GA55524218-
NM_000222.3(KIT):c.44T>C (p.Leu15Pro)3815KITUncertain significance-1RCV001907335; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552422555524225TC55524225-
NM_000222.3(KIT):c.45C>T (p.Leu15=)3815KITLikely benignrs755527973RCV000466206; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552422655524226CTNC_000004.11:g.55524226C>TClinGen:CA2923115C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.45C>G (p.Leu15=)3815KITLikely benign-1RCV001447910; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552422655524226CG55524226-
NM_000222.3(KIT):c.49C>G (p.Leu17Val)3815KITUncertain significance-1RCV001941479; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423055524230CG55524230-
NM_000222.3(KIT):c.50T>C (p.Leu17Pro)3815KITUncertain significancers748615975RCV000543355|RCV001374487; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370, Orphanet:14545552423155524231TC4:g.55524231T>CClinGen:CA356897989C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.51G>A (p.Leu17=)3815KITLikely benign-1RCV001481177; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423255524232GA55524232-
NM_000222.3(KIT):c.52C>T (p.Leu18Phe)3815KITUncertain significancers370787811RCV000470178|RCV001023887|RCV001764424; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45552423355524233CTNC_000004.11:g.55524233C>TClinGen:CA2923118C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.52C>G (p.Leu18Val)3815KITUncertain significancers370787811RCV000544864; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423355524233CGNC_000004.11:g.55524233C>GClinGen:CA2923119C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.55C>A (p.Arg19Ser)3815KITUncertain significance-1RCV002008895; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423655524236CA55524236-
NM_000222.3(KIT):c.56_57delinsTT (p.Arg19Leu)3815KITUncertain significancers1577898667RCV000811659; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423755524238GCTTNC_000004.11:g.55524237_55524238delinsTT-
NM_000222.3(KIT):c.56G>A (p.Arg19His)3815KITUncertain significancers747253141RCV001024428|RCV001862287; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423755524237GA4:g.55524237G>A-
NM_000222.3(KIT):c.57C>T (p.Arg19=)3815KITLikely benignrs776887125RCV000525745; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423855524238CT4:g.55524238C>TClinGen:CA2923122C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.57C>G (p.Arg19=)3815KITLikely benign-1RCV002145380; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423855524238CG55524238-
NM_000222.3(KIT):c.58G>T (p.Val20Phe)3815KITUncertain significancers1553881787RCV000633811; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423955524239GTNC_000004.11:g.55524239G>TClinGen:CA356898011C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.58G>A (p.Val20Ile)3815KITUncertain significancers1553881787RCV001326658; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552423955524239GA55524239-
NM_000222.3(KIT):c.62A>G (p.Gln21Arg)3815KITUncertain significancers931395990RCV000551257|RCV001025103; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245552424355524243AG4:g.55524243A>GClinGen:CA96859735C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.63G>A (p.Gln21=)3815KITLikely benign-1RCV001473060; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552424455524244GA55524244-
NM_000222.3(KIT):c.65C>T (p.Thr22Ile)3815KITUncertain significancers769943127RCV000814947; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552424655524246CT4:g.55524246C>T-
NM_000222.3(KIT):c.67+5_67+18dup3815KITLikely benign-1RCV002101864; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552424955524250GGTGGGACACCGCGGC55524249-
NM_000222.3(KIT):c.67+3G>A3815KITUncertain significancers1560366820RCV000798878; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425155524251GA4:g.55524251G>A-
NM_000222.3(KIT):c.67+4G>A3815KITBenign/Likely benignrs72550820RCV000205729|RCV000250016|RCV001025554|RCV001147073|RCV001610525; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology45552425255524252GANC_000004.11:g.55524252G>AClinGen:CA349841C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.67+5G>T3815KITUncertain significancers1553881794RCV000633848; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425355524253GTNC_000004.11:g.55524253G>TClinGen:CA658796438C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.67+7C>G3815KITLikely benignrs1577898767RCV000944191|RCV001435943; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425555524255CG4:g.55524255C>G-
NM_000222.3(KIT):c.67+8A>G3815KITLikely benign-1RCV001400315; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425655524256AG55524256-
NM_000222.3(KIT):c.67+10del3815KITLikely benignrs1577898781RCV000936788|RCV001449250; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425755524257ACA4:g.55524257_55524257del-
NM_000222.3(KIT):c.67+9C>A3815KITLikely benignrs377340910RCV000933740|RCV001395813; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425755524257CA4:g.55524257C>A-
NM_000222.3(KIT):c.67+9C>T3815KITLikely benign-1RCV001444806; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425755524257CT55524257-
NM_000222.3(KIT):c.67+10C>T3815KITLikely benignrs1577898787RCV000925076; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425855524258CT4:g.55524258C>T-
NM_000222.3(KIT):c.67+11G>A3815KITLikely benign-1RCV001912632; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552425955524259GA55524259-
NM_000222.3(KIT):c.67+12C>T3815KITConflicting interpretations of pathogenicityrs374618962RCV001147074|RCV001147075|RCV001147076; NHuman Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype On45552426055524260CT4:g.55524260C>T-
NM_000222.3(KIT):c.67+19C>T3815KITUncertain significance-1RCV001923266; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045552426755524267CT55524267-
NM_000222.3(KIT):c.68-21_68-19del3815KITLikely benign-1RCV002170341; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556165655561658CACGC55561655-
NM_000222.3(KIT):c.68-20G>A3815KITLikely benign-1RCV002160123; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556165855561658GA55561658-
NM_000222.3(KIT):c.68-19A>G3815KITLikely benign-1RCV002167502; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556165955561659AG55561659-
NM_000222.3(KIT):c.68-19A>T3815KITLikely benign-1RCV002105820; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556165955561659AT55561659-
NM_000222.3(KIT):c.68-18T>C3815KITLikely benign-1RCV002162872; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166055561660TC55561660-
NM_000222.3(KIT):c.68-17T>A3815KITLikely benign-1RCV002140369; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166155561661TA55561661-
NM_000222.3(KIT):c.68-15T>G3815KITLikely benign-1RCV002220988; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166355561663TG55561663-
NM_000222.3(KIT):c.68-15T>C3815KITLikely benign-1RCV002206526; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166355561663TC55561663-
NC_000004.11:g.(?_55561668)_(55604733_?)dup3815KITUncertain significance-1RCV000812684; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166855604733nana-
NM_000222.3(KIT):c.68-10T>G3815KITLikely benign-1RCV001485936; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166855561668TG55561668-
NC_000004.11:g.(?_55561668)_(55604723_?)dup3815KITUncertain significance-1RCV001908010; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166855604723nana-1-
NM_000222.3(KIT):c.68-10T>C3815KITLikely benign-1RCV002183079; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556166855561668TC55561668-
NM_000222.3(KIT):c.68-8C>G3815KITUncertain significancers776271778RCV000704269; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556167055561670CGNC_000004.11:g.55561670C>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.68-8C>T3815KITLikely benignrs776271778RCV000976375|RCV001456057; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556167055561670CT4:g.55561670C>T-
NM_000222.3(KIT):c.68-4G>T3815KITLikely benign-1RCV002098153; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556167455561674GT55561674-
NM_000222.3(KIT):c.68-3C>T3815KITUncertain significance-1RCV001936566; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556167555561675CT55561675-
NM_000222.3(KIT):c.69C>T (p.Gly23=)3815KITLikely benignrs1060502541RCV000462451; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556167955561679CTNC_000004.11:g.55561679C>TClinGen:CA16611507C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.70T>C (p.Ser24Pro)3815KITUncertain significancers1719995693RCV001320416; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556168055561680TC55561680-
NM_000222.3(KIT):c.71C>G (p.Ser24Cys)3815KITUncertain significancers1577952322RCV000822651; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556168155561681CG4:g.55561681C>G-
NM_000222.3(KIT):c.72T>G (p.Ser24=)3815KITLikely benignrs1577952329RCV000980589|RCV001476527; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556168255561682TG4:g.55561682T>G-
NM_000222.3(KIT):c.76C>G (p.Gln26Glu)3815KITUncertain significancers759129060RCV001036232; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556168655561686CG4:g.55561686C>G-
NM_000222.3(KIT):c.77A>G (p.Gln26Arg)3815KITUncertain significancers1560393066RCV000703052; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556168755561687AG4:g.55561687A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.78A>C (p.Gln26His)3815KITUncertain significancers764782713RCV001063511|RCV001147077|RCV001147078; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Human Phenotype Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080045556168855561688AC4:g.55561688A>C-
NM_000222.3(KIT):c.79C>T (p.Pro27Ser)3815KITUncertain significancers1553887242RCV000558903; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556168955561689CTNC_000004.11:g.55561689C>TClinGen:CA356896803C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.80C>T (p.Pro27Leu)3815KITUncertain significancers1307431391RCV000792200; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556169055561690CT4:g.55561690C>T-
NM_000222.3(KIT):c.81A>T (p.Pro27=)3815KITLikely benign-1RCV001465922; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556169155561691AT55561691-
NM_000222.3(KIT):c.82T>C (p.Ser28Pro)3815KITUncertain significancers1330171716RCV001057161; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556169255561692TC4:g.55561692T>C-
NM_000222.3(KIT):c.84T>C (p.Ser28=)3815KITLikely benignrs758868843RCV000530413|RCV001017924; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556169455561694TC4:g.55561694T>CClinGen:CA2923154C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.86T>A (p.Val29Glu)3815KITUncertain significancers864622699RCV000204661; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556169655561696TANC_000004.11:g.55561696T>AClinGen:CA348866C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.86T>C (p.Val29Ala)3815KITUncertain significance-1RCV001942420; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556169655561696TC55561696-
NM_000222.3(KIT):c.89G>T (p.Ser30Ile)3815KITUncertain significancers926559231RCV000697580; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556169955561699GTNC_000004.11:g.55561699G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.90T>A (p.Ser30Arg)3815KITUncertain significance-1RCV001955217; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556170055561700TA55561700-
NM_000222.3(KIT):c.91C>A (p.Pro31Thr)3815KITUncertain significancers1431394530RCV000556799; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556170155561701CA4:g.55561701C>AClinGen:CA356896824C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.91C>G (p.Pro31Ala)3815KITUncertain significancers1431394530RCV000796723; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556170155561701CG4:g.55561701C>G-
NM_000222.3(KIT):c.95G>A (p.Gly32Glu)3815KITUncertain significancers1719999027RCV001326361; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556170555561705GA55561705-
NM_000222.3(KIT):c.96G>A (p.Gly32=)3815KITLikely benignrs1577952444RCV000931441|RCV001430602; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556170655561706GA4:g.55561706G>A-
NM_000222.3(KIT):c.97G>A (p.Glu33Lys)3815KITUncertain significancers1553887257RCV000633760; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556170755561707GA4:g.55561707G>AClinGen:CA356896836C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.101C>A (p.Pro34Gln)3815KITUncertain significancers55755457RCV000121319|RCV001303956; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556171155561711CA4:g.55561711C>AClinGen:CA160365CN169374 not specified;
NM_000222.3(KIT):c.101C>T (p.Pro34Leu)3815KITConflicting interpretations of pathogenicityrs55755457RCV000459377|RCV001009720|RCV001198851; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0005447,MedGen:C015359445556171155561711CTNC_000004.11:g.55561711C>TClinGen:CA2923156C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.102G>A (p.Pro34=)3815KITLikely benignrs757725466RCV000234158; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556171255561712GA4:g.55561712G>AClinGen:CA2923157C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.106C>T (p.Pro36Ser)3815KITUncertain significancers781633384RCV000633807; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556171655561716CTNC_000004.11:g.55561716C>TClinGen:CA2923158C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.106C>A (p.Pro36Thr)3815KITUncertain significancers781633384RCV001301325; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556171655561716CA55561716-
NM_000222.3(KIT):c.108_109insT (p.Pro37fs)3815KITPathogenicrs1553887262RCV000544616; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556171855561719AAT4:g.55561718_55561719insTClinGen:CA658655845C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.120_123dup (p.Gly42fs)3815KITPathogenic-1RCV001806546|RCV001885249; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556171855561719AACCAT55561718-
NM_000222.3(KIT):c.112T>A (p.Ser38Thr)3815KITUncertain significance-1RCV002045037; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556172255561722TA55561722-
NM_000222.3(KIT):c.115A>G (p.Ile39Val)3815KITUncertain significancers1298190443RCV001318034; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556172555561725AG55561725-
NM_000222.3(KIT):c.119A>G (p.His40Arg)3815KITUncertain significancers373374682RCV001238035; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556172955561729AG4:g.55561729A>G-
NM_000222.3(KIT):c.122C>T (p.Pro41Leu)3815KITUncertain significance-1RCV001893255; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556173255561732CT55561732-
NM_000222.3(KIT):c.123A>T (p.Pro41=)3815KITBenign/Likely benignrs72549300RCV000203968|RCV001010502|RCV001147079|RCV001147967; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45556173355561733ATNC_000004.11:g.55561733A>TClinGen:CA348253C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.123A>G (p.Pro41=)3815KITLikely benignrs72549300RCV000633865; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556173355561733AG4:g.55561733A>GClinGen:CA439408971C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.125G>A (p.Gly42Glu)3815KITUncertain significancers746856550RCV000633768; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556173555561735GA4:g.55561735G>AClinGen:CA356896891C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.127A>G (p.Lys43Glu)3815KITUncertain significancers770727656RCV000814006; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556173755561737AG4:g.55561737A>G-
NM_000222.3(KIT):c.132A>T (p.Ser44=)3815KITLikely benign-1RCV001421703; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556174255561742AT55561742-
NM_000222.3(KIT):c.133G>A (p.Asp45Asn)3815KITUncertain significancers1560393232RCV000697963; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556174355561743GANC_000004.11:g.55561743G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.135C>A (p.Asp45Glu)3815KITUncertain significancers1060502551RCV000471093; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556174555561745CANC_000004.11:g.55561745C>AClinGen:CA16611512C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.140T>C (p.Ile47Thr)3815KITUncertain significancers776395578RCV000809607; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175055561750TC4:g.55561750T>C-
NM_000222.3(KIT):c.144C>T (p.Val48=)3815KITLikely benignrs1328080691RCV000940867|RCV001459612; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175455561754CT4:g.55561754C>T-
NM_000222.3(KIT):c.145C>T (p.Arg49Cys)3815KITUncertain significancers759250095RCV001240294; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175555561755CT4:g.55561755C>T-
NM_000222.3(KIT):c.146G>A (p.Arg49His)3815KITUncertain significancers376469897RCV000537272; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175655561756GA4:g.55561756G>AClinGen:CA2923168C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.146G>C (p.Arg49Pro)3815KITUncertain significancers376469897RCV000689320; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175655561756GCNC_000004.11:g.55561756G>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.147C>T (p.Arg49=)3815KITLikely benignrs72549301RCV000474248|RCV001011798; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556175755561757CTNC_000004.11:g.55561757C>TClinGen:CA2923170C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.147C>G (p.Arg49=)3815KITLikely benignrs72549301RCV000983635; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175755561757CG4:g.55561757C>G-
NM_000222.3(KIT):c.147C>A (p.Arg49=)3815KITLikely benign-1RCV001448704; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175755561757CA55561757-
NM_000222.3(KIT):c.148G>T (p.Val50Leu)3815KITUncertain significancers200950545RCV000471765|RCV001011866|RCV001147968|RCV001147969; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Huma45556175855561758GTNC_000004.11:g.55561758G>TClinGen:CA2923171C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.148G>A (p.Val50Met)3815KITUncertain significancers200950545RCV000544811; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175855561758GA4:g.55561758G>AClinGen:CA2923172C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.148G>C (p.Val50Leu)3815KITUncertain significancers200950545RCV001239274; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556175855561758GC4:g.55561758G>C-
NM_000222.3(KIT):c.151G>A (p.Gly51Ser)3815KITUncertain significancers1720006705RCV001237684; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556176155561761GA4:g.55561761G>A-
NM_000222.3(KIT):c.152G>A (p.Gly51Asp)3815KITUncertain significance-1RCV001931803; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556176255561762GA55561762-
NM_000222.3(KIT):c.153C>T (p.Gly51=)3815KITLikely benignrs147363921RCV000538076|RCV001011993; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556176355561763CT4:g.55561763C>TClinGen:CA2923173C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.154G>A (p.Asp52Asn)3815KITConflicting interpretations of pathogenicityrs121913505RCV000422536|RCV000456243|RCV001012079; NHuman 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:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:60676445556176455561764GA4:g.55561764G>AClinGen:CA2923175C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.156C>T (p.Asp52=)3815KITLikely benignrs942280887RCV000633893; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556176655561766CTNC_000004.11:g.55561766C>TClinGen:CA96845639C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.157G>A (p.Glu53Lys)3815KITUncertain significancers780349712RCV001034729; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556176755561767GA4:g.55561767G>A-
NM_000222.3(KIT):c.159G>C (p.Glu53Asp)3815KITUncertain significancers749431345RCV000534305|RCV001012300; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556176955561769GC4:g.55561769G>CClinGen:CA2923178C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.159G>T (p.Glu53Asp)3815KITUncertain significancers749431345RCV001222247; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556176955561769GT4:g.55561769G>T-
NM_000222.3(KIT):c.160A>G (p.Ile54Val)3815KITUncertain significancers1560393393RCV000686046; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556177055561770AGNC_000004.11:g.55561770A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.162T>G (p.Ile54Met)3815KITUncertain significance-1RCV001870890; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556177255561772TG55561772-
NM_000222.3(KIT):c.164G>A (p.Arg55Lys)3815KITUncertain significancers1720008828RCV001045648; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556177455561774GA4:g.55561774G>A-
NM_000222.3(KIT):c.166C>T (p.Leu56=)3815KITLikely benignrs1060504651RCV000458375|RCV001414795; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556177655561776CTNC_000004.11:g.55561776C>TClinGen:CA16611574C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.168G>C (p.Leu56=)3815KITLikely benign-1RCV001491493; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556177855561778GC55561778-
NM_000222.3(KIT):c.168G>A (p.Leu56=)3815KITLikely benign-1RCV002164378; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556177855561778GA55561778-
NM_000222.3(KIT):c.171A>G (p.Leu57=)3815KITLikely benign-1RCV001413816; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556178155561781AG55561781-
NM_000222.3(KIT):c.174C>T (p.Cys58=)3815KITLikely benign-1RCV002207070; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556178455561784CT55561784-
NM_000222.3(KIT):c.175A>G (p.Thr59Ala)3815KITUncertain significancers747004948RCV001248560; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556178555561785AG4:g.55561785A>G-
NM_000222.3(KIT):c.177T>C (p.Thr59=)3815KITLikely benignrs1553887306RCV000559293; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556178755561787TC4:g.55561787T>CClinGen:CA439409054C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.181C>T (p.Pro61Ser)3815KITUncertain significancers1720010283RCV001048663; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556179155561791CT4:g.55561791C>T-
NM_000222.3(KIT):c.182C>T (p.Pro61Leu)3815KITUncertain significancers557317141RCV000465406|RCV001013340; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556179255561792CTNC_000004.11:g.55561792C>TClinGen:CA2923182C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.183G>A (p.Pro61=)3815KITUncertain significancers745640513RCV000806913; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556179355561793GA4:g.55561793G>A-
NM_000222.3(KIT):c.183G>C (p.Pro61=)3815KITLikely benign-1RCV001465460; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556179355561793GC55561793-
NM_000222.3(KIT):c.185G>A (p.Gly62Asp)3815KITUncertain significancers1720011052RCV001052498; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556179555561795GA4:g.55561795G>A-
NM_000222.3(KIT):c.188T>C (p.Phe63Ser)3815KITUncertain significance-1RCV002032339; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556179855561798TC55561798-
NM_000222.3(KIT):c.192C>G (p.Val64=)3815KITLikely benign-1RCV002081176; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556180255561802CG55561802-
NM_000222.3(KIT):c.193A>G (p.Lys65Glu)3815KITUncertain significancers1407600939RCV000700293; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556180355561803AGNC_000004.11:g.55561803A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.194A>T (p.Lys65Ile)3815KITUncertain significancers1560393475RCV001222773; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556180455561804AT4:g.55561804A>T-
NM_000222.3(KIT):c.194A>G (p.Lys65Arg)3815KITUncertain significance-1RCV001877877; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556180455561804AG55561804-
NM_000222.3(KIT):c.195A>G (p.Lys65=)3815KITLikely benignrs200121443RCV000463427; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556180555561805AGNC_000004.11:g.55561805A>GClinGen:CA2923185C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.199A>G (p.Thr67Ala)3815KITUncertain significance-1RCV001993967; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556180955561809AG55561809-
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)3815KITConflicting interpretations of pathogenicityrs144933028RCV000234428|RCV000282556|RCV000332028|RCV000503289|RCV000764541|RCV001014023|RCV001535624|RCV001753684; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Human Phenotype On45556181055561810CGNC_000004.11:g.55561810C>GClinGen:CA2923187C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.203T>C (p.Phe68Ser)3815KITUncertain significance-1RCV001372555; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556181355561813TC55561813-
NM_000222.3(KIT):c.208A>T (p.Ile70Phe)3815KITUncertain significancers1577952856RCV000810823; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556181855561818AT4:g.55561818A>T-
NM_000222.3(KIT):c.210C>T (p.Ile70=)3815KITLikely benignrs866645500RCV000927007|RCV001411765; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556182055561820CT4:g.55561820C>T-
NM_000222.3(KIT):c.211C>T (p.Leu71=)3815KITLikely benign-1RCV002153004; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556182155561821CT55561821-
NM_000222.3(KIT):c.214G>T (p.Asp72Tyr)3815KITUncertain significancers1210962059RCV001214614; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556182455561824GT4:g.55561824G>T-
NM_000222.3(KIT):c.221C>T (p.Thr74Met)3815KITUncertain significancers147943899RCV000633764; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556183155561831CT4:g.55561831C>TClinGen:CA2923189C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.222G>A (p.Thr74=)3815KITLikely benignrs762453840RCV000469247; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556183255561832GANC_000004.11:g.55561832G>AClinGen:CA2923190C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.230A>G (p.Asn77Ser)3815KITUncertain significancers371353189RCV000633733; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556184055561840AG4:g.55561840A>GClinGen:CA2923191C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.231T>C (p.Asn77=)3815KITLikely benign-1RCV002217708; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556184155561841TC55561841-
NM_000222.3(KIT):c.233A>G (p.Lys78Arg)3815KITUncertain significancers1720015087RCV001050169; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556184355561843AG4:g.55561843A>G-
NM_000222.3(KIT):c.234G>A (p.Lys78=)3815KITLikely benign-1RCV001439789; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556184455561844GA55561844-
NM_000222.3(KIT):c.237G>T (p.Gln79His)3815KITUncertain significancers1720015461RCV001039807; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556184755561847GT4:g.55561847G>T-
NM_000222.3(KIT):c.239A>G (p.Asn80Ser)3815KITUncertain significancers1268194684RCV000701498; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556184955561849AG4:g.55561849A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.240T>A (p.Asn80Lys)3815KITUncertain significancers1553887329RCV000548771; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556185055561850TANC_000004.11:g.55561850T>AClinGen:CA356897141C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.243A>G (p.Glu81=)3815KITLikely benign-1RCV001415536; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556185355561853AG55561853-
NM_000222.3(KIT):c.249C>A (p.Ile83=)3815KITLikely benign-1RCV002198177; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556185955561859CA55561859-
NM_000222.3(KIT):c.249C>T (p.Ile83=)3815KITLikely benign-1RCV002147942; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556185955561859CT55561859-
NM_000222.3(KIT):c.250A>T (p.Thr84Ser)3815KITUncertain significancers1060502560RCV000464890|RCV001015768; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556186055561860ATNC_000004.11:g.55561860A>TClinGen:CA16611579C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.250A>G (p.Thr84Ala)3815KITUncertain significance-1RCV002038182; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556186055561860AG55561860-
NM_000222.3(KIT):c.251C>T (p.Thr84Met)3815KITBenign/Likely benignrs201872586RCV000233785|RCV000501837|RCV001015830; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556186155561861CTNC_000004.11:g.55561861C>TClinGen:CA2923193C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.251C>A (p.Thr84Lys)3815KITUncertain significancers201872586RCV001327909; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556186155561861CA55561861-
NM_000222.3(KIT):c.252G>T (p.Thr84=)3815KITBenign/Likely benignrs56411694RCV000205017|RCV000251240|RCV000283816|RCV000408377|RCV001015853|RCV001706201; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN169374|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Hu45556186255561862GT4:g.55561862G>TClinGen:CA349187C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.252G>A (p.Thr84=)3815KITConflicting interpretations of pathogenicityrs56411694RCV000458149|RCV001149524|RCV001149525; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Human Phenotype On45556186255561862GANC_000004.11:g.55561862G>AClinGen:CA2923194C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.256A>G (p.Lys86Glu)3815KITUncertain significancers1720017544RCV001314982; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556186655561866AG55561866-
NM_000222.3(KIT):c.261A>G (p.Ala87=)3815KITLikely benign-1RCV002119601; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556187155561871AG55561871-
NM_000222.3(KIT):c.265G>A (p.Ala89Thr)3815KITUncertain significance-1RCV001982389; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556187555561875GA55561875-
NM_000222.3(KIT):c.269C>A (p.Thr90Asn)3815KITUncertain significancers1720018880RCV001237620; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556187955561879CA4:g.55561879C>A-
NM_000222.3(KIT):c.273C>T (p.Asn91=)3815KITLikely benign-1RCV002146968; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556188355561883CT55561883-
NM_000222.3(KIT):c.274A>G (p.Thr92Ala)3815KITUncertain significancers1560393612RCV000706828; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556188455561884AG4:g.55561884A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.274A>T (p.Thr92Ser)3815KITUncertain significancers1560393612RCV001224223; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556188455561884AT4:g.55561884A>T-
NM_000222.3(KIT):c.275C>G (p.Thr92Ser)3815KITUncertain significancers1720019762RCV001322597; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556188555561885CG55561885-
NM_000222.3(KIT):c.276C>T (p.Thr92=)3815KITLikely benign-1RCV001418833; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556188655561886CT55561886-
NM_000222.3(KIT):c.277G>A (p.Gly93Ser)3815KITUncertain significancers1720020252RCV001221241; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556188755561887GA4:g.55561887G>A-
NM_000222.3(KIT):c.281A>G (p.Lys94Arg)3815KITUncertain significancers904550523RCV000465596; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556189155561891AGNC_000004.11:g.55561891A>GClinGen:CA16611517C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.285C>T (p.Tyr95=)3815KITLikely benignrs779113666RCV000874105|RCV001016799; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556189555561895CT4:g.55561895C>T-
NM_000222.3(KIT):c.287C>T (p.Thr96Met)3815KITUncertain significancers1060502564RCV000468787|RCV001016873; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556189755561897CTNC_000004.11:g.55561897C>TClinGen:CA16611580C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.287C>A (p.Thr96Lys)3815KITUncertain significancers1060502564RCV001314739; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556189755561897CA55561897-
NM_000222.3(KIT):c.288G>A (p.Thr96=)3815KITLikely benignrs150026676RCV000459973|RCV001016881; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556189855561898GANC_000004.11:g.55561898G>AClinGen:CA2923197C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.288G>C (p.Thr96=)3815KITLikely benign-1RCV001408324; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556189855561898GC55561898-
NM_000222.3(KIT):c.291C>T (p.Cys97=)3815KITLikely benign-1RCV001394043; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556190155561901CT55561901-
NM_000222.3(KIT):c.292A>T (p.Thr98Ser)3815KITUncertain significancers1060502567RCV000457161; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556190255561902ATNC_000004.11:g.55561902A>TClinGen:CA16611518C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.293C>A (p.Thr98Asn)3815KITUncertain significancers1577953102RCV000793935; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556190355561903CA4:g.55561903C>A-
NM_000222.3(KIT):c.293C>T (p.Thr98Ile)3815KITUncertain significance-1RCV001978635; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556190355561903CT55561903-
NM_000222.3(KIT):c.294C>T (p.Thr98=)3815KITLikely benignrs959320112RCV000535749; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556190455561904CT4:g.55561904C>TClinGen:CA96845840C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.294C>G (p.Thr98=)3815KITLikely benign-1RCV001416945; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556190455561904CG55561904-
NM_000222.3(KIT):c.297C>T (p.Asn99=)3815KITConflicting interpretations of pathogenicityrs768599276RCV000231785|RCV001017756|RCV001762516; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45556190755561907CT4:g.55561907C>TClinGen:CA2923198C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.300A>G (p.Lys100=)3815KITLikely benign-1RCV002148841; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556191055561910AG55561910-
NM_000222.3(KIT):c.302A>G (p.His101Arg)3815KITUncertain significancers1274601103RCV000548226|RCV000764542|RCV001018180; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Human Phenotype Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080045556191255561912AG4:g.55561912A>GClinGen:CA356897283C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.303C>T (p.His101=)3815KITLikely benignrs145333060RCV000633860; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556191355561913CT4:g.55561913C>TClinGen:CA2923200C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.303C>G (p.His101Gln)3815KITUncertain significancers145333060RCV001322117; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556191355561913CG55561913-
NM_000222.3(KIT):c.304G>A (p.Gly102Ser)3815KITUncertain significancers769632130RCV000528217; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556191455561914GA4:g.55561914G>AClinGen:CA2923201C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.310A>G (p.Ser104Gly)3815KITUncertain significancers1060502559RCV000464639; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556192055561920AGNC_000004.11:g.55561920A>GClinGen:CA16611485C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.316T>G (p.Ser106Ala)3815KITUncertain significancers1720024166RCV001223756; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556192655561926TG4:g.55561926T>G-
NM_000222.3(KIT):c.317C>T (p.Ser106Phe)3815KITUncertain significance-1RCV002030472; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556192755561927CT55561927-
NM_000222.3(KIT):c.319A>G (p.Ile107Val)3815KITUncertain significance-1RCV001998095; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556192955561929AG55561929-
NM_000222.3(KIT):c.324T>C (p.Tyr108=)3815KITLikely benignrs1553887353RCV000633909; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556193455561934TCNC_000004.11:g.55561934T>CClinGen:CA439409249C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.325G>A (p.Val109Met)3815KITUncertain significancers1720025321RCV001201456; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556193555561935GA4:g.55561935G>A-
NM_000222.3(KIT):c.330T>C (p.Phe110=)3815KITLikely benign-1RCV001500885; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556194055561940TC55561940-
NM_000222.3(KIT):c.337+1_337+8dup3815KITLikely benign-1RCV001454065; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556194755561948GGGTAAATGC55561947-
NM_000222.3(KIT):c.337+7G>T3815KITLikely benign-1RCV001447012; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556195455561954GT55561954-
NM_000222.3(KIT):c.337+9T>G3815KITLikely benignrs1553887358RCV000633874; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556195655561956TG4:g.55561956T>GClinGen:CA658796439C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.337+10del3815KITLikely benign-1RCV001393598; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556195655561956CTC55561955-
NM_000222.3(KIT):c.337+10T>C3815KITLikely benign-1RCV001473563; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556195755561957TC55561957-
NM_000222.3(KIT):c.337+14_337+15delinsGC3815KITLikely benign-1RCV002198494; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556196155561962TTGC55561961-
NM_000222.3(KIT):c.337+18del3815KITLikely benign-1RCV002180916; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556196555561965CTC55561964-
NM_000222.3(KIT):c.337+19G>A3815KITLikely benign-1RCV002080774; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556196655561966GA55561966-
NM_000222.3(KIT):c.338-19_338-13del3815KITLikely benign-1RCV002180512; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556442855564434TGATTTTGT55564427-
NM_000222.3(KIT):c.338-17T>C3815KITLikely benign-1RCV002202949; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556443355564433TC55564433-
NM_000222.3(KIT):c.338-16G>A3815KITUncertain significance-1RCV002011024; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556443455564434GA55564434-
NM_000222.3(KIT):c.338-14A>G3815KITUncertain significance-1RCV001881301; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556443655564436AG55564436-
NM_000222.3(KIT):c.338-10G>T3815KITLikely benignrs1577956522RCV000980670; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444055564440GT4:g.55564440G>T-
NM_000222.3(KIT):c.338-8T>A3815KITUncertain significancers1720215706RCV001042841; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444255564442TA4:g.55564442T>A-
NM_000222.3(KIT):c.338-6dup3815KITUncertain significance-1RCV002008829; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444355564444TTC55564443-
NM_000222.3(KIT):c.338-6C>T3815KITLikely benign-1RCV001436893; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444455564444CT55564444-
NM_000222.3(KIT):c.338-6C>G3815KITUncertain significance-1RCV001944766; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444455564444CG55564444-
NM_000222.3(KIT):c.338-5T>G3815KITUncertain significance-1RCV001372423; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444555564445TG55564445-
NM_000222.3(KIT):c.338-4A>T3815KITLikely benignrs878853766RCV000226678; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444655564446AT4:g.55564446A>TClinGen:CA10582250C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.338-4A>G3815KITLikely benignrs878853766RCV000540669; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444655564446AG4:g.55564446A>GClinGen:CA551651611C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.338-3T>C3815KITUncertain significancers1577956540RCV000793986; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556444755564447TC4:g.55564447T>C-
NM_000222.3(KIT):c.340C>G (p.Pro114Ala)3815KITUncertain significancers772836939RCV000553135; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556445255564452CG4:g.55564452C>GClinGen:CA96847748C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.340C>A (p.Pro114Thr)3815KITUncertain significancers772836939RCV001340509; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556445255564452CA55564452-
NM_000222.3(KIT):c.343G>A (p.Ala115Thr)3815KITUncertain significancers1560395513RCV000686976; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556445555564455GANC_000004.11:g.55564455G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.344C>T (p.Ala115Val)3815KITUncertain significancers1577956572RCV000802895; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556445655564456CT4:g.55564456C>T-
NM_000222.3(KIT):c.345C>T (p.Ala115=)3815KITLikely benign-1RCV001498519; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556445755564457CT55564457-
NM_000222.3(KIT):c.348G>T (p.Lys116Asn)3815KITUncertain significance-1RCV001878549; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556446055564460GT55564460-
NM_000222.3(KIT):c.349C>A (p.Leu117Ile)3815KITUncertain significancers189660852RCV000473138; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556446155564461CANC_000004.11:g.55564461C>AClinGen:CA2923229C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.354C>T (p.Phe118=)3815KITLikely benignrs1352598333RCV000940869; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556446655564466CT4:g.55564466C>T-
NM_000222.3(KIT):c.355C>G (p.Leu119Val)3815KITUncertain significancers1553887690RCV000524580; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556446755564467CG4:g.55564467C>GClinGen:CA356897409C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.362A>T (p.Asp121Val)3815KITUncertain significance-1RCV002003032; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556447455564474AT55564474-
NM_000222.3(KIT):c.363C>T (p.Asp121=)3815KITLikely benignrs1553887693RCV000633880; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556447555564475CTNC_000004.11:g.55564475C>TClinGen:CA439408862C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.364del (p.Arg122fs)3815KITPathogenic-1RCV001903587; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556447555564475ACA55564474-
NM_000222.3(KIT):c.365G>A (p.Arg122His)3815KITUncertain significance-1RCV001910975; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556447755564477GA55564477-
NM_000222.3(KIT):c.366_369del (p.Ser123fs)3815KITPathogenic-1RCV001999796; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556447855564481GCTCCG55564477-
NM_000222.3(KIT):c.368C>T (p.Ser123Phe)3815KITUncertain significancers371303702RCV000467961; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556448055564480CTNC_000004.11:g.55564480C>TClinGen:CA2923231C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.369C>T (p.Ser123=)3815KITLikely benign-1RCV001395334; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556448155564481CT55564481-
NM_000222.3(KIT):c.372G>A (p.Leu124=)3815KITBenignrs775690281RCV000466471; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556448455564484GANC_000004.11:g.55564484G>AClinGen:CA2923232C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.385G>C (p.Asp129His)3815KITUncertain significancers1720220156RCV001347655; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556449755564497GC55564497-
NM_000222.3(KIT):c.386A>G (p.Asp129Gly)3815KITUncertain significancers948408318RCV001324504; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556449855564498AG55564498-
NM_000222.3(KIT):c.387C>G (p.Asp129Glu)3815KITUncertain significancers763100661RCV001226355; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556449955564499CG4:g.55564499C>G-
NM_000222.3(KIT):c.388A>G (p.Asn130Asp)3815KITUncertain significancers764213036RCV000542136|RCV001021361; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556450055564500AG4:g.55564500A>GClinGen:CA2923234C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.389del (p.Asn130fs)3815KITPathogenicrs1560395607RCV000689579; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450055564500CACNC_000004.11:g.55564501del-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.390C>T (p.Asn130=)3815KITLikely benignrs575926270RCV000633936; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450255564502CTNC_000004.11:g.55564502C>TClinGen:CA2923235C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.390C>G (p.Asn130Lys)3815KITUncertain significance-1RCV001930353; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450255564502CG55564502-
NM_000222.3(KIT):c.391G>A (p.Asp131Asn)3815KITUncertain significancers1044091916RCV000471351|RCV001021437; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556450355564503GANC_000004.11:g.55564503G>AClinGen:CA16611486C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.393C>T (p.Asp131=)3815KITLikely benignrs1208138500RCV000633852|RCV001451170; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450555564505CT4:g.55564505C>TClinGen:CA439408897C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.394A>G (p.Thr132Ala)3815KITUncertain significance-1RCV001361502; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450655564506AG55564506-
NM_000222.3(KIT):c.395C>T (p.Thr132Met)3815KITUncertain significancers766253584RCV000633796; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450755564507CT4:g.55564507C>TClinGen:CA2923237C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.396G>T (p.Thr132=)3815KITLikely benignrs149172424RCV000229606; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450855564508GT4:g.55564508G>TClinGen:CA10582251C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.396G>A (p.Thr132=)3815KITLikely benignrs149172424RCV000554595; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450855564508GA4:g.55564508G>AClinGen:CA2923238C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.397C>G (p.Leu133Val)3815KITUncertain significancers1060502542RCV000466315; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556450955564509CGNC_000004.11:g.55564509C>GClinGen:CA16611529C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.402C>T (p.Val134=)3815KITLikely benign-1RCV002135354; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556451455564514CT55564514-
NM_000222.3(KIT):c.403C>T (p.Arg135Cys)3815KITUncertain significancers754738766RCV000693967; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556451555564515CT4:g.55564515C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.404G>A (p.Arg135His)3815KITUncertain significancers1174814949RCV000791908; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556451655564516GA4:g.55564516G>A-
NM_000222.3(KIT):c.406T>C (p.Cys136Arg)3815KITConflicting interpretations of pathogenicityrs1720223149RCV001307962|RCV001786471; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN51720245556451855564518TC55564518-
NM_000222.3(KIT):c.414C>T (p.Leu138=)3815KITLikely benign-1RCV002211437; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556452655564526CT55564526-
NM_000222.3(KIT):c.424G>C (p.Glu142Gln)3815KITUncertain significance-1RCV001889847; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556453655564536GC55564536-
NM_000222.3(KIT):c.425A>C (p.Glu142Ala)3815KITUncertain significancers1553887714RCV000530638; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556453755564537AC4:g.55564537A>CClinGen:CA356897558C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.426A>G (p.Glu142=)3815KITLikely benign-1RCV001410463; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556453855564538AG55564538-
NM_000222.3(KIT):c.430A>G (p.Thr144Ala)3815KITUncertain significancers758120380RCV000543092; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556454255564542AG4:g.55564542A>GClinGen:CA2923242C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.430A>T (p.Thr144Ser)3815KITUncertain significancers758120380RCV000799794; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556454255564542AT4:g.55564542A>T-
NM_000222.3(KIT):c.431C>T (p.Thr144Ile)3815KITUncertain significance-1RCV001367157; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556454355564543CT55564543-
NM_000222.3(KIT):c.432C>T (p.Thr144=)3815KITLikely benign-1RCV001422227; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556454455564544CT55564544-
NM_000222.3(KIT):c.434A>G (p.Asn145Ser)3815KITUncertain significancers1003144287RCV000465370; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556454655564546AGNC_000004.11:g.55564546A>GClinGen:CA16611530C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.434A>C (p.Asn145Thr)3815KITUncertain significance-1RCV002020200; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556454655564546AC55564546-
NM_000222.3(KIT):c.441C>T (p.Ser147=)3815KITLikely benign-1RCV001452120; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556455355564553CT55564553-
NM_000222.3(KIT):c.443T>C (p.Leu148Pro)3815KITUncertain significancers1720225274RCV001232162; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556455555564555TC4:g.55564555T>C-
NM_000222.3(KIT):c.444C>T (p.Leu148=)3815KITLikely benignrs544555667RCV000878843; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556455655564556CT4:g.55564556C>T-
NM_000222.3(KIT):c.444C>G (p.Leu148=)3815KITLikely benignrs544555667RCV000921509|RCV001451639; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556455655564556CG4:g.55564556C>G-
NM_000222.3(KIT):c.446A>G (p.Lys149Arg)3815KITUncertain significancers1237279460RCV000633849; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556455855564558AG4:g.55564558A>GClinGen:CA356897604C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.450G>A (p.Gly150=)3815KITLikely benign-1RCV001391700; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556456255564562GA55564562-
NM_000222.3(KIT):c.454C>G (p.Gln152Glu)3815KITUncertain significancers145053429RCV001067916; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556456655564566CG4:g.55564566C>G-
NM_000222.3(KIT):c.455A>G (p.Gln152Arg)3815KITUncertain significancers1720226498RCV001296321; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556456755564567AG55564567-
NM_000222.3(KIT):c.458G>A (p.Gly153Glu)3815KITUncertain significancers1720226841RCV001236701; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556457055564570GA4:g.55564570G>A-
NM_000222.3(KIT):c.463C>T (p.Pro155Ser)3815KITUncertain significancers777031731RCV000232388; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556457555564575CTNC_000004.11:g.55564575C>TClinGen:CA2923246C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.464C>T (p.Pro155Leu)3815KITConflicting interpretations of pathogenicityrs367719489RCV000210894|RCV000456468|RCV001022842|RCV001145219|RCV001145220; NMedGen:C2674636|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology45556457655564576CT4:g.55564576C>TClinGen:CA358329C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.466C>A (p.Leu156Ile)3815KITUncertain significancers878853767RCV000226299; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556457855564578CA4:g.55564578C>AClinGen:CA10582252C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.466C>T (p.Leu156Phe)3815KITUncertain significancers878853767RCV001050059; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556457855564578CT4:g.55564578C>T-
NM_000222.3(KIT):c.469C>G (p.Pro157Ala)3815KITUncertain significancers1276125047RCV000818552; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556458155564581CG4:g.55564581C>G-
NM_000222.3(KIT):c.472A>G (p.Lys158Glu)3815KITUncertain significance-1RCV001899707; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556458455564584AG55564584-
NM_000222.3(KIT):c.473A>T (p.Lys158Met)3815KITUncertain significancers775817289RCV000704258; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556458555564585AT4:g.55564585A>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.473A>G (p.Lys158Arg)3815KITUncertain significance-1RCV001931067; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556458555564585AG55564585-
NM_000222.3(KIT):c.475G>C (p.Asp159His)3815KITUncertain significancers1720228389RCV001326091; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556458755564587GC55564587-
NM_000222.3(KIT):c.478T>A (p.Leu160Met)3815KITUncertain significancers763226471RCV001053174; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556459055564590TA4:g.55564590T>A-
NM_000222.3(KIT):c.480G>C (p.Leu160Phe)3815KITUncertain significancers1201516128RCV000554951; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556459255564592GCNC_000004.11:g.55564592G>CClinGen:CA356897675C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.481A>C (p.Arg161=)3815KITLikely benignrs1577956931RCV000940264; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556459355564593AC4:g.55564593A>C-
NM_000222.3(KIT):c.482G>A (p.Arg161Lys)3815KITUncertain significancers764280416RCV000633758; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556459455564594GA4:g.55564594G>AClinGen:CA2923250C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.483G>A (p.Arg161=)3815KITLikely benign-1RCV002209276; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556459555564595GA55564595-
NM_000222.3(KIT):c.484T>G (p.Phe162Val)3815KITUncertain significancers201222895RCV000034507|RCV001852696; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556459655564596TG4:g.55564596T>GClinGen:CA215593CN517202 not provided;
NM_000222.3(KIT):c.484T>C (p.Phe162Leu)3815KITUncertain significancers201222895RCV001212231; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556459655564596TC4:g.55564596T>C-
NM_000222.3(KIT):c.488T>G (p.Ile163Ser)3815KITUncertain significance-1RCV002038709; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556460055564600TG55564600-
NM_000222.3(KIT):c.491C>A (p.Pro164His)3815KITUncertain significancers1720230009RCV001247168; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556460355564603CA4:g.55564603C>A-
NM_000222.3(KIT):c.492T>C (p.Pro164=)3815KITLikely benign-1RCV002187082; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556460455564604TC55564604-
NM_000222.3(KIT):c.493G>C (p.Asp165His)3815KITUncertain significancers1280787320RCV001039567; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556460555564605GC4:g.55564605G>C-
NM_000222.3(KIT):c.495C>T (p.Asp165=)3815KITLikely benign-1RCV002110715; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556460755564607CT55564607-
NM_000222.3(KIT):c.497C>T (p.Pro166Leu)3815KITUncertain significancers1720230405RCV001246550; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556460955564609CT4:g.55564609C>T-
NM_000222.3(KIT):c.498C>G (p.Pro166=)3815KITLikely benignrs761831851RCV000980917; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556461055564610CG4:g.55564610C>G-
NM_000222.3(KIT):c.498C>T (p.Pro166=)3815KITLikely benign-1RCV002076257; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556461055564610CT55564610-
NM_000222.3(KIT):c.500A>G (p.Lys167Arg)3815KITUncertain significancers1720230800RCV001308862; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556461255564612AG55564612-
NM_000222.3(KIT):c.501G>A (p.Lys167=)3815KITLikely benignrs767567085RCV000530977; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556461355564613GA4:g.55564613G>AClinGen:CA2923253C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.502G>A (p.Ala168Thr)3815KITUncertain significancers200851152RCV000697358; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556461455564614GA4:g.55564614G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.503C>T (p.Ala168Val)3815KITLikely benignrs149092990RCV000121321|RCV000466526|RCV001023457; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556461555564615CT4:g.55564615C>TClinGen:CA160371C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.503C>A (p.Ala168Glu)3815KITUncertain significancers149092990RCV001338795; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556461555564615CA55564615-
NM_000222.3(KIT):c.504G>A (p.Ala168=)3815KITLikely benignrs140469176RCV000230203|RCV001023475|RCV001818567; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN16937445556461655564616GANC_000004.11:g.55564616G>AClinGen:CA2923255C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.504G>C (p.Ala168=)3815KITLikely benign-1RCV001427322; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556461655564616GC55564616-
NM_000222.3(KIT):c.508A>G (p.Ile170Val)3815KITUncertain significancers1394659716RCV000698787; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556462055564620AG4:g.55564620A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.512T>C (p.Met171Thr)3815KITUncertain significancers752511532RCV001318259; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556462455564624TC55564624-
NM_000222.3(KIT):c.516C>T (p.Ile172=)3815KITLikely benignrs1060504656RCV000463700; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556462855564628CTNC_000004.11:g.55564628C>TClinGen:CA16611487C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.517A>C (p.Lys173Gln)3815KITUncertain significancers1720232627RCV001295288; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556462955564629AC55564629-
NM_000222.3(KIT):c.521G>C (p.Ser174Thr)3815KITUncertain significancers758171174RCV000560870; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556463355564633GC4:g.55564633G>CClinGen:CA2923257C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.522T>C (p.Ser174=)3815KITLikely benignrs145993517RCV000536919; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556463455564634TCNC_000004.11:g.55564634T>CClinGen:CA2923258C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.523G>A (p.Val175Met)3815KITUncertain significance-1RCV002038000; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556463555564635GA55564635-
NM_000222.3(KIT):c.527A>G (p.Lys176Arg)3815KITUncertain significance-1RCV001987505; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556463955564639AG55564639-
NM_000222.3(KIT):c.528A>G (p.Lys176=)3815KITLikely benignrs532461931RCV000903871; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556464055564640AG4:g.55564640A>G-
NM_000222.3(KIT):c.531C>T (p.Arg177=)3815KITLikely benignrs756722358RCV000467825; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556464355564643CTNC_000004.11:g.55564643C>TClinGen:CA2923260C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.532G>T (p.Ala178Ser)3815KITUncertain significance-1RCV001901304; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556464455564644GT55564644-
NM_000222.3(KIT):c.533C>T (p.Ala178Val)3815KITUncertain significance-1RCV002046637; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556464555564645CT55564645-
NM_000222.3(KIT):c.542G>A (p.Arg181Gln)3815KITUncertain significancers1720234301RCV001213357; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556465455564654GA4:g.55564654G>A-
NM_000222.3(KIT):c.543G>C (p.Arg181=)3815KITLikely benignrs746419269RCV000473082|RCV001024111; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556465555564655GCNC_000004.11:g.55564655G>CClinGen:CA2923261C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.544C>G (p.Leu182Val)3815KITUncertain significancers1720234665RCV001348263; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556465655564656CG55564656-
NM_000222.3(KIT):c.546C>T (p.Leu182=)3815KITLikely benignrs1577957110RCV000925919|RCV001482377; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556465855564658CT4:g.55564658C>T-
NM_000222.3(KIT):c.549T>C (p.Cys183=)3815KITLikely benignrs1553887762RCV000557260; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556466155564661TC4:g.55564661T>CClinGen:CA439409321C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.550C>A (p.Leu184Met)3815KITUncertain significancers1577957143RCV000822470; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556466255564662CA4:g.55564662C>A-
NM_000222.3(KIT):c.554A>G (p.His185Arg)3815KITUncertain significance-1RCV001878440; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556466655564666AG55564666-
NM_000222.3(KIT):c.555T>C (p.His185=)3815KITLikely benignrs1227095960RCV000537249; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556466755564667TC4:g.55564667T>CClinGen:CA439409333C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.555T>G (p.His185Gln)3815KITUncertain significancers1227095960RCV001225730; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556466755564667TG4:g.55564667T>G-
NM_000222.3(KIT):c.563T>C (p.Val188Ala)3815KITUncertain significancers1553887765RCV000633730; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556467555564675TCNC_000004.11:g.55564675T>CClinGen:CA356897939C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.567C>A (p.Asp189Glu)3815KITUncertain significancers1720236336RCV001063337; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556467955564679CA4:g.55564679C>A-
NM_000222.3(KIT):c.568C>T (p.Gln190Ter)3815KITPathogenicrs1720236510RCV001221093; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468055564680CT4:g.55564680C>T-
NM_000222.3(KIT):c.569A>G (p.Gln190Arg)3815KITUncertain significancers1060502547RCV000477210; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468155564681AGNC_000004.11:g.55564681A>GClinGen:CA16611531C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.569A>T (p.Gln190Leu)3815KITUncertain significancers1060502547RCV001348154; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468155564681AT55564681-
NM_000222.3(KIT):c.570G>A (p.Gln190=)3815KITLikely benign-1RCV001435437; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468255564682GA55564682-
NM_000222.3(KIT):c.571G>C (p.Glu191Gln)3815KITUncertain significancers1489233873RCV001040028; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468355564683GC4:g.55564683G>C-
NM_000222.3(KIT):c.573G>A (p.Glu191=)3815KITLikely benignrs780434119RCV000893327; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468555564685GA4:g.55564685G>A-
NM_000222.3(KIT):c.575G>A (p.Gly192Asp)3815KITUncertain significancers1268420042RCV000549741; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468755564687GA4:g.55564687G>AClinGen:CA356898005C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.576C>A (p.Gly192=)3815KITLikely benign-1RCV002106565; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468855564688CA55564688-
NM_000222.3(KIT):c.577A>C (p.Lys193Gln)3815KITUncertain significancers1451394869RCV001301185; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556468955564689AC55564689-
NM_000222.3(KIT):c.583G>C (p.Val195Leu)3815KITUncertain significance-1RCV001872760; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556469555564695GC55564695-
NM_000222.3(KIT):c.585G>A (p.Val195=)3815KITLikely benignrs749677454RCV000943163|RCV001464500; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556469755564697GA4:g.55564697G>A-
NM_000222.3(KIT):c.586C>G (p.Leu196Val)3815KITUncertain significancers768971014RCV001237940; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556469855564698CG4:g.55564698C>G-
NM_000222.3(KIT):c.588G>T (p.Leu196=)3815KITLikely benignrs1060504650RCV000463879; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556470055564700GTNC_000004.11:g.55564700G>TClinGen:CA16611586C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.591G>A (p.Ser197=)3815KITLikely benignrs140839561RCV000467255|RCV001024685; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556470355564703GANC_000004.11:g.55564703G>AClinGen:CA2923266C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.591G>T (p.Ser197=)3815KITLikely benignrs140839561RCV000533665; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556470355564703GT4:g.55564703G>TClinGen:CA2923267C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.598T>C (p.Phe200Leu)3815KITUncertain significance-1RCV001904713; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556471055564710TC55564710-
NM_000222.3(KIT):c.600C>T (p.Phe200=)3815KITLikely benignrs772105682RCV000470794; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556471255564712CTNC_000004.11:g.55564712C>TClinGen:CA2923269C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.601A>G (p.Ile201Val)3815KITUncertain significance-1RCV001364884; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556471355564713AG55564713-
NM_000222.3(KIT):c.602T>A (p.Ile201Asn)3815KITUncertain significancers1720239362RCV001210639; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556471455564714TA4:g.55564714T>A-
NM_000222.3(KIT):c.604C>T (p.Leu202=)3815KITLikely benignrs759589436RCV000633891; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556471655564716CT4:g.55564716C>TClinGen:CA2923270C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.606G>T (p.Leu202=)3815KITLikely benignrs1577957274RCV000935550; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556471855564718GT4:g.55564718G>T-
NM_000222.3(KIT):c.615G>A (p.Arg205=)3815KITUncertain significancers1720239935RCV001145221|RCV001145222|RCV001147184; NHuman Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype On45556472755564727GA4:g.55564727G>A-
NM_000222.3(KIT):c.619+4C>A3815KITUncertain significancers1720240123RCV001295773; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556473555564735CA55564735-
NM_000222.3(KIT):c.619+5T>C3815KITUncertain significancers1060502565RCV000470040; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556473655564736TCNC_000004.11:g.55564736T>CClinGen:CA16611588C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.619+7G>C3815KITLikely benignrs965912884RCV000920397; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556473855564738GC4:g.55564738G>C-
NM_000222.3(KIT):c.619+7G>A3815KITLikely benignrs965912884RCV000927824|RCV001454733; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556473855564738GA4:g.55564738G>A-
NM_000222.3(KIT):c.619+10_619+11del3815KITLikely benign-1RCV001483573; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556473955564740GCTG55564738-
NM_000222.3(KIT):c.619+10C>T3815KITLikely benign-1RCV002104505; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556474155564741CT55564741-
NM_000222.3(KIT):c.619+16T>C3815KITLikely benign-1RCV002193433; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556474755564747TC55564747-
NM_000222.3(KIT):c.619+17A>G3815KITLikely benign-1RCV002190457; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556474855564748AG55564748-
NM_000222.3(KIT):c.619+18T>C3815KITLikely benign-1RCV002184590; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556474955564749TC55564749-
NM_000222.3(KIT):c.619+20T>C3815KITLikely benign-1RCV001949255; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556475155564751TC55564751-
NM_000222.3(KIT):c.620-7_620-4dup3815KITLikely benign-1RCV001980094; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556578555565786TTTTCA55565785-
NM_000222.3(KIT):c.620-10T>C3815KITLikely benignrs1362563387RCV000633869; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556578655565786TC4:g.55565786T>CClinGen:CA658796440C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.620-7A>G3815KITLikely benignrs878853768RCV000225893|RCV001497488; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556578955565789AGNC_000004.11:g.55565789A>GClinGen:CA10582253C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.620-4C>G3815KITLikely benignrs773216281RCV000982527|RCV001443193; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556579255565792CG4:g.55565792C>G-
NM_000222.3(KIT):c.620-4C>T3815KITLikely benign-1RCV001479001; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556579255565792CT55565792-
NM_000222.3(KIT):c.621C>T (p.Ala207=)3815KITLikely benign-1RCV001482635; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556579755565797CT55565797-
NM_000222.3(KIT):c.629C>T (p.Ala210Val)3815KITUncertain significancers1456585233RCV001071903; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556580555565805CT4:g.55565805C>T-
NM_000222.3(KIT):c.631G>A (p.Val211Met)3815KITUncertain significancers1290764669RCV001034771; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556580755565807GA4:g.55565807G>A-
NM_000222.3(KIT):c.638T>C (p.Val213Ala)3815KITUncertain significancers878853769RCV000229809; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556581455565814TC4:g.55565814T>CClinGen:CA10582254C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.640G>A (p.Val214Met)3815KITUncertain significancers775569383RCV001051782; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556581655565816GA4:g.55565816G>A-
NM_000222.3(KIT):c.641T>C (p.Val214Ala)3815KITUncertain significancers1720323264RCV001348989; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556581755565817TC55565817-
NM_000222.3(KIT):c.642G>A (p.Val214=)3815KITLikely benign-1RCV002096279; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556581855565818GA55565818-
NM_000222.3(KIT):c.645T>C (p.Ser215=)3815KITLikely benignrs1577958576RCV000933064; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556582155565821TC4:g.55565821T>C-
NM_000222.3(KIT):c.648G>A (p.Val216=)3815KITLikely benignrs1396161786RCV000928705|RCV001499338; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556582455565824GA4:g.55565824G>A-
NM_000222.3(KIT):c.650C>T (p.Ser217Phe)3815KITUncertain significancers1163691210RCV000697830; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556582655565826CTNC_000004.11:g.55565826C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.652A>G (p.Lys218Glu)3815KITUncertain significance-1RCV002022538; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556582855565828AG55565828-
NM_000222.3(KIT):c.655G>A (p.Ala219Thr)3815KITUncertain significance-1RCV001952663; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556583155565831GA55565831-
NM_000222.3(KIT):c.658A>T (p.Ser220Cys)3815KITUncertain significancers1060502549RCV000477317; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556583455565834ATNC_000004.11:g.55565834A>TClinGen:CA16611538C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.658A>G (p.Ser220Gly)3815KITUncertain significance-1RCV001983130; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556583455565834AG55565834-
NM_000222.3(KIT):c.659G>C (p.Ser220Thr)3815KITUncertain significancers1720325262RCV001314574; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556583555565835GC55565835-
NM_000222.3(KIT):c.662A>G (p.Tyr221Cys)3815KITUncertain significancers763853854RCV001307218; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556583855565838AG55565838-
NM_000222.3(KIT):c.673G>A (p.Glu225Lys)3815KITUncertain significancers1330251750RCV001211131; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556584955565849GA4:g.55565849G>A-
NM_000222.3(KIT):c.677G>A (p.Gly226Glu)3815KITUncertain significancers1577958652RCV000810337; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556585355565853GA4:g.55565853G>A-
NM_000222.3(KIT):c.678G>A (p.Gly226=)3815KITLikely benignrs761411033RCV000949457; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556585455565854GA4:g.55565854G>A-
NM_000222.3(KIT):c.678G>C (p.Gly226=)3815KITLikely benign-1RCV001424525; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556585455565854GC55565854-
NM_000222.3(KIT):c.685T>C (p.Phe229Leu)3815KITUncertain significancers1560396887RCV000691519; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556586155565861TCNC_000004.11:g.55565861T>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.687C>T (p.Phe229=)3815KITLikely benign-1RCV001478350; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556586355565863CT55565863-
NM_000222.3(KIT):c.691G>A (p.Val231Met)3815KITUncertain significancers1720329025RCV001224914; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556586755565867GA4:g.55565867G>A-
NM_000222.3(KIT):c.693G>C (p.Val231=)3815KITLikely benignrs552937042RCV000924618; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556586955565869GC4:g.55565869G>C-
NM_000222.3(KIT):c.695C>T (p.Thr232Met)3815KITUncertain significancers767174569RCV000687579; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556587155565871CTNC_000004.11:g.55565871C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.696G>A (p.Thr232=)3815KITLikely benignrs201988161RCV000633888|RCV001025854; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556587255565872GA4:g.55565872G>AClinGen:CA2923296C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.696G>T (p.Thr232=)3815KITLikely benignrs201988161RCV000633927; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556587255565872GTNC_000004.11:g.55565872G>TClinGen:CA439288215C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.696G>C (p.Thr232=)3815KITLikely benignrs201988161RCV001025858|RCV002069025; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556587255565872GC4:g.55565872G>C-
NM_000222.3(KIT):c.699C>T (p.Cys233=)3815KITLikely benignrs1182561091RCV000978104|RCV001405161; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556587555565875CT4:g.55565875C>T-
NM_000222.3(KIT):c.700A>G (p.Thr234Ala)3815KITUncertain significancers1577958731RCV000816299; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556587655565876AG4:g.55565876A>G-
NM_000222.3(KIT):c.702A>G (p.Thr234=)3815KITLikely benignrs1553887939RCV000527247; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556587855565878AG4:g.55565878A>GClinGen:CA439288218C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.707A>C (p.Lys236Thr)3815KITUncertain significancers374957554RCV000697055; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556588355565883ACNC_000004.11:g.55565883A>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.708A>G (p.Lys236=)3815KITLikely benign-1RCV002092625; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556588455565884AG55565884-
NM_000222.3(KIT):c.711T>C (p.Asp237=)3815KITLikely benignrs1577958757RCV000941950|RCV001493554; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556588755565887TC4:g.55565887T>C-
NM_000222.3(KIT):c.723T>C (p.Ser241=)3815KITLikely benign-1RCV002157532; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556589955565899TC55565899-
NM_000222.3(KIT):c.724G>A (p.Val242Met)3815KITUncertain significancers1553887944RCV000539714; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556590055565900GA4:g.55565900G>AClinGen:CA356898538C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.728A>T (p.Tyr243Phe)3815KITUncertain significancers1577958787RCV000801613|RCV001026230; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556590455565904AT4:g.55565904A>T-
NM_000222.3(KIT):c.728A>G (p.Tyr243Cys)3815KITUncertain significance-1RCV002017874; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556590455565904AG55565904-
NM_000222.3(KIT):c.729C>T (p.Tyr243=)3815KITLikely benign-1RCV001434523; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556590555565905CT55565905-
NM_000222.3(KIT):c.733A>G (p.Thr245Ala)3815KITUncertain significancers754400702RCV000232729; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556590955565909AG4:g.55565909A>GClinGen:CA2923299C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.734C>T (p.Thr245Met)3815KITConflicting interpretations of pathogenicityrs755508624RCV000552165|RCV001026312; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556591055565910CT4:g.55565910C>TClinGen:CA2923300C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.735G>A (p.Thr245=)3815KITBenign/Likely benignrs150150449RCV000227627|RCV001026319; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556591155565911GA4:g.55565911G>AClinGen:CA2923301C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.735G>T (p.Thr245=)3815KITLikely benign-1RCV001493868; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556591155565911GT55565911-
NM_000222.3(KIT):c.746A>G (p.Glu249Gly)3815KITUncertain significancers1060502571RCV000462564; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556592255565922AGNC_000004.11:g.55565922A>GClinGen:CA16611590C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.748A>G (p.Asn250Asp)3815KITUncertain significancers1553887953RCV000527606; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556592455565924AG4:g.55565924A>GClinGen:CA356898660C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.749A>G (p.Asn250Ser)3815KITUncertain significancers748527429RCV000540047|RCV001026500; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556592555565925AG4:g.55565925A>GClinGen:CA2923302C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.753_756del (p.Ser251fs)3815KITPathogenicrs1553887960RCV000552533|RCV001783038; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN51720245556592655565929ACAGTANC_000004.11:g.55565929_55565932delClinGen:CA658655848C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.750C>T (p.Asn250=)3815KITLikely benign-1RCV001439473; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556592655565926CT55565926-
NM_000222.3(KIT):c.751A>G (p.Ser251Gly)3815KITUncertain significance-1RCV001361147; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556592755565927AG55565927-
NM_000222.3(KIT):c.756G>A (p.Gln252=)3815KITUncertain significance-1RCV001977923; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556593255565932GA55565932-
NM_000222.3(KIT):c.756+1G>A3815KITLikely pathogenicrs1301704156RCV000802845; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556593355565933GA4:g.55565933G>A-
NM_000222.3(KIT):c.756+3G>A3815KITUncertain significancers534201005RCV000533115; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556593555565935GA4:g.55565935G>AClinGen:CA2923304C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.756+3G>C3815KITUncertain significancers534201005RCV001230347; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556593555565935GC4:g.55565935G>C-
NM_000222.3(KIT):c.756+11C>T3815KITLikely benign-1RCV002151882; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556594355565943CT55565943-
NM_000222.3(KIT):c.756+14T>A3815KITLikely benign-1RCV002118311; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556594655565946TA55565946-
NM_000222.3(KIT):c.756+22_756+24del3815KITLikely benign-1RCV002205480; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556595055565952ATTCA55565949-
NM_000222.3(KIT):c.756+19T>C3815KITLikely benign-1RCV002187556; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556595155565951TC55565951-
NM_000222.3(KIT):c.757-18C>T3815KITLikely benign-1RCV002160394; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556987255569872CT55569872-
NM_000222.3(KIT):c.757-13C>A3815KITLikely benign-1RCV002162552; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556987755569877CA55569877-
NM_000222.3(KIT):c.757-12T>C3815KITLikely benign-1RCV002078303; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556987855569878TC55569878-
NC_000004.11:g.(?_55569880)_(55575715_?)dup3815KITLikely pathogenic-1RCV002006573; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556988055575715nana-1-
NM_000222.3(KIT):c.757-9A>G3815KITUncertain significancers367986084RCV000554033|RCV001356232; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN51720245556988155569881AG4:g.55569881A>GClinGen:CA2923316C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.757-7C>G3815KITUncertain significancers760308110RCV000546153; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556988355569883CG4:g.55569883C>GClinGen:CA2923317C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.757-7C>T3815KITLikely benign-1RCV002072404; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556988355569883CT55569883-
NC_000004.11:g.(?_55569884)_(55604729_?)dup3815KITUncertain significance-1RCV000633944; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556988455604729nana-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.757-3_757-1del3815KITLikely benign-1RCV001498582; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556988455569886CCAGC55569883-
NM_000222.3(KIT):c.757-4G>A3815KITLikely benign-1RCV001488751; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556988655569886GA55569886-
NM_000222.3(KIT):c.757-1G>A3815KITLikely pathogenic-1RCV002008144; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556988955569889GA55569889-
NM_000222.3(KIT):c.757A>G (p.Thr253Ala)3815KITUncertain significancers765944197RCV000530052; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556989055569890AG4:g.55569890A>GClinGen:CA2923318C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.758C>A (p.Thr253Asn)3815KITUncertain significance-1RCV001368447; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556989155569891CA55569891-
NM_000222.3(KIT):c.760A>G (p.Lys254Glu)3815KITUncertain significance-1RCV001981848; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556989355569893AG55569893-
NM_000222.3(KIT):c.763C>T (p.Leu255=)3815KITLikely benign-1RCV001472363; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556989655569896CT55569896-
NM_000222.3(KIT):c.764T>C (p.Leu255Pro)3815KITUncertain significance-1RCV001903415; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556989755569897TC55569897-
NM_000222.3(KIT):c.765A>G (p.Leu255=)3815KITLikely benign-1RCV001418604; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556989855569898AG55569898-
NM_000222.3(KIT):c.767A>C (p.Gln256Pro)3815KITUncertain significancers1720599914RCV001054160; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556990055569900AC4:g.55569900A>C-
NM_000222.3(KIT):c.772A>C (p.Lys258Gln)3815KITUncertain significance-1RCV001370674; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556990555569905AC55569905-
NM_000222.3(KIT):c.773A>C (p.Lys258Thr)3815KITUncertain significancers1577963039RCV000813307; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556990655569906AC4:g.55569906A>C-
NM_000222.3(KIT):c.774A>C (p.Lys258Asn)3815KITUncertain significancers755490030RCV000704210; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556990755569907AC4:g.55569907A>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.774A>G (p.Lys258=)3815KITLikely benignrs755490030RCV000936075|RCV001392259; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556990755569907AG4:g.55569907A>G-
NM_000222.3(KIT):c.776A>G (p.Tyr259Cys)3815KITUncertain significancers200422460RCV000034508|RCV000547076; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556990955569909AG4:g.55569909A>GClinGen:CA215596C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.780T>C (p.Asn260=)3815KITLikely benignrs1192922107RCV000943987|RCV001026840|RCV001476056; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556991355569913TC4:g.55569913T>C-
NM_000222.3(KIT):c.792C>T (p.His264=)3815KITLikely benignrs753102574RCV000633883|RCV001026962; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556992555569925CT4:g.55569925C>TClinGen:CA2923322C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.792C>A (p.His264Gln)3815KITUncertain significancers753102574RCV001244299; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556992555569925CA4:g.55569925C>A-
NM_000222.3(KIT):c.793G>A (p.Gly265Ser)3815KITUncertain significancers1060502570RCV000470377; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556992655569926GANC_000004.11:g.55569926G>AClinGen:CA16611657C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.794G>C (p.Gly265Ala)3815KITUncertain significance-1RCV002038156; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556992755569927GC55569927-
NM_000222.3(KIT):c.796G>T (p.Asp266Tyr)3815KITUncertain significancers1720603341RCV001035705; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556992955569929GT4:g.55569929G>T-
NM_000222.3(KIT):c.809A>G (p.Glu270Gly)3815KITUncertain significance-1RCV001992103; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556994255569942AG55569942-
NM_000222.3(KIT):c.811C>T (p.Arg271Cys)3815KITUncertain significancers1720604274RCV001051859; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556994455569944CT4:g.55569944C>T-
NM_000222.3(KIT):c.812G>A (p.Arg271His)3815KITUncertain significance-1RCV002004389; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556994555569945GA55569945-
NM_000222.3(KIT):c.816G>A (p.Gln272=)3815KITLikely benign-1RCV001504096; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556994955569949GA55569949-
NM_000222.3(KIT):c.817G>A (p.Ala273Thr)3815KITUncertain significancers769498440RCV000808863; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556995055569950GA4:g.55569950G>A-
NM_000222.3(KIT):c.819A>G (p.Ala273=)3815KITLikely benign-1RCV002134233; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556995255569952AG55569952-
NM_000222.3(KIT):c.821C>T (p.Thr274Met)3815KITConflicting interpretations of pathogenicityrs138585275RCV000034509|RCV000210905|RCV001027295|RCV001079392|RCV001147185|RCV001147186|RCV001818211; NMedGen:CN517202|MedGen:C2674636|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MO45556995455569954CT4:g.55569954C>TClinGen:CA215599C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.822G>A (p.Thr274=)3815KITLikely benignrs747288547RCV000465528; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556995555569955GANC_000004.11:g.55569955G>AClinGen:CA2923324C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.823T>C (p.Leu275=)3815KITLikely benign-1RCV001404588; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556995655569956TC55569956-
NM_000222.3(KIT):c.829A>G (p.Ile277Val)3815KITUncertain significancers757547974RCV000469535; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556996255569962AGNC_000004.11:g.55569962A>GClinGen:CA16611541C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.829A>C (p.Ile277Leu)3815KITUncertain significancers757547974RCV001240988; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556996255569962AC4:g.55569962A>C-
NM_000222.3(KIT):c.833G>T (p.Ser278Ile)3815KITUncertain significancers1325793057RCV001242560; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556996655569966GT4:g.55569966G>T-
NM_000222.3(KIT):c.840_925+649del3815KITLikely pathogenicrs1720606396RCV001231917; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556996655570700AGTTCAGCGAGAGTTAATGATTCTGGAGTGTTCATGTGTTATGCCAATAATACTTTTGGATCAGCAAATGTCACAACAACCTTGGAAGTAGTAGGTAAATACCTCTATGGA4:g.55569966_55570064del-
NM_000222.3(KIT):c.839C>T (p.Ala280Val)3815KITUncertain significancers386833402RCV000034510|RCV000633787|RCV001017685; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556997255569972CT4:g.55569972C>TClinGen:CA215602C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.840G>C (p.Ala280=)3815KITLikely benignrs142772432RCV000233322; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556997355569973GC4:g.55569973G>CClinGen:CA2923326C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.840G>A (p.Ala280=)3815KITLikely benignrs142772432RCV000867638|RCV001017718; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245556997355569973GA4:g.55569973G>A-
NM_000222.3(KIT):c.840G>T (p.Ala280=)3815KITLikely benignrs142772432RCV000983158; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556997355569973GT4:g.55569973G>T-
NM_000222.3(KIT):c.842G>A (p.Arg281Lys)3815KITUncertain significancers147367441RCV000633771; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556997555569975GA4:g.55569975G>AClinGen:CA2923329C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.844G>A (p.Val282Ile)3815KITUncertain significancers771961192RCV000227234; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556997755569977GA4:g.55569977G>AClinGen:CA2923330C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.852T>C (p.Asp284=)3815KITLikely benignrs1213025241RCV000633915; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556998555569985TC4:g.55569985T>CClinGen:CA439288459C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.858A>G (p.Gly286=)3815KITLikely benignrs1553888389RCV000542874; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556999155569991AG4:g.55569991A>GClinGen:CA439288464C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.859G>T (p.Val287Leu)3815KITUncertain significancers1720608499RCV001317406; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556999255569992GT55569992-
NM_000222.3(KIT):c.860T>C (p.Val287Ala)3815KITUncertain significance-1RCV001925589; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556999355569993TC55569993-
NM_000222.3(KIT):c.865A>G (p.Met289Val)3815KITUncertain significancers1577963205RCV000817757; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556999855569998AG4:g.55569998A>G-
NM_000222.3(KIT):c.866T>C (p.Met289Thr)3815KITUncertain significancers1363221725RCV000633810; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045556999955569999TC4:g.55569999T>CClinGen:CA356899965C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.867G>A (p.Met289Ile)3815KITUncertain significancers1297145844RCV001064446; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557000055570000GA4:g.55570000G>A-
NM_000222.3(KIT):c.867G>C (p.Met289Ile)3815KITUncertain significancers1297145844RCV001063027; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557000055570000GC4:g.55570000G>C-
NM_000222.3(KIT):c.872A>G (p.Tyr291Cys)3815KITUncertain significancers1720610130RCV001321325; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557000555570005AG55570005-
NM_000222.3(KIT):c.873T>C (p.Tyr291=)3815KITLikely benignrs772988068RCV000872183|RCV001018262; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557000655570006TC4:g.55570006T>C-
NM_000222.3(KIT):c.874G>A (p.Ala292Thr)3815KITUncertain significance-1RCV001980448; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557000755570007GA55570007-
NM_000222.3(KIT):c.876C>G (p.Ala292=)3815KITLikely benign-1RCV002156374; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557000955570009CG55570009-
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)3815KITConflicting interpretations of pathogenicityrs137909416RCV000231125|RCV001018319|RCV001147188|RCV001147187|RCV001355985; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45557001155570011AGNC_000004.11:g.55570011A>GClinGen:CA2923332C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.881A>G (p.Asn294Ser)3815KITUncertain significancers1019104358RCV001040029; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557001455570014AG4:g.55570014A>G-
NM_000222.3(KIT):c.882T>C (p.Asn294=)3815KITLikely benignrs765997309RCV000559844|RCV001473699; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557001555570015TC4:g.55570015T>CClinGen:CA2923333C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.888T>A (p.Phe296Leu)3815KITUncertain significancers1553888402RCV000633739; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557002155570021TA4:g.55570021T>AClinGen:CA356900072C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.891A>G (p.Gly297=)3815KITUncertain significance-1RCV001361750; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557002455570024AG55570024-
NM_000222.3(KIT):c.899A>G (p.Asn300Ser)3815KITUncertain significancers878853770RCV000234073; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557003255570032AG4:g.55570032A>GClinGen:CA10582255C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.900T>C (p.Asn300=)3815KITLikely benign-1RCV002116430; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557003355570033TC55570033-
NM_000222.3(KIT):c.901G>A (p.Val301Ile)3815KITUncertain significancers1720613744RCV001348448; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557003455570034GA55570034-
NM_000222.3(KIT):c.902T>C (p.Val301Ala)3815KITUncertain significancers759119367RCV000633845; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557003555570035TC4:g.55570035T>CClinGen:CA2923335C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.902T>G (p.Val301Gly)3815KITUncertain significance-1RCV001902880; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557003555570035TG55570035-
NM_000222.3(KIT):c.904A>C (p.Thr302Pro)3815KITUncertain significance-1RCV001898481; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557003755570037AC55570037-
NM_000222.3(KIT):c.906A>G (p.Thr302=)3815KITLikely benign-1RCV001451959; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557003955570039AG55570039-
NM_000222.3(KIT):c.909A>C (p.Thr303=)3815KITLikely benignrs531740394RCV000536449; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557004255570042AC4:g.55570042A>CClinGen:CA96852886C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)3815KITConflicting interpretations of pathogenicityrs202052259RCV000034511|RCV001018858|RCV001081377|RCV001148078|RCV001147190; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedG45557004355570043AG4:g.55570043A>GClinGen:CA215605C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.912C>T (p.Thr304=)3815KITLikely benignrs999025845RCV000475034|RCV001018903; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557004555570045CTNC_000004.11:g.55570045C>TClinGen:CA16611591C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.913T>G (p.Leu305Val)3815KITUncertain significancers1720615266RCV001213026; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557004655570046TG4:g.55570046T>G-
NM_000222.3(KIT):c.916G>A (p.Glu306Lys)3815KITUncertain significancers753258292RCV000548950; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557004955570049GANC_000004.11:g.55570049G>AClinGen:CA2923336C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.918A>G (p.Glu306=)3815KITLikely benign-1RCV002098884; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557005155570051AG55570051-
NM_000222.3(KIT):c.924A>G (p.Val308=)3815KITUncertain significance-1RCV001891103; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557005755570057AG55570057-
NM_000222.3(KIT):c.925+3A>G3815KITUncertain significancers1060502561RCV000473478; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557006155570061AGNC_000004.11:g.55570061A>GClinGen:CA16611659C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.925+6T>C3815KITUncertain significancers1720616932RCV001343447; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557006455570064TC55570064-
NM_000222.3(KIT):c.925+8C>T3815KITLikely benign-1RCV001465312; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557006655570066CT55570066-
NM_000222.3(KIT):c.925+9C>T3815KITBenignrs201405378RCV000460765; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557006755570067CTNC_000004.11:g.55570067C>TClinGen:CA2923337C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.925+9C>G3815KITLikely benign-1RCV002071048; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557006755570067CG55570067-
NM_000222.3(KIT):c.925+13A>G3815KITLikely benign-1RCV002106773; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557007155570071AG55570071-
NM_000222.3(KIT):c.925+15G>A3815KITUncertain significance-1RCV001956644; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557007355570073GA55570073-
NM_000222.3(KIT):c.925+16G>A3815KITLikely benign-1RCV002108769; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557007455570074GA55570074-
NM_000222.3(KIT):c.925+17G>T3815KITUncertain significance-1RCV001886564; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557007555570075GT55570075-
NM_000222.3(KIT):c.925+18A>T3815KITUncertain significance-1RCV002015732; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557007655570076AT55570076-
NM_000222.3(KIT):c.926-15T>C3815KITLikely benign-1RCV002115624; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557324955573249TC55573249-
NM_000222.3(KIT):c.926-8C>G3815KITUncertain significance-1RCV001991324; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557325655573256CG55573256-
NM_000222.3(KIT):c.926-7T>C3815KITLikely benignrs1577967039RCV000931868|RCV001436404; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557325755573257TC4:g.55573257T>C-
NM_000222.3(KIT):c.926-6A>G3815KITLikely benign-1RCV001415189; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557325855573258AG55573258-
NM_000222.3(KIT):c.926-4T>C3815KITLikely benign-1RCV001410323; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557326055573260TC55573260-
NM_000222.3(KIT):c.927T>A (p.Asp309Glu)3815KITUncertain significance-1RCV002005440; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557326555573265TA55573265-
NM_000222.3(KIT):c.932G>C (p.Gly311Ala)3815KITUncertain significancers1255809965RCV000808562; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557327055573270GC4:g.55573270G>C-
NM_000222.3(KIT):c.943A>G (p.Ile315Val)3815KITUncertain significance-1RCV001962043; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557328155573281AG55573281-
NM_000222.3(KIT):c.944T>A (p.Ile315Asn)3815KITUncertain significancers377590954RCV000803797; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557328255573282TA4:g.55573282T>A-
NM_000222.3(KIT):c.947T>C (p.Phe316Ser)3815KITUncertain significance-1RCV001362805; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557328555573285TC55573285-
NM_000222.3(KIT):c.948C>T (p.Phe316=)3815KITLikely benignrs1577967076RCV000969504; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557328655573286CT4:g.55573286C>T-
NM_000222.3(KIT):c.950C>G (p.Pro317Arg)3815KITUncertain significance-1RCV001871210; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557328855573288CG55573288-
NM_000222.3(KIT):c.951C>T (p.Pro317=)3815KITLikely benignrs770676368RCV000938394|RCV001437720; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557328955573289CT4:g.55573289C>T-
NM_000222.3(KIT):c.952A>G (p.Met318Val)3815KITConflicting interpretations of pathogenicityrs143388949RCV000228971|RCV001019462|RCV001148079|RCV001148080; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45557329055573290AG4:g.55573290A>GClinGen:CA211569C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.952A>C (p.Met318Leu)3815KITUncertain significancers143388949RCV001307994; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557329055573290AC55573290-
NM_000222.3(KIT):c.954G>A (p.Met318Ile)3815KITUncertain significancers769399180RCV000230762; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557329255573292GANC_000004.11:g.55573292G>AClinGen:CA2923351C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.954G>C (p.Met318Ile)3815KITUncertain significancers769399180RCV001215605; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557329255573292GC4:g.55573292G>C-
NM_000222.3(KIT):c.955A>G (p.Ile319Val)3815KITUncertain significance-1RCV001945415; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557329355573293AG55573293-
NM_000222.3(KIT):c.957A>G (p.Ile319Met)3815KITUncertain significancers377102206RCV001203965; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557329555573295AG4:g.55573295A>G-
NM_000222.3(KIT):c.961A>G (p.Thr321Ala)3815KITUncertain significance-1RCV001977738; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557329955573299AG55573299-
NM_000222.3(KIT):c.962C>G (p.Thr321Ser)3815KITUncertain significancers1720838867RCV001324154; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557330055573300CG55573300-
NM_000222.3(KIT):c.964A>G (p.Thr322Ala)3815KITUncertain significancers147540142RCV001228617; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557330255573302AG4:g.55573302A>G-
NM_000222.3(KIT):c.966A>T (p.Thr322=)3815KITLikely benignrs895638079RCV000977247|RCV001450776; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557330455573304AT4:g.55573304A>T-
NM_000222.3(KIT):c.967G>A (p.Val323Ile)3815KITUncertain significancers1060502539RCV000475447; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557330555573305GANC_000004.11:g.55573305G>AClinGen:CA16611660C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.969A>G (p.Val323=)3815KITLikely benignrs1553888773RCV000537400|RCV001019629; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557330755573307AG4:g.55573307A>GClinGen:CA439288590C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.973G>A (p.Val325Ile)3815KITUncertain significance-1RCV001977930; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557331155573311GA55573311-
NM_000222.3(KIT):c.976A>G (p.Asn326Asp)3815KITUncertain significancers1720840263RCV001204742; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557331455573314AG4:g.55573314A>G-
NM_000222.3(KIT):c.977A>G (p.Asn326Ser)3815KITUncertain significance-1RCV002019730; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557331555573315AG55573315-
NM_000222.3(KIT):c.978C>T (p.Asn326=)3815KITConflicting interpretations of pathogenicityrs148594615RCV000549192|RCV001019744|RCV001148082|RCV001148081; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45557331655573316CT4:g.55573316C>TClinGen:CA2923354C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.978C>G (p.Asn326Lys)3815KITUncertain significancers148594615RCV001066070; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557331655573316CG4:g.55573316C>G-
NM_000222.3(KIT):c.979G>A (p.Asp327Asn)3815KITUncertain significancers752061752RCV000633799; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557331755573317GA4:g.55573317G>AClinGen:CA2923355C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.981T>C (p.Asp327=)3815KITLikely benign-1RCV002108499; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557331955573319TC55573319-
NM_000222.3(KIT):c.984A>G (p.Gly328=)3815KITLikely benign-1RCV002131584; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557332255573322AG55573322-
NM_000222.3(KIT):c.993A>G (p.Val331=)3815KITLikely benignrs1553888778RCV000633859; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557333155573331AG4:g.55573331A>GClinGen:CA439288602C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.993A>T (p.Val331=)3815KITLikely benign-1RCV002172481; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557333155573331AT55573331-
NM_000222.3(KIT):c.995A>G (p.Asp332Gly)3815KITUncertain significance-1RCV001947563; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557333355573333AG55573333-
NM_000222.3(KIT):c.996T>A (p.Asp332Glu)3815KITUncertain significancers1720841191RCV001246717; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557333455573334TA4:g.55573334T>A-
NM_000222.3(KIT):c.1000_1003dup (p.Val335fs)3815KITPathogenic-1RCV001867464; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557333455573335TTTTGA55573334-
NM_000222.3(KIT):c.1008A>G (p.Glu336=)3815KITUncertain significance-1RCV002050191; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557334655573346AG55573346-
NM_000222.3(KIT):c.1011T>C (p.Tyr337=)3815KITLikely benignrs777287699RCV000531996; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557334955573349TC4:g.55573349T>CClinGen:CA96855358C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1017A>G (p.Ala339=)3815KITLikely benignrs1253593989RCV000633935|RCV001443434; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557335555573355AGNC_000004.11:g.55573355A>GClinGen:CA439288616C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1021C>T (p.Pro341Ser)3815KITUncertain significancers1720842703RCV001322266; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557335955573359CT55573359-
NM_000222.3(KIT):c.1023C>T (p.Pro341=)3815KITLikely benign-1RCV001448859; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557336155573361CT55573361-
NM_000222.3(KIT):c.1025A>G (p.Lys342Arg)3815KITUncertain significancers1720843061RCV001337712; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557336355573363AG55573363-
NM_000222.3(KIT):c.1025A>T (p.Lys342Ile)3815KITUncertain significance-1RCV002038554; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557336355573363AT55573363-
NM_000222.3(KIT):c.1027C>T (p.Pro343Ser)3815KITUncertain significancers878853757RCV000231141|RCV001017024; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557336555573365CTNC_000004.11:g.55573365C>TClinGen:CA10582256C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1032A>G (p.Glu344=)3815KITLikely benignrs1553888785RCV000633934; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337055573370AGNC_000004.11:g.55573370A>GClinGen:CA439288627C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1033C>T (p.His345Tyr)3815KITUncertain significancers1560401964RCV000693097; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337155573371CT4:g.55573371C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1035C>G (p.His345Gln)3815KITUncertain significance-1RCV001953124; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337355573373CG55573373-
NM_000222.3(KIT):c.1036C>G (p.Gln346Glu)3815KITUncertain significancers1060502555RCV000472330; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337455573374CGNC_000004.11:g.55573374C>GClinGen:CA16611592C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1038G>T (p.Gln346His)3815KITUncertain significancers1577967302RCV000817513; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337655573376GT4:g.55573376G>T-
NM_000222.3(KIT):c.1038G>A (p.Gln346=)3815KITLikely benign-1RCV001393780; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337655573376GA55573376-
NM_000222.3(KIT):c.1040A>G (p.Gln347Arg)3815KITUncertain significance-1RCV001914039; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337855573378AG55573378-
NM_000222.3(KIT):c.1041G>A (p.Gln347=)3815KITLikely benignrs750717279RCV000875007; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557337955573379GA4:g.55573379G>A-
NM_000222.3(KIT):c.1045A>G (p.Ile349Val)3815KITUncertain significancers756286159RCV000460615; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557338355573383AGNC_000004.11:g.55573383A>GClinGen:CA2923359C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1049A>G (p.Tyr350Cys)3815KITUncertain significancers864622728RCV000206375; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557338755573387AGNC_000004.11:g.55573387A>GClinGen:CA350416C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1051A>G (p.Met351Val)3815KITUncertain significancers1720845704RCV001042912; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557338955573389AG4:g.55573389A>G-
NM_000222.3(KIT):c.1053G>A (p.Met351Ile)3815KITUncertain significancers1553888790RCV000633824; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339155573391GANC_000004.11:g.55573391G>AClinGen:CA356901055C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1055A>G (p.Asn352Ser)3815KITUncertain significancers1560402002RCV000685949; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339355573393AG4:g.55573393A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1056C>G (p.Asn352Lys)3815KITUncertain significancers372759291RCV000633803; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339455573394CG4:g.55573394C>GClinGen:CA2923360C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1056C>T (p.Asn352=)3815KITLikely benignrs372759291RCV000924560; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339455573394CT4:g.55573394C>T-
NM_000222.3(KIT):c.1057A>G (p.Arg353Gly)3815KITUncertain significancers1720846582RCV001307046; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339555573395AG55573395-
NM_000222.3(KIT):c.1058G>A (p.Arg353Lys)3815KITUncertain significance-1RCV001907559; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339655573396GA55573396-
NM_000222.3(KIT):c.1059A>G (p.Arg353=)3815KITLikely benignrs988120776RCV000946078; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339755573397AG4:g.55573397A>G-
NM_000222.3(KIT):c.1061C>T (p.Thr354Ile)3815KITUncertain significance-1RCV001372136; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557339955573399CT55573399-
NM_000222.3(KIT):c.1062C>G (p.Thr354=)3815KITLikely benign-1RCV002102252; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557340055573400CG55573400-
NM_000222.3(KIT):c.1063T>A (p.Phe355Ile)3815KITUncertain significance-1RCV001900276; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557340155573401TA55573401-
NM_000222.3(KIT):c.1066A>G (p.Thr356Ala)3815KITUncertain significancers915272994RCV001233527; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557340455573404AG4:g.55573404A>G-
NM_000222.3(KIT):c.1074A>G (p.Lys358=)3815KITLikely benign-1RCV001494199; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557341255573412AG55573412-
NM_000222.3(KIT):c.1079A>G (p.Glu360Gly)3815KITUncertain significancers1577967381RCV000817836; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557341755573417AG4:g.55573417A>G-
NM_000222.3(KIT):c.1080A>C (p.Glu360Asp)3815KITUncertain significancers753844400RCV000557148; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557341855573418ACNC_000004.11:g.55573418A>CClinGen:CA2923361C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1081G>T (p.Asp361Tyr)3815KITUncertain significance-1RCV001956868; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557341955573419GT55573419-
NM_000222.3(KIT):c.1086T>C (p.Tyr362=)3815KITLikely benignrs554090824RCV000633941; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557342455573424TC4:g.55573424T>CClinGen:CA96855462C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1089C>A (p.Pro363=)3815KITLikely benign-1RCV001492805; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557342755573427CA55573427-
NM_000222.3(KIT):c.1091A>G (p.Lys364Arg)3815KITUncertain significancers375734891RCV000470430; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557342955573429AGNC_000004.11:g.55573429A>GClinGen:CA2923362C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1095T>A (p.Ser365=)3815KITLikely benignrs142963781RCV000477358|RCV001017268; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557343355573433TA4:g.55573433T>AClinGen:CA2923363C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1098G>A (p.Glu366=)3815KITLikely benignrs1060504663RCV000457024|RCV001475471; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557343655573436GANC_000004.11:g.55573436G>AClinGen:CA16611594C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1100A>C (p.Asn367Thr)3815KITUncertain significancers1060502552RCV000473251; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557343855573438ACNC_000004.11:g.55573438A>CClinGen:CA16611496C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1101T>C (p.Asn367=)3815KITLikely benign-1RCV002123380; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557343955573439TC55573439-
NM_000222.3(KIT):c.1106G>C (p.Ser369Thr)3815KITUncertain significancers746884875RCV000807850; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557344455573444GC4:g.55573444G>C-
NM_000222.3(KIT):c.1106G>A (p.Ser369Asn)3815KITUncertain significancers746884875RCV001220698; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557344455573444GA4:g.55573444G>A-
NM_000222.3(KIT):c.1109A>G (p.Asn370Ser)3815KITUncertain significancers878853758RCV000229114; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557344755573447AGNC_000004.11:g.55573447A>GClinGen:CA10582257C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1115+3A>G3815KITUncertain significancers1720850807RCV001233456; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557345655573456AG4:g.55573456A>G-
NM_000222.3(KIT):c.1115+4A>C3815KITUncertain significancers1720851027RCV001324397; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557345755573457AC55573457-
NM_000222.3(KIT):c.1115+7A>G3815KITLikely benignrs1553888808RCV000533334; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557346055573460AGNC_000004.11:g.55573460A>GClinGen:CA658655849C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1115+9T>C3815KITLikely benign-1RCV001433880; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557346255573462TC55573462-
NM_000222.3(KIT):c.1115+10G>A3815KITLikely benignrs780833633RCV000942590; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557346355573463GA4:g.55573463G>A-
NM_000222.3(KIT):c.1115+12A>G3815KITLikely benign-1RCV002117279; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557346555573465AG55573465-
NM_000222.3(KIT):c.1115+13C>T3815KITLikely benign-1RCV002133907; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557346655573466CT55573466-
NM_000222.3(KIT):c.1115+16del3815KITBenign-1RCV002075558; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557346855573468CTC55573467-
NM_000222.3(KIT):c.1115+17G>C3815KITLikely benign-1RCV002097323; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557347055573470GC55573470-
NM_000222.3(KIT):c.1115+18C>T3815KITLikely benign-1RCV002175130; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557347155573471CT55573471-
NM_000222.3(KIT):c.1115+19C>T3815KITLikely benign-1RCV002209529; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557347255573472CT55573472-
NM_000222.3(KIT):c.1116-19A>G3815KITLikely benign-1RCV001958863; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557557155575571AG55575571-
NM_000222.3(KIT):c.1116-16_1116-14del3815KITLikely benign-1RCV002174042; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557557255575574AGTTA55575571-
NM_000222.3(KIT):c.1116-17T>C3815KITLikely benign-1RCV002082883; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557557355575573TC55575573-
NM_000222.3(KIT):c.1116-13C>G3815KITLikely benign-1RCV002192069; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557557755575577CG55575577-
NM_000222.3(KIT):c.1116-9T>C3815KITLikely benignrs1553889072RCV000545374; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557558155575581TC4:g.55575581T>CClinGen:CA658655850C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1116-9T>A3815KITLikely benign-1RCV002074609; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557558155575581TA55575581-
NM_000222.3(KIT):c.1116-5T>C3815KITConflicting interpretations of pathogenicityrs376229086RCV000231822|RCV001017373; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557558555575585TCNC_000004.11:g.55575585T>CClinGen:CA2923390C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1117T>A (p.Tyr373Asn)3815KITUncertain significancers1720996900RCV001216895; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557559155575591TA4:g.55575591T>A-
NM_000222.3(KIT):c.1119C>T (p.Tyr373=)3815KITBenign/Likely benignrs72549293RCV000204968|RCV000249029|RCV000309223|RCV000362730|RCV001009911; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN169374|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Hu45557559355575593CTNC_000004.11:g.55575593C>TClinGen:CA349152C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1120G>A (p.Val374Ile)3815KITBenign/Likely benignrs73137716RCV000226794|RCV001009923|RCV001147189|RCV001149638|RCV001556024; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45557559455575594GANC_000004.11:g.55575594G>AClinGen:CA2923392C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1120G>T (p.Val374Leu)3815KITUncertain significance-1RCV002017985; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557559455575594GT55575594-
NM_000222.3(KIT):c.1126G>A (p.Glu376Lys)3815KITUncertain significancers1720997965RCV001233022; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557560055575600GA4:g.55575600G>A-
NM_000222.3(KIT):c.1126G>T (p.Glu376Ter)3815KITPathogenic-1RCV001383946; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557560055575600GT55575600-
NM_000222.3(KIT):c.1129C>G (p.Leu377Val)3815KITUncertain significancers1459672424RCV000796194; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557560355575603CG4:g.55575603C>G-
NM_000222.3(KIT):c.1135C>A (p.Leu379Ile)3815KITUncertain significancers376275305RCV000686626; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557560955575609CANC_000004.11:g.55575609C>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1136T>G (p.Leu379Arg)3815KITUncertain significancers1459751065RCV000688702; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557561055575610TGNC_000004.11:g.55575610T>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1137A>G (p.Leu379=)3815KITBenign/Likely benignrs773723931RCV000465253|RCV001009949; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557561155575611AGNC_000004.11:g.55575611A>GClinGen:CA2923395C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1139C>T (p.Thr380Met)3815KITUncertain significancers760981584RCV000467234|RCV001149640|RCV001149639; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Human Phenotype On45557561355575613CTNC_000004.11:g.55575613C>TClinGen:CA2923396C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1139C>G (p.Thr380Arg)3815KITUncertain significance-1RCV001922812; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557561355575613CG55575613-
NM_000222.3(KIT):c.1140G>A (p.Thr380=)3815KITLikely benignrs766702350RCV000458727; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557561455575614GANC_000004.11:g.55575614G>AClinGen:CA2923397C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1149A>G (p.Lys383=)3815KITLikely benign-1RCV001485847; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557562355575623AG55575623-
NM_000222.3(KIT):c.1153A>G (p.Thr385Ala)3815KITUncertain significancers776734905RCV000699913; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557562755575627AG4:g.55575627A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1154C>G (p.Thr385Ser)3815KITUncertain significancers1721000055RCV001245415; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557562855575628CG4:g.55575628C>G-
NM_000222.3(KIT):c.1154C>T (p.Thr385Ile)3815KITUncertain significance-1RCV002031043; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557562855575628CT55575628-
NM_000222.3(KIT):c.1155C>T (p.Thr385=)3815KITLikely benignrs373472667RCV000228678; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557562955575629CT4:g.55575629C>TClinGen:CA2923399C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1155C>G (p.Thr385=)3815KITLikely benignrs373472667RCV000460956; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557562955575629CGNC_000004.11:g.55575629C>GClinGen:CA2923401C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1159G>A (p.Gly387Arg)3815KITUncertain significance-1RCV001361423; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557563355575633GA55575633-
NM_000222.3(KIT):c.1165A>C (p.Thr389Pro)3815KITUncertain significancers1577970160RCV000813097; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557563955575639AC4:g.55575639A>C-
NM_000222.3(KIT):c.1166C>T (p.Thr389Ile)3815KITUncertain significancers1721000810RCV001234595; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557564055575640CT4:g.55575640C>T-
NM_000222.3(KIT):c.1168dup (p.Tyr390fs)3815KITPathogenicrs1721001014RCV001233830; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557564055575641CCT4:g.55575640_55575641insT-
NM_000222.3(KIT):c.1166C>G (p.Thr389Ser)3815KITUncertain significancers1721000810RCV001318060; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557564055575640CG55575640-
NM_000222.3(KIT):c.1171A>G (p.Thr391Ala)3815KITUncertain significancers757234342RCV001243897; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557564555575645AG4:g.55575645A>G-
NM_000222.3(KIT):c.1173A>G (p.Thr391=)3815KITLikely benignrs767377458RCV000633887; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557564755575647AGNC_000004.11:g.55575647A>GClinGen:CA96857545C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1173A>C (p.Thr391=)3815KITLikely benignrs767377458RCV000980869; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557564755575647AC4:g.55575647A>C-
NM_000222.3(KIT):c.1173A>T (p.Thr391=)3815KITLikely benign-1RCV001485932; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557564755575647AT55575647-
NM_000222.3(KIT):c.1176C>G (p.Phe392Leu)3815KITUncertain significancers1212358569RCV001051056; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565055575650CG4:g.55575650C>G-
NM_000222.3(KIT):c.1176C>A (p.Phe392Leu)3815KITUncertain significance-1RCV001949128; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565055575650CA55575650-
NM_000222.3(KIT):c.1177C>A (p.Leu393Ile)3815KITUncertain significancers750332587RCV001059527; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565155575651CA4:g.55575651C>A-
NM_000222.3(KIT):c.1177C>T (p.Leu393=)3815KITLikely benign-1RCV001415097; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565155575651CT55575651-
NM_000222.3(KIT):c.1179A>G (p.Leu393=)3815KITLikely benign-1RCV001492520; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565355575653AG55575653-
NM_000222.3(KIT):c.1179A>T (p.Leu393=)3815KITLikely benign-1RCV002084615; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565355575653AT55575653-
NM_000222.3(KIT):c.1180G>A (p.Val394Met)3815KITUncertain significance-1RCV001970591; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565455575654GA55575654-
NM_000222.3(KIT):c.1181T>C (p.Val394Ala)3815KITUncertain significancers1553889094RCV000633797|RCV001010187; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557565555575655TC4:g.55575655T>CClinGen:CA356902406C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1184C>T (p.Ser395Phe)3815KITUncertain significancers1721002320RCV001236228; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565855575658CT4:g.55575658C>T-
NM_000222.3(KIT):c.1185C>A (p.Ser395=)3815KITConflicting interpretations of pathogenicityrs755864184RCV000633857|RCV001145323|RCV001145324; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Human Phenotype On45557565955575659CANC_000004.11:g.55575659C>AClinGen:CA439288776C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1185C>T (p.Ser395=)3815KITLikely benignrs755864184RCV000864351; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565955575659CT4:g.55575659C>T-
NM_000222.3(KIT):c.1185C>G (p.Ser395=)3815KITLikely benignrs755864184RCV000885172; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557565955575659CG4:g.55575659C>G-
NM_000222.3(KIT):c.1187A>G (p.Asn396Ser)3815KITUncertain significancers1553889095RCV000557930; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557566155575661AGNC_000004.11:g.55575661A>GClinGen:CA356902448C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1188T>A (p.Asn396Lys)3815KITUncertain significancers1721003241RCV001344171; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557566255575662TA55575662-
NM_000222.3(KIT):c.1190C>T (p.Ser397Phe)3815KITUncertain significance-1RCV001949712; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557566455575664CT55575664-
NM_000222.3(KIT):c.1194C>T (p.Asp398=)3815KITLikely benignrs376940990RCV000534095; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557566855575668CT4:g.55575668C>TClinGen:CA2923406C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1194_1195delinsAT (p.Asp398_Val399delinsGluPhe)3815KITUncertain significancers1560404023RCV000694084; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557566855575669CGATNC_000004.11:g.55575668_55575669delinsAT-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)3815KITConflicting interpretations of pathogenicityrs143707288RCV000121322|RCV000231519|RCV001010178|RCV001145325|RCV001149637|RCV001567847; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology45557566955575669GA4:g.55575669G>AClinGen:CA160374C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1195G>T (p.Val399Phe)3815KITUncertain significancers143707288RCV001206048; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557566955575669GT4:g.55575669G>T-
NM_000222.3(KIT):c.1196T>C (p.Val399Ala)3815KITUncertain significancers1553889101RCV000551264; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557567055575670TC4:g.55575670T>CClinGen:CA356902522C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser)3815KITBenign/Likely benignrs72549294RCV000034502|RCV001010251|RCV001083741; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557567355575673AG4:g.55575673A>GClinGen:CA215581C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1201G>A (p.Ala401Thr)3815KITUncertain significancers778615486RCV000633746|RCV001010196; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557567555575675GANC_000004.11:g.55575675G>AClinGen:CA2923407C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1204G>T (p.Ala402Ser)3815KITUncertain significance-1RCV001874445; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557567855575678GT55575678-
NM_000222.3(KIT):c.1206C>T (p.Ala402=)3815KITLikely benignrs747686609RCV000633903; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557568055575680CT4:g.55575680C>TClinGen:CA2923408C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1207A>G (p.Ile403Val)3815KITConflicting interpretations of pathogenicityrs878853759RCV000226360|RCV001010306|RCV000998237; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN51720245557568155575681AG4:g.55575681A>GClinGen:CA10582258C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1209A>T (p.Ile403=)3815KITLikely benignrs1467087033RCV000558681|RCV001430475; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557568355575683ATNC_000004.11:g.55575683A>TClinGen:CA439288794C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1210G>A (p.Ala404Thr)3815KITUncertain significancers1272269119RCV000697126; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557568455575684GA4:g.55575684G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1211C>A (p.Ala404Glu)3815KITUncertain significancers1345754212RCV000633762; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557568555575685CA4:g.55575685C>AClinGen:CA356902619C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1217A>G (p.Asn406Ser)3815KITUncertain significancers771574892RCV001010374|RCV001862767; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557569155575691AG4:g.55575691A>G-
NM_000222.3(KIT):c.1224T>C (p.Tyr408=)3815KITLikely benignrs1403733672RCV000934217|RCV001396256; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557569855575698TC4:g.55575698T>C-
NM_000222.3(KIT):c.1227_1228delinsAT (p.Asn410Tyr)3815KITUncertain significancers1060502548RCV000462418; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557570155575702GAATNC_000004.11:g.55575701_55575702delinsATClinGen:CA16611665C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1229A>C (p.Asn410Thr)3815KITUncertain significancers1213469406RCV001059721; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557570355575703AC4:g.55575703A>C-
NM_000222.3(KIT):c.1230T>C (p.Asn410=)3815KITLikely benignrs140536677RCV000464215|RCV001010455; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245557570455575704TCNC_000004.11:g.55575704T>CClinGen:CA2923412C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1231+8A>G3815KITLikely benignrs776973839RCV000534890; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557571355575713AGNC_000004.11:g.55575713A>GClinGen:CA2923413C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1231+10A>G3815KITLikely benign-1RCV001503115; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557571555575715AG55575715-
NM_000222.3(KIT):c.1231+11T>C3815KITLikely benign-1RCV002075984; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557571655575716TC55575716-
NM_000222.3(KIT):c.1231+13A>T3815KITUncertain significance-1RCV002015714; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557571855575718AT55575718-
NM_000222.3(KIT):c.1231+14A>G3815KITLikely benign-1RCV002105685; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557571955575719AG55575719-
NM_000222.3(KIT):c.1231+20C>T3815KITLikely benign-1RCV002167282; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045557572555575725CT55575725-
NM_000222.3(KIT):c.1232-12G>A3815KITLikely benign-1RCV002131060; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558973855589738GA55589738-
NC_000004.11:g.(?_55589740)_(55604733_?)dup3815KITUncertain significance-1RCV000803923; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974055604733nana-
NM_000222.3(KIT):c.1232-9T>C3815KITLikely benign-1RCV001410815; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974155589741TC55589741-
NM_000222.3(KIT):c.1232-8T>G3815KITLikely benignrs753790041RCV000935221|RCV001446619; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974255589742TG4:g.55589742T>G-
NM_000222.3(KIT):c.1232-7C>T3815KITLikely benignrs1577988561RCV000936798|RCV001406033; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974355589743CT4:g.55589743C>T-
NM_000222.3(KIT):c.1232-6C>G3815KITConflicting interpretations of pathogenicityrs1553890995RCV000527668; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974455589744CGNC_000004.11:g.55589744C>GClinGen:CA658655851C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1232-6C>T3815KITLikely benign-1RCV001416252; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974455589744CT55589744-
NM_000222.3(KIT):c.1232-5T>C3815KITConflicting interpretations of pathogenicityrs1355467895RCV000972048|RCV001010463; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245558974555589745TC4:g.55589745T>C-
NM_000222.3(KIT):c.1232-4G>A3815KITLikely benignrs759411599RCV000547489; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974655589746GANC_000004.11:g.55589746G>AClinGen:CA2923442C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1232-3dup3815KITUncertain significancers1577988597RCV000801664; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974655589747GGT4:g.55589746_55589747insT-
NM_000222.3(KIT):c.1232-3T>C3815KITUncertain significancers1722024450RCV001247112; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974755589747TC4:g.55589747T>C-
NM_000222.3(KIT):c.1232-1G>A3815KITLikely pathogenic-1RCV001378860; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558974955589749GA55589749-
NM_000222.3(KIT):c.1239A>G (p.Pro413=)3815KITLikely benign-1RCV001477409; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558975755589757AG55589757-
NM_000222.3(KIT):c.1240G>C (p.Glu414Gln)3815KITUncertain significancers1722025262RCV001037552; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558975855589758GC4:g.55589758G>C-
NM_000222.3(KIT):c.1245C>T (p.Ile415=)3815KITLikely benign-1RCV001455300; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558976355589763CT55589763-
NM_000222.3(KIT):c.1246C>T (p.Leu416=)3815KITLikely benign-1RCV001501517; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558976455589764CT55589764-
NM_000222.3(KIT):c.1248G>C (p.Leu416=)3815KITLikely benign-1RCV001485897; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558976655589766GC55589766-
NM_000222.3(KIT):c.1254C>T (p.Tyr418=)3815KITLikely benignrs1553891002RCV000535713; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977255589772CT4:g.55589772C>TClinGen:CA439289545C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1255G>A (p.Asp419Asn)3815KITUncertain significancers752354428RCV000548330; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977355589773GA4:g.55589773G>AClinGen:CA2923444C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1255G>T (p.Asp419Tyr)3815KITUncertain significancers752354428RCV001010577|RCV001234092; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977355589773GT4:g.55589773G>T-
NM_000222.3(KIT):c.1255G>C (p.Asp419His)3815KITUncertain significancers752354428RCV001314806; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977355589773GC55589773-
NM_000222.3(KIT):c.1256A>G (p.Asp419Gly)3815KITUncertain significance-1RCV001867346; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977455589774AG55589774-
NM_000222.3(KIT):c.1257C>T (p.Asp419=)3815KITLikely benignrs1165367332RCV000529028; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977555589775CT4:g.55589775C>TClinGen:CA439289555C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1263_1265dup (p.Val422dup)3815KITUncertain significancers587778434RCV000121323|RCV001058335; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977955589780CCTCG4:g.55589779_55589780insTCGClinGen:CA160377CN169374 not specified;
NM_000222.3(KIT):c.1261C>T (p.Leu421Phe)3815KITUncertain significancers1560414379RCV000701274; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977955589779CTNC_000004.11:g.55589779C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1261C>A (p.Leu421Ile)3815KITUncertain significance-1RCV001366418; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558977955589779CA55589779-
NM_000222.3(KIT):c.1263C>T (p.Leu421=)3815KITLikely benignrs1553891010RCV000633875; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558978155589781CT4:g.55589781C>TClinGen:CA439289583C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1264G>A (p.Val422Met)3815KITConflicting interpretations of pathogenicityrs1560414398RCV000699413|RCV001010625|RCV001145327|RCV001145326; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Huma45558978255589782GANC_000004.11:g.55589782G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1272C>T (p.Gly424=)3815KITUncertain significancers1553891012RCV000541057; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979055589790CTNC_000004.11:g.55589790C>TClinGen:CA439289618C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1273A>G (p.Met425Val)3815KITUncertain significance-1RCV001949775; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979155589791AG55589791-
NM_000222.3(KIT):c.1274T>A (p.Met425Lys)3815KITUncertain significancers878853760RCV000229208|RCV000315366|RCV000368628; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Human Phenotype Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080045558979255589792TANC_000004.11:g.55589792T>AClinGen:CA10582259C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1274T>C (p.Met425Thr)3815KITUncertain significancers878853760RCV001348475; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979255589792TC55589792-
NM_000222.3(KIT):c.1275G>A (p.Met425Ile)3815KITUncertain significancers1560414419RCV000697745; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979355589793GA4:g.55589793G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1276C>A (p.Leu426Ile)3815KITUncertain significancers758061831RCV000468923; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979455589794CANC_000004.11:g.55589794C>AClinGen:CA16611551C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1276C>G (p.Leu426Val)3815KITUncertain significancers758061831RCV001040431; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979455589794CG4:g.55589794C>G-
NM_000222.3(KIT):c.1278C>G (p.Leu426=)3815KITLikely benign-1RCV002101790; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979655589796CG55589796-
NM_000222.3(KIT):c.1278C>T (p.Leu426=)3815KITLikely benign-1RCV002161666; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979655589796CT55589796-
NM_000222.3(KIT):c.1280A>T (p.Gln427Leu)3815KITUncertain significancers1560414436RCV000705628; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979855589798AT4:g.55589798A>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1280A>G (p.Gln427Arg)3815KITUncertain significance-1RCV002033405; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979855589798AG55589798-
NM_000222.3(KIT):c.1281A>T (p.Gln427His)3815KITUncertain significancers376889675RCV001052482; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979955589799AT4:g.55589799A>T-
NM_000222.3(KIT):c.1281A>G (p.Gln427=)3815KITUncertain significancers376889675RCV001209001; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558979955589799AG4:g.55589799A>G-
NM_000222.3(KIT):c.1285G>C (p.Val429Leu)3815KITUncertain significancers1722031307RCV001034725; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980355589803GC4:g.55589803G>C-
NM_000222.3(KIT):c.1285G>A (p.Val429Met)3815KITUncertain significance-1RCV001922448; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980355589803GA55589803-
NM_000222.3(KIT):c.1287G>A (p.Val429=)3815KITUncertain significancers563667772RCV001233464; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980555589805GA4:g.55589805G>A-
NM_000222.3(KIT):c.1288G>A (p.Ala430Thr)3815KITUncertain significancers1060502540RCV000477352; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980655589806GANC_000004.11:g.55589806G>AClinGen:CA16611595C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1289C>T (p.Ala430Val)3815KITUncertain significancers1722031777RCV001326027; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980755589807CT55589807-
NM_000222.3(KIT):c.1290A>G (p.Ala430=)3815KITBenign/Likely benignrs55966164RCV000233334|RCV001010783|RCV001085838; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980855589808AG4:g.55589808A>GClinGen:CA2923448C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1291G>A (p.Ala431Thr)3815KITUncertain significancers962542157RCV000797643; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980955589809GA4:g.55589809G>A-
NM_000222.3(KIT):c.1291G>T (p.Ala431Ser)3815KITUncertain significance-1RCV001963838; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558980955589809GT55589809-
NM_000222.3(KIT):c.1296A>T (p.Gly432=)3815KITLikely benignrs781686359RCV000226034; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558981455589814ATNC_000004.11:g.55589814A>TClinGen:CA10582260C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1296A>G (p.Gly432=)3815KITLikely benignrs781686359RCV000553679; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558981455589814AGNC_000004.11:g.55589814A>GClinGen:CA2923449C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1298T>C (p.Phe433Ser)3815KITUncertain significancers1577988844RCV000799661; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558981655589816TC4:g.55589816T>C-
NM_000222.3(KIT):c.1302A>G (p.Pro434=)3815KITLikely benignrs770157148RCV000633932; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558982055589820AG4:g.55589820A>GClinGen:CA2923451C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1304A>C (p.Glu435Ala)3815KITUncertain significance-1RCV002031888; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558982255589822AC55589822-
NM_000222.3(KIT):c.1312A>G (p.Ile438Val)3815KITUncertain significancers780382854RCV000695498; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558983055589830AGNC_000004.11:g.55589830A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1316A>T (p.Asp439Val)3815KITUncertain significancers1476141776RCV001038192; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558983455589834AT4:g.55589834A>T-
NM_000222.3(KIT):c.1316A>G (p.Asp439Gly)3815KITUncertain significance-1RCV001887074; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558983455589834AG55589834-
NM_000222.3(KIT):c.1317T>C (p.Asp439=)3815KITLikely benignrs144185800RCV000525272; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558983555589835TC4:g.55589835T>CClinGen:CA2923453C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1323T>C (p.Tyr441=)3815KITLikely benign-1RCV001484926; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558984155589841TC55589841-
NM_000222.3(KIT):c.1326T>A (p.Phe442Leu)3815KITUncertain significancers1553891024RCV000633846; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558984455589844TA4:g.55589844T>AClinGen:CA356905742C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1328G>C (p.Cys443Ser)3815KITUncertain significance-1RCV002006363; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558984655589846GC55589846-
NM_000222.3(KIT):c.1329T>C (p.Cys443=)3815KITLikely benign-1RCV001409093; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558984755589847TC55589847-
NM_000222.3(KIT):c.1330C>T (p.Pro444Ser)3815KITUncertain significance-1RCV001910695; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558984855589848CT55589848-
NM_000222.3(KIT):c.1331C>T (p.Pro444Leu)3815KITUncertain significance-1RCV002024454; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558984955589849CT55589849-
NM_000222.3(KIT):c.1336A>G (p.Thr446Ala)3815KITUncertain significancers1351743650RCV000633847; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558985455589854AG4:g.55589854A>GClinGen:CA356905765C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1337C>A (p.Thr446Asn)3815KITUncertain significancers761984908RCV000805048; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558985555589855CA4:g.55589855C>A-
NM_000222.3(KIT):c.1344G>C (p.Gln448His)3815KITUncertain significancers542718349RCV000542414; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558986255589862GCNC_000004.11:g.55589862G>CClinGen:CA2923457C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1344G>A (p.Gln448=)3815KITLikely benignrs542718349RCV000633892; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558986255589862GA4:g.55589862G>AClinGen:CA2923458C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1346+6A>G3815KITUncertain significancers893710756RCV001319766; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558987055589870AG55589870-
NM_000222.3(KIT):c.1346+7T>C3815KITLikely benignrs199510933RCV000229868; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558987155589871TCNC_000004.11:g.55589871T>CClinGen:CA2923459C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1346+8G>A3815KITLikely benign-1RCV002187387; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558987255589872GA55589872-
NM_000222.3(KIT):c.1346+11T>G3815KITLikely benign-1RCV002094685; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558987555589875TG55589875-
NM_000222.3(KIT):c.1346+17del3815KITBenign-1RCV002190321; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558987755589877ATA55589876-
NM_000222.3(KIT):c.1346+19_1346+24del3815KITLikely benign-1RCV002177320; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558988155589886TTGGCACT55589880-
NM_000222.3(KIT):c.1346+17T>G3815KITLikely benign-1RCV002109443; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558988155589881TG55589881-
NM_000222.3(KIT):c.1346+19G>C3815KITLikely benign-1RCV002124483; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045558988355589883GC55589883-
NM_000222.3(KIT):c.1347-12T>C3815KITLikely benign-1RCV002082175; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559201155592011TC55592011-
NM_000222.3(KIT):c.1347-8C>G3815KITLikely benignrs1577992011RCV000983232|RCV001491947; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559201555592015CG4:g.55592015C>G-
NM_000222.3(KIT):c.1347-7C>A3815KITLikely benignrs1577992021RCV000878088|RCV001440770; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559201655592016CA4:g.55592016C>A-
NM_000222.3(KIT):c.1347-7C>T3815KITLikely benign-1RCV001397730; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559201655592016CT55592016-
NM_000222.3(KIT):c.1347-5T>C3815KITLikely benignrs1553891394RCV000554415; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559201855592018TC4:g.55592018T>CClinGen:CA658655853C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1351T>C (p.Ser451Pro)3815KITUncertain significancers145183977RCV000462044|RCV001011082; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559202755592027TCNC_000004.11:g.55592027T>CClinGen:CA2923476C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1352C>T (p.Ser451Phe)3815KITUncertain significancers1060502556RCV000461759; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559202855592028CTNC_000004.11:g.55592028C>TClinGen:CA16611498C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1356T>C (p.Ala452=)3815KITLikely benign-1RCV001465237; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559203255592032TC55592032-
NM_000222.3(KIT):c.1357T>G (p.Ser453Ala)3815KITUncertain significancers1722183922RCV001042251; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559203355592033TG4:g.55592033T>G-
NM_000222.3(KIT):c.1359T>G (p.Ser453=)3815KITLikely benignrs769828541RCV000633896; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559203555592035TG4:g.55592035T>GClinGen:CA2923477C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1359T>C (p.Ser453=)3815KITLikely benign-1RCV001506847; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559203555592035TC55592035-
NM_000222.3(KIT):c.1360G>C (p.Val454Leu)3815KITUncertain significancers1560415938RCV000688276; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559203655592036GCNC_000004.11:g.55592036G>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1363C>T (p.Leu455=)3815KITLikely benign-1RCV001430143; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559203955592039CT55592039-
NM_000222.3(KIT):c.1364T>G (p.Leu455Arg)3815KITUncertain significance-1RCV001958408; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559204055592040TG55592040-
NM_000222.3(KIT):c.1365G>A (p.Leu455=)3815KITLikely benign-1RCV002172683; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559204155592041GA55592041-
NM_000222.3(KIT):c.1368A>G (p.Pro456=)3815KITLikely benignrs1577992102RCV000937574; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559204455592044AG4:g.55592044A>G-
NM_000222.3(KIT):c.1372_1377del (p.Asp458_Val459del)3815KITUncertain significance-1RCV002010508; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559204555592050AGTGGATA55592044-
NM_000222.3(KIT):c.1372G>A (p.Asp458Asn)3815KITUncertain significance-1RCV001900940; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559204855592048GA55592048-
NM_000222.3(KIT):c.1373A>T (p.Asp458Val)3815KITUncertain significancers1553891403RCV000633836; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559204955592049AT4:g.55592049A>TClinGen:CA356906260C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1373A>G (p.Asp458Gly)3815KITUncertain significance-1RCV001890998; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559204955592049AG55592049-
NM_000222.3(KIT):c.1375G>A (p.Val459Met)3815KITUncertain significancers1722185482RCV001339908; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559205155592051GA55592051-
NM_000222.3(KIT):c.1376T>C (p.Val459Ala)3815KITUncertain significancers1722185671RCV001070716; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559205255592052TC4:g.55592052T>C-
NM_000222.3(KIT):c.1376T>G (p.Val459Gly)3815KITUncertain significancers1722185671RCV001201455; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559205255592052TG4:g.55592052T>G-
NM_000222.3(KIT):c.1378C>G (p.Gln460Glu)3815KITUncertain significance-1RCV001978686; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559205455592054CG55592054-
NM_000222.3(KIT):c.1383A>G (p.Thr461=)3815KITConflicting interpretations of pathogenicityrs151016327RCV000232720|RCV001147269|RCV001147270|RCV001312041|RCV001818565|RCV001011293; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Human Phenotype On45559205955592059AG4:g.55592059A>GClinGen:CA2923480C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1384C>A (p.Leu462Ile)3815KITUncertain significancers1722186242RCV001060739; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559206055592060CA4:g.55592060C>A-
NM_000222.3(KIT):c.1387A>C (p.Asn463His)3815KITUncertain significancers1577992151RCV000797827; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559206355592063AC4:g.55592063A>C-
NM_000222.3(KIT):c.1392A>C (p.Ser464=)3815KITLikely benign-1RCV002153977; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559206855592068AC55592068-
NM_000222.3(KIT):c.1396G>A (p.Gly466Arg)3815KITUncertain significancers1282859149RCV000633737; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559207255592072GANC_000004.11:g.55592072G>AClinGen:CA356906307C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1399C>T (p.Pro467Ser)3815KITUncertain significancers1722187399RCV001300905; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559207555592075CT55592075-
NM_000222.3(KIT):c.1403C>T (p.Pro468Leu)3815KITUncertain significancers200518498RCV000034503|RCV000543221; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559207955592079CT4:g.55592079C>TClinGen:CA215584C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1403C>A (p.Pro468Gln)3815KITUncertain significancers200518498RCV000530622; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559207955592079CANC_000004.11:g.55592079C>AClinGen:CA96874777C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1404G>A (p.Pro468=)3815KITLikely benignrs767079772RCV000473482; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559208055592080GANC_000004.11:g.55592080G>AClinGen:CA2923484C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1404G>C (p.Pro468=)3815KITLikely benign-1RCV001505296; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559208055592080GC55592080-
NM_000222.3(KIT):c.1407T>G (p.Phe469Leu)3815KITUncertain significancers1553891415RCV000633718; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559208355592083TGNC_000004.11:g.55592083T>GClinGen:CA356906329C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1408G>A (p.Gly470Arg)3815KITUncertain significancers749914029RCV000555782; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559208455592084GANC_000004.11:g.55592084G>AClinGen:CA2923485C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1411A>C (p.Lys471Gln)3815KITUncertain significancers1471406283RCV000687945; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559208755592087AC4:g.55592087A>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1413G>A (p.Lys471=)3815KITLikely benignrs766943473RCV000938958|RCV001438162; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559208955592089GA4:g.55592089G>A-
NM_000222.3(KIT):c.1416A>G (p.Leu472=)3815KITLikely benignrs934899537RCV000475540; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559209255592092AGNC_000004.11:g.55592092A>GClinGen:CA16611499C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1424A>T (p.Gln475Leu)3815KITUncertain significancers1577992299RCV000823617; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559210055592100AT4:g.55592100A>T-
NM_000222.3(KIT):c.1426A>G (p.Ser476Gly)3815KITUncertain significance-1RCV001371219; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559210255592102AG55592102-
NM_000222.3(KIT):c.1430C>T (p.Ser477Phe)3815KITUncertain significance-1RCV001992464; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559210655592106CT55592106-
NM_000222.3(KIT):c.1432A>G (p.Ile478Val)3815KITUncertain significancers1185109256RCV000531378; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559210855592108AGNC_000004.11:g.55592108A>GClinGen:CA356906381C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1434A>T (p.Ile478=)3815KITLikely benign-1RCV001447568; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559211055592110AT55592110-
NM_000222.3(KIT):c.1438T>G (p.Ser480Ala)3815KITUncertain significancers1417993831RCV001048226; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559211455592114TG4:g.55592114T>G-
NM_000222.3(KIT):c.1440T>C (p.Ser480=)3815KITLikely benignrs1577992342RCV000928480|RCV001473349; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559211655592116TC4:g.55592116T>C-
NM_000222.3(KIT):c.1442G>A (p.Ser481Asn)3815KITUncertain significance-1RCV001965910; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559211855592118GA55592118-
NM_000222.3(KIT):c.1443T>G (p.Ser481Arg)3815KITUncertain significancers1553891429RCV000633741; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559211955592119TG4:g.55592119T>GClinGen:CA356906407C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1443T>C (p.Ser481=)3815KITLikely benign-1RCV002184129; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559211955592119TC55592119-
NM_000222.3(KIT):c.1444G>A (p.Ala482Thr)3815KITUncertain significancers1060502569RCV000468856|RCV001011615; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559212055592120GANC_000004.11:g.55592120G>AClinGen:CA16611597C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1444G>T (p.Ala482Ser)3815KITUncertain significancers1060502569RCV001064091; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559212055592120GT4:g.55592120G>T-
NM_000222.3(KIT):c.1445C>A (p.Ala482Glu)3815KITUncertain significance-1RCV001907952; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559212155592121CA55592121-
NM_000222.3(KIT):c.1446A>C (p.Ala482=)3815KITLikely benign-1RCV001429190; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559212255592122AC55592122-
NM_000222.3(KIT):c.1446A>G (p.Ala482=)3815KITLikely benign-1RCV001475031; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559212255592122AG55592122-
NM_000222.3(KIT):c.1449C>G (p.Phe483Leu)3815KITUncertain significancers1722191573RCV001051304; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559212555592125CG4:g.55592125C>G-
NM_000222.3(KIT):c.1453C>T (p.His485Tyr)3815KITUncertain significancers1553891437RCV000544008; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559212955592129CT4:g.55592129C>TClinGen:CA356906431C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1454A>C (p.His485Pro)3815KITUncertain significancers1553891439RCV000556537; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559213055592130ACNC_000004.11:g.55592130A>CClinGen:CA356906432C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1455C>A (p.His485Gln)3815KITUncertain significance-1RCV001369882; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559213155592131CA55592131-
NM_000222.3(KIT):c.1455C>T (p.His485=)3815KITLikely benign-1RCV001439580; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559213155592131CT55592131-
NM_000222.3(KIT):c.1461C>G (p.Gly487=)3815KITLikely benignrs1048122979RCV000471161; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559213755592137CGNC_000004.11:g.55592137C>GClinGen:CA16611598C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1461C>T (p.Gly487=)3815KITUncertain significance-1RCV001972160; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559213755592137CT55592137-
NM_000222.3(KIT):c.1462A>C (p.Thr488Pro)3815KITUncertain significancers748451770RCV000801453; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559213855592138AC4:g.55592138A>C-
NM_000222.3(KIT):c.1463C>T (p.Thr488Met)3815KITUncertain significancers56225530RCV000696644; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559213955592139CTNC_000004.11:g.55592139C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1464G>A (p.Thr488=)3815KITLikely benignrs878853761RCV000227849; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559214055592140GANC_000004.11:g.55592140G>AClinGen:CA10582261C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1464G>C (p.Thr488=)3815KITLikely benign-1RCV001503383; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559214055592140GC55592140-
NM_000222.3(KIT):c.1471T>C (p.Cys491Arg)3815KITUncertain significancers1722194127RCV001296683; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559214755592147TC55592147-
NM_000222.3(KIT):c.1477G>A (p.Ala493Thr)3815KITUncertain significancers1577992484RCV000791862; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559215355592153GA4:g.55592153G>A-
NM_000222.3(KIT):c.1480T>A (p.Tyr494Asn)3815KITUncertain significance-1RCV001991399; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559215655592156TA55592156-
NM_000222.3(KIT):c.1482C>T (p.Tyr494=)3815KITLikely benign-1RCV001412958; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559215855592158CT55592158-
NM_000222.3(KIT):c.1482C>A (p.Tyr494Ter)3815KITPathogenic-1RCV001993175; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559215855592158CA55592158-
NM_000222.3(KIT):c.1485C>T (p.Asn495=)3815KITLikely benignrs775498908RCV000876636; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559216155592161CT4:g.55592161C>T-
NM_000222.3(KIT):c.1486G>A (p.Asp496Asn)3815KITUncertain significancers143179681RCV000463995|RCV001011822; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559216255592162GANC_000004.11:g.55592162G>AClinGen:CA2923497C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1488T>C (p.Asp496=)3815KITLikely benignrs1577992515RCV000976285|RCV001484787; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559216455592164TC4:g.55592164T>C-
NM_000222.3(KIT):c.1489G>T (p.Val497Leu)3815KITUncertain significancers1439977705RCV000699193; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559216555592165GT4:g.55592165G>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1489G>C (p.Val497Leu)3815KITUncertain significancers1439977705RCV000687137; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559216555592165GC4:g.55592165G>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1497G>A (p.Lys499=)3815KITLikely benignrs374432699RCV000557343|RCV001011792; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559217355592173GA4:g.55592173G>AClinGen:CA2923499C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1499C>G (p.Thr500Ser)3815KITUncertain significance-1RCV001372982; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559217555592175CG55592175-
NM_000222.3(KIT):c.1500T>C (p.Thr500=)3815KITLikely benignrs1553891462RCV000633878|RCV001393126; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559217655592176TC4:g.55592176T>CClinGen:CA439290855C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1505C>T (p.Ala502Val)3815KITUncertain significance-1RCV001954999; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559218155592181CT55592181-
NM_000222.3(KIT):c.1506C>T (p.Ala502=)3815KITLikely benignrs1060504652RCV000464758|RCV001397469; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559218255592182CTNC_000004.11:g.55592182C>TClinGen:CA16611501C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1512T>C (p.Phe504=)3815KITLikely benign-1RCV002194256; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559218855592188TC55592188-
NM_000222.3(KIT):c.1517T>C (p.Phe506Ser)3815KITUncertain significancers1722196973RCV001312877; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559219355592193TC55592193-
NM_000222.3(KIT):c.1518T>C (p.Phe506=)3815KITLikely benign-1RCV002088734; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559219455592194TC55592194-
NM_000222.3(KIT):c.1519G>T (p.Ala507Ser)3815KITUncertain significance-1RCV001371367; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559219555592195GT55592195-
NM_000222.3(KIT):c.1521A>T (p.Ala507=)3815KITLikely benign-1RCV001416919; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559219755592197AT55592197-
NM_000222.3(KIT):c.1522T>A (p.Phe508Ile)3815KITUncertain significance-1RCV001887808; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559219855592198TA55592198-
NM_000222.3(KIT):c.1523T>G (p.Phe508Cys)3815KITUncertain significance-1RCV001907742; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559219955592199TG55592199-
NM_000222.3(KIT):c.1526A>T (p.Lys509Ile)3815KITPathogenicrs1577992594RCV000806616; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559220255592202AT4:g.55592202A>T-
NM_000222.3(KIT):c.1529G>A (p.Gly510Asp)3815KITUncertain significance-1RCV001361120; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559220555592205GA55592205-
NM_000222.3(KIT):c.1533C>T (p.Asn511=)3815KITLikely benignrs1232688220RCV000866259; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559220955592209CT4:g.55592209C>T-
NM_000222.3(KIT):c.1533C>A (p.Asn511Lys)3815KITUncertain significancers1232688220RCV001294378; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559220955592209CA55592209-
NM_000222.3(KIT):c.1535A>G (p.Asn512Ser)3815KITUncertain significance-1RCV001926917; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559221155592211AG55592211-
NM_000222.3(KIT):c.1536C>T (p.Asn512=)3815KITLikely benign-1RCV002097715; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559221255592212CT55592212-
NM_000222.3(KIT):c.1538A>G (p.Lys513Arg)3815KITUncertain significance-1RCV001367128; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559221455592214AG55592214-
NM_000222.3(KIT):c.1539A>G (p.Lys513=)3815KITUncertain significancers1560416214RCV000690128; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559221555592215AG4:g.55592215A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1540+1G>A3815KITLikely pathogenic-1RCV002011377; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559221755592217GA55592217-
NM_000222.3(KIT):c.1540+2T>C3815KITLikely pathogenicrs760183633RCV001237796; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559221855592218TC4:g.55592218T>C-
NM_000222.3(KIT):c.1540+3A>G3815KITUncertain significance-1RCV001976811; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559221955592219AG55592219-
NM_000222.3(KIT):c.1540+6T>C3815KITUncertain significancers1722199031RCV001210481; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559222255592222TC4:g.55592222T>C-
NM_000222.3(KIT):c.1540+9C>A3815KITLikely benignrs1553891480RCV000633916; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559222555592225CA4:g.55592225C>AClinGen:CA658796441C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1540+14T>G3815KITLikely benign-1RCV002214765; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559223055592230TG55592230-
NC_000004.11:g.(?_55593374)_(55604723_?)dup3815KITUncertain significance-1RCV002011586; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559337455604723nana-1-
NM_000222.3(KIT):c.1541-9C>G3815KITLikely benignrs1577994237RCV000931919|RCV001476954; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559337555593375CG4:g.55593375C>G-
NM_000222.3(KIT):c.1541-8C>T3815KITLikely benignrs367739763RCV000229566; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559337655593376CTNC_000004.11:g.55593376C>TClinGen:CA2923521C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1541-7A>G3815KITLikely benignrs1577994249RCV000981455; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559337755593377AG4:g.55593377A>G-
NM_000222.3(KIT):c.1541-6T>C3815KITLikely benignrs1577994260RCV000929390|RCV001474658; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559337855593378TC4:g.55593378T>C-
NM_000222.3(KIT):c.1541-5T>C3815KITLikely benign-1RCV002143176; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559337955593379TC55593379-
NM_000222.3(KIT):c.1541-4G>A3815KITLikely benign-1RCV001496857; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559338055593380GA55593380-
NM_000222.3(KIT):c.1541-3T>C3815KITUncertain significancers1577994268RCV000803418; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559338155593381TC4:g.55593381T>C-
NM_000222.3(KIT):c.1541-1G>A3815KITLikely pathogenic-1RCV002023809; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559338355593383GA55593383-
NM_000222.3(KIT):c.1542G>A (p.Glu514=)3815KITLikely benignrs1475881614RCV000633925; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559338555593385GANC_000004.11:g.55593385G>AClinGen:CA439291154C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1545A>C (p.Gln515His)3815KITUncertain significancers1722279802RCV001064095; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559338855593388AC4:g.55593388A>C-
NM_000222.3(KIT):c.1549C>T (p.His517Tyr)3815KITUncertain significancers1577994279RCV000797914; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559339255593392CT4:g.55593392C>T-
NM_000222.3(KIT):c.1552C>T (p.Pro518Ser)3815KITUncertain significancers1560416964RCV000692754; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559339555593395CT4:g.55593395C>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)3815KITUncertain significancers569408054RCV000233403|RCV000764543|RCV001012095; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Human Phenotype Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080045559339655593396CTNC_000004.11:g.55593396C>TClinGen:CA2923522C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1554C>T (p.Pro518=)3815KITLikely benign-1RCV001473607; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559339755593397CT55593397-
NM_000222.3(KIT):c.1554C>G (p.Pro518=)3815KITLikely benign-1RCV002106732; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559339755593397CG55593397-
NM_000222.3(KIT):c.1555C>T (p.His519Tyr)3815KITUncertain significancers370364842RCV000475580; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559339855593398CTNC_000004.11:g.55593398C>TClinGen:CA2923523C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1557C>A (p.His519Gln)3815KITUncertain significancers1722281042RCV001327765; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559340055593400CA55593400-
NM_000222.3(KIT):c.1558A>G (p.Thr520Ala)3815KITUncertain significance-1RCV001927163; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559340155593401AG55593401-
NM_000222.3(KIT):c.1559C>T (p.Thr520Ile)3815KITUncertain significance-1RCV001968090; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559340255593402CT55593402-
NM_000222.3(KIT):c.1560C>T (p.Thr520=)3815KITLikely benign-1RCV002172167; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559340355593403CT55593403-
NM_000222.3(KIT):c.1564T>A (p.Phe522Ile)3815KITUncertain significance-1RCV002050069; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559340755593407TA55593407-
NM_000222.3(KIT):c.1567A>G (p.Thr523Ala)3815KITUncertain significancers1326565450RCV001049662; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559341055593410AG4:g.55593410A>G-
NM_000222.3(KIT):c.1568C>T (p.Thr523Ile)3815KITUncertain significancers772866513RCV000227249; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559341155593411CT4:g.55593411C>TClinGen:CA2923524C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1576C>T (p.Leu526=)3815KITLikely benignrs1553891660RCV000550703; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559341955593419CT4:g.55593419C>TClinGen:CA439291179C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1579A>C (p.Ile527Leu)3815KITUncertain significancers1722282395RCV001209245; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559342255593422AC4:g.55593422A>C-
NM_000222.3(KIT):c.1580T>C (p.Ile527Thr)3815KITUncertain significance-1RCV001990260; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559342355593423TC55593423-
NM_000222.3(KIT):c.1581T>G (p.Ile527Met)3815KITUncertain significance-1RCV001905956; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559342455593424TG55593424-
NM_000222.3(KIT):c.1582G>A (p.Gly528Ser)3815KITUncertain significancers1326606159RCV000526280; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559342555593425GANC_000004.11:g.55593425G>AClinGen:CA356907002C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1583G>A (p.Gly528Asp)3815KITUncertain significancers1226259110RCV000701399; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559342655593426GA4:g.55593426G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1586T>C (p.Phe529Ser)3815KITUncertain significance-1RCV001952029; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559342955593429TC55593429-
NM_000222.3(KIT):c.1586T>G (p.Phe529Cys)3815KITUncertain significance-1RCV002023975; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559342955593429TG55593429-
NM_000222.3(KIT):c.1587C>T (p.Phe529=)3815KITLikely benignrs148248559RCV000231345|RCV001012197; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559343055593430CT4:g.55593430C>TClinGen:CA2923526C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)3815KITConflicting interpretations of pathogenicityrs72550822RCV000121314|RCV000234206|RCV001012201|RCV001148177|RCV001147271|RCV001358169; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedG45559343155593431GA4:g.55593431G>AClinGen:CA160350C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1588G>C (p.Val530Leu)3815KITUncertain significance-1RCV001954137; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559343155593431GC55593431-
NM_000222.3(KIT):c.1593C>T (p.Ile531=)3815KITLikely benignrs760143011RCV000466971; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559343655593436CTNC_000004.11:g.55593436C>TClinGen:CA2923527C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1594G>A (p.Val532Ile)3815KITConflicting interpretations of pathogenicityrs55792975RCV000227916|RCV001012312|RCV001148178|RCV001148179; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45559343755593437GA4:g.55593437G>AClinGen:CA2923528,UniProtKB:P10721#VAR_042021C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1597G>A (p.Ala533Thr)3815KITUncertain significancers1722284528RCV001319112; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559344055593440GA55593440-
NM_000222.3(KIT):c.1598C>G (p.Ala533Gly)3815KITUncertain significancers753212327RCV000206315; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559344155593441CGNC_000004.11:g.55593441C>GClinGen:CA350360C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1603A>G (p.Met535Val)3815KITUncertain significance-1RCV001874708; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559344655593446AG55593446-
NM_000222.3(KIT):c.1604T>C (p.Met535Thr)3815KITUncertain significancers763411938RCV000702924|RCV001012347; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559344755593447TCNC_000004.11:g.55593447T>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1605G>A (p.Met535Ile)3815KITUncertain significance-1RCV001366134; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559344855593448GA55593448-
NM_000222.3(KIT):c.1612A>G (p.Ile538Val)3815KITUncertain significancers1560417124RCV000688566; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559345555593455AG4:g.55593455A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1613_1622del (p.Ile538fs)3815KITUncertain significancers1722286613RCV001327160; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559345655593465ATTATTGTGATA55593455-
NM_000222.3(KIT):c.1615A>G (p.Ile539Val)3815KITUncertain significancers1476093811RCV000699000; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559345855593458AG4:g.55593458A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1615A>C (p.Ile539Leu)3815KITUncertain significancers1476093811RCV001044096; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559345855593458AC4:g.55593458A>C-
NM_000222.3(KIT):c.1616T>C (p.Ile539Thr)3815KITUncertain significancers781371383RCV000473298|RCV000660489; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:9829245559345955593459TCNC_000004.11:g.55593459T>CClinGen:CA2923534C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1617T>C (p.Ile539=)3815KITLikely benignrs750491922RCV001012433|RCV001481823; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346055593460TC4:g.55593460T>C-
NM_000222.3(KIT):c.1618G>C (p.Val540Leu)3815KITUncertain significancers756179543RCV000456229|RCV001148180|RCV001148181; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Human Phenotype Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080045559346155593461GCNC_000004.11:g.55593461G>CClinGen:CA2923536C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1618G>A (p.Val540Met)3815KITUncertain significancers756179543RCV000815564; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346155593461GA4:g.55593461G>A-
NM_000222.3(KIT):c.1618G>T (p.Val540Leu)3815KITUncertain significancers756179543RCV001348069; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346155593461GT55593461-
NM_000222.3(KIT):c.1619T>C (p.Val540Ala)3815KITUncertain significance-1RCV001929154; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346255593462TC55593462-
NM_000222.3(KIT):c.1620G>A (p.Val540=)3815KITLikely benign-1RCV002209396; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346355593463GA55593463-
NM_000222.3(KIT):c.1621A>T (p.Met541Leu)3815KITLikely benignrs3822214RCV000887556|RCV001012440; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559346455593464AT4:g.55593464A>T-
NM_000222.3(KIT):c.1622T>C (p.Met541Thr)3815KITUncertain significance-1RCV002020821; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346555593465TC55593465-
NM_000222.3(KIT):c.1623G>C (p.Met541Ile)3815KITLikely benign-1RCV001472717; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346655593466GC55593466-
NM_000222.3(KIT):c.1624A>T (p.Ile542Phe)3815KITUncertain significancers1553891698RCV000527630; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346755593467ATNC_000004.11:g.55593467A>TClinGen:CA356907347C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1626T>G (p.Ile542Met)3815KITUncertain significancers1722288511RCV001323589; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559346955593469TG55593469-
NM_000222.3(KIT):c.1629G>C (p.Leu543=)3815KITLikely benign-1RCV001460363; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559347255593472GC55593472-
NM_000222.3(KIT):c.1631C>T (p.Thr544Ile)3815KITUncertain significancers1577994552RCV000822175; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559347455593474CT4:g.55593474C>T-
NM_000222.3(KIT):c.1632C>T (p.Thr544=)3815KITLikely benign-1RCV002157859; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559347555593475CT55593475-
NM_000222.3(KIT):c.1632C>G (p.Thr544=)3815KITLikely benign-1RCV002162461; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559347555593475CG55593475-
NM_000222.3(KIT):c.1635C>T (p.Tyr545=)3815KITLikely benignrs374123328RCV000904245|RCV001490058; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559347855593478CT4:g.55593478C>T-
NM_000222.3(KIT):c.1637A>G (p.Lys546Arg)3815KITUncertain significancers1722289602RCV001309791; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559348055593480AG55593480-
NM_000222.3(KIT):c.1637A>T (p.Lys546Ile)3815KITUncertain significance-1RCV001971466; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559348055593480AT55593480-
NM_000222.3(KIT):c.1638A>T (p.Lys546Asn)3815KITUncertain significancers55986963RCV000822440; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559348155593481AT4:g.55593481A>T-
NM_000222.3(KIT):c.1641T>C (p.Tyr547=)3815KITLikely benignrs746718824RCV000633861|RCV001409447; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559348455593484TC4:g.55593484T>CClinGen:CA2923540C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1647+4A>G3815KITUncertain significancers770472485RCV001324298; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559349455593494AG55593494-
NM_000222.3(KIT):c.1647+5C>A3815KITUncertain significancers553336667RCV001312658; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559349555593495CA55593495-
NM_000222.3(KIT):c.1647+5C>T3815KITUncertain significance-1RCV001863818; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559349555593495CT55593495-
NM_000222.3(KIT):c.1647+6C>A3815KITUncertain significancers1321589360RCV001294873; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559349655593496CA55593496-
NM_000222.3(KIT):c.1647+7A>C3815KITLikely benignrs1060504659RCV000460899; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559349755593497ACNC_000004.11:g.55593497A>CClinGen:CA16611504C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1647+7A>G3815KITLikely benign-1RCV002122211; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559349755593497AG55593497-
NM_000222.3(KIT):c.1647+9T>C3815KITLikely benign-1RCV001463216; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559349955593499TC55593499-
NM_000222.3(KIT):c.1647+14_1647+17del3815KITLikely benign-1RCV002212167; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559350255593505ATTTGA55593501-
NM_000222.3(KIT):c.1647+15G>T3815KITLikely benign-1RCV002153525; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559350555593505GT55593505-
NM_000222.3(KIT):c.1648-15C>T3815KITLikely benign-1RCV002215691; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559356755593567CT55593567-
NM_000222.3(KIT):c.1648-11T>C3815KITLikely benign-1RCV001985827; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559357155593571TC55593571-
NM_000222.3(KIT):c.1648-10C>T3815KITLikely benignrs1198418224RCV000921956|RCV001422485; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559357255593572CT4:g.55593572C>T-
NM_000222.3(KIT):c.1648-8C>T3815KITLikely benignrs949862921RCV000863073; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559357455593574CT4:g.55593574C>T-
NM_000222.3(KIT):c.1648-8C>G3815KITLikely benign-1RCV001436649; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559357455593574CG55593574-
NM_000222.3(KIT):c.1648-6C>T3815KITLikely benignrs1577994736RCV000868458|RCV001484577; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559357655593576CT4:g.55593576C>T-
NM_000222.3(KIT):c.1648-3C>T3815KITUncertain significance-1RCV001888664; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559357955593579CT55593579-
NM_000222.2(KIT):c.1648_1674del3815KITPathogenicrs121913234RCV000014871; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358055593606CAGAAACCCATGTATGAAGTACAGTGGACNC_000004.11:g.55593582_55593608delClinGen:CA123524,OMIM:164920.0015C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del)3815KITPathogenicrs587776804RCV000014868; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358455593598AACCCATGTATGAAGTA4:g.55593584_55593598delClinGen:CA123519,OMIM:164920.0012C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1651C>A (p.Pro551Thr)3815KITUncertain significancers1722299272RCV001039740; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358555593585CA4:g.55593585C>A-
NM_000222.3(KIT):c.1652_1672del (p.Pro551_Lys558delinsGln)3815KITLikely pathogenicrs1560417385RCV000771008; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358655593606CCCATGTATGAAGTACAGTGGACNC_000004.11:g.55593586_55593606del-
NM_000222.3(KIT):c.1652C>T (p.Pro551Leu)3815KITUncertain significancers1722299442RCV001349414; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358655593586CT55593586-
NM_000222.3(KIT):c.1653_1660delinsAA (p.Met552_Glu554delinsLys)3815KITLikely pathogenicrs1560417396RCV000771009; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358755593594CATGTATGAANC_000004.11:g.55593587_55593594delinsAA-
NM_000222.3(KIT):c.1653C>T (p.Pro551=)3815KITLikely benign-1RCV001468127; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358755593587CT55593587-
NM_000222.3(KIT):c.1654A>G (p.Met552Val)3815KITUncertain significancers777596975RCV000807746; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358855593588AG4:g.55593588A>G-
NM_000222.3(KIT):c.1654A>T (p.Met552Leu)3815KITUncertain significancers777596975RCV001040056; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358855593588AT4:g.55593588A>T-
NM_000222.3(KIT):c.1655T>C (p.Met552Thr)3815KITUncertain significancers746805825RCV000539662; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559358955593589TC4:g.55593589T>CClinGen:CA2923558C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1656G>C (p.Met552Ile)3815KITUncertain significancers1482011071RCV001034924; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559359055593590GC4:g.55593590G>C-
NM_000222.3(KIT):c.1656G>A (p.Met552Ile)3815KITUncertain significancers1482011071RCV001208702; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559359055593590GA4:g.55593590G>A-
NM_000222.3(KIT):c.1658A>G (p.Tyr553Cys)3815KITUncertain significancers1553891726RCV000552287; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559359255593592AG4:g.55593592A>GClinGen:CA356907437C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1662A>C (p.Glu554Asp)3815KITUncertain significancers1577994816RCV000800053; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559359655593596AC4:g.55593596A>C-
NM_000222.3(KIT):c.1662A>G (p.Glu554=)3815KITLikely benign-1RCV001401096; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559359655593596AG55593596-
NM_000222.3(KIT):c.1665_1672delinsCC (p.Trp557_Lys558del)3815KITLikely pathogenicrs1560417427RCV000771010; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559359955593606ACAGTGGACCNC_000004.11:g.55593599_55593606delinsCC-
NM_000222.3(KIT):c.1666C>G (p.Gln556Glu)3815KITUncertain significancers1722301014RCV001338020; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360055593600CG55593600-
NM_000222.3(KIT):c.1666C>T (p.Gln556Ter)3815KITPathogenic-1RCV001993291; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360055593600CT55593600-
NM_000222.3(KIT):c.1669_1674del (p.Trp557_Lys558del)3815KITLikely pathogenicrs869025568RCV000208566; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360155593606CAGTGGACNC_000004.11:g.55593603_55593608delClinGen:CA356974C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1668_1686del (p.Gln556_Trp557insTer)3815KITLikely pathogenicrs1560417438RCV000771011; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360255593620AGTGGAAGGTTGTTGAGGAGANC_000004.11:g.55593602_55593620del-
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg)3815KITLikely pathogenicrs121913235RCV000425331|RCV000432558|RCV000442970; NHuman Phenotype Ontology:HP:0100522,MONDO:MONDO:0006456,MeSH:D013945,MedGen:C0040100, Orphanet:99867|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0002861,Human45559360355593603TC4:g.55593603T>CClinGen:CA16602392C0025202 Cutaneous melanoma;
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly)3815KITLikely pathogenicrs121913235RCV000417409; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360355593603TG4:g.55593603T>GClinGen:CA16603140C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser)3815KITUncertain significancers1057520032RCV000438560; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360455593604GC4:g.55593604G>CClinGen:CA16603139C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1670_1671delinsTT (p.Trp557Phe)3815KITLikely pathogenicrs1057520035RCV000428828; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360455593605GGTTNC_000004.11:g.55593604_55593605delinsTTClinGen:CA16603144C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1670G>A (p.Trp557Ter)3815KITPathogenicrs1057520032RCV000541020|RCV000761057; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:C269830945559360455593604GA4:g.55593604G>AClinGen:CA356907463C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1671G>C (p.Trp557Cys)3815KITLikely pathogenicrs1057520033RCV000439662; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360555593605GC4:g.55593605G>CClinGen:CA16603142C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1672A>C (p.Lys558Gln)3815KITLikely pathogenicrs1057520031RCV000428356; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360655593606AC4:g.55593606A>CClinGen:CA16603138C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1672A>G (p.Lys558Glu)3815KITLikely pathogenicrs1057520031RCV000429441; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360655593606AG4:g.55593606A>GClinGen:CA16603141C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1674G>A (p.Lys558=)3815KITConflicting interpretations of pathogenicityrs200375589RCV000205733|RCV001012605|RCV001149739|RCV001149740; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Huma45559360855593608GA4:g.55593608G>AClinGen:CA349845C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1674G>T (p.Lys558Asn)3815KITPathogenic/Likely pathogenicrs200375589RCV000426003|RCV000436617; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007445559360855593608GT4:g.55593608G>TClinGen:CA16602394C0025202 Cutaneous melanoma;
NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del)3815KITPathogenicrs121913685RCV000014858; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360955593614GGTTGTTGNC_000004.11:g.55593610_55593615delClinGen:CA123504,OMIM:164920.0011C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1675G>A (p.Val559Ile)3815KITUncertain significancers121913520RCV000426761|RCV000436995; NMONDO:MONDO:0020076,MedGen:C1292778, Orphanet:98274|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360955593609GA4:g.55593609G>AClinGen:CA16602523C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1675G>T (p.Val559Phe)3815KITUncertain significancers121913520RCV001228656; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559360955593609GT4:g.55593609G>T-
NM_000222.3(KIT):c.1676T>A (p.Val559Asp)3815KITPathogenic/Likely pathogenicrs121913517RCV000014870|RCV000419360; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007445559361055593610TA4:g.55593610T>AClinGen:CA123522,UniProtKB:P10721#VAR_033127,OMIM:164920.0014C0025202 Cutaneous melanoma;
NM_000222.3(KIT):c.1676T>C (p.Val559Ala)3815KITPathogenic/Likely pathogenicrs121913517RCV000014879|RCV000420045|RCV000430728|RCV000437270|RCV000663345; NMedGen:C2674636|Human Phenotype Ontology:HP:0100522,MONDO:MONDO:0006456,MeSH:D013945,MedGen:C0040100, Orphanet:99867|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:45559361055593610TC4:g.55593610T>CClinGen:CA123545,UniProtKB:P10721#VAR_033126,OMIM:164920.0023C1136033 Cutaneous mastocytosis;
NM_000222.3(KIT):c.1678_1728del (p.Val560_Leu576del)3815KITUncertain significancers1553891755RCV000627073; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361055593660GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACG4:g.55593610_55593660delClinGen:CA645516864C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1676_1720del (p.Val559_Thr574delinsAla)3815KITLikely pathogenicrs1560417535RCV000771012; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361055593654GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAAGNC_000004.11:g.55593610_55593654del-
NM_000222.3(KIT):c.1677T>C (p.Val559=)3815KITLikely benign-1RCV002089189; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361155593611TC55593611-
NM_000222.3(KIT):c.1678G>A (p.Val560Ile)3815KITUncertain significancers1577994961RCV000794834; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361255593612GA4:g.55593612G>A-
NM_000222.3(KIT):c.1678G>T (p.Val560Phe)3815KITUncertain significance-1RCV001904526; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361255593612GT55593612-
NM_000222.3(KIT):c.1679_1680inv (p.Val560Glu)3815KITLikely pathogenic-1RCV000422073; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361355593614TTAANC_000004.11:g.55593613_55593614invClinGen:CA16603143C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1681G>A (p.Glu561Lys)3815KITUncertain significancers1722307003RCV001047441; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361555593615GA4:g.55593615G>A-
NM_000222.3(KIT):c.1681GAG[1] (p.Glu562del)3815KITUncertain significancers1722307508RCV001206767; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361555593617TGAGT4:g.55593615_55593617del-
NM_000222.3(KIT):c.1683G>A (p.Glu561=)3815KITLikely benign-1RCV001428394; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559361755593617GA55593617-
NM_000222.3(KIT):c.1686G>C (p.Glu562Asp)3815KITUncertain significancers1553891764RCV000633735; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362055593620GCNC_000004.11:g.55593620G>CClinGen:CA356907490C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1688T>A (p.Ile563Lys)3815KITUncertain significancers780708976RCV000553074; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362255593622TA4:g.55593622T>AClinGen:CA2923559C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1688T>C (p.Ile563Thr)3815KITUncertain significance-1RCV001931661; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362255593622TC55593622-
NM_000222.3(KIT):c.1689A>G (p.Ile563Met)3815KITUncertain significancers1553891768RCV000529216; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362355593623AG4:g.55593623A>GClinGen:CA356907497C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1690A>T (p.Asn564Tyr)3815KITUncertain significancers745463319RCV000700635; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362455593624AT4:g.55593624A>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1691A>G (p.Asn564Ser)3815KITUncertain significancers769483857RCV001206820; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362555593625AG4:g.55593625A>G-
NM_000222.3(KIT):c.1693G>A (p.Gly565Arg)3815KITUncertain significance-1RCV002004364; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362755593627GA55593627-
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)3815KITConflicting interpretations of pathogenicityrs200945282RCV000034505|RCV001080921|RCV001012676|RCV001145417|RCV001145419; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedG45559362855593628GT4:g.55593628G>TClinGen:CA215587C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1694G>A (p.Gly565Glu)3815KITUncertain significance-1RCV002002034; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559362855593628GA55593628-
NM_000222.3(KIT):c.1697A>G (p.Asn566Ser)3815KITUncertain significancers1722309800RCV001068418; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559363155593631AG4:g.55593631A>G-
NM_000222.3(KIT):c.1699A>C (p.Asn567His)3815KITUncertain significancers1722309959RCV001304482; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559363355593633AC55593633-
NM_000222.3(KIT):c.1700A>G (p.Asn567Ser)3815KITUncertain significancers1016976398RCV000546381; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559363455593634AGNC_000004.11:g.55593634A>GClinGen:CA96875766C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1700A>T (p.Asn567Ile)3815KITUncertain significancers1016976398RCV000702843; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559363455593634AT4:g.55593634A>T-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1702T>G (p.Tyr568Asp)3815KITUncertain significance-1RCV001925826; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559363655593636TG55593636-
NM_000222.3(KIT):c.1707T>C (p.Val569=)3815KITLikely benign-1RCV001451319; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559364155593641TC55593641-
NM_000222.3(KIT):c.1711A>G (p.Ile571Val)3815KITUncertain significancers587778431RCV000121315|RCV000554408; NMedGen:CN169374|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559364555593645AG4:g.55593645A>GClinGen:CA160353C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1713A>C (p.Ile571=)3815KITLikely benign-1RCV002199263; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559364755593647AC55593647-
NM_000222.3(KIT):c.1715_1756dup (p.Arg586_Asn587insAsnProThrGlnLeuProTyrAspHisLysTrpGluPhePro)3815KITLikely pathogenicrs1560417642RCV000771013; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559364855593649GGACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCANC_000004.11:g.55593649_55593690dup-
NM_000222.3(KIT):c.1718C>A (p.Pro573Gln)3815KITUncertain significance-1RCV001936463; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559365255593652CA55593652-
NM_000222.3(KIT):c.1720A>G (p.Thr574Ala)3815KITUncertain significancers1060502550RCV000464044; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559365455593654AGNC_000004.11:g.55593654A>GClinGen:CA16611506C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1721_1765dup (p.Leu589_Ser590insProGlnLeuProTyrAspHisLysTrpGluPheProArgAsnArg)3815KITLikely pathogenicrs1560417666RCV000771014; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559365455593655AACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCNC_000004.11:g.55593655_55593699dup-
NM_000222.3(KIT):c.1721C>T (p.Thr574Ile)3815KITUncertain significancers1307097576RCV000633781; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559365555593655CT4:g.55593655C>TClinGen:CA356907565C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1722_1766dup (p.Gln575_Leu589dup)3815KITLikely pathogenicrs1560417673RCV000771015; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559365555593656CCACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCTNC_000004.11:g.55593656_55593700dup-
NM_000222.3(KIT):c.1725A>G (p.Gln575=)3815KITLikely benignrs1025892108RCV000529865|RCV001012903; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559365955593659AG4:g.55593659A>GClinGen:CA96875805C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1726C>G (p.Leu576Val)3815KITUncertain significancers1313877141RCV001045417; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559366055593660CG4:g.55593660C>G-
NM_000222.3(KIT):c.1726C>T (p.Leu576Phe)3815KITUncertain significance-1RCV001970242; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559366055593660CT55593660-
NM_000222.3(KIT):c.1735_1737del (p.Asp579del)3815KITPathogenicrs1060502543RCV000458760; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559366755593669TATGTNC_000004.11:g.55593669_55593671delClinGen:CA16611553C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1734T>C (p.Tyr578=)3815KITLikely benign-1RCV001468209; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559366855593668TC55593668-
NM_000222.3(KIT):c.1737T>A (p.Asp579Glu)3815KITUncertain significancers773366034RCV000815176; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559367155593671TA4:g.55593671T>A-
NM_000222.3(KIT):c.1738C>G (p.His580Asp)3815KITUncertain significancers1437044852RCV001226360; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559367255593672CG4:g.55593672C>G-
NM_000222.3(KIT):c.1738C>T (p.His580Tyr)3815KITUncertain significancers1437044852RCV001234636; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559367255593672CT4:g.55593672C>T-
NM_000222.3(KIT):c.1749G>A (p.Glu583=)3815KITLikely benign-1RCV001430059; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559368355593683GA55593683-
NM_000222.3(KIT):c.1752T>C (p.Phe584=)3815KITLikely benignrs794726671RCV000980442; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559368655593686TC4:g.55593686T>C-
NM_000222.3(KIT):c.1760A>G (p.Asn587Ser)3815KITUncertain significancers1577995255RCV001205933; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559369455593694AG4:g.55593694A>G-
NM_000222.3(KIT):c.1761C>T (p.Asn587=)3815KITLikely benignrs1553891809RCV000546872; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559369555593695CTNC_000004.11:g.55593695C>TClinGen:CA439291286C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1764G>A (p.Arg588=)3815KITLikely benign-1RCV001502670; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559369855593698GA55593698-
NM_000222.3(KIT):c.1765C>T (p.Leu589=)3815KITUncertain significance-1RCV002029183; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559369955593699CT55593699-
NM_000222.3(KIT):c.1774+4A>G3815KITUncertain significance-1RCV001365046; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559371255593712AG55593712-
NM_000222.3(KIT):c.1774+6dup3815KITLikely benign-1RCV001435265; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559371355593714GGT55593713-
NM_000222.3(KIT):c.1774+7A>G3815KITLikely benignrs1310181400RCV000633897; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559371555593715AGNC_000004.11:g.55593715A>GClinGen:CA439291298C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1774+11A>G3815KITLikely benign-1RCV002108355; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559371955593719AG55593719-
NM_000222.3(KIT):c.1774+14A>C3815KITLikely benign-1RCV002185174; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559372255593722AC55593722-
NM_000222.3(KIT):c.1774+14_1774+15del3815KITLikely benign-1RCV002187396; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559372255593723CAGC55593721-
NM_000222.3(KIT):c.1774+14A>G3815KITLikely benign-1RCV002152578; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559372255593722AG55593722-
NM_000222.3(KIT):c.1774+17G>A3815KITLikely benign-1RCV002135576; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559372555593725GA55593725-
NM_000222.3(KIT):c.1774+19C>T3815KITLikely benign-1RCV002131748; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559372755593727CT55593727-
NM_000222.3(KIT):c.1775-17_1775-15del3815KITLikely benign-1RCV002152641; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559396855593970CTTGC55593967-
NM_000222.3(KIT):c.1775-17dup3815KITLikely benign-1RCV002093847; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559397055593971GGT55593970-
NM_000222.3(KIT):c.1775-16G>A3815KITLikely benign-1RCV002091492; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559397355593973GA55593973-
NM_000222.3(KIT):c.1775-8_1775-5del3815KITLikely benign-1RCV002113392; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559397555593978TCTTCT55593974-
NM_000222.3(KIT):c.1775-12T>G3815KITLikely benign-1RCV002014341; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559397755593977TG55593977-
NM_000222.3(KIT):c.1775-10C>A3815KITUncertain significancers1577995739RCV000800299; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559397955593979CA4:g.55593979C>A-
NM_000222.3(KIT):c.1775-8dup3815KITLikely benignrs1577995749RCV000978080|RCV001431071; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559397955593980CCT4:g.55593979_55593980insT-
NM_000222.3(KIT):c.1775-10C>T3815KITLikely benign-1RCV001468106; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559397955593979CT55593979-
NM_000222.3(KIT):c.1775-6C>T3815KITLikely benign-1RCV001466142; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559398355593983CT55593983-
NM_000222.3(KIT):c.1775-6C>G3815KITUncertain significance-1RCV001933922; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559398355593983CG55593983-
NM_000222.3(KIT):c.1775-5T>C3815KITLikely benign-1RCV002159709; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559398455593984TC55593984-
NM_000222.3(KIT):c.1775-4A>G3815KITConflicting interpretations of pathogenicityrs373072016RCV000465856|RCV001013098; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559398555593985AGNC_000004.11:g.55593985A>GClinGen:CA2923578C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1775-3C>T3815KITUncertain significance-1RCV002004040; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559398655593986CT55593986-
NM_000222.3(KIT):c.1775-2A>G3815KITLikely pathogenicrs1577995761RCV000792285; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559398755593987AG4:g.55593987A>G-
NM_000222.3(KIT):c.1775G>T (p.Gly592Val)3815KITUncertain significance-1RCV001994035; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559398955593989GT55593989-
NM_000222.3(KIT):c.1776G>A (p.Gly592=)3815KITLikely benign-1RCV002180440; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559399055593990GA55593990-
NM_000222.3(KIT):c.1780A>C (p.Thr594Pro)3815KITUncertain significance-1RCV001970981; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559399455593994AC55593994-
NM_000222.3(KIT):c.1781C>T (p.Thr594Ile)3815KITUncertain significancers375351432RCV000475124|RCV001013131|RCV001764427; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45559399555593995CTNC_000004.11:g.55593995C>TClinGen:CA2923579C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1782C>T (p.Thr594=)3815KITLikely benign-1RCV001498470; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559399655593996CT55593996-
NM_000222.3(KIT):c.1785G>A (p.Leu595=)3815KITLikely benign-1RCV001446290; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559399955593999GA55593999-
NM_000222.3(KIT):c.1789G>A (p.Ala597Thr)3815KITUncertain significancers768214921RCV000535899|RCV001013154; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559400355594003GANC_000004.11:g.55594003G>AClinGen:CA2923581C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1791T>C (p.Ala597=)3815KITLikely benignrs1186816361RCV000934646|RCV001460452; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559400555594005TC4:g.55594005T>C-
NM_000222.3(KIT):c.1794A>T (p.Gly598=)3815KITBenign/Likely benignrs72549292RCV000203967|RCV000376095|RCV000286308|RCV001567247; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Human Phenotype Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080045559400855594008ATNC_000004.11:g.55594008A>TClinGen:CA348252C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1794A>G (p.Gly598=)3815KITLikely benign-1RCV001444501; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559400855594008AG55594008-
NM_000222.3(KIT):c.1797T>C (p.Ala599=)3815KITLikely benign-1RCV002185468; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559401155594011TC55594011-
NM_000222.3(KIT):c.1800C>T (p.Phe600=)3815KITLikely benignrs138380197RCV000633870; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559401455594014CT4:g.55594014C>TClinGen:CA2923582C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1803G>A (p.Gly601=)3815KITLikely benignrs1060504661RCV000458800; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559401755594017GANC_000004.11:g.55594017G>AClinGen:CA16611508C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1810G>A (p.Val604Ile)3815KITUncertain significance-1RCV001944576; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559402455594024GA55594024-
NM_000222.3(KIT):c.1813G>A (p.Glu605Lys)3815KITUncertain significancers1722339125RCV001238077; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559402755594027GA4:g.55594027G>A-
NM_000222.3(KIT):c.1814A>C (p.Glu605Ala)3815KITUncertain significancers1553891888RCV000543814; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559402855594028AC4:g.55594028A>CClinGen:CA356907990C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1816G>A (p.Ala606Thr)3815KITUncertain significancers1577995854RCV000810403; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559403055594030GA4:g.55594030G>A-
NM_000222.3(KIT):c.1818A>C (p.Ala606=)3815KITLikely benign-1RCV002135310; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559403255594032AC55594032-
NM_000222.3(KIT):c.1821T>C (p.Thr607=)3815KITLikely benignrs1420595508RCV000868046; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559403555594035TC4:g.55594035T>C-
NM_000222.3(KIT):c.1824T>C (p.Ala608=)3815KITLikely benignrs1406480519RCV000633900; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559403855594038TC4:g.55594038T>CClinGen:CA439291350C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1830C>T (p.Gly610=)3815KITLikely benign-1RCV001500724; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559404455594044CT55594044-
NM_000222.3(KIT):c.1831T>C (p.Leu611=)3815KITLikely benignrs369412402RCV000560754|RCV001013320; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559404555594045TCNC_000004.11:g.55594045T>CClinGen:CA2923583C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1835T>C (p.Ile612Thr)3815KITUncertain significance-1RCV002023252; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559404955594049TC55594049-
NM_000222.3(KIT):c.1837A>G (p.Lys613Glu)3815KITUncertain significance-1RCV001873943; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559405155594051AG55594051-
NM_000222.3(KIT):c.1847C>T (p.Ala616Val)3815KITUncertain significancers891140054RCV000473035; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559406155594061CTNC_000004.11:g.55594061C>TClinGen:CA16611669C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1847C>A (p.Ala616Glu)3815KITUncertain significancers891140054RCV001315928; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559406155594061CA55594061-
NM_000222.3(KIT):c.1848G>A (p.Ala616=)3815KITLikely benignrs148853099RCV000233772|RCV001013404; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559406255594062GANC_000004.11:g.55594062G>AClinGen:CA2923584C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1852A>G (p.Met618Val)3815KITUncertain significance-1RCV001981396; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559406655594066AG55594066-
NM_000222.3(KIT):c.1853T>C (p.Met618Thr)3815KITUncertain significancers111466688RCV001064470; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559406755594067TC4:g.55594067T>C-
NM_000222.3(KIT):c.1854G>A (p.Met618Ile)3815KITUncertain significancers199787524RCV000536820|RCV001013352; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559406855594068GANC_000004.11:g.55594068G>AClinGen:CA2923586C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1856C>T (p.Thr619Ile)3815KITUncertain significancers1294929758RCV001067216; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559407055594070CT4:g.55594070C>T-
NM_000222.3(KIT):c.1860C>T (p.Val620=)3815KITLikely benignrs200814065RCV000228582; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559407455594074CT4:g.55594074C>TClinGen:CA2923587C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr)3815KITLikely pathogenicrs1560418178RCV000685166; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559407555594075GA4:g.55594075G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1863T>C (p.Ala621=)3815KITLikely benignrs759613218RCV000465645; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559407755594077TCNC_000004.11:g.55594077T>CClinGen:CA16611602C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1866A>G (p.Val622=)3815KITLikely benignrs1287132024RCV000633855|RCV001448762; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559408055594080AGNC_000004.11:g.55594080A>GClinGen:CA439291396C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1869G>A (p.Lys623=)3815KITLikely benignrs765239839RCV000923088; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559408355594083GA4:g.55594083G>A-
NM_000222.3(KIT):c.1873C>T (p.Leu625Phe)3815KITUncertain significance-1RCV002004409; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559408755594087CT55594087-
NM_000222.3(KIT):c.1875C>G (p.Leu625=)3815KITLikely benign-1RCV001445188; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559408955594089CG55594089-
NM_000222.3(KIT):c.1875C>T (p.Leu625=)3815KITLikely benign-1RCV002147887; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559408955594089CT55594089-
NM_000222.3(KIT):c.1876A>G (p.Lys626Glu)3815KITUncertain significancers1722343399RCV001312357; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559409055594090AG55594090-
NM_000222.3(KIT):c.1879C>A (p.Pro627Thr)3815KITUncertain significancers1032761406RCV000474974; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559409355594093CANC_000004.11:g.55594093C>AClinGen:CA16611671C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879C>T (p.Pro627Ser)3815KITUncertain significancers1032761406RCV000633832; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559409355594093CTNC_000004.11:g.55594093C>TClinGen:CA96876046C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+7T>C3815KITLikely benignrs751507194RCV000633930; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559410055594100TCNC_000004.11:g.55594100T>CClinGen:CA658796443C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+7T>A3815KITLikely benign-1RCV001411486; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559410055594100TA55594100-
NM_000222.3(KIT):c.1879+8C>G3815KITLikely benignrs1553891914RCV000548741; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559410155594101CGNC_000004.11:g.55594101C>GClinGen:CA658655852C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+8C>T3815KITLikely benign-1RCV001412421; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559410155594101CT55594101-
NM_000222.3(KIT):c.1879+10T>C3815KITLikely benignrs1553891916RCV000633851; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559410355594103TCNC_000004.11:g.55594103T>CClinGen:CA658796444C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+13A>G3815KITLikely benign-1RCV002127645; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559410655594106AG55594106-
NM_000222.3(KIT):c.1879+16G>A3815KITLikely benign-1RCV002153019; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559410955594109GA55594109-
NM_000222.3(KIT):c.1879+17T>C3815KITLikely benign-1RCV001891712; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559411055594110TC55594110-
NM_000222.3(KIT):c.1879+18A>G3815KITLikely benign-1RCV002096411; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559411155594111AG55594111-
NM_000222.3(KIT):c.1880-20A>C3815KITLikely benign-1RCV002123125; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559415755594157AC55594157-
NM_000222.3(KIT):c.1880-15T>C3815KITLikely benign-1RCV002142961; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559416255594162TC55594162-
NM_000222.3(KIT):c.1880-14G>C3815KITLikely benign-1RCV002117636; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559416355594163GC55594163-
NM_000222.3(KIT):c.1880-8A>T3815KITLikely benignrs1577996134RCV000928247|RCV001461793; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559416955594169AT4:g.55594169A>T-
NM_000222.3(KIT):c.1880-3T>C3815KITUncertain significancers1722349289RCV001319018; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559417455594174TC55594174-
NM_000222.3(KIT):c.1880C>T (p.Pro627Leu)3815KITUncertain significancers1722349520RCV001298129; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559417755594177CT55594177-
NM_000222.3(KIT):c.1881G>A (p.Pro627=)3815KITLikely benignrs971280269RCV000633863; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559417855594178GA4:g.55594178G>AClinGen:CA96876094C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1883G>A (p.Ser628Asn)3815KITUncertain significance-1RCV001995435; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559418055594180GA55594180-
NM_000222.3(KIT):c.1889A>G (p.His630Arg)3815KITUncertain significancers373554876RCV000473539|RCV001147351|RCV001145420; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899, Orphanet:98292|Human Phenotype Ontology:HP:0001044,Human Phenotype On45559418655594186AGNC_000004.11:g.55594186A>GClinGen:CA2923607C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1890T>C (p.His630=)3815KITLikely benign-1RCV001443691; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559418755594187TC55594187-
NM_000222.3(KIT):c.1891T>C (p.Leu631=)3815KITLikely benign-1RCV002171467; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559418855594188TC55594188-
NM_000222.3(KIT):c.1893G>A (p.Leu631=)3815KITLikely benignrs767511834RCV000633856; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559419055594190GANC_000004.11:g.55594190G>AClinGen:CA2923609C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1895C>T (p.Thr632Ile)3815KITUncertain significancers1553891944RCV000556564; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559419255594192CTNC_000004.11:g.55594192C>TClinGen:CA356908438C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1898A>T (p.Glu633Val)3815KITUncertain significancers1722351186RCV001309544; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559419555594195AT55594195-
NM_000222.3(KIT):c.1900C>T (p.Arg634Trp)3815KITUncertain significancers144369407RCV000459314; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559419755594197CTNC_000004.11:g.55594197C>TClinGen:CA2923610C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1900C>G (p.Arg634Gly)3815KITUncertain significancers144369407RCV001204194; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559419755594197CG4:g.55594197C>G-
NM_000222.3(KIT):c.1901G>A (p.Arg634Gln)3815KITUncertain significancers766264502RCV000537164; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559419855594198GANC_000004.11:g.55594198G>AClinGen:CA2923612C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1908C>T (p.Ala636=)3815KITLikely benignrs753610580RCV001013647|RCV001442685; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559420555594205CT4:g.55594205C>T-
NM_000222.3(KIT):c.1911C>G (p.Leu637=)3815KITLikely benignrs1375809347RCV001013665|RCV002068874; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559420855594208CG4:g.55594208C>G-
NM_000222.3(KIT):c.1912A>G (p.Met638Val)3815KITUncertain significancers1177837541RCV001058337; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559420955594209AG4:g.55594209A>G-
NM_000222.3(KIT):c.1914G>A (p.Met638Ile)3815KITUncertain significancers1722352667RCV001340847; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559421155594211GA55594211-
NM_000222.3(KIT):c.1916C>T (p.Ser639Phe)3815KITUncertain significance-1RCV001864664; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559421355594213CT55594213-
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)3815KITPathogenicrs121913512RCV000014880|RCV000418637|RCV000419318|RCV000428892|RCV000429594|RCV000436303; NMedGen:C2674636|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype O45559422155594221AG4:g.55594221A>GClinGen:CA123547,OMIM:164920.0024C0278701 Adenocarcinoma of stomach;
NM_000222.3(KIT):c.1926A>G (p.Lys642=)3815KITUncertain significance-1RCV001955434; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559422355594223AG55594223-
NM_000222.3(KIT):c.1929C>T (p.Val643=)3815KITLikely benign-1RCV001393589; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559422655594226CT55594226-
NM_000222.3(KIT):c.1932G>A (p.Leu644=)3815KITLikely benign-1RCV001399463; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559422955594229GA55594229-
NM_000222.3(KIT):c.1934G>C (p.Ser645Thr)3815KITUncertain significancers1060502566RCV000463831; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559423155594231GCNC_000004.11:g.55594231G>CClinGen:CA16611604C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1937A>G (p.Tyr646Cys)3815KITUncertain significance-1RCV002028169; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559423455594234AG55594234-
NM_000222.3(KIT):c.1941T>C (p.Leu647=)3815KITLikely benign-1RCV001431990; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559423855594238TC55594238-
NM_000222.3(KIT):c.1946A>G (p.Asn649Ser)3815KITUncertain significancers1722355003RCV001212307; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559424355594243AG4:g.55594243A>G-
NM_000222.3(KIT):c.1947T>C (p.Asn649=)3815KITLikely benignrs878853762RCV000231425; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559424455594244TCNC_000004.11:g.55594244T>CClinGen:CA10582262C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1951A>T (p.Met651Leu)3815KITUncertain significancers534209826RCV000458431; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559424855594248ATNC_000004.11:g.55594248A>TClinGen:CA2923614C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1951A>G (p.Met651Val)3815KITUncertain significancers534209826RCV001306576; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559424855594248AG55594248-
NM_000222.3(KIT):c.1952T>A (p.Met651Lys)3815KITUncertain significancers1374100918RCV001315004; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559424955594249TA55594249-
NM_000222.3(KIT):c.1952T>C (p.Met651Thr)3815KITUncertain significance-1RCV001876855; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559424955594249TC55594249-
NM_000222.3(KIT):c.1954A>C (p.Asn652His)3815KITUncertain significancers1473859499RCV001013827|RCV001297031; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559425155594251AC4:g.55594251A>C-
NM_000222.3(KIT):c.1954A>T (p.Asn652Tyr)3815KITUncertain significance-1RCV002018166; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559425155594251AT55594251-
NM_000222.3(KIT):c.1955A>G (p.Asn652Ser)3815KITUncertain significance-1RCV001366762; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559425255594252AG55594252-
NM_000222.3(KIT):c.1959T>C (p.Ile653=)3815KITLikely benignrs752271176RCV000869821|RCV001013844; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559425655594256TC4:g.55594256T>C-
NM_000222.3(KIT):c.1975G>A (p.Ala659Thr)3815KITUncertain significance-1RCV001875455; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559427255594272GA55594272-
NM_000222.3(KIT):c.1983C>T (p.Thr661=)3815KITLikely benign-1RCV001480937; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559428055594280CT55594280-
NM_000222.3(KIT):c.1984A>G (p.Ile662Val)3815KITUncertain significancers1439996385RCV000817749; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559428155594281AG4:g.55594281A>G-
NM_000222.3(KIT):c.1984A>C (p.Ile662Leu)3815KITUncertain significancers1439996385RCV001070510; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559428155594281AC4:g.55594281A>C-
NM_000222.3(KIT):c.1985T>C (p.Ile662Thr)3815KITUncertain significance-1RCV001911241; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559428255594282TC55594282-
NM_000222.3(KIT):c.1990+1del3815KITPathogenic-1RCV001965129; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559428755594287AGA55594286-
NM_000222.3(KIT):c.1990+4A>G3815KITUncertain significancers1032874703RCV000824018; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559429155594291AG4:g.55594291A>G-
NM_000222.3(KIT):c.1990+6G>C3815KITUncertain significance-1RCV001924640; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559429355594293GC55594293-
NM_000222.3(KIT):c.1990+8del3815KITLikely benign-1RCV002137580; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559429455594294GCG55594293-
NM_000222.3(KIT):c.1990+8C>T3815KITLikely benignrs377493174RCV000470240; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559429555594295CTNC_000004.11:g.55594295C>TClinGen:CA2923619C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1990+9G>A3815KITLikely benignrs757680205RCV000526202; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559429655594296GA4:g.55594296G>AClinGen:CA2923620C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1990+16A>G3815KITLikely benign-1RCV002112713; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559430355594303AG55594303-
NM_000222.3(KIT):c.1991-17_1991-13del3815KITLikely benign-1RCV002095404; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559548155595485CCTTTTC55595480-
NM_000222.3(KIT):c.1991-16T>C3815KITLikely benign-1RCV002220020; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559548555595485TC55595485-
NM_000222.3(KIT):c.1991-14T>C3815KITLikely benign-1RCV002077067; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559548755595487TC55595487-
NM_000222.3(KIT):c.1991-11T>C3815KITLikely benign-1RCV002185732; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549055595490TC55595490-
NM_000222.3(KIT):c.1991-10G>C3815KITLikely benignrs1577997814RCV000983246; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549155595491GC4:g.55595491G>C-
NM_000222.3(KIT):c.1991-10G>A3815KITLikely benign-1RCV001480580; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549155595491GA55595491-
NM_000222.3(KIT):c.1991-9T>C3815KITLikely benign-1RCV001425006; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549255595492TC55595492-
NM_000222.3(KIT):c.1991-7C>T3815KITLikely benignrs370661908RCV000538646; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549455595494CT4:g.55595494C>TClinGen:CA2923628C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1991-5T>G3815KITUncertain significancers1560419281RCV000688410; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549655595496TGNC_000004.11:g.55595496T>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1991-5T>A3815KITUncertain significancers1560419281RCV001064607; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549655595496TA4:g.55595496T>A-
NM_000222.3(KIT):c.1991-3T>C3815KITUncertain significance-1RCV001877590; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559549855595498TC55595498-
NM_000222.3(KIT):c.1998C>T (p.Thr666=)3815KITLikely benign-1RCV001393125; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559550855595508CT55595508-
NM_000222.3(KIT):c.1999C>G (p.Leu667Val)3815KITUncertain significance-1RCV001929860; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559550955595509CG55595509-
NM_000222.3(KIT):c.2001G>C (p.Leu667=)3815KITLikely benignrs766315579RCV000470526; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559551155595511GCNC_000004.11:g.55595511G>CClinGen:CA2923632C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2001G>A (p.Leu667=)3815KITLikely benign-1RCV002192914; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559551155595511GA55595511-
NM_000222.3(KIT):c.2004C>T (p.Val668=)3815KITLikely benign-1RCV001490710; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559551455595514CT55595514-
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile)3815KITLikely pathogenicrs121913516RCV000421498; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559551955595519CT4:g.55595519C>TClinGen:CA16602525C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2010A>G (p.Thr670=)3815KITLikely benign-1RCV002215535; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559552055595520AG55595520-
NM_000222.3(KIT):c.2016T>C (p.Tyr672=)3815KITLikely benignrs1060504653RCV000456538|RCV001487015; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559552655595526TCNC_000004.11:g.55595526T>CClinGen:CA16611675C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2028T>G (p.Gly676=)3815KITLikely benign-1RCV002156460; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559553855595538TG55595538-
NM_000222.3(KIT):c.2038A>G (p.Asn680Asp)3815KITUncertain significance-1RCV002050383; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559554855595548AG55595548-
NM_000222.3(KIT):c.2040T>G (p.Asn680Lys)3815KITUncertain significancers1722438930RCV001050340; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559555055595550TG4:g.55595550T>G-
NM_000222.3(KIT):c.2041T>A (p.Phe681Ile)3815KITUncertain significancers1560419344RCV000701594; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559555155595551TA4:g.55595551T>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2043T>G (p.Phe681Leu)3815KITUncertain significancers878853763RCV000228275|RCV001818566; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN16937445559555355595553TGNC_000004.11:g.55595553T>GClinGen:CA10582263C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2046G>A (p.Leu682=)3815KITLikely benign-1RCV001501959; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559555655595556GA55595556-
NM_000222.3(KIT):c.2046G>C (p.Leu682Phe)3815KITUncertain significance-1RCV002025804; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559555655595556GC55595556-
NM_000222.3(KIT):c.2050A>C (p.Arg684=)3815KITLikely benignrs1553892209RCV000633913; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559556055595560ACNC_000004.11:g.55595560A>CClinGen:CA439291587C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2052A>G (p.Arg684=)3815KITLikely benignrs1553892213RCV000551127; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559556255595562AG4:g.55595562A>GClinGen:CA439291588C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2052A>T (p.Arg684Ser)3815KITUncertain significance-1RCV002037493; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559556255595562AT55595562-
NM_000222.3(KIT):c.2056C>T (p.Arg686Cys)3815KITUncertain significancers148771698RCV000458048|RCV001014252; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559556655595566CTNC_000004.11:g.55595566C>TClinGen:CA2923637C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2057G>A (p.Arg686His)3815KITUncertain significancers143772138RCV000527116|RCV000764544|RCV001014260; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001044,Human Phenotype Ontology:HP:0007443,Human Phenotype Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080045559556755595567GANC_000004.11:g.55595567G>AClinGen:CA2923638C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2057G>T (p.Arg686Leu)3815KITUncertain significancers143772138RCV001320608; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559556755595567GT55595567-
NM_000222.3(KIT):c.2061T>C (p.Asp687=)3815KITLikely benign-1RCV001474291; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559557155595571TC55595571-
NM_000222.3(KIT):c.2062T>A (p.Ser688Thr)3815KITUncertain significance-1RCV001359352; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559557255595572TA55595572-
NM_000222.3(KIT):c.2064A>G (p.Ser688=)3815KITLikely benign-1RCV001484237; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559557455595574AG55595574-
NM_000222.3(KIT):c.2067T>A (p.Phe689Leu)3815KITUncertain significance-1RCV001360136; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559557755595577TA55595577-
NM_000222.3(KIT):c.2068A>G (p.Ile690Val)3815KITUncertain significancers924104591RCV000538990|RCV001014301; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559557855595578AGNC_000004.11:g.55595578A>GClinGen:CA96877036C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2072G>C (p.Cys691Ser)3815KITUncertain significancers35200131RCV001227094; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559558255595582GC4:g.55595582G>C-
NM_000222.3(KIT):c.2076A>G (p.Ser692=)3815KITLikely benignrs1577997993RCV001014338|RCV001411873; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559558655595586AG4:g.55595586A>G-
NM_000222.3(KIT):c.2079G>C (p.Lys693Asn)3815KITUncertain significance-1RCV001983127; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559558955595589GC55595589-
NM_000222.3(KIT):c.2080C>T (p.Gln694Ter)3815KITPathogenic-1RCV001990022; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559559055595590CT55595590-
NM_000222.3(KIT):c.2083G>C (p.Glu695Gln)3815KITUncertain significancers1277986442RCV000705472; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559559355595593GC4:g.55595593G>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2086G>A (p.Asp696Asn)3815KITUncertain significancers781588289RCV000705844; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559559655595596GANC_000004.11:g.55595596G>A-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2087A>T (p.Asp696Val)3815KITUncertain significancers1722444395RCV001228165|RCV001726455; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN51720245559559755595597AT4:g.55595597A>T-
NM_000222.3(KIT):c.2089C>T (p.His697Tyr)3815KITUncertain significancers763308199RCV000435524|RCV000477391|RCV001014390; NHuman Phenotype Ontology:HP:0100522,MONDO:MONDO:0006456,MeSH:D013945,MedGen:C0040100, Orphanet:99867|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C45559559955595599CT4:g.55595599C>TClinGen:CA2923642C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2089C>A (p.His697Asn)3815KITUncertain significancers763308199RCV001228894; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559559955595599CA4:g.55595599C>A-
NM_000222.3(KIT):c.2090A>C (p.His697Pro)3815KITUncertain significancers1414253704RCV001066310; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559560055595600AC4:g.55595600A>C-
NM_000222.3(KIT):c.2091T>C (p.His697=)3815KITLikely benignrs1473835741RCV000874033|RCV001421097; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559560155595601TC4:g.55595601T>C-
NM_000222.3(KIT):c.2092G>T (p.Ala698Ser)3815KITUncertain significance-1RCV001915411; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559560255595602GT55595602-
NM_000222.3(KIT):c.2093C>G (p.Ala698Gly)3815KITUncertain significancers780329057RCV000475396; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559560355595603CGNC_000004.11:g.55595603C>GClinGen:CA2923644C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2093C>A (p.Ala698Glu)3815KITUncertain significance-1RCV001368270; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559560355595603CA55595603-
NM_000222.3(KIT):c.2098G>A (p.Ala700Thr)3815KITUncertain significancers1722446052RCV001221004; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559560855595608GA4:g.55595608G>A-
NM_000222.3(KIT):c.2099C>T (p.Ala700Val)3815KITUncertain significancers1722446325RCV001203128; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559560955595609CT4:g.55595609C>T-
NM_000222.3(KIT):c.2100T>G (p.Ala700=)3815KITLikely benignrs1553892249RCV000633912; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561055595610TGNC_000004.11:g.55595610T>GClinGen:CA439291622C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2100T>A (p.Ala700=)3815KITLikely benign-1RCV001468365; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561055595610TA55595610-
NM_000222.3(KIT):c.2103A>G (p.Ala701=)3815KITLikely benign-1RCV001436763; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561355595613AG55595613-
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)3815KITUncertain significancers768847037RCV000458317|RCV000764545|RCV001014447; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005545559561455595614CGNC_000004.11:g.55595614C>GClinGen:CA2923646C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2104C>T (p.Leu702Phe)3815KITUncertain significancers768847037RCV001309259; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561455595614CT55595614-
NM_000222.3(KIT):c.2105T>C (p.Leu702Pro)3815KITUncertain significancers541585774RCV000470309; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561555595615TCNC_000004.11:g.55595615T>CClinGen:CA2923647C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2107T>C (p.Tyr703His)3815KITUncertain significancers746990067RCV000555979; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561755595617TC4:g.55595617T>CClinGen:CA2923648C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2108A>T (p.Tyr703Phe)3815KITUncertain significancers771012963RCV000822939; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561855595618AT4:g.55595618A>T-
NM_000222.3(KIT):c.2108A>G (p.Tyr703Cys)3815KITUncertain significance-1RCV001370889; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559561855595618AG55595618-
NM_000222.3(KIT):c.2111A>G (p.Lys704Arg)3815KITUncertain significancers1553892256RCV000532027; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559562155595621AGNC_000004.11:g.55595621A>GClinGen:CA356909794C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2113A>C (p.Asn705His)3815KITUncertain significancers1722448939RCV001348071; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559562355595623AC55595623-
NM_000222.3(KIT):c.2114A>G (p.Asn705Ser)3815KITUncertain significancers1722449103RCV001343444; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559562455595624AG55595624-
NM_000222.3(KIT):c.2116C>T (p.Leu706Phe)3815KITUncertain significancers1577998119RCV000814524; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559562655595626CT4:g.55595626C>T-
NM_000222.3(KIT):c.2118T>G (p.Leu706=)3815KITConflicting interpretations of pathogenicityrs766840704RCV000232109|RCV001014321|RCV001147352|RCV001147353; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orph45559562855595628TG4:g.55595628T>GClinGen:CA2923650C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2119_2139dup (p.Leu707_Ser713dup)3815KITUncertain significancers1722449916RCV001050921; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559562855595629TTCTGCATTCAAAGGAGTCTTCC4:g.55595628_55595629insCTGCATTCAAAGGAGTCTTCC-
NM_000222.3(KIT):c.2121G>T (p.Leu707=)3815KITLikely benignrs1577998148RCV000938847; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559563155595631GT4:g.55595631G>T-
NM_000222.3(KIT):c.2122C>T (p.His708Tyr)3815KITUncertain significancers146337870RCV000792031; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559563255595632CT4:g.55595632C>T-
NM_000222.3(KIT):c.2126C>T (p.Ser709Leu)3815KITUncertain significancers1722451112RCV001338353; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559563655595636CT55595636-
NM_000222.3(KIT):c.2127A>G (p.Ser709=)3815KITLikely benignrs1367360445RCV000876166; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559563755595637AG4:g.55595637A>G-
NM_000222.3(KIT):c.2131G>C (p.Glu711Gln)3815KITUncertain significancers1060502544RCV000465808; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564155595641GCNC_000004.11:g.55595641G>CClinGen:CA16611605C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2131G>A (p.Glu711Lys)3815KITUncertain significancers1060502544RCV001055010; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564155595641GA4:g.55595641G>A-
NM_000222.3(KIT):c.2132A>C (p.Glu711Ala)3815KITUncertain significancers374262491RCV001302016; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564255595642AC55595642-
NM_000222.3(KIT):c.2133G>A (p.Glu711=)3815KITLikely benign-1RCV001469218; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564355595643GA55595643-
NM_000222.3(KIT):c.2133G>T (p.Glu711Asp)3815KITUncertain significance-1RCV001886047; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564355595643GT55595643-
NM_000222.3(KIT):c.2134T>C (p.Ser712Pro)3815KITUncertain significance-1RCV002048176; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564455595644TC55595644-
NM_000222.3(KIT):c.2138C>A (p.Ser713Tyr)3815KITUncertain significancers775274159RCV000807273; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564855595648CA4:g.55595648C>A-
NM_000222.3(KIT):c.2138C>T (p.Ser713Phe)3815KITUncertain significancers775274159RCV001218924; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564855595648CT4:g.55595648C>T-
NM_000222.3(KIT):c.2138C>G (p.Ser713Cys)3815KITUncertain significance-1RCV001977644; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564855595648CG55595648-
NM_000222.3(KIT):c.2139C>T (p.Ser713=)3815KITLikely benign-1RCV001487282; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559564955595649CT55595649-
NM_000222.3(KIT):c.2140T>C (p.Cys714Arg)3815KITUncertain significancers1577998219RCV000801750; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559565055595650TC4:g.55595650T>C-
NM_000222.3(KIT):c.2141+3A>G3815KITUncertain significance-1RCV001909029; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559565455595654AG55595654-
NM_000222.3(KIT):c.2141+7C>T3815KITLikely benignrs1360717801RCV000539911; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559565855595658CT4:g.55595658C>TClinGen:CA551369115C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2141+9G>T3815KITLikely benign-1RCV001476201; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566055595660GT55595660-
NM_000222.3(KIT):c.2141+11T>G3815KITLikely benign-1RCV002161260; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566255595662TG55595662-
NM_000222.3(KIT):c.2141+13T>G3815KITLikely benign-1RCV002073690; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566455595664TG55595664-
NM_000222.3(KIT):c.2141+16A>G3815KITLikely benign-1RCV002166487; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566755595667AG55595667-
NM_000222.3(KIT):c.2141+19_2141+22del3815KITLikely benign-1RCV002102962; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566755595670CATAAC55595666-
NM_000222.3(KIT):c.2141+16A>T3815KITLikely benign-1RCV002129121; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566755595667AT55595667-
NM_000222.3(KIT):c.2141+17T>C3815KITLikely benign-1RCV002200426; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566855595668TC55595668-
NM_000222.3(KIT):c.2141+17del3815KITLikely benign-1RCV002219444; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566855595668ATA55595667-
NM_000222.3(KIT):c.2141+18A>C3815KITLikely benign-1RCV002075534; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559566955595669AC55595669-
NM_000222.3(KIT):c.2142-16G>A3815KITLikely benign-1RCV002218521; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559747855597478GA55597478-
NM_000222.3(KIT):c.2142-12C>A3815KITLikely benign-1RCV002074667; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559748255597482CA55597482-
NM_000222.3(KIT):c.2142-11A>G3815KITLikely benign-1RCV002152571; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559748355597483AG55597483-
NC_000004.12:g.(?_54731318)_(54738557_?)dup3815KITUncertain significance-1RCV001031573; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559748455604723nana-1-
NM_000222.3(KIT):c.2142-9C>T3815KITLikely benignrs1553892553RCV000552975|RCV001472792; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559748555597485CT4:g.55597485C>TClinGen:CA658655854C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2142-8T>C3815KITLikely benignrs1578000374RCV000940645|RCV001467191; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559748655597486TC4:g.55597486T>C-
NM_000222.3(KIT):c.2142-7C>T3815KITLikely benign-1RCV001439602; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559748755597487CT55597487-
NM_000222.3(KIT):c.2142-5C>G3815KITUncertain significancers781283523RCV001060483; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559748955597489CG4:g.55597489C>G-
NM_000222.3(KIT):c.2142-4C>A3815KITConflicting interpretations of pathogenicityrs1394807281RCV000913758|RCV001014594; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559749055597490CA4:g.55597490C>A-
NM_000222.3(KIT):c.2142-3C>G3815KITUncertain significancers1722581397RCV001058210; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559749155597491CG4:g.55597491C>G-
NM_000222.3(KIT):c.2144G>A (p.Ser715Asn)3815KITUncertain significancers56094246RCV000797120; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559749655597496GA4:g.55597496G>A-
NM_000222.3(KIT):c.2145C>T (p.Ser715=)3815KITLikely benignrs192110951RCV000475429; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559749755597497CTNC_000004.11:g.55597497C>TClinGen:CA2923670C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2146G>A (p.Asp716Asn)3815KITUncertain significancers769701248RCV000473358; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559749855597498GANC_000004.11:g.55597498G>AClinGen:CA2923671C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2146G>T (p.Asp716Tyr)3815KITUncertain significancers769701248RCV000817215; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559749855597498GT4:g.55597498G>T-
NM_000222.3(KIT):c.2147A>G (p.Asp716Gly)3815KITUncertain significancers1722582575RCV001303472; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559749955597499AG55597499-
NM_000222.3(KIT):c.2151T>C (p.Ser717=)3815KITLikely benign-1RCV001394766; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750355597503TC55597503-
NM_000222.3(KIT):c.2152A>G (p.Thr718Ala)3815KITLikely benignrs564307874RCV000533515; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750455597504AGNC_000004.11:g.55597504A>GClinGen:CA2923672C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2152_2153del (p.Ser717_Thr718insTer)3815KITPathogenicrs1560420761RCV000704576; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750455597505TACT4:g.55597504_55597505del-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2155_2157del (p.Asn719del)3815KITUncertain significance-1RCV001925939; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750655597508CTAAC55597505-
NM_000222.3(KIT):c.2154T>C (p.Thr718=)3815KITLikely benign-1RCV002082478; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750655597506TC55597506-
NM_000222.3(KIT):c.2155A>C (p.Asn719His)3815KITUncertain significancers1560420768RCV000697139; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750755597507AC4:g.55597507A>C-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2155A>G (p.Asn719Asp)3815KITUncertain significance-1RCV001888078; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750755597507AG55597507-
NM_000222.3(KIT):c.2157T>C (p.Asn719=)3815KITLikely benign-1RCV001465008; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559750955597509TC55597509-
NM_000222.3(KIT):c.2160G>A (p.Glu720=)3815KITLikely benignrs372359131RCV000545993; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751255597512GANC_000004.11:g.55597512G>AClinGen:CA2923673C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2160G>T (p.Glu720Asp)3815KITUncertain significance-1RCV001369408; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751255597512GT55597512-
NM_000222.3(KIT):c.2162A>G (p.Tyr721Cys)3815KITUncertain significance-1RCV001999227; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751455597514AG55597514-
NM_000222.3(KIT):c.2163C>T (p.Tyr721=)3815KITLikely benign-1RCV001499287; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751555597515CT55597515-
NM_000222.3(KIT):c.2164A>G (p.Met722Val)3815KITUncertain significancers1255211227RCV001063522; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751655597516AG4:g.55597516A>G-
NM_000222.3(KIT):c.2166G>A (p.Met722Ile)3815KITUncertain significancers1722584431RCV001221343; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751855597518GA4:g.55597518G>A-
NM_000222.3(KIT):c.2167G>C (p.Asp723His)3815KITUncertain significance-1RCV001982612; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751955597519GC55597519-
NM_000222.3(KIT):c.2167G>T (p.Asp723Tyr)3815KITUncertain significance-1RCV001989144; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559751955597519GT55597519-
NM_000222.3(KIT):c.2170A>G (p.Met724Val)3815KITUncertain significancers1560420790RCV000700230; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559752255597522AGNC_000004.11:g.55597522A>G-C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2175A>C (p.Lys725Asn)3815KITUncertain significancers1578000466RCV000823374; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559752755597527AC4:g.55597527A>C-
NM_000222.3(KIT):c.2179G>C (p.Gly727Arg)3815KITUncertain significancers1722585213RCV001348108; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559753155597531GC55597531-
NM_000222.3(KIT):c.2180G>T (p.Gly727Val)3815KITUncertain significancers1722585375RCV001323515; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559753255597532GT55597532-
NM_000222.3(KIT):c.2182G>A (p.Val728Ile)3815KITUncertain significance-1RCV001362248; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559753455597534GA55597534-
NM_000222.3(KIT):c.2185T>G (p.Ser729Ala)3815KITUncertain significancers773953640RCV001312353; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559753755597537TG55597537-
NM_000222.3(KIT):c.2187T>G (p.Ser729=)3815KITUncertain significance-1RCV002016133; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559753955597539TG55597539-
NM_000222.3(KIT):c.2189A>T (p.Tyr730Phe)3815KITUncertain significance-1RCV001362731; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559754155597541AT55597541-
NM_000222.3(KIT):c.2190T>C (p.Tyr730=)3815KITLikely benignrs761317949RCV000944833|RCV001487640; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559754255597542TC4:g.55597542T>C-
NM_000222.3(KIT):c.2191G>C (p.Val731Leu)3815KITUncertain significance-1RCV001366374; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559754355597543GC55597543-
NM_000222.3(KIT):c.2194G>T (p.Val732Phe)3815KITUncertain significancers1722586672RCV001203833; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559754655597546GT4:g.55597546G>T-
NM_000222.3(KIT):c.2196C>G (p.Val732=)3815KITLikely benignrs1060504655RCV000460105|RCV001394397; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559754855597548CGNC_000004.11:g.55597548C>GClinGen:CA16611560C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2196C>T (p.Val732=)3815KITLikely benign-1RCV002212083; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559754855597548CT55597548-
NM_000222.3(KIT):c.2198C>T (p.Pro733Leu)3815KITUncertain significancers992027457RCV000459555|RCV001532022; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MedGen:CN51720245559755055597550CTNC_000004.11:g.55597550C>TClinGen:CA16611677C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2201C>G (p.Thr734Ser)3815KITUncertain significance-1RCV001367151; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559755355597553CG55597553-
NM_000222.3(KIT):c.2208C>T (p.Ala736=)3815KITLikely benignrs375902940RCV000225949|RCV001014730; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016245559756055597560CTNC_000004.11:g.55597560C>TClinGen:CA2923677C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2208C>A (p.Ala736=)3815KITLikely benignrs375902940RCV000558393|RCV001482318; NMedGen:CN517202|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559756055597560CANC_000004.11:g.55597560C>AClinGen:CA439291700C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2209G>A (p.Asp737Asn)3815KITUncertain significancers751005114RCV000230062; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559756155597561GA4:g.55597561G>AClinGen:CA2923678,UniProtKB:P10721#VAR_042025C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2211C>T (p.Asp737=)3815KITLikely benignrs1578000523RCV000945167; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559756355597563CT4:g.55597563C>T-
NM_000222.3(KIT):c.2213A>G (p.Lys738Arg)3815KITUncertain significancers1578000525RCV000807780; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559756555597565AG4:g.55597565A>G-
NM_000222.3(KIT):c.2215A>G (p.Arg739Gly)3815KITUncertain significancers1722589058RCV001224244; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559756755597567AG4:g.55597567A>G-
NM_000222.3(KIT):c.2220A>G (p.Arg740=)3815KITUncertain significancers1722589766RCV001047163; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559757255597572AG4:g.55597572A>G-
NM_000222.3(KIT):c.2224G>A (p.Val742Met)3815KITUncertain significancers1303414810RCV000814941; NHuman Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:4489045559757655597576GA4:g.55597576G>A