MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Gastrointestinal Neoplasms (D005770)
Parent Node: Neoplasms, Connective Tissue (D009372)
..Starting node ..Gastrointestinal Stromal Tumors (D046152)
Child Nodes:
........Carney-Stratakis Syndrome (C564650)
........Plexosarcoma (C537517)
Sister Nodes:
..Chondroblastoma (D002804)
..Chondroma (D002812) 5
..Chondrosarcoma (D002813) 2
..Endometrial Stromal Tumors (D036821) 1
..Gastrointestinal Stromal Tumors (D046152) 2
..Giant Cell Tumors (D005870) 1
..Mastocytosis (D008415) 9
..Myofibroma (D047708)
..Myopericytoma (D000077777)
..Myxoma (D009232) 5
..Myxosarcoma (D009236)
..Neoplasms, Bone Tissue (D018213) 35
..Neoplasms, Fibrous Tissue (D018218) 33
..Oncogenic osteomalacia (C537751)
..Sarcoma, Clear Cell (D018227)
..Sarcoma, Small Cell (D018228)
..Sarcoma, Synovial (D013584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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:

Slim Mappings:

Cancer|Digestive system disease

Reference:

MedGen: D046152
MeSH: D046152
OMIM: 606764;
MSeqDR :
Genes: KIT; PDGFRA; SDHB; SDHC;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002019	Constipation
3	HP:0002015	Dysphagia NAMDC: Dysphagia
4	HP:0100723	Gastrointestinal stroma tumor
5	HP:0000953	Hyperpigmentation of the skin
6	HP:0005214	Intestinal obstruction
7	HP:0001176	Large hands
8	HP:0001067	Neurofibromas
9	HP:0003745	Sporadic
10	HP:0001025	Urticaria

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000038.6(APC):c.876G>C (p.Leu292Phe)	324	APC	Uncertain significance	rs760059672	RCV000410953\|RCV000677755\|RCV001178393\|RCV001531606;	N	MONDO: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:CN517202	5	112151233	112151233	G	C	5:g.112151233G>C	ClinGen:CA16023233	C2713442 175100 Familial adenomatous polyposis 1;
NM_016724.3(FOLR1):c.-75+161G>A	2348	FOLR1	Benign	rs2071010	RCV000144917\|RCV001618293;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:CN517202	11	71900964	71900964	G	A	NC_000011.9:g.71900964G>A	ClinGen:CA170986	C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55094349)_(55604723_?)dup	3815	KIT	Uncertain significance	-1	RCV001033072;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55094349	55604723	na	na	-1	-
NC_000004.11:g.(?_55094349)_(55604723_?)del	3815	KIT	Pathogenic	-1	RCV001941991;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55094349	55604723	na	na	-1	-
NC_000004.12:g.(?_54258759)_(54658091_?)dup	3815	KIT	Uncertain significance	-1	RCV001033167;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55124926	55524258	na	na	-1	-
NC_000004.11:g.(?_55124936)_(55604723_?)dup	3815	KIT	Uncertain significance	-1	RCV001032589;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55124936	55604723	na	na	-1	-
NC_000004.11:g.(?_55153587)_(55604733_?)dup	3815	KIT	Uncertain significance	-1	RCV000708461;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55153587	55604733	na	na		-	C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55522488)_(55604723_?)dup	3815	KIT	Uncertain significance	-1	RCV001032089;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55522488	55604723	na	na	-1	-
NC_000004.12:g.(?_54656321)_(54658091_?)dup	3815	KIT	Uncertain significance	-1	RCV001031243;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55522488	55524258	na	na	-1	-
NC_000004.11:g.(?_55524095)_(55606881_?)dup	3815	KIT	Uncertain significance	-1	RCV000469105;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524095	55606881	na	na		-	C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55524172)_(55524258_?)dup	3815	KIT	Uncertain significance	-1	RCV000799424;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524172	55524258	na	na		-
NC_000004.11:g.(?_55524172)_(55604733_?)dup	3815	KIT	Uncertain significance	-1	RCV000805902;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524172	55604733	na	na		-
NC_000004.11:g.(?_55524176)_(55604729_?)dup	3815	KIT	Uncertain significance	-1	RCV000633943;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524176	55604729	na	na		-	C0238198 606764 Gastrointestinal stroma tumor;
NC_000004.11:g.(?_55524176)_(55604729_?)del	3815	KIT	Pathogenic	-1	RCV000708063;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524176	55604729	na	na		-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.7G>C (p.Gly3Arg)	3815	KIT	Uncertain significance	rs1577898451	RCV000812772\|RCV001027043;	N	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	4	55524188	55524188	G	C	4:g.55524188G>C	-
NM_000222.3(KIT):c.8G>A (p.Gly3Asp)	3815	KIT	Uncertain significance	rs1560366535	RCV000700352;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524189	55524189	G	A	4:g.55524189G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.9C>G (p.Gly3=)	3815	KIT	Likely benign	rs755780019	RCV000633854;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524190	55524190	C	G	NC_000004.11:g.55524190C>G	ClinGen:CA2923113	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.9C>T (p.Gly3=)	3815	KIT	Uncertain significance	rs755780019	RCV000705787;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524190	55524190	C	T	NC_000004.11:g.55524190C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.10_11delinsTT (p.Ala4Phe)	3815	KIT	Uncertain significance	rs1553881759	RCV000633790;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524191	55524192	GC	TT	NC_000004.11:g.55524191_55524192delinsTT	ClinGen:CA658796437	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.10G>C (p.Ala4Pro)	3815	KIT	Uncertain significance	rs1192807264	RCV000633721;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524191	55524191	G	C	4:g.55524191G>C	ClinGen:CA356897846	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.11C>T (p.Ala4Val)	3815	KIT	Uncertain significance	rs1423062466	RCV001209803;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524192	55524192	C	T	4:g.55524192C>T	-
NM_000222.3(KIT):c.13C>G (p.Arg5Gly)	3815	KIT	Uncertain significance	rs1716939221	RCV001305274;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524194	55524194	C	G	55524194	-
NM_000222.3(KIT):c.14G>C (p.Arg5Pro)	3815	KIT	Uncertain significance	rs1716939382	RCV001223517;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524195	55524195	G	C	4:g.55524195G>C	-
NM_000222.3(KIT):c.15C>G (p.Arg5=)	3815	KIT	Likely benign	rs1357038342	RCV000551474;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524196	55524196	C	G	4:g.55524196C>G	ClinGen:CA439290310	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.15C>T (p.Arg5=)	3815	KIT	Likely benign	-1	RCV001478096;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524196	55524196	C	T	55524196	-
NM_000222.3(KIT):c.17G>A (p.Gly6Asp)	3815	KIT	Uncertain significance	rs1716939970	RCV001067043;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524198	55524198	G	A	4:g.55524198G>A	-
NM_000222.3(KIT):c.19G>A (p.Ala7Thr)	3815	KIT	Uncertain significance	rs1285711357	RCV000693196;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524200	55524200	G	A	4:g.55524200G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.19G>T (p.Ala7Ser)	3815	KIT	Uncertain significance	-1	RCV002045431;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524200	55524200	G	T	55524200	-
NM_000222.3(KIT):c.20C>T (p.Ala7Val)	3815	KIT	Uncertain significance	-1	RCV001872300;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524201	55524201	C	T	55524201	-
NM_000222.3(KIT):c.21C>G (p.Ala7=)	3815	KIT	Likely benign	-1	RCV001450859;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524202	55524202	C	G	55524202	-
NM_000222.3(KIT):c.22T>C (p.Trp8Arg)	3815	KIT	Uncertain significance	rs1577898533	RCV000812308;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524203	55524203	T	C	4:g.55524203T>C	-
NM_000222.3(KIT):c.22T>A (p.Trp8Arg)	3815	KIT	Uncertain significance	rs1577898533	RCV001218175;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524203	55524203	T	A	4:g.55524203T>A	-
NM_000222.3(KIT):c.25G>A (p.Asp9Asn)	3815	KIT	Uncertain significance	rs1476871700	RCV000633743;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524206	55524206	G	A	NC_000004.11:g.55524206G>A	ClinGen:CA356897904	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.26A>G (p.Asp9Gly)	3815	KIT	Uncertain significance	-1	RCV001963763;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524207	55524207	A	G	55524207	-
NM_000222.3(KIT):c.29T>C (p.Phe10Ser)	3815	KIT	Uncertain significance	rs1716941044	RCV001239060;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524210	55524210	T	C	4:g.55524210T>C	-
NM_000222.3(KIT):c.31C>T (p.Leu11Phe)	3815	KIT	Uncertain significance	rs934366239	RCV001221034;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524212	55524212	C	T	4:g.55524212C>T	-
NM_000222.3(KIT):c.33C>G (p.Leu11=)	3815	KIT	Uncertain significance	rs894439242	RCV001067405;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524214	55524214	C	G	4:g.55524214C>G	-
NM_000222.3(KIT):c.35G>C (p.Cys12Ser)	3815	KIT	Uncertain significance	rs1716941861	RCV001044765;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524216	55524216	G	C	4:g.55524216G>C	-
NM_000222.3(KIT):c.36C>T (p.Cys12=)	3815	KIT	Likely benign	-1	RCV001423940;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524217	55524217	C	T	55524217	-
NM_000222.3(KIT):c.37G>A (p.Val13Ile)	3815	KIT	Uncertain significance	-1	RCV001960070;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524218	55524218	G	A	55524218	-
NM_000222.3(KIT):c.44T>C (p.Leu15Pro)	3815	KIT	Uncertain significance	-1	RCV001907335;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524225	55524225	T	C	55524225	-
NM_000222.3(KIT):c.45C>T (p.Leu15=)	3815	KIT	Likely benign	rs755527973	RCV000466206;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524226	55524226	C	T	NC_000004.11:g.55524226C>T	ClinGen:CA2923115	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.45C>G (p.Leu15=)	3815	KIT	Likely benign	-1	RCV001447910;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524226	55524226	C	G	55524226	-
NM_000222.3(KIT):c.49C>G (p.Leu17Val)	3815	KIT	Uncertain significance	-1	RCV001941479;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524230	55524230	C	G	55524230	-
NM_000222.3(KIT):c.50T>C (p.Leu17Pro)	3815	KIT	Uncertain significance	rs748615975	RCV000543355\|RCV001374487;	N	Human 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:145	4	55524231	55524231	T	C	4:g.55524231T>C	ClinGen:CA356897989	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.51G>A (p.Leu17=)	3815	KIT	Likely benign	-1	RCV001481177;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524232	55524232	G	A	55524232	-
NM_000222.3(KIT):c.52C>T (p.Leu18Phe)	3815	KIT	Uncertain significance	rs370787811	RCV000470178\|RCV001023887\|RCV001764424;	N	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,MedGen:C0024899,Orph	4	55524233	55524233	C	T	NC_000004.11:g.55524233C>T	ClinGen:CA2923118	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.52C>G (p.Leu18Val)	3815	KIT	Uncertain significance	rs370787811	RCV000544864;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524233	55524233	C	G	NC_000004.11:g.55524233C>G	ClinGen:CA2923119	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.55C>A (p.Arg19Ser)	3815	KIT	Uncertain significance	-1	RCV002008895;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524236	55524236	C	A	55524236	-
NM_000222.3(KIT):c.56_57delinsTT (p.Arg19Leu)	3815	KIT	Uncertain significance	rs1577898667	RCV000811659;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524237	55524238	GC	TT	NC_000004.11:g.55524237_55524238delinsTT	-
NM_000222.3(KIT):c.56G>A (p.Arg19His)	3815	KIT	Uncertain significance	rs747253141	RCV001024428\|RCV001862287;	N	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	4	55524237	55524237	G	A	4:g.55524237G>A	-
NM_000222.3(KIT):c.57C>T (p.Arg19=)	3815	KIT	Likely benign	rs776887125	RCV000525745;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524238	55524238	C	T	4:g.55524238C>T	ClinGen:CA2923122	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.57C>G (p.Arg19=)	3815	KIT	Likely benign	-1	RCV002145380;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524238	55524238	C	G	55524238	-
NM_000222.3(KIT):c.58G>T (p.Val20Phe)	3815	KIT	Uncertain significance	rs1553881787	RCV000633811;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524239	55524239	G	T	NC_000004.11:g.55524239G>T	ClinGen:CA356898011	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.58G>A (p.Val20Ile)	3815	KIT	Uncertain significance	rs1553881787	RCV001326658;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524239	55524239	G	A	55524239	-
NM_000222.3(KIT):c.62A>G (p.Gln21Arg)	3815	KIT	Uncertain significance	rs931395990	RCV000551257\|RCV001025103;	N	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	4	55524243	55524243	A	G	4:g.55524243A>G	ClinGen:CA96859735	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.63G>A (p.Gln21=)	3815	KIT	Likely benign	-1	RCV001473060;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524244	55524244	G	A	55524244	-
NM_000222.3(KIT):c.65C>T (p.Thr22Ile)	3815	KIT	Uncertain significance	rs769943127	RCV000814947;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524246	55524246	C	T	4:g.55524246C>T	-
NM_000222.3(KIT):c.67+5_67+18dup	3815	KIT	Likely benign	-1	RCV002101864;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524249	55524250	G	GTGGGACACCGCGGC	55524249	-
NM_000222.3(KIT):c.67+3G>A	3815	KIT	Uncertain significance	rs1560366820	RCV000798878;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524251	55524251	G	A	4:g.55524251G>A	-
NM_000222.3(KIT):c.67+4G>A	3815	KIT	Benign/Likely benign	rs72550820	RCV000205729\|RCV000250016\|RCV001025554\|RCV001147073\|RCV001610525;	N	Human 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 Ontology	4	55524252	55524252	G	A	NC_000004.11:g.55524252G>A	ClinGen:CA349841	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.67+5G>T	3815	KIT	Uncertain significance	rs1553881794	RCV000633848;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524253	55524253	G	T	NC_000004.11:g.55524253G>T	ClinGen:CA658796438	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.67+7C>G	3815	KIT	Likely benign	rs1577898767	RCV000944191\|RCV001435943;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524255	55524255	C	G	4:g.55524255C>G	-
NM_000222.3(KIT):c.67+8A>G	3815	KIT	Likely benign	-1	RCV001400315;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524256	55524256	A	G	55524256	-
NM_000222.3(KIT):c.67+10del	3815	KIT	Likely benign	rs1577898781	RCV000936788\|RCV001449250;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524257	55524257	AC	A	4:g.55524257_55524257del	-
NM_000222.3(KIT):c.67+9C>A	3815	KIT	Likely benign	rs377340910	RCV000933740\|RCV001395813;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524257	55524257	C	A	4:g.55524257C>A	-
NM_000222.3(KIT):c.67+9C>T	3815	KIT	Likely benign	-1	RCV001444806;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524257	55524257	C	T	55524257	-
NM_000222.3(KIT):c.67+10C>T	3815	KIT	Likely benign	rs1577898787	RCV000925076;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524258	55524258	C	T	4:g.55524258C>T	-
NM_000222.3(KIT):c.67+11G>A	3815	KIT	Likely benign	-1	RCV001912632;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524259	55524259	G	A	55524259	-
NM_000222.3(KIT):c.67+12C>T	3815	KIT	Conflicting interpretations of pathogenicity	rs374618962	RCV001147074\|RCV001147075\|RCV001147076;	N	Human 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 On	4	55524260	55524260	C	T	4:g.55524260C>T	-
NM_000222.3(KIT):c.67+19C>T	3815	KIT	Uncertain significance	-1	RCV001923266;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55524267	55524267	C	T	55524267	-
NM_000222.3(KIT):c.68-21_68-19del	3815	KIT	Likely benign	-1	RCV002170341;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561656	55561658	CACG	C	55561655	-
NM_000222.3(KIT):c.68-20G>A	3815	KIT	Likely benign	-1	RCV002160123;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561658	55561658	G	A	55561658	-
NM_000222.3(KIT):c.68-19A>G	3815	KIT	Likely benign	-1	RCV002167502;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561659	55561659	A	G	55561659	-
NM_000222.3(KIT):c.68-19A>T	3815	KIT	Likely benign	-1	RCV002105820;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561659	55561659	A	T	55561659	-
NM_000222.3(KIT):c.68-18T>C	3815	KIT	Likely benign	-1	RCV002162872;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561660	55561660	T	C	55561660	-
NM_000222.3(KIT):c.68-17T>A	3815	KIT	Likely benign	-1	RCV002140369;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561661	55561661	T	A	55561661	-
NM_000222.3(KIT):c.68-15T>G	3815	KIT	Likely benign	-1	RCV002220988;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561663	55561663	T	G	55561663	-
NM_000222.3(KIT):c.68-15T>C	3815	KIT	Likely benign	-1	RCV002206526;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561663	55561663	T	C	55561663	-
NC_000004.11:g.(?_55561668)_(55604733_?)dup	3815	KIT	Uncertain significance	-1	RCV000812684;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561668	55604733	na	na		-
NM_000222.3(KIT):c.68-10T>G	3815	KIT	Likely benign	-1	RCV001485936;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561668	55561668	T	G	55561668	-
NC_000004.11:g.(?_55561668)_(55604723_?)dup	3815	KIT	Uncertain significance	-1	RCV001908010;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561668	55604723	na	na	-1	-
NM_000222.3(KIT):c.68-10T>C	3815	KIT	Likely benign	-1	RCV002183079;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561668	55561668	T	C	55561668	-
NM_000222.3(KIT):c.68-8C>G	3815	KIT	Uncertain significance	rs776271778	RCV000704269;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561670	55561670	C	G	NC_000004.11:g.55561670C>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.68-8C>T	3815	KIT	Likely benign	rs776271778	RCV000976375\|RCV001456057;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561670	55561670	C	T	4:g.55561670C>T	-
NM_000222.3(KIT):c.68-4G>T	3815	KIT	Likely benign	-1	RCV002098153;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561674	55561674	G	T	55561674	-
NM_000222.3(KIT):c.68-3C>T	3815	KIT	Uncertain significance	-1	RCV001936566;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561675	55561675	C	T	55561675	-
NM_000222.3(KIT):c.69C>T (p.Gly23=)	3815	KIT	Likely benign	rs1060502541	RCV000462451;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561679	55561679	C	T	NC_000004.11:g.55561679C>T	ClinGen:CA16611507	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.70T>C (p.Ser24Pro)	3815	KIT	Uncertain significance	rs1719995693	RCV001320416;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561680	55561680	T	C	55561680	-
NM_000222.3(KIT):c.71C>G (p.Ser24Cys)	3815	KIT	Uncertain significance	rs1577952322	RCV000822651;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561681	55561681	C	G	4:g.55561681C>G	-
NM_000222.3(KIT):c.72T>G (p.Ser24=)	3815	KIT	Likely benign	rs1577952329	RCV000980589\|RCV001476527;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561682	55561682	T	G	4:g.55561682T>G	-
NM_000222.3(KIT):c.76C>G (p.Gln26Glu)	3815	KIT	Uncertain significance	rs759129060	RCV001036232;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561686	55561686	C	G	4:g.55561686C>G	-
NM_000222.3(KIT):c.77A>G (p.Gln26Arg)	3815	KIT	Uncertain significance	rs1560393066	RCV000703052;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561687	55561687	A	G	4:g.55561687A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.78A>C (p.Gln26His)	3815	KIT	Uncertain significance	rs764782713	RCV001063511\|RCV001147077\|RCV001147078;	N	Human 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:C00800	4	55561688	55561688	A	C	4:g.55561688A>C	-
NM_000222.3(KIT):c.79C>T (p.Pro27Ser)	3815	KIT	Uncertain significance	rs1553887242	RCV000558903;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561689	55561689	C	T	NC_000004.11:g.55561689C>T	ClinGen:CA356896803	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.80C>T (p.Pro27Leu)	3815	KIT	Uncertain significance	rs1307431391	RCV000792200;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561690	55561690	C	T	4:g.55561690C>T	-
NM_000222.3(KIT):c.81A>T (p.Pro27=)	3815	KIT	Likely benign	-1	RCV001465922;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561691	55561691	A	T	55561691	-
NM_000222.3(KIT):c.82T>C (p.Ser28Pro)	3815	KIT	Uncertain significance	rs1330171716	RCV001057161;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561692	55561692	T	C	4:g.55561692T>C	-
NM_000222.3(KIT):c.84T>C (p.Ser28=)	3815	KIT	Likely benign	rs758868843	RCV000530413\|RCV001017924;	N	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	4	55561694	55561694	T	C	4:g.55561694T>C	ClinGen:CA2923154	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.86T>A (p.Val29Glu)	3815	KIT	Uncertain significance	rs864622699	RCV000204661;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561696	55561696	T	A	NC_000004.11:g.55561696T>A	ClinGen:CA348866	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.86T>C (p.Val29Ala)	3815	KIT	Uncertain significance	-1	RCV001942420;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561696	55561696	T	C	55561696	-
NM_000222.3(KIT):c.89G>T (p.Ser30Ile)	3815	KIT	Uncertain significance	rs926559231	RCV000697580;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561699	55561699	G	T	NC_000004.11:g.55561699G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.90T>A (p.Ser30Arg)	3815	KIT	Uncertain significance	-1	RCV001955217;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561700	55561700	T	A	55561700	-
NM_000222.3(KIT):c.91C>A (p.Pro31Thr)	3815	KIT	Uncertain significance	rs1431394530	RCV000556799;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561701	55561701	C	A	4:g.55561701C>A	ClinGen:CA356896824	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.91C>G (p.Pro31Ala)	3815	KIT	Uncertain significance	rs1431394530	RCV000796723;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561701	55561701	C	G	4:g.55561701C>G	-
NM_000222.3(KIT):c.95G>A (p.Gly32Glu)	3815	KIT	Uncertain significance	rs1719999027	RCV001326361;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561705	55561705	G	A	55561705	-
NM_000222.3(KIT):c.96G>A (p.Gly32=)	3815	KIT	Likely benign	rs1577952444	RCV000931441\|RCV001430602;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561706	55561706	G	A	4:g.55561706G>A	-
NM_000222.3(KIT):c.97G>A (p.Glu33Lys)	3815	KIT	Uncertain significance	rs1553887257	RCV000633760;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561707	55561707	G	A	4:g.55561707G>A	ClinGen:CA356896836	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.101C>A (p.Pro34Gln)	3815	KIT	Uncertain significance	rs55755457	RCV000121319\|RCV001303956;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561711	55561711	C	A	4:g.55561711C>A	ClinGen:CA160365	CN169374 not specified;
NM_000222.3(KIT):c.101C>T (p.Pro34Leu)	3815	KIT	Conflicting interpretations of pathogenicity	rs55755457	RCV000459377\|RCV001009720\|RCV001198851;	N	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\|MONDO:MONDO:0005447,MedGen:C0153594	4	55561711	55561711	C	T	NC_000004.11:g.55561711C>T	ClinGen:CA2923156	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.102G>A (p.Pro34=)	3815	KIT	Likely benign	rs757725466	RCV000234158;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561712	55561712	G	A	4:g.55561712G>A	ClinGen:CA2923157	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.106C>T (p.Pro36Ser)	3815	KIT	Uncertain significance	rs781633384	RCV000633807;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561716	55561716	C	T	NC_000004.11:g.55561716C>T	ClinGen:CA2923158	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.106C>A (p.Pro36Thr)	3815	KIT	Uncertain significance	rs781633384	RCV001301325;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561716	55561716	C	A	55561716	-
NM_000222.3(KIT):c.108_109insT (p.Pro37fs)	3815	KIT	Pathogenic	rs1553887262	RCV000544616;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561718	55561719	A	AT	4:g.55561718_55561719insT	ClinGen:CA658655845	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.120_123dup (p.Gly42fs)	3815	KIT	Pathogenic	-1	RCV001806546\|RCV001885249;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561718	55561719	A	ACCAT	55561718	-
NM_000222.3(KIT):c.112T>A (p.Ser38Thr)	3815	KIT	Uncertain significance	-1	RCV002045037;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561722	55561722	T	A	55561722	-
NM_000222.3(KIT):c.115A>G (p.Ile39Val)	3815	KIT	Uncertain significance	rs1298190443	RCV001318034;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561725	55561725	A	G	55561725	-
NM_000222.3(KIT):c.119A>G (p.His40Arg)	3815	KIT	Uncertain significance	rs373374682	RCV001238035;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561729	55561729	A	G	4:g.55561729A>G	-
NM_000222.3(KIT):c.122C>T (p.Pro41Leu)	3815	KIT	Uncertain significance	-1	RCV001893255;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561732	55561732	C	T	55561732	-
NM_000222.3(KIT):c.123A>T (p.Pro41=)	3815	KIT	Benign/Likely benign	rs72549300	RCV000203968\|RCV001010502\|RCV001147079\|RCV001147967;	N	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,MedGen:C0024899,Orph	4	55561733	55561733	A	T	NC_000004.11:g.55561733A>T	ClinGen:CA348253	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.123A>G (p.Pro41=)	3815	KIT	Likely benign	rs72549300	RCV000633865;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561733	55561733	A	G	4:g.55561733A>G	ClinGen:CA439408971	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.125G>A (p.Gly42Glu)	3815	KIT	Uncertain significance	rs746856550	RCV000633768;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561735	55561735	G	A	4:g.55561735G>A	ClinGen:CA356896891	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.127A>G (p.Lys43Glu)	3815	KIT	Uncertain significance	rs770727656	RCV000814006;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561737	55561737	A	G	4:g.55561737A>G	-
NM_000222.3(KIT):c.132A>T (p.Ser44=)	3815	KIT	Likely benign	-1	RCV001421703;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561742	55561742	A	T	55561742	-
NM_000222.3(KIT):c.133G>A (p.Asp45Asn)	3815	KIT	Uncertain significance	rs1560393232	RCV000697963;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561743	55561743	G	A	NC_000004.11:g.55561743G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.135C>A (p.Asp45Glu)	3815	KIT	Uncertain significance	rs1060502551	RCV000471093;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561745	55561745	C	A	NC_000004.11:g.55561745C>A	ClinGen:CA16611512	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.140T>C (p.Ile47Thr)	3815	KIT	Uncertain significance	rs776395578	RCV000809607;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561750	55561750	T	C	4:g.55561750T>C	-
NM_000222.3(KIT):c.144C>T (p.Val48=)	3815	KIT	Likely benign	rs1328080691	RCV000940867\|RCV001459612;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561754	55561754	C	T	4:g.55561754C>T	-
NM_000222.3(KIT):c.145C>T (p.Arg49Cys)	3815	KIT	Uncertain significance	rs759250095	RCV001240294;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561755	55561755	C	T	4:g.55561755C>T	-
NM_000222.3(KIT):c.146G>A (p.Arg49His)	3815	KIT	Uncertain significance	rs376469897	RCV000537272;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561756	55561756	G	A	4:g.55561756G>A	ClinGen:CA2923168	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.146G>C (p.Arg49Pro)	3815	KIT	Uncertain significance	rs376469897	RCV000689320;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561756	55561756	G	C	NC_000004.11:g.55561756G>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.147C>T (p.Arg49=)	3815	KIT	Likely benign	rs72549301	RCV000474248\|RCV001011798;	N	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	4	55561757	55561757	C	T	NC_000004.11:g.55561757C>T	ClinGen:CA2923170	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.147C>G (p.Arg49=)	3815	KIT	Likely benign	rs72549301	RCV000983635;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561757	55561757	C	G	4:g.55561757C>G	-
NM_000222.3(KIT):c.147C>A (p.Arg49=)	3815	KIT	Likely benign	-1	RCV001448704;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561757	55561757	C	A	55561757	-
NM_000222.3(KIT):c.148G>T (p.Val50Leu)	3815	KIT	Uncertain significance	rs200950545	RCV000471765\|RCV001011866\|RCV001147968\|RCV001147969;	N	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 Ontology:HP:0007443,Huma	4	55561758	55561758	G	T	NC_000004.11:g.55561758G>T	ClinGen:CA2923171	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.148G>A (p.Val50Met)	3815	KIT	Uncertain significance	rs200950545	RCV000544811;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561758	55561758	G	A	4:g.55561758G>A	ClinGen:CA2923172	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.148G>C (p.Val50Leu)	3815	KIT	Uncertain significance	rs200950545	RCV001239274;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561758	55561758	G	C	4:g.55561758G>C	-
NM_000222.3(KIT):c.151G>A (p.Gly51Ser)	3815	KIT	Uncertain significance	rs1720006705	RCV001237684;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561761	55561761	G	A	4:g.55561761G>A	-
NM_000222.3(KIT):c.152G>A (p.Gly51Asp)	3815	KIT	Uncertain significance	-1	RCV001931803;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561762	55561762	G	A	55561762	-
NM_000222.3(KIT):c.153C>T (p.Gly51=)	3815	KIT	Likely benign	rs147363921	RCV000538076\|RCV001011993;	N	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	4	55561763	55561763	C	T	4:g.55561763C>T	ClinGen:CA2923173	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.154G>A (p.Asp52Asn)	3815	KIT	Conflicting interpretations of pathogenicity	rs121913505	RCV000422536\|RCV000456243\|RCV001012079;	N	Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764	4	55561764	55561764	G	A	4:g.55561764G>A	ClinGen:CA2923175	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.156C>T (p.Asp52=)	3815	KIT	Likely benign	rs942280887	RCV000633893;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561766	55561766	C	T	NC_000004.11:g.55561766C>T	ClinGen:CA96845639	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.157G>A (p.Glu53Lys)	3815	KIT	Uncertain significance	rs780349712	RCV001034729;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561767	55561767	G	A	4:g.55561767G>A	-
NM_000222.3(KIT):c.159G>C (p.Glu53Asp)	3815	KIT	Uncertain significance	rs749431345	RCV000534305\|RCV001012300;	N	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	4	55561769	55561769	G	C	4:g.55561769G>C	ClinGen:CA2923178	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.159G>T (p.Glu53Asp)	3815	KIT	Uncertain significance	rs749431345	RCV001222247;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561769	55561769	G	T	4:g.55561769G>T	-
NM_000222.3(KIT):c.160A>G (p.Ile54Val)	3815	KIT	Uncertain significance	rs1560393393	RCV000686046;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561770	55561770	A	G	NC_000004.11:g.55561770A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.162T>G (p.Ile54Met)	3815	KIT	Uncertain significance	-1	RCV001870890;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561772	55561772	T	G	55561772	-
NM_000222.3(KIT):c.164G>A (p.Arg55Lys)	3815	KIT	Uncertain significance	rs1720008828	RCV001045648;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561774	55561774	G	A	4:g.55561774G>A	-
NM_000222.3(KIT):c.166C>T (p.Leu56=)	3815	KIT	Likely benign	rs1060504651	RCV000458375\|RCV001414795;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561776	55561776	C	T	NC_000004.11:g.55561776C>T	ClinGen:CA16611574	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.168G>C (p.Leu56=)	3815	KIT	Likely benign	-1	RCV001491493;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561778	55561778	G	C	55561778	-
NM_000222.3(KIT):c.168G>A (p.Leu56=)	3815	KIT	Likely benign	-1	RCV002164378;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561778	55561778	G	A	55561778	-
NM_000222.3(KIT):c.171A>G (p.Leu57=)	3815	KIT	Likely benign	-1	RCV001413816;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561781	55561781	A	G	55561781	-
NM_000222.3(KIT):c.174C>T (p.Cys58=)	3815	KIT	Likely benign	-1	RCV002207070;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561784	55561784	C	T	55561784	-
NM_000222.3(KIT):c.175A>G (p.Thr59Ala)	3815	KIT	Uncertain significance	rs747004948	RCV001248560;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561785	55561785	A	G	4:g.55561785A>G	-
NM_000222.3(KIT):c.177T>C (p.Thr59=)	3815	KIT	Likely benign	rs1553887306	RCV000559293;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561787	55561787	T	C	4:g.55561787T>C	ClinGen:CA439409054	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.181C>T (p.Pro61Ser)	3815	KIT	Uncertain significance	rs1720010283	RCV001048663;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561791	55561791	C	T	4:g.55561791C>T	-
NM_000222.3(KIT):c.182C>T (p.Pro61Leu)	3815	KIT	Uncertain significance	rs557317141	RCV000465406\|RCV001013340;	N	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	4	55561792	55561792	C	T	NC_000004.11:g.55561792C>T	ClinGen:CA2923182	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.183G>A (p.Pro61=)	3815	KIT	Uncertain significance	rs745640513	RCV000806913;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561793	55561793	G	A	4:g.55561793G>A	-
NM_000222.3(KIT):c.183G>C (p.Pro61=)	3815	KIT	Likely benign	-1	RCV001465460;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561793	55561793	G	C	55561793	-
NM_000222.3(KIT):c.185G>A (p.Gly62Asp)	3815	KIT	Uncertain significance	rs1720011052	RCV001052498;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561795	55561795	G	A	4:g.55561795G>A	-
NM_000222.3(KIT):c.188T>C (p.Phe63Ser)	3815	KIT	Uncertain significance	-1	RCV002032339;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561798	55561798	T	C	55561798	-
NM_000222.3(KIT):c.192C>G (p.Val64=)	3815	KIT	Likely benign	-1	RCV002081176;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561802	55561802	C	G	55561802	-
NM_000222.3(KIT):c.193A>G (p.Lys65Glu)	3815	KIT	Uncertain significance	rs1407600939	RCV000700293;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561803	55561803	A	G	NC_000004.11:g.55561803A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.194A>T (p.Lys65Ile)	3815	KIT	Uncertain significance	rs1560393475	RCV001222773;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561804	55561804	A	T	4:g.55561804A>T	-
NM_000222.3(KIT):c.194A>G (p.Lys65Arg)	3815	KIT	Uncertain significance	-1	RCV001877877;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561804	55561804	A	G	55561804	-
NM_000222.3(KIT):c.195A>G (p.Lys65=)	3815	KIT	Likely benign	rs200121443	RCV000463427;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561805	55561805	A	G	NC_000004.11:g.55561805A>G	ClinGen:CA2923185	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.199A>G (p.Thr67Ala)	3815	KIT	Uncertain significance	-1	RCV001993967;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561809	55561809	A	G	55561809	-
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	3815	KIT	Conflicting interpretations of pathogenicity	rs144933028	RCV000234428\|RCV000282556\|RCV000332028\|RCV000503289\|RCV000764541\|RCV001014023\|RCV001535624\|RCV001753684;	N	Human 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 On	4	55561810	55561810	C	G	NC_000004.11:g.55561810C>G	ClinGen:CA2923187	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.203T>C (p.Phe68Ser)	3815	KIT	Uncertain significance	-1	RCV001372555;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561813	55561813	T	C	55561813	-
NM_000222.3(KIT):c.208A>T (p.Ile70Phe)	3815	KIT	Uncertain significance	rs1577952856	RCV000810823;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561818	55561818	A	T	4:g.55561818A>T	-
NM_000222.3(KIT):c.210C>T (p.Ile70=)	3815	KIT	Likely benign	rs866645500	RCV000927007\|RCV001411765;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561820	55561820	C	T	4:g.55561820C>T	-
NM_000222.3(KIT):c.211C>T (p.Leu71=)	3815	KIT	Likely benign	-1	RCV002153004;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561821	55561821	C	T	55561821	-
NM_000222.3(KIT):c.214G>T (p.Asp72Tyr)	3815	KIT	Uncertain significance	rs1210962059	RCV001214614;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561824	55561824	G	T	4:g.55561824G>T	-
NM_000222.3(KIT):c.221C>T (p.Thr74Met)	3815	KIT	Uncertain significance	rs147943899	RCV000633764;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561831	55561831	C	T	4:g.55561831C>T	ClinGen:CA2923189	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.222G>A (p.Thr74=)	3815	KIT	Likely benign	rs762453840	RCV000469247;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561832	55561832	G	A	NC_000004.11:g.55561832G>A	ClinGen:CA2923190	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.230A>G (p.Asn77Ser)	3815	KIT	Uncertain significance	rs371353189	RCV000633733;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561840	55561840	A	G	4:g.55561840A>G	ClinGen:CA2923191	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.231T>C (p.Asn77=)	3815	KIT	Likely benign	-1	RCV002217708;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561841	55561841	T	C	55561841	-
NM_000222.3(KIT):c.233A>G (p.Lys78Arg)	3815	KIT	Uncertain significance	rs1720015087	RCV001050169;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561843	55561843	A	G	4:g.55561843A>G	-
NM_000222.3(KIT):c.234G>A (p.Lys78=)	3815	KIT	Likely benign	-1	RCV001439789;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561844	55561844	G	A	55561844	-
NM_000222.3(KIT):c.237G>T (p.Gln79His)	3815	KIT	Uncertain significance	rs1720015461	RCV001039807;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561847	55561847	G	T	4:g.55561847G>T	-
NM_000222.3(KIT):c.239A>G (p.Asn80Ser)	3815	KIT	Uncertain significance	rs1268194684	RCV000701498;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561849	55561849	A	G	4:g.55561849A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.240T>A (p.Asn80Lys)	3815	KIT	Uncertain significance	rs1553887329	RCV000548771;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561850	55561850	T	A	NC_000004.11:g.55561850T>A	ClinGen:CA356897141	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.243A>G (p.Glu81=)	3815	KIT	Likely benign	-1	RCV001415536;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561853	55561853	A	G	55561853	-
NM_000222.3(KIT):c.249C>A (p.Ile83=)	3815	KIT	Likely benign	-1	RCV002198177;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561859	55561859	C	A	55561859	-
NM_000222.3(KIT):c.249C>T (p.Ile83=)	3815	KIT	Likely benign	-1	RCV002147942;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561859	55561859	C	T	55561859	-
NM_000222.3(KIT):c.250A>T (p.Thr84Ser)	3815	KIT	Uncertain significance	rs1060502560	RCV000464890\|RCV001015768;	N	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	4	55561860	55561860	A	T	NC_000004.11:g.55561860A>T	ClinGen:CA16611579	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.250A>G (p.Thr84Ala)	3815	KIT	Uncertain significance	-1	RCV002038182;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561860	55561860	A	G	55561860	-
NM_000222.3(KIT):c.251C>T (p.Thr84Met)	3815	KIT	Benign/Likely benign	rs201872586	RCV000233785\|RCV000501837\|RCV001015830;	N	Human 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	4	55561861	55561861	C	T	NC_000004.11:g.55561861C>T	ClinGen:CA2923193	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.251C>A (p.Thr84Lys)	3815	KIT	Uncertain significance	rs201872586	RCV001327909;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561861	55561861	C	A	55561861	-
NM_000222.3(KIT):c.252G>T (p.Thr84=)	3815	KIT	Benign/Likely benign	rs56411694	RCV000205017\|RCV000251240\|RCV000283816\|RCV000408377\|RCV001015853\|RCV001706201;	N	Human 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,Hu	4	55561862	55561862	G	T	4:g.55561862G>T	ClinGen:CA349187	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.252G>A (p.Thr84=)	3815	KIT	Conflicting interpretations of pathogenicity	rs56411694	RCV000458149\|RCV001149524\|RCV001149525;	N	Human 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 On	4	55561862	55561862	G	A	NC_000004.11:g.55561862G>A	ClinGen:CA2923194	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.256A>G (p.Lys86Glu)	3815	KIT	Uncertain significance	rs1720017544	RCV001314982;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561866	55561866	A	G	55561866	-
NM_000222.3(KIT):c.261A>G (p.Ala87=)	3815	KIT	Likely benign	-1	RCV002119601;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561871	55561871	A	G	55561871	-
NM_000222.3(KIT):c.265G>A (p.Ala89Thr)	3815	KIT	Uncertain significance	-1	RCV001982389;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561875	55561875	G	A	55561875	-
NM_000222.3(KIT):c.269C>A (p.Thr90Asn)	3815	KIT	Uncertain significance	rs1720018880	RCV001237620;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561879	55561879	C	A	4:g.55561879C>A	-
NM_000222.3(KIT):c.273C>T (p.Asn91=)	3815	KIT	Likely benign	-1	RCV002146968;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561883	55561883	C	T	55561883	-
NM_000222.3(KIT):c.274A>G (p.Thr92Ala)	3815	KIT	Uncertain significance	rs1560393612	RCV000706828;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561884	55561884	A	G	4:g.55561884A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.274A>T (p.Thr92Ser)	3815	KIT	Uncertain significance	rs1560393612	RCV001224223;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561884	55561884	A	T	4:g.55561884A>T	-
NM_000222.3(KIT):c.275C>G (p.Thr92Ser)	3815	KIT	Uncertain significance	rs1720019762	RCV001322597;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561885	55561885	C	G	55561885	-
NM_000222.3(KIT):c.276C>T (p.Thr92=)	3815	KIT	Likely benign	-1	RCV001418833;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561886	55561886	C	T	55561886	-
NM_000222.3(KIT):c.277G>A (p.Gly93Ser)	3815	KIT	Uncertain significance	rs1720020252	RCV001221241;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561887	55561887	G	A	4:g.55561887G>A	-
NM_000222.3(KIT):c.281A>G (p.Lys94Arg)	3815	KIT	Uncertain significance	rs904550523	RCV000465596;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561891	55561891	A	G	NC_000004.11:g.55561891A>G	ClinGen:CA16611517	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.285C>T (p.Tyr95=)	3815	KIT	Likely benign	rs779113666	RCV000874105\|RCV001016799;	N	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	4	55561895	55561895	C	T	4:g.55561895C>T	-
NM_000222.3(KIT):c.287C>T (p.Thr96Met)	3815	KIT	Uncertain significance	rs1060502564	RCV000468787\|RCV001016873;	N	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	4	55561897	55561897	C	T	NC_000004.11:g.55561897C>T	ClinGen:CA16611580	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.287C>A (p.Thr96Lys)	3815	KIT	Uncertain significance	rs1060502564	RCV001314739;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561897	55561897	C	A	55561897	-
NM_000222.3(KIT):c.288G>A (p.Thr96=)	3815	KIT	Likely benign	rs150026676	RCV000459973\|RCV001016881;	N	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	4	55561898	55561898	G	A	NC_000004.11:g.55561898G>A	ClinGen:CA2923197	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.288G>C (p.Thr96=)	3815	KIT	Likely benign	-1	RCV001408324;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561898	55561898	G	C	55561898	-
NM_000222.3(KIT):c.291C>T (p.Cys97=)	3815	KIT	Likely benign	-1	RCV001394043;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561901	55561901	C	T	55561901	-
NM_000222.3(KIT):c.292A>T (p.Thr98Ser)	3815	KIT	Uncertain significance	rs1060502567	RCV000457161;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561902	55561902	A	T	NC_000004.11:g.55561902A>T	ClinGen:CA16611518	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.293C>A (p.Thr98Asn)	3815	KIT	Uncertain significance	rs1577953102	RCV000793935;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561903	55561903	C	A	4:g.55561903C>A	-
NM_000222.3(KIT):c.293C>T (p.Thr98Ile)	3815	KIT	Uncertain significance	-1	RCV001978635;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561903	55561903	C	T	55561903	-
NM_000222.3(KIT):c.294C>T (p.Thr98=)	3815	KIT	Likely benign	rs959320112	RCV000535749;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561904	55561904	C	T	4:g.55561904C>T	ClinGen:CA96845840	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.294C>G (p.Thr98=)	3815	KIT	Likely benign	-1	RCV001416945;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561904	55561904	C	G	55561904	-
NM_000222.3(KIT):c.297C>T (p.Asn99=)	3815	KIT	Conflicting interpretations of pathogenicity	rs768599276	RCV000231785\|RCV001017756\|RCV001762516;	N	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,MedGen:C0024899,Orph	4	55561907	55561907	C	T	4:g.55561907C>T	ClinGen:CA2923198	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.300A>G (p.Lys100=)	3815	KIT	Likely benign	-1	RCV002148841;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561910	55561910	A	G	55561910	-
NM_000222.3(KIT):c.302A>G (p.His101Arg)	3815	KIT	Uncertain significance	rs1274601103	RCV000548226\|RCV000764542\|RCV001018180;	N	Human 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:C00800	4	55561912	55561912	A	G	4:g.55561912A>G	ClinGen:CA356897283	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.303C>T (p.His101=)	3815	KIT	Likely benign	rs145333060	RCV000633860;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561913	55561913	C	T	4:g.55561913C>T	ClinGen:CA2923200	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.303C>G (p.His101Gln)	3815	KIT	Uncertain significance	rs145333060	RCV001322117;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561913	55561913	C	G	55561913	-
NM_000222.3(KIT):c.304G>A (p.Gly102Ser)	3815	KIT	Uncertain significance	rs769632130	RCV000528217;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561914	55561914	G	A	4:g.55561914G>A	ClinGen:CA2923201	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.310A>G (p.Ser104Gly)	3815	KIT	Uncertain significance	rs1060502559	RCV000464639;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561920	55561920	A	G	NC_000004.11:g.55561920A>G	ClinGen:CA16611485	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.316T>G (p.Ser106Ala)	3815	KIT	Uncertain significance	rs1720024166	RCV001223756;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561926	55561926	T	G	4:g.55561926T>G	-
NM_000222.3(KIT):c.317C>T (p.Ser106Phe)	3815	KIT	Uncertain significance	-1	RCV002030472;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561927	55561927	C	T	55561927	-
NM_000222.3(KIT):c.319A>G (p.Ile107Val)	3815	KIT	Uncertain significance	-1	RCV001998095;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561929	55561929	A	G	55561929	-
NM_000222.3(KIT):c.324T>C (p.Tyr108=)	3815	KIT	Likely benign	rs1553887353	RCV000633909;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561934	55561934	T	C	NC_000004.11:g.55561934T>C	ClinGen:CA439409249	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.325G>A (p.Val109Met)	3815	KIT	Uncertain significance	rs1720025321	RCV001201456;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561935	55561935	G	A	4:g.55561935G>A	-
NM_000222.3(KIT):c.330T>C (p.Phe110=)	3815	KIT	Likely benign	-1	RCV001500885;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561940	55561940	T	C	55561940	-
NM_000222.3(KIT):c.337+1_337+8dup	3815	KIT	Likely benign	-1	RCV001454065;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561947	55561948	G	GGTAAATGC	55561947	-
NM_000222.3(KIT):c.337+7G>T	3815	KIT	Likely benign	-1	RCV001447012;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561954	55561954	G	T	55561954	-
NM_000222.3(KIT):c.337+9T>G	3815	KIT	Likely benign	rs1553887358	RCV000633874;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561956	55561956	T	G	4:g.55561956T>G	ClinGen:CA658796439	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.337+10del	3815	KIT	Likely benign	-1	RCV001393598;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561956	55561956	CT	C	55561955	-
NM_000222.3(KIT):c.337+10T>C	3815	KIT	Likely benign	-1	RCV001473563;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561957	55561957	T	C	55561957	-
NM_000222.3(KIT):c.337+14_337+15delinsGC	3815	KIT	Likely benign	-1	RCV002198494;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561961	55561962	TT	GC	55561961	-
NM_000222.3(KIT):c.337+18del	3815	KIT	Likely benign	-1	RCV002180916;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561965	55561965	CT	C	55561964	-
NM_000222.3(KIT):c.337+19G>A	3815	KIT	Likely benign	-1	RCV002080774;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55561966	55561966	G	A	55561966	-
NM_000222.3(KIT):c.338-19_338-13del	3815	KIT	Likely benign	-1	RCV002180512;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564428	55564434	TGATTTTG	T	55564427	-
NM_000222.3(KIT):c.338-17T>C	3815	KIT	Likely benign	-1	RCV002202949;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564433	55564433	T	C	55564433	-
NM_000222.3(KIT):c.338-16G>A	3815	KIT	Uncertain significance	-1	RCV002011024;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564434	55564434	G	A	55564434	-
NM_000222.3(KIT):c.338-14A>G	3815	KIT	Uncertain significance	-1	RCV001881301;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564436	55564436	A	G	55564436	-
NM_000222.3(KIT):c.338-10G>T	3815	KIT	Likely benign	rs1577956522	RCV000980670;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564440	55564440	G	T	4:g.55564440G>T	-
NM_000222.3(KIT):c.338-8T>A	3815	KIT	Uncertain significance	rs1720215706	RCV001042841;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564442	55564442	T	A	4:g.55564442T>A	-
NM_000222.3(KIT):c.338-6dup	3815	KIT	Uncertain significance	-1	RCV002008829;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564443	55564444	T	TC	55564443	-
NM_000222.3(KIT):c.338-6C>T	3815	KIT	Likely benign	-1	RCV001436893;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564444	55564444	C	T	55564444	-
NM_000222.3(KIT):c.338-6C>G	3815	KIT	Uncertain significance	-1	RCV001944766;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564444	55564444	C	G	55564444	-
NM_000222.3(KIT):c.338-5T>G	3815	KIT	Uncertain significance	-1	RCV001372423;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564445	55564445	T	G	55564445	-
NM_000222.3(KIT):c.338-4A>T	3815	KIT	Likely benign	rs878853766	RCV000226678;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564446	55564446	A	T	4:g.55564446A>T	ClinGen:CA10582250	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.338-4A>G	3815	KIT	Likely benign	rs878853766	RCV000540669;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564446	55564446	A	G	4:g.55564446A>G	ClinGen:CA551651611	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.338-3T>C	3815	KIT	Uncertain significance	rs1577956540	RCV000793986;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564447	55564447	T	C	4:g.55564447T>C	-
NM_000222.3(KIT):c.340C>G (p.Pro114Ala)	3815	KIT	Uncertain significance	rs772836939	RCV000553135;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564452	55564452	C	G	4:g.55564452C>G	ClinGen:CA96847748	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.340C>A (p.Pro114Thr)	3815	KIT	Uncertain significance	rs772836939	RCV001340509;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564452	55564452	C	A	55564452	-
NM_000222.3(KIT):c.343G>A (p.Ala115Thr)	3815	KIT	Uncertain significance	rs1560395513	RCV000686976;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564455	55564455	G	A	NC_000004.11:g.55564455G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.344C>T (p.Ala115Val)	3815	KIT	Uncertain significance	rs1577956572	RCV000802895;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564456	55564456	C	T	4:g.55564456C>T	-
NM_000222.3(KIT):c.345C>T (p.Ala115=)	3815	KIT	Likely benign	-1	RCV001498519;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564457	55564457	C	T	55564457	-
NM_000222.3(KIT):c.348G>T (p.Lys116Asn)	3815	KIT	Uncertain significance	-1	RCV001878549;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564460	55564460	G	T	55564460	-
NM_000222.3(KIT):c.349C>A (p.Leu117Ile)	3815	KIT	Uncertain significance	rs189660852	RCV000473138;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564461	55564461	C	A	NC_000004.11:g.55564461C>A	ClinGen:CA2923229	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.354C>T (p.Phe118=)	3815	KIT	Likely benign	rs1352598333	RCV000940869;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564466	55564466	C	T	4:g.55564466C>T	-
NM_000222.3(KIT):c.355C>G (p.Leu119Val)	3815	KIT	Uncertain significance	rs1553887690	RCV000524580;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564467	55564467	C	G	4:g.55564467C>G	ClinGen:CA356897409	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.362A>T (p.Asp121Val)	3815	KIT	Uncertain significance	-1	RCV002003032;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564474	55564474	A	T	55564474	-
NM_000222.3(KIT):c.363C>T (p.Asp121=)	3815	KIT	Likely benign	rs1553887693	RCV000633880;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564475	55564475	C	T	NC_000004.11:g.55564475C>T	ClinGen:CA439408862	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.364del (p.Arg122fs)	3815	KIT	Pathogenic	-1	RCV001903587;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564475	55564475	AC	A	55564474	-
NM_000222.3(KIT):c.365G>A (p.Arg122His)	3815	KIT	Uncertain significance	-1	RCV001910975;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564477	55564477	G	A	55564477	-
NM_000222.3(KIT):c.366_369del (p.Ser123fs)	3815	KIT	Pathogenic	-1	RCV001999796;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564478	55564481	GCTCC	G	55564477	-
NM_000222.3(KIT):c.368C>T (p.Ser123Phe)	3815	KIT	Uncertain significance	rs371303702	RCV000467961;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564480	55564480	C	T	NC_000004.11:g.55564480C>T	ClinGen:CA2923231	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.369C>T (p.Ser123=)	3815	KIT	Likely benign	-1	RCV001395334;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564481	55564481	C	T	55564481	-
NM_000222.3(KIT):c.372G>A (p.Leu124=)	3815	KIT	Benign	rs775690281	RCV000466471;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564484	55564484	G	A	NC_000004.11:g.55564484G>A	ClinGen:CA2923232	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.385G>C (p.Asp129His)	3815	KIT	Uncertain significance	rs1720220156	RCV001347655;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564497	55564497	G	C	55564497	-
NM_000222.3(KIT):c.386A>G (p.Asp129Gly)	3815	KIT	Uncertain significance	rs948408318	RCV001324504;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564498	55564498	A	G	55564498	-
NM_000222.3(KIT):c.387C>G (p.Asp129Glu)	3815	KIT	Uncertain significance	rs763100661	RCV001226355;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564499	55564499	C	G	4:g.55564499C>G	-
NM_000222.3(KIT):c.388A>G (p.Asn130Asp)	3815	KIT	Uncertain significance	rs764213036	RCV000542136\|RCV001021361;	N	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	4	55564500	55564500	A	G	4:g.55564500A>G	ClinGen:CA2923234	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.389del (p.Asn130fs)	3815	KIT	Pathogenic	rs1560395607	RCV000689579;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564500	55564500	CA	C	NC_000004.11:g.55564501del	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.390C>T (p.Asn130=)	3815	KIT	Likely benign	rs575926270	RCV000633936;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564502	55564502	C	T	NC_000004.11:g.55564502C>T	ClinGen:CA2923235	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.390C>G (p.Asn130Lys)	3815	KIT	Uncertain significance	-1	RCV001930353;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564502	55564502	C	G	55564502	-
NM_000222.3(KIT):c.391G>A (p.Asp131Asn)	3815	KIT	Uncertain significance	rs1044091916	RCV000471351\|RCV001021437;	N	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	4	55564503	55564503	G	A	NC_000004.11:g.55564503G>A	ClinGen:CA16611486	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.393C>T (p.Asp131=)	3815	KIT	Likely benign	rs1208138500	RCV000633852\|RCV001451170;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564505	55564505	C	T	4:g.55564505C>T	ClinGen:CA439408897	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.394A>G (p.Thr132Ala)	3815	KIT	Uncertain significance	-1	RCV001361502;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564506	55564506	A	G	55564506	-
NM_000222.3(KIT):c.395C>T (p.Thr132Met)	3815	KIT	Uncertain significance	rs766253584	RCV000633796;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564507	55564507	C	T	4:g.55564507C>T	ClinGen:CA2923237	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.396G>T (p.Thr132=)	3815	KIT	Likely benign	rs149172424	RCV000229606;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564508	55564508	G	T	4:g.55564508G>T	ClinGen:CA10582251	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.396G>A (p.Thr132=)	3815	KIT	Likely benign	rs149172424	RCV000554595;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564508	55564508	G	A	4:g.55564508G>A	ClinGen:CA2923238	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.397C>G (p.Leu133Val)	3815	KIT	Uncertain significance	rs1060502542	RCV000466315;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564509	55564509	C	G	NC_000004.11:g.55564509C>G	ClinGen:CA16611529	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.402C>T (p.Val134=)	3815	KIT	Likely benign	-1	RCV002135354;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564514	55564514	C	T	55564514	-
NM_000222.3(KIT):c.403C>T (p.Arg135Cys)	3815	KIT	Uncertain significance	rs754738766	RCV000693967;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564515	55564515	C	T	4:g.55564515C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.404G>A (p.Arg135His)	3815	KIT	Uncertain significance	rs1174814949	RCV000791908;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564516	55564516	G	A	4:g.55564516G>A	-
NM_000222.3(KIT):c.406T>C (p.Cys136Arg)	3815	KIT	Conflicting interpretations of pathogenicity	rs1720223149	RCV001307962\|RCV001786471;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:CN517202	4	55564518	55564518	T	C	55564518	-
NM_000222.3(KIT):c.414C>T (p.Leu138=)	3815	KIT	Likely benign	-1	RCV002211437;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564526	55564526	C	T	55564526	-
NM_000222.3(KIT):c.424G>C (p.Glu142Gln)	3815	KIT	Uncertain significance	-1	RCV001889847;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564536	55564536	G	C	55564536	-
NM_000222.3(KIT):c.425A>C (p.Glu142Ala)	3815	KIT	Uncertain significance	rs1553887714	RCV000530638;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564537	55564537	A	C	4:g.55564537A>C	ClinGen:CA356897558	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.426A>G (p.Glu142=)	3815	KIT	Likely benign	-1	RCV001410463;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564538	55564538	A	G	55564538	-
NM_000222.3(KIT):c.430A>G (p.Thr144Ala)	3815	KIT	Uncertain significance	rs758120380	RCV000543092;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564542	55564542	A	G	4:g.55564542A>G	ClinGen:CA2923242	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.430A>T (p.Thr144Ser)	3815	KIT	Uncertain significance	rs758120380	RCV000799794;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564542	55564542	A	T	4:g.55564542A>T	-
NM_000222.3(KIT):c.431C>T (p.Thr144Ile)	3815	KIT	Uncertain significance	-1	RCV001367157;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564543	55564543	C	T	55564543	-
NM_000222.3(KIT):c.432C>T (p.Thr144=)	3815	KIT	Likely benign	-1	RCV001422227;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564544	55564544	C	T	55564544	-
NM_000222.3(KIT):c.434A>G (p.Asn145Ser)	3815	KIT	Uncertain significance	rs1003144287	RCV000465370;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564546	55564546	A	G	NC_000004.11:g.55564546A>G	ClinGen:CA16611530	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.434A>C (p.Asn145Thr)	3815	KIT	Uncertain significance	-1	RCV002020200;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564546	55564546	A	C	55564546	-
NM_000222.3(KIT):c.441C>T (p.Ser147=)	3815	KIT	Likely benign	-1	RCV001452120;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564553	55564553	C	T	55564553	-
NM_000222.3(KIT):c.443T>C (p.Leu148Pro)	3815	KIT	Uncertain significance	rs1720225274	RCV001232162;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564555	55564555	T	C	4:g.55564555T>C	-
NM_000222.3(KIT):c.444C>T (p.Leu148=)	3815	KIT	Likely benign	rs544555667	RCV000878843;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564556	55564556	C	T	4:g.55564556C>T	-
NM_000222.3(KIT):c.444C>G (p.Leu148=)	3815	KIT	Likely benign	rs544555667	RCV000921509\|RCV001451639;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564556	55564556	C	G	4:g.55564556C>G	-
NM_000222.3(KIT):c.446A>G (p.Lys149Arg)	3815	KIT	Uncertain significance	rs1237279460	RCV000633849;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564558	55564558	A	G	4:g.55564558A>G	ClinGen:CA356897604	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.450G>A (p.Gly150=)	3815	KIT	Likely benign	-1	RCV001391700;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564562	55564562	G	A	55564562	-
NM_000222.3(KIT):c.454C>G (p.Gln152Glu)	3815	KIT	Uncertain significance	rs145053429	RCV001067916;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564566	55564566	C	G	4:g.55564566C>G	-
NM_000222.3(KIT):c.455A>G (p.Gln152Arg)	3815	KIT	Uncertain significance	rs1720226498	RCV001296321;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564567	55564567	A	G	55564567	-
NM_000222.3(KIT):c.458G>A (p.Gly153Glu)	3815	KIT	Uncertain significance	rs1720226841	RCV001236701;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564570	55564570	G	A	4:g.55564570G>A	-
NM_000222.3(KIT):c.463C>T (p.Pro155Ser)	3815	KIT	Uncertain significance	rs777031731	RCV000232388;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564575	55564575	C	T	NC_000004.11:g.55564575C>T	ClinGen:CA2923246	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.464C>T (p.Pro155Leu)	3815	KIT	Conflicting interpretations of pathogenicity	rs367719489	RCV000210894\|RCV000456468\|RCV001022842\|RCV001145219\|RCV001145220;	N	MedGen: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 Ontology	4	55564576	55564576	C	T	4:g.55564576C>T	ClinGen:CA358329	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.466C>A (p.Leu156Ile)	3815	KIT	Uncertain significance	rs878853767	RCV000226299;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564578	55564578	C	A	4:g.55564578C>A	ClinGen:CA10582252	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.466C>T (p.Leu156Phe)	3815	KIT	Uncertain significance	rs878853767	RCV001050059;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564578	55564578	C	T	4:g.55564578C>T	-
NM_000222.3(KIT):c.469C>G (p.Pro157Ala)	3815	KIT	Uncertain significance	rs1276125047	RCV000818552;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564581	55564581	C	G	4:g.55564581C>G	-
NM_000222.3(KIT):c.472A>G (p.Lys158Glu)	3815	KIT	Uncertain significance	-1	RCV001899707;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564584	55564584	A	G	55564584	-
NM_000222.3(KIT):c.473A>T (p.Lys158Met)	3815	KIT	Uncertain significance	rs775817289	RCV000704258;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564585	55564585	A	T	4:g.55564585A>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.473A>G (p.Lys158Arg)	3815	KIT	Uncertain significance	-1	RCV001931067;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564585	55564585	A	G	55564585	-
NM_000222.3(KIT):c.475G>C (p.Asp159His)	3815	KIT	Uncertain significance	rs1720228389	RCV001326091;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564587	55564587	G	C	55564587	-
NM_000222.3(KIT):c.478T>A (p.Leu160Met)	3815	KIT	Uncertain significance	rs763226471	RCV001053174;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564590	55564590	T	A	4:g.55564590T>A	-
NM_000222.3(KIT):c.480G>C (p.Leu160Phe)	3815	KIT	Uncertain significance	rs1201516128	RCV000554951;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564592	55564592	G	C	NC_000004.11:g.55564592G>C	ClinGen:CA356897675	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.481A>C (p.Arg161=)	3815	KIT	Likely benign	rs1577956931	RCV000940264;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564593	55564593	A	C	4:g.55564593A>C	-
NM_000222.3(KIT):c.482G>A (p.Arg161Lys)	3815	KIT	Uncertain significance	rs764280416	RCV000633758;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564594	55564594	G	A	4:g.55564594G>A	ClinGen:CA2923250	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.483G>A (p.Arg161=)	3815	KIT	Likely benign	-1	RCV002209276;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564595	55564595	G	A	55564595	-
NM_000222.3(KIT):c.484T>G (p.Phe162Val)	3815	KIT	Uncertain significance	rs201222895	RCV000034507\|RCV001852696;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564596	55564596	T	G	4:g.55564596T>G	ClinGen:CA215593	CN517202 not provided;
NM_000222.3(KIT):c.484T>C (p.Phe162Leu)	3815	KIT	Uncertain significance	rs201222895	RCV001212231;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564596	55564596	T	C	4:g.55564596T>C	-
NM_000222.3(KIT):c.488T>G (p.Ile163Ser)	3815	KIT	Uncertain significance	-1	RCV002038709;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564600	55564600	T	G	55564600	-
NM_000222.3(KIT):c.491C>A (p.Pro164His)	3815	KIT	Uncertain significance	rs1720230009	RCV001247168;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564603	55564603	C	A	4:g.55564603C>A	-
NM_000222.3(KIT):c.492T>C (p.Pro164=)	3815	KIT	Likely benign	-1	RCV002187082;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564604	55564604	T	C	55564604	-
NM_000222.3(KIT):c.493G>C (p.Asp165His)	3815	KIT	Uncertain significance	rs1280787320	RCV001039567;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564605	55564605	G	C	4:g.55564605G>C	-
NM_000222.3(KIT):c.495C>T (p.Asp165=)	3815	KIT	Likely benign	-1	RCV002110715;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564607	55564607	C	T	55564607	-
NM_000222.3(KIT):c.497C>T (p.Pro166Leu)	3815	KIT	Uncertain significance	rs1720230405	RCV001246550;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564609	55564609	C	T	4:g.55564609C>T	-
NM_000222.3(KIT):c.498C>G (p.Pro166=)	3815	KIT	Likely benign	rs761831851	RCV000980917;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564610	55564610	C	G	4:g.55564610C>G	-
NM_000222.3(KIT):c.498C>T (p.Pro166=)	3815	KIT	Likely benign	-1	RCV002076257;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564610	55564610	C	T	55564610	-
NM_000222.3(KIT):c.500A>G (p.Lys167Arg)	3815	KIT	Uncertain significance	rs1720230800	RCV001308862;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564612	55564612	A	G	55564612	-
NM_000222.3(KIT):c.501G>A (p.Lys167=)	3815	KIT	Likely benign	rs767567085	RCV000530977;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564613	55564613	G	A	4:g.55564613G>A	ClinGen:CA2923253	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.502G>A (p.Ala168Thr)	3815	KIT	Uncertain significance	rs200851152	RCV000697358;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564614	55564614	G	A	4:g.55564614G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.503C>T (p.Ala168Val)	3815	KIT	Likely benign	rs149092990	RCV000121321\|RCV000466526\|RCV001023457;	N	MedGen: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	4	55564615	55564615	C	T	4:g.55564615C>T	ClinGen:CA160371	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.503C>A (p.Ala168Glu)	3815	KIT	Uncertain significance	rs149092990	RCV001338795;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564615	55564615	C	A	55564615	-
NM_000222.3(KIT):c.504G>A (p.Ala168=)	3815	KIT	Likely benign	rs140469176	RCV000230203\|RCV001023475\|RCV001818567;	N	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:CN169374	4	55564616	55564616	G	A	NC_000004.11:g.55564616G>A	ClinGen:CA2923255	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.504G>C (p.Ala168=)	3815	KIT	Likely benign	-1	RCV001427322;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564616	55564616	G	C	55564616	-
NM_000222.3(KIT):c.508A>G (p.Ile170Val)	3815	KIT	Uncertain significance	rs1394659716	RCV000698787;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564620	55564620	A	G	4:g.55564620A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.512T>C (p.Met171Thr)	3815	KIT	Uncertain significance	rs752511532	RCV001318259;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564624	55564624	T	C	55564624	-
NM_000222.3(KIT):c.516C>T (p.Ile172=)	3815	KIT	Likely benign	rs1060504656	RCV000463700;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564628	55564628	C	T	NC_000004.11:g.55564628C>T	ClinGen:CA16611487	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.517A>C (p.Lys173Gln)	3815	KIT	Uncertain significance	rs1720232627	RCV001295288;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564629	55564629	A	C	55564629	-
NM_000222.3(KIT):c.521G>C (p.Ser174Thr)	3815	KIT	Uncertain significance	rs758171174	RCV000560870;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564633	55564633	G	C	4:g.55564633G>C	ClinGen:CA2923257	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.522T>C (p.Ser174=)	3815	KIT	Likely benign	rs145993517	RCV000536919;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564634	55564634	T	C	NC_000004.11:g.55564634T>C	ClinGen:CA2923258	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.523G>A (p.Val175Met)	3815	KIT	Uncertain significance	-1	RCV002038000;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564635	55564635	G	A	55564635	-
NM_000222.3(KIT):c.527A>G (p.Lys176Arg)	3815	KIT	Uncertain significance	-1	RCV001987505;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564639	55564639	A	G	55564639	-
NM_000222.3(KIT):c.528A>G (p.Lys176=)	3815	KIT	Likely benign	rs532461931	RCV000903871;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564640	55564640	A	G	4:g.55564640A>G	-
NM_000222.3(KIT):c.531C>T (p.Arg177=)	3815	KIT	Likely benign	rs756722358	RCV000467825;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564643	55564643	C	T	NC_000004.11:g.55564643C>T	ClinGen:CA2923260	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.532G>T (p.Ala178Ser)	3815	KIT	Uncertain significance	-1	RCV001901304;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564644	55564644	G	T	55564644	-
NM_000222.3(KIT):c.533C>T (p.Ala178Val)	3815	KIT	Uncertain significance	-1	RCV002046637;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564645	55564645	C	T	55564645	-
NM_000222.3(KIT):c.542G>A (p.Arg181Gln)	3815	KIT	Uncertain significance	rs1720234301	RCV001213357;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564654	55564654	G	A	4:g.55564654G>A	-
NM_000222.3(KIT):c.543G>C (p.Arg181=)	3815	KIT	Likely benign	rs746419269	RCV000473082\|RCV001024111;	N	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	4	55564655	55564655	G	C	NC_000004.11:g.55564655G>C	ClinGen:CA2923261	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.544C>G (p.Leu182Val)	3815	KIT	Uncertain significance	rs1720234665	RCV001348263;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564656	55564656	C	G	55564656	-
NM_000222.3(KIT):c.546C>T (p.Leu182=)	3815	KIT	Likely benign	rs1577957110	RCV000925919\|RCV001482377;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564658	55564658	C	T	4:g.55564658C>T	-
NM_000222.3(KIT):c.549T>C (p.Cys183=)	3815	KIT	Likely benign	rs1553887762	RCV000557260;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564661	55564661	T	C	4:g.55564661T>C	ClinGen:CA439409321	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.550C>A (p.Leu184Met)	3815	KIT	Uncertain significance	rs1577957143	RCV000822470;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564662	55564662	C	A	4:g.55564662C>A	-
NM_000222.3(KIT):c.554A>G (p.His185Arg)	3815	KIT	Uncertain significance	-1	RCV001878440;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564666	55564666	A	G	55564666	-
NM_000222.3(KIT):c.555T>C (p.His185=)	3815	KIT	Likely benign	rs1227095960	RCV000537249;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564667	55564667	T	C	4:g.55564667T>C	ClinGen:CA439409333	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.555T>G (p.His185Gln)	3815	KIT	Uncertain significance	rs1227095960	RCV001225730;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564667	55564667	T	G	4:g.55564667T>G	-
NM_000222.3(KIT):c.563T>C (p.Val188Ala)	3815	KIT	Uncertain significance	rs1553887765	RCV000633730;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564675	55564675	T	C	NC_000004.11:g.55564675T>C	ClinGen:CA356897939	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.567C>A (p.Asp189Glu)	3815	KIT	Uncertain significance	rs1720236336	RCV001063337;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564679	55564679	C	A	4:g.55564679C>A	-
NM_000222.3(KIT):c.568C>T (p.Gln190Ter)	3815	KIT	Pathogenic	rs1720236510	RCV001221093;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564680	55564680	C	T	4:g.55564680C>T	-
NM_000222.3(KIT):c.569A>G (p.Gln190Arg)	3815	KIT	Uncertain significance	rs1060502547	RCV000477210;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564681	55564681	A	G	NC_000004.11:g.55564681A>G	ClinGen:CA16611531	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.569A>T (p.Gln190Leu)	3815	KIT	Uncertain significance	rs1060502547	RCV001348154;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564681	55564681	A	T	55564681	-
NM_000222.3(KIT):c.570G>A (p.Gln190=)	3815	KIT	Likely benign	-1	RCV001435437;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564682	55564682	G	A	55564682	-
NM_000222.3(KIT):c.571G>C (p.Glu191Gln)	3815	KIT	Uncertain significance	rs1489233873	RCV001040028;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564683	55564683	G	C	4:g.55564683G>C	-
NM_000222.3(KIT):c.573G>A (p.Glu191=)	3815	KIT	Likely benign	rs780434119	RCV000893327;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564685	55564685	G	A	4:g.55564685G>A	-
NM_000222.3(KIT):c.575G>A (p.Gly192Asp)	3815	KIT	Uncertain significance	rs1268420042	RCV000549741;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564687	55564687	G	A	4:g.55564687G>A	ClinGen:CA356898005	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.576C>A (p.Gly192=)	3815	KIT	Likely benign	-1	RCV002106565;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564688	55564688	C	A	55564688	-
NM_000222.3(KIT):c.577A>C (p.Lys193Gln)	3815	KIT	Uncertain significance	rs1451394869	RCV001301185;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564689	55564689	A	C	55564689	-
NM_000222.3(KIT):c.583G>C (p.Val195Leu)	3815	KIT	Uncertain significance	-1	RCV001872760;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564695	55564695	G	C	55564695	-
NM_000222.3(KIT):c.585G>A (p.Val195=)	3815	KIT	Likely benign	rs749677454	RCV000943163\|RCV001464500;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564697	55564697	G	A	4:g.55564697G>A	-
NM_000222.3(KIT):c.586C>G (p.Leu196Val)	3815	KIT	Uncertain significance	rs768971014	RCV001237940;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564698	55564698	C	G	4:g.55564698C>G	-
NM_000222.3(KIT):c.588G>T (p.Leu196=)	3815	KIT	Likely benign	rs1060504650	RCV000463879;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564700	55564700	G	T	NC_000004.11:g.55564700G>T	ClinGen:CA16611586	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.591G>A (p.Ser197=)	3815	KIT	Likely benign	rs140839561	RCV000467255\|RCV001024685;	N	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	4	55564703	55564703	G	A	NC_000004.11:g.55564703G>A	ClinGen:CA2923266	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.591G>T (p.Ser197=)	3815	KIT	Likely benign	rs140839561	RCV000533665;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564703	55564703	G	T	4:g.55564703G>T	ClinGen:CA2923267	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.598T>C (p.Phe200Leu)	3815	KIT	Uncertain significance	-1	RCV001904713;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564710	55564710	T	C	55564710	-
NM_000222.3(KIT):c.600C>T (p.Phe200=)	3815	KIT	Likely benign	rs772105682	RCV000470794;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564712	55564712	C	T	NC_000004.11:g.55564712C>T	ClinGen:CA2923269	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.601A>G (p.Ile201Val)	3815	KIT	Uncertain significance	-1	RCV001364884;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564713	55564713	A	G	55564713	-
NM_000222.3(KIT):c.602T>A (p.Ile201Asn)	3815	KIT	Uncertain significance	rs1720239362	RCV001210639;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564714	55564714	T	A	4:g.55564714T>A	-
NM_000222.3(KIT):c.604C>T (p.Leu202=)	3815	KIT	Likely benign	rs759589436	RCV000633891;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564716	55564716	C	T	4:g.55564716C>T	ClinGen:CA2923270	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.606G>T (p.Leu202=)	3815	KIT	Likely benign	rs1577957274	RCV000935550;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564718	55564718	G	T	4:g.55564718G>T	-
NM_000222.3(KIT):c.615G>A (p.Arg205=)	3815	KIT	Uncertain significance	rs1720239935	RCV001145221\|RCV001145222\|RCV001147184;	N	Human 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 On	4	55564727	55564727	G	A	4:g.55564727G>A	-
NM_000222.3(KIT):c.619+4C>A	3815	KIT	Uncertain significance	rs1720240123	RCV001295773;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564735	55564735	C	A	55564735	-
NM_000222.3(KIT):c.619+5T>C	3815	KIT	Uncertain significance	rs1060502565	RCV000470040;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564736	55564736	T	C	NC_000004.11:g.55564736T>C	ClinGen:CA16611588	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.619+7G>C	3815	KIT	Likely benign	rs965912884	RCV000920397;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564738	55564738	G	C	4:g.55564738G>C	-
NM_000222.3(KIT):c.619+7G>A	3815	KIT	Likely benign	rs965912884	RCV000927824\|RCV001454733;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564738	55564738	G	A	4:g.55564738G>A	-
NM_000222.3(KIT):c.619+10_619+11del	3815	KIT	Likely benign	-1	RCV001483573;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564739	55564740	GCT	G	55564738	-
NM_000222.3(KIT):c.619+10C>T	3815	KIT	Likely benign	-1	RCV002104505;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564741	55564741	C	T	55564741	-
NM_000222.3(KIT):c.619+16T>C	3815	KIT	Likely benign	-1	RCV002193433;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564747	55564747	T	C	55564747	-
NM_000222.3(KIT):c.619+17A>G	3815	KIT	Likely benign	-1	RCV002190457;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564748	55564748	A	G	55564748	-
NM_000222.3(KIT):c.619+18T>C	3815	KIT	Likely benign	-1	RCV002184590;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564749	55564749	T	C	55564749	-
NM_000222.3(KIT):c.619+20T>C	3815	KIT	Likely benign	-1	RCV001949255;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55564751	55564751	T	C	55564751	-
NM_000222.3(KIT):c.620-7_620-4dup	3815	KIT	Likely benign	-1	RCV001980094;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565785	55565786	T	TTTCA	55565785	-
NM_000222.3(KIT):c.620-10T>C	3815	KIT	Likely benign	rs1362563387	RCV000633869;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565786	55565786	T	C	4:g.55565786T>C	ClinGen:CA658796440	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.620-7A>G	3815	KIT	Likely benign	rs878853768	RCV000225893\|RCV001497488;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565789	55565789	A	G	NC_000004.11:g.55565789A>G	ClinGen:CA10582253	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.620-4C>G	3815	KIT	Likely benign	rs773216281	RCV000982527\|RCV001443193;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565792	55565792	C	G	4:g.55565792C>G	-
NM_000222.3(KIT):c.620-4C>T	3815	KIT	Likely benign	-1	RCV001479001;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565792	55565792	C	T	55565792	-
NM_000222.3(KIT):c.621C>T (p.Ala207=)	3815	KIT	Likely benign	-1	RCV001482635;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565797	55565797	C	T	55565797	-
NM_000222.3(KIT):c.629C>T (p.Ala210Val)	3815	KIT	Uncertain significance	rs1456585233	RCV001071903;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565805	55565805	C	T	4:g.55565805C>T	-
NM_000222.3(KIT):c.631G>A (p.Val211Met)	3815	KIT	Uncertain significance	rs1290764669	RCV001034771;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565807	55565807	G	A	4:g.55565807G>A	-
NM_000222.3(KIT):c.638T>C (p.Val213Ala)	3815	KIT	Uncertain significance	rs878853769	RCV000229809;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565814	55565814	T	C	4:g.55565814T>C	ClinGen:CA10582254	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.640G>A (p.Val214Met)	3815	KIT	Uncertain significance	rs775569383	RCV001051782;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565816	55565816	G	A	4:g.55565816G>A	-
NM_000222.3(KIT):c.641T>C (p.Val214Ala)	3815	KIT	Uncertain significance	rs1720323264	RCV001348989;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565817	55565817	T	C	55565817	-
NM_000222.3(KIT):c.642G>A (p.Val214=)	3815	KIT	Likely benign	-1	RCV002096279;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565818	55565818	G	A	55565818	-
NM_000222.3(KIT):c.645T>C (p.Ser215=)	3815	KIT	Likely benign	rs1577958576	RCV000933064;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565821	55565821	T	C	4:g.55565821T>C	-
NM_000222.3(KIT):c.648G>A (p.Val216=)	3815	KIT	Likely benign	rs1396161786	RCV000928705\|RCV001499338;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565824	55565824	G	A	4:g.55565824G>A	-
NM_000222.3(KIT):c.650C>T (p.Ser217Phe)	3815	KIT	Uncertain significance	rs1163691210	RCV000697830;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565826	55565826	C	T	NC_000004.11:g.55565826C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.652A>G (p.Lys218Glu)	3815	KIT	Uncertain significance	-1	RCV002022538;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565828	55565828	A	G	55565828	-
NM_000222.3(KIT):c.655G>A (p.Ala219Thr)	3815	KIT	Uncertain significance	-1	RCV001952663;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565831	55565831	G	A	55565831	-
NM_000222.3(KIT):c.658A>T (p.Ser220Cys)	3815	KIT	Uncertain significance	rs1060502549	RCV000477317;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565834	55565834	A	T	NC_000004.11:g.55565834A>T	ClinGen:CA16611538	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.658A>G (p.Ser220Gly)	3815	KIT	Uncertain significance	-1	RCV001983130;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565834	55565834	A	G	55565834	-
NM_000222.3(KIT):c.659G>C (p.Ser220Thr)	3815	KIT	Uncertain significance	rs1720325262	RCV001314574;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565835	55565835	G	C	55565835	-
NM_000222.3(KIT):c.662A>G (p.Tyr221Cys)	3815	KIT	Uncertain significance	rs763853854	RCV001307218;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565838	55565838	A	G	55565838	-
NM_000222.3(KIT):c.673G>A (p.Glu225Lys)	3815	KIT	Uncertain significance	rs1330251750	RCV001211131;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565849	55565849	G	A	4:g.55565849G>A	-
NM_000222.3(KIT):c.677G>A (p.Gly226Glu)	3815	KIT	Uncertain significance	rs1577958652	RCV000810337;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565853	55565853	G	A	4:g.55565853G>A	-
NM_000222.3(KIT):c.678G>A (p.Gly226=)	3815	KIT	Likely benign	rs761411033	RCV000949457;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565854	55565854	G	A	4:g.55565854G>A	-
NM_000222.3(KIT):c.678G>C (p.Gly226=)	3815	KIT	Likely benign	-1	RCV001424525;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565854	55565854	G	C	55565854	-
NM_000222.3(KIT):c.685T>C (p.Phe229Leu)	3815	KIT	Uncertain significance	rs1560396887	RCV000691519;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565861	55565861	T	C	NC_000004.11:g.55565861T>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.687C>T (p.Phe229=)	3815	KIT	Likely benign	-1	RCV001478350;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565863	55565863	C	T	55565863	-
NM_000222.3(KIT):c.691G>A (p.Val231Met)	3815	KIT	Uncertain significance	rs1720329025	RCV001224914;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565867	55565867	G	A	4:g.55565867G>A	-
NM_000222.3(KIT):c.693G>C (p.Val231=)	3815	KIT	Likely benign	rs552937042	RCV000924618;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565869	55565869	G	C	4:g.55565869G>C	-
NM_000222.3(KIT):c.695C>T (p.Thr232Met)	3815	KIT	Uncertain significance	rs767174569	RCV000687579;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565871	55565871	C	T	NC_000004.11:g.55565871C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.696G>A (p.Thr232=)	3815	KIT	Likely benign	rs201988161	RCV000633888\|RCV001025854;	N	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	4	55565872	55565872	G	A	4:g.55565872G>A	ClinGen:CA2923296	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.696G>T (p.Thr232=)	3815	KIT	Likely benign	rs201988161	RCV000633927;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565872	55565872	G	T	NC_000004.11:g.55565872G>T	ClinGen:CA439288215	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.696G>C (p.Thr232=)	3815	KIT	Likely benign	rs201988161	RCV001025858\|RCV002069025;	N	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	4	55565872	55565872	G	C	4:g.55565872G>C	-
NM_000222.3(KIT):c.699C>T (p.Cys233=)	3815	KIT	Likely benign	rs1182561091	RCV000978104\|RCV001405161;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565875	55565875	C	T	4:g.55565875C>T	-
NM_000222.3(KIT):c.700A>G (p.Thr234Ala)	3815	KIT	Uncertain significance	rs1577958731	RCV000816299;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565876	55565876	A	G	4:g.55565876A>G	-
NM_000222.3(KIT):c.702A>G (p.Thr234=)	3815	KIT	Likely benign	rs1553887939	RCV000527247;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565878	55565878	A	G	4:g.55565878A>G	ClinGen:CA439288218	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.707A>C (p.Lys236Thr)	3815	KIT	Uncertain significance	rs374957554	RCV000697055;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565883	55565883	A	C	NC_000004.11:g.55565883A>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.708A>G (p.Lys236=)	3815	KIT	Likely benign	-1	RCV002092625;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565884	55565884	A	G	55565884	-
NM_000222.3(KIT):c.711T>C (p.Asp237=)	3815	KIT	Likely benign	rs1577958757	RCV000941950\|RCV001493554;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565887	55565887	T	C	4:g.55565887T>C	-
NM_000222.3(KIT):c.723T>C (p.Ser241=)	3815	KIT	Likely benign	-1	RCV002157532;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565899	55565899	T	C	55565899	-
NM_000222.3(KIT):c.724G>A (p.Val242Met)	3815	KIT	Uncertain significance	rs1553887944	RCV000539714;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565900	55565900	G	A	4:g.55565900G>A	ClinGen:CA356898538	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.728A>T (p.Tyr243Phe)	3815	KIT	Uncertain significance	rs1577958787	RCV000801613\|RCV001026230;	N	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	4	55565904	55565904	A	T	4:g.55565904A>T	-
NM_000222.3(KIT):c.728A>G (p.Tyr243Cys)	3815	KIT	Uncertain significance	-1	RCV002017874;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565904	55565904	A	G	55565904	-
NM_000222.3(KIT):c.729C>T (p.Tyr243=)	3815	KIT	Likely benign	-1	RCV001434523;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565905	55565905	C	T	55565905	-
NM_000222.3(KIT):c.733A>G (p.Thr245Ala)	3815	KIT	Uncertain significance	rs754400702	RCV000232729;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565909	55565909	A	G	4:g.55565909A>G	ClinGen:CA2923299	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.734C>T (p.Thr245Met)	3815	KIT	Conflicting interpretations of pathogenicity	rs755508624	RCV000552165\|RCV001026312;	N	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	4	55565910	55565910	C	T	4:g.55565910C>T	ClinGen:CA2923300	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.735G>A (p.Thr245=)	3815	KIT	Benign/Likely benign	rs150150449	RCV000227627\|RCV001026319;	N	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	4	55565911	55565911	G	A	4:g.55565911G>A	ClinGen:CA2923301	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.735G>T (p.Thr245=)	3815	KIT	Likely benign	-1	RCV001493868;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565911	55565911	G	T	55565911	-
NM_000222.3(KIT):c.746A>G (p.Glu249Gly)	3815	KIT	Uncertain significance	rs1060502571	RCV000462564;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565922	55565922	A	G	NC_000004.11:g.55565922A>G	ClinGen:CA16611590	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.748A>G (p.Asn250Asp)	3815	KIT	Uncertain significance	rs1553887953	RCV000527606;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565924	55565924	A	G	4:g.55565924A>G	ClinGen:CA356898660	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.749A>G (p.Asn250Ser)	3815	KIT	Uncertain significance	rs748527429	RCV000540047\|RCV001026500;	N	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	4	55565925	55565925	A	G	4:g.55565925A>G	ClinGen:CA2923302	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.753_756del (p.Ser251fs)	3815	KIT	Pathogenic	rs1553887960	RCV000552533\|RCV001783038;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:CN517202	4	55565926	55565929	ACAGT	A	NC_000004.11:g.55565929_55565932del	ClinGen:CA658655848	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.750C>T (p.Asn250=)	3815	KIT	Likely benign	-1	RCV001439473;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565926	55565926	C	T	55565926	-
NM_000222.3(KIT):c.751A>G (p.Ser251Gly)	3815	KIT	Uncertain significance	-1	RCV001361147;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565927	55565927	A	G	55565927	-
NM_000222.3(KIT):c.756G>A (p.Gln252=)	3815	KIT	Uncertain significance	-1	RCV001977923;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565932	55565932	G	A	55565932	-
NM_000222.3(KIT):c.756+1G>A	3815	KIT	Likely pathogenic	rs1301704156	RCV000802845;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565933	55565933	G	A	4:g.55565933G>A	-
NM_000222.3(KIT):c.756+3G>A	3815	KIT	Uncertain significance	rs534201005	RCV000533115;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565935	55565935	G	A	4:g.55565935G>A	ClinGen:CA2923304	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.756+3G>C	3815	KIT	Uncertain significance	rs534201005	RCV001230347;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565935	55565935	G	C	4:g.55565935G>C	-
NM_000222.3(KIT):c.756+11C>T	3815	KIT	Likely benign	-1	RCV002151882;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565943	55565943	C	T	55565943	-
NM_000222.3(KIT):c.756+14T>A	3815	KIT	Likely benign	-1	RCV002118311;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565946	55565946	T	A	55565946	-
NM_000222.3(KIT):c.756+22_756+24del	3815	KIT	Likely benign	-1	RCV002205480;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565950	55565952	ATTC	A	55565949	-
NM_000222.3(KIT):c.756+19T>C	3815	KIT	Likely benign	-1	RCV002187556;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55565951	55565951	T	C	55565951	-
NM_000222.3(KIT):c.757-18C>T	3815	KIT	Likely benign	-1	RCV002160394;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569872	55569872	C	T	55569872	-
NM_000222.3(KIT):c.757-13C>A	3815	KIT	Likely benign	-1	RCV002162552;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569877	55569877	C	A	55569877	-
NM_000222.3(KIT):c.757-12T>C	3815	KIT	Likely benign	-1	RCV002078303;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569878	55569878	T	C	55569878	-
NC_000004.11:g.(?_55569880)_(55575715_?)dup	3815	KIT	Likely pathogenic	-1	RCV002006573;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569880	55575715	na	na	-1	-
NM_000222.3(KIT):c.757-9A>G	3815	KIT	Uncertain significance	rs367986084	RCV000554033\|RCV001356232;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:CN517202	4	55569881	55569881	A	G	4:g.55569881A>G	ClinGen:CA2923316	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.757-7C>G	3815	KIT	Uncertain significance	rs760308110	RCV000546153;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569883	55569883	C	G	4:g.55569883C>G	ClinGen:CA2923317	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.757-7C>T	3815	KIT	Likely benign	-1	RCV002072404;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569883	55569883	C	T	55569883	-
NC_000004.11:g.(?_55569884)_(55604729_?)dup	3815	KIT	Uncertain significance	-1	RCV000633944;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569884	55604729	na	na		-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.757-3_757-1del	3815	KIT	Likely benign	-1	RCV001498582;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569884	55569886	CCAG	C	55569883	-
NM_000222.3(KIT):c.757-4G>A	3815	KIT	Likely benign	-1	RCV001488751;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569886	55569886	G	A	55569886	-
NM_000222.3(KIT):c.757-1G>A	3815	KIT	Likely pathogenic	-1	RCV002008144;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569889	55569889	G	A	55569889	-
NM_000222.3(KIT):c.757A>G (p.Thr253Ala)	3815	KIT	Uncertain significance	rs765944197	RCV000530052;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569890	55569890	A	G	4:g.55569890A>G	ClinGen:CA2923318	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.758C>A (p.Thr253Asn)	3815	KIT	Uncertain significance	-1	RCV001368447;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569891	55569891	C	A	55569891	-
NM_000222.3(KIT):c.760A>G (p.Lys254Glu)	3815	KIT	Uncertain significance	-1	RCV001981848;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569893	55569893	A	G	55569893	-
NM_000222.3(KIT):c.763C>T (p.Leu255=)	3815	KIT	Likely benign	-1	RCV001472363;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569896	55569896	C	T	55569896	-
NM_000222.3(KIT):c.764T>C (p.Leu255Pro)	3815	KIT	Uncertain significance	-1	RCV001903415;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569897	55569897	T	C	55569897	-
NM_000222.3(KIT):c.765A>G (p.Leu255=)	3815	KIT	Likely benign	-1	RCV001418604;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569898	55569898	A	G	55569898	-
NM_000222.3(KIT):c.767A>C (p.Gln256Pro)	3815	KIT	Uncertain significance	rs1720599914	RCV001054160;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569900	55569900	A	C	4:g.55569900A>C	-
NM_000222.3(KIT):c.772A>C (p.Lys258Gln)	3815	KIT	Uncertain significance	-1	RCV001370674;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569905	55569905	A	C	55569905	-
NM_000222.3(KIT):c.773A>C (p.Lys258Thr)	3815	KIT	Uncertain significance	rs1577963039	RCV000813307;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569906	55569906	A	C	4:g.55569906A>C	-
NM_000222.3(KIT):c.774A>C (p.Lys258Asn)	3815	KIT	Uncertain significance	rs755490030	RCV000704210;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569907	55569907	A	C	4:g.55569907A>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.774A>G (p.Lys258=)	3815	KIT	Likely benign	rs755490030	RCV000936075\|RCV001392259;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569907	55569907	A	G	4:g.55569907A>G	-
NM_000222.3(KIT):c.776A>G (p.Tyr259Cys)	3815	KIT	Uncertain significance	rs200422460	RCV000034508\|RCV000547076;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569909	55569909	A	G	4:g.55569909A>G	ClinGen:CA215596	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.780T>C (p.Asn260=)	3815	KIT	Likely benign	rs1192922107	RCV000943987\|RCV001026840\|RCV001476056;	N	MedGen: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	4	55569913	55569913	T	C	4:g.55569913T>C	-
NM_000222.3(KIT):c.792C>T (p.His264=)	3815	KIT	Likely benign	rs753102574	RCV000633883\|RCV001026962;	N	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	4	55569925	55569925	C	T	4:g.55569925C>T	ClinGen:CA2923322	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.792C>A (p.His264Gln)	3815	KIT	Uncertain significance	rs753102574	RCV001244299;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569925	55569925	C	A	4:g.55569925C>A	-
NM_000222.3(KIT):c.793G>A (p.Gly265Ser)	3815	KIT	Uncertain significance	rs1060502570	RCV000470377;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569926	55569926	G	A	NC_000004.11:g.55569926G>A	ClinGen:CA16611657	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.794G>C (p.Gly265Ala)	3815	KIT	Uncertain significance	-1	RCV002038156;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569927	55569927	G	C	55569927	-
NM_000222.3(KIT):c.796G>T (p.Asp266Tyr)	3815	KIT	Uncertain significance	rs1720603341	RCV001035705;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569929	55569929	G	T	4:g.55569929G>T	-
NM_000222.3(KIT):c.809A>G (p.Glu270Gly)	3815	KIT	Uncertain significance	-1	RCV001992103;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569942	55569942	A	G	55569942	-
NM_000222.3(KIT):c.811C>T (p.Arg271Cys)	3815	KIT	Uncertain significance	rs1720604274	RCV001051859;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569944	55569944	C	T	4:g.55569944C>T	-
NM_000222.3(KIT):c.812G>A (p.Arg271His)	3815	KIT	Uncertain significance	-1	RCV002004389;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569945	55569945	G	A	55569945	-
NM_000222.3(KIT):c.816G>A (p.Gln272=)	3815	KIT	Likely benign	-1	RCV001504096;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569949	55569949	G	A	55569949	-
NM_000222.3(KIT):c.817G>A (p.Ala273Thr)	3815	KIT	Uncertain significance	rs769498440	RCV000808863;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569950	55569950	G	A	4:g.55569950G>A	-
NM_000222.3(KIT):c.819A>G (p.Ala273=)	3815	KIT	Likely benign	-1	RCV002134233;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569952	55569952	A	G	55569952	-
NM_000222.3(KIT):c.821C>T (p.Thr274Met)	3815	KIT	Conflicting interpretations of pathogenicity	rs138585275	RCV000034509\|RCV000210905\|RCV001027295\|RCV001079392\|RCV001147185\|RCV001147186\|RCV001818211;	N	MedGen: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:MO	4	55569954	55569954	C	T	4:g.55569954C>T	ClinGen:CA215599	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.822G>A (p.Thr274=)	3815	KIT	Likely benign	rs747288547	RCV000465528;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569955	55569955	G	A	NC_000004.11:g.55569955G>A	ClinGen:CA2923324	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.823T>C (p.Leu275=)	3815	KIT	Likely benign	-1	RCV001404588;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569956	55569956	T	C	55569956	-
NM_000222.3(KIT):c.829A>G (p.Ile277Val)	3815	KIT	Uncertain significance	rs757547974	RCV000469535;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569962	55569962	A	G	NC_000004.11:g.55569962A>G	ClinGen:CA16611541	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.829A>C (p.Ile277Leu)	3815	KIT	Uncertain significance	rs757547974	RCV001240988;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569962	55569962	A	C	4:g.55569962A>C	-
NM_000222.3(KIT):c.833G>T (p.Ser278Ile)	3815	KIT	Uncertain significance	rs1325793057	RCV001242560;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569966	55569966	G	T	4:g.55569966G>T	-
NM_000222.3(KIT):c.840_925+649del	3815	KIT	Likely pathogenic	rs1720606396	RCV001231917;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569966	55570700	AGTTCAGCGAGAGTTAATGATTCTGGAGTGTTCATGTGTTATGCCAATAATACTTTTGGATCAGCAAATGTCACAACAACCTTGGAAGTAGTAGGTAAATACCTCTATGG	A	4:g.55569966_55570064del	-
NM_000222.3(KIT):c.839C>T (p.Ala280Val)	3815	KIT	Uncertain significance	rs386833402	RCV000034510\|RCV000633787\|RCV001017685;	N	MedGen: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	4	55569972	55569972	C	T	4:g.55569972C>T	ClinGen:CA215602	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.840G>C (p.Ala280=)	3815	KIT	Likely benign	rs142772432	RCV000233322;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569973	55569973	G	C	4:g.55569973G>C	ClinGen:CA2923326	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.840G>A (p.Ala280=)	3815	KIT	Likely benign	rs142772432	RCV000867638\|RCV001017718;	N	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	4	55569973	55569973	G	A	4:g.55569973G>A	-
NM_000222.3(KIT):c.840G>T (p.Ala280=)	3815	KIT	Likely benign	rs142772432	RCV000983158;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569973	55569973	G	T	4:g.55569973G>T	-
NM_000222.3(KIT):c.842G>A (p.Arg281Lys)	3815	KIT	Uncertain significance	rs147367441	RCV000633771;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569975	55569975	G	A	4:g.55569975G>A	ClinGen:CA2923329	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.844G>A (p.Val282Ile)	3815	KIT	Uncertain significance	rs771961192	RCV000227234;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569977	55569977	G	A	4:g.55569977G>A	ClinGen:CA2923330	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.852T>C (p.Asp284=)	3815	KIT	Likely benign	rs1213025241	RCV000633915;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569985	55569985	T	C	4:g.55569985T>C	ClinGen:CA439288459	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.858A>G (p.Gly286=)	3815	KIT	Likely benign	rs1553888389	RCV000542874;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569991	55569991	A	G	4:g.55569991A>G	ClinGen:CA439288464	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.859G>T (p.Val287Leu)	3815	KIT	Uncertain significance	rs1720608499	RCV001317406;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569992	55569992	G	T	55569992	-
NM_000222.3(KIT):c.860T>C (p.Val287Ala)	3815	KIT	Uncertain significance	-1	RCV001925589;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569993	55569993	T	C	55569993	-
NM_000222.3(KIT):c.865A>G (p.Met289Val)	3815	KIT	Uncertain significance	rs1577963205	RCV000817757;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569998	55569998	A	G	4:g.55569998A>G	-
NM_000222.3(KIT):c.866T>C (p.Met289Thr)	3815	KIT	Uncertain significance	rs1363221725	RCV000633810;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55569999	55569999	T	C	4:g.55569999T>C	ClinGen:CA356899965	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.867G>A (p.Met289Ile)	3815	KIT	Uncertain significance	rs1297145844	RCV001064446;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570000	55570000	G	A	4:g.55570000G>A	-
NM_000222.3(KIT):c.867G>C (p.Met289Ile)	3815	KIT	Uncertain significance	rs1297145844	RCV001063027;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570000	55570000	G	C	4:g.55570000G>C	-
NM_000222.3(KIT):c.872A>G (p.Tyr291Cys)	3815	KIT	Uncertain significance	rs1720610130	RCV001321325;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570005	55570005	A	G	55570005	-
NM_000222.3(KIT):c.873T>C (p.Tyr291=)	3815	KIT	Likely benign	rs772988068	RCV000872183\|RCV001018262;	N	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	4	55570006	55570006	T	C	4:g.55570006T>C	-
NM_000222.3(KIT):c.874G>A (p.Ala292Thr)	3815	KIT	Uncertain significance	-1	RCV001980448;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570007	55570007	G	A	55570007	-
NM_000222.3(KIT):c.876C>G (p.Ala292=)	3815	KIT	Likely benign	-1	RCV002156374;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570009	55570009	C	G	55570009	-
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)	3815	KIT	Conflicting interpretations of pathogenicity	rs137909416	RCV000231125\|RCV001018319\|RCV001147188\|RCV001147187\|RCV001355985;	N	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,MedGen:C0024899,Orph	4	55570011	55570011	A	G	NC_000004.11:g.55570011A>G	ClinGen:CA2923332	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.881A>G (p.Asn294Ser)	3815	KIT	Uncertain significance	rs1019104358	RCV001040029;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570014	55570014	A	G	4:g.55570014A>G	-
NM_000222.3(KIT):c.882T>C (p.Asn294=)	3815	KIT	Likely benign	rs765997309	RCV000559844\|RCV001473699;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570015	55570015	T	C	4:g.55570015T>C	ClinGen:CA2923333	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.888T>A (p.Phe296Leu)	3815	KIT	Uncertain significance	rs1553888402	RCV000633739;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570021	55570021	T	A	4:g.55570021T>A	ClinGen:CA356900072	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.891A>G (p.Gly297=)	3815	KIT	Uncertain significance	-1	RCV001361750;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570024	55570024	A	G	55570024	-
NM_000222.3(KIT):c.899A>G (p.Asn300Ser)	3815	KIT	Uncertain significance	rs878853770	RCV000234073;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570032	55570032	A	G	4:g.55570032A>G	ClinGen:CA10582255	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.900T>C (p.Asn300=)	3815	KIT	Likely benign	-1	RCV002116430;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570033	55570033	T	C	55570033	-
NM_000222.3(KIT):c.901G>A (p.Val301Ile)	3815	KIT	Uncertain significance	rs1720613744	RCV001348448;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570034	55570034	G	A	55570034	-
NM_000222.3(KIT):c.902T>C (p.Val301Ala)	3815	KIT	Uncertain significance	rs759119367	RCV000633845;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570035	55570035	T	C	4:g.55570035T>C	ClinGen:CA2923335	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.902T>G (p.Val301Gly)	3815	KIT	Uncertain significance	-1	RCV001902880;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570035	55570035	T	G	55570035	-
NM_000222.3(KIT):c.904A>C (p.Thr302Pro)	3815	KIT	Uncertain significance	-1	RCV001898481;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570037	55570037	A	C	55570037	-
NM_000222.3(KIT):c.906A>G (p.Thr302=)	3815	KIT	Likely benign	-1	RCV001451959;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570039	55570039	A	G	55570039	-
NM_000222.3(KIT):c.909A>C (p.Thr303=)	3815	KIT	Likely benign	rs531740394	RCV000536449;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570042	55570042	A	C	4:g.55570042A>C	ClinGen:CA96852886	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)	3815	KIT	Conflicting interpretations of pathogenicity	rs202052259	RCV000034511\|RCV001018858\|RCV001081377\|RCV001148078\|RCV001147190;	N	MedGen: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,MedG	4	55570043	55570043	A	G	4:g.55570043A>G	ClinGen:CA215605	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.912C>T (p.Thr304=)	3815	KIT	Likely benign	rs999025845	RCV000475034\|RCV001018903;	N	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	4	55570045	55570045	C	T	NC_000004.11:g.55570045C>T	ClinGen:CA16611591	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.913T>G (p.Leu305Val)	3815	KIT	Uncertain significance	rs1720615266	RCV001213026;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570046	55570046	T	G	4:g.55570046T>G	-
NM_000222.3(KIT):c.916G>A (p.Glu306Lys)	3815	KIT	Uncertain significance	rs753258292	RCV000548950;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570049	55570049	G	A	NC_000004.11:g.55570049G>A	ClinGen:CA2923336	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.918A>G (p.Glu306=)	3815	KIT	Likely benign	-1	RCV002098884;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570051	55570051	A	G	55570051	-
NM_000222.3(KIT):c.924A>G (p.Val308=)	3815	KIT	Uncertain significance	-1	RCV001891103;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570057	55570057	A	G	55570057	-
NM_000222.3(KIT):c.925+3A>G	3815	KIT	Uncertain significance	rs1060502561	RCV000473478;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570061	55570061	A	G	NC_000004.11:g.55570061A>G	ClinGen:CA16611659	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.925+6T>C	3815	KIT	Uncertain significance	rs1720616932	RCV001343447;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570064	55570064	T	C	55570064	-
NM_000222.3(KIT):c.925+8C>T	3815	KIT	Likely benign	-1	RCV001465312;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570066	55570066	C	T	55570066	-
NM_000222.3(KIT):c.925+9C>T	3815	KIT	Benign	rs201405378	RCV000460765;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570067	55570067	C	T	NC_000004.11:g.55570067C>T	ClinGen:CA2923337	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.925+9C>G	3815	KIT	Likely benign	-1	RCV002071048;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570067	55570067	C	G	55570067	-
NM_000222.3(KIT):c.925+13A>G	3815	KIT	Likely benign	-1	RCV002106773;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570071	55570071	A	G	55570071	-
NM_000222.3(KIT):c.925+15G>A	3815	KIT	Uncertain significance	-1	RCV001956644;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570073	55570073	G	A	55570073	-
NM_000222.3(KIT):c.925+16G>A	3815	KIT	Likely benign	-1	RCV002108769;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570074	55570074	G	A	55570074	-
NM_000222.3(KIT):c.925+17G>T	3815	KIT	Uncertain significance	-1	RCV001886564;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570075	55570075	G	T	55570075	-
NM_000222.3(KIT):c.925+18A>T	3815	KIT	Uncertain significance	-1	RCV002015732;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55570076	55570076	A	T	55570076	-
NM_000222.3(KIT):c.926-15T>C	3815	KIT	Likely benign	-1	RCV002115624;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573249	55573249	T	C	55573249	-
NM_000222.3(KIT):c.926-8C>G	3815	KIT	Uncertain significance	-1	RCV001991324;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573256	55573256	C	G	55573256	-
NM_000222.3(KIT):c.926-7T>C	3815	KIT	Likely benign	rs1577967039	RCV000931868\|RCV001436404;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573257	55573257	T	C	4:g.55573257T>C	-
NM_000222.3(KIT):c.926-6A>G	3815	KIT	Likely benign	-1	RCV001415189;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573258	55573258	A	G	55573258	-
NM_000222.3(KIT):c.926-4T>C	3815	KIT	Likely benign	-1	RCV001410323;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573260	55573260	T	C	55573260	-
NM_000222.3(KIT):c.927T>A (p.Asp309Glu)	3815	KIT	Uncertain significance	-1	RCV002005440;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573265	55573265	T	A	55573265	-
NM_000222.3(KIT):c.932G>C (p.Gly311Ala)	3815	KIT	Uncertain significance	rs1255809965	RCV000808562;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573270	55573270	G	C	4:g.55573270G>C	-
NM_000222.3(KIT):c.943A>G (p.Ile315Val)	3815	KIT	Uncertain significance	-1	RCV001962043;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573281	55573281	A	G	55573281	-
NM_000222.3(KIT):c.944T>A (p.Ile315Asn)	3815	KIT	Uncertain significance	rs377590954	RCV000803797;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573282	55573282	T	A	4:g.55573282T>A	-
NM_000222.3(KIT):c.947T>C (p.Phe316Ser)	3815	KIT	Uncertain significance	-1	RCV001362805;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573285	55573285	T	C	55573285	-
NM_000222.3(KIT):c.948C>T (p.Phe316=)	3815	KIT	Likely benign	rs1577967076	RCV000969504;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573286	55573286	C	T	4:g.55573286C>T	-
NM_000222.3(KIT):c.950C>G (p.Pro317Arg)	3815	KIT	Uncertain significance	-1	RCV001871210;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573288	55573288	C	G	55573288	-
NM_000222.3(KIT):c.951C>T (p.Pro317=)	3815	KIT	Likely benign	rs770676368	RCV000938394\|RCV001437720;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573289	55573289	C	T	4:g.55573289C>T	-
NM_000222.3(KIT):c.952A>G (p.Met318Val)	3815	KIT	Conflicting interpretations of pathogenicity	rs143388949	RCV000228971\|RCV001019462\|RCV001148079\|RCV001148080;	N	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,MedGen:C0024899,Orph	4	55573290	55573290	A	G	4:g.55573290A>G	ClinGen:CA211569	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.952A>C (p.Met318Leu)	3815	KIT	Uncertain significance	rs143388949	RCV001307994;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573290	55573290	A	C	55573290	-
NM_000222.3(KIT):c.954G>A (p.Met318Ile)	3815	KIT	Uncertain significance	rs769399180	RCV000230762;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573292	55573292	G	A	NC_000004.11:g.55573292G>A	ClinGen:CA2923351	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.954G>C (p.Met318Ile)	3815	KIT	Uncertain significance	rs769399180	RCV001215605;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573292	55573292	G	C	4:g.55573292G>C	-
NM_000222.3(KIT):c.955A>G (p.Ile319Val)	3815	KIT	Uncertain significance	-1	RCV001945415;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573293	55573293	A	G	55573293	-
NM_000222.3(KIT):c.957A>G (p.Ile319Met)	3815	KIT	Uncertain significance	rs377102206	RCV001203965;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573295	55573295	A	G	4:g.55573295A>G	-
NM_000222.3(KIT):c.961A>G (p.Thr321Ala)	3815	KIT	Uncertain significance	-1	RCV001977738;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573299	55573299	A	G	55573299	-
NM_000222.3(KIT):c.962C>G (p.Thr321Ser)	3815	KIT	Uncertain significance	rs1720838867	RCV001324154;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573300	55573300	C	G	55573300	-
NM_000222.3(KIT):c.964A>G (p.Thr322Ala)	3815	KIT	Uncertain significance	rs147540142	RCV001228617;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573302	55573302	A	G	4:g.55573302A>G	-
NM_000222.3(KIT):c.966A>T (p.Thr322=)	3815	KIT	Likely benign	rs895638079	RCV000977247\|RCV001450776;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573304	55573304	A	T	4:g.55573304A>T	-
NM_000222.3(KIT):c.967G>A (p.Val323Ile)	3815	KIT	Uncertain significance	rs1060502539	RCV000475447;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573305	55573305	G	A	NC_000004.11:g.55573305G>A	ClinGen:CA16611660	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.969A>G (p.Val323=)	3815	KIT	Likely benign	rs1553888773	RCV000537400\|RCV001019629;	N	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	4	55573307	55573307	A	G	4:g.55573307A>G	ClinGen:CA439288590	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.973G>A (p.Val325Ile)	3815	KIT	Uncertain significance	-1	RCV001977930;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573311	55573311	G	A	55573311	-
NM_000222.3(KIT):c.976A>G (p.Asn326Asp)	3815	KIT	Uncertain significance	rs1720840263	RCV001204742;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573314	55573314	A	G	4:g.55573314A>G	-
NM_000222.3(KIT):c.977A>G (p.Asn326Ser)	3815	KIT	Uncertain significance	-1	RCV002019730;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573315	55573315	A	G	55573315	-
NM_000222.3(KIT):c.978C>T (p.Asn326=)	3815	KIT	Conflicting interpretations of pathogenicity	rs148594615	RCV000549192\|RCV001019744\|RCV001148082\|RCV001148081;	N	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,MedGen:C0024899,Orph	4	55573316	55573316	C	T	4:g.55573316C>T	ClinGen:CA2923354	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.978C>G (p.Asn326Lys)	3815	KIT	Uncertain significance	rs148594615	RCV001066070;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573316	55573316	C	G	4:g.55573316C>G	-
NM_000222.3(KIT):c.979G>A (p.Asp327Asn)	3815	KIT	Uncertain significance	rs752061752	RCV000633799;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573317	55573317	G	A	4:g.55573317G>A	ClinGen:CA2923355	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.981T>C (p.Asp327=)	3815	KIT	Likely benign	-1	RCV002108499;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573319	55573319	T	C	55573319	-
NM_000222.3(KIT):c.984A>G (p.Gly328=)	3815	KIT	Likely benign	-1	RCV002131584;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573322	55573322	A	G	55573322	-
NM_000222.3(KIT):c.993A>G (p.Val331=)	3815	KIT	Likely benign	rs1553888778	RCV000633859;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573331	55573331	A	G	4:g.55573331A>G	ClinGen:CA439288602	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.993A>T (p.Val331=)	3815	KIT	Likely benign	-1	RCV002172481;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573331	55573331	A	T	55573331	-
NM_000222.3(KIT):c.995A>G (p.Asp332Gly)	3815	KIT	Uncertain significance	-1	RCV001947563;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573333	55573333	A	G	55573333	-
NM_000222.3(KIT):c.996T>A (p.Asp332Glu)	3815	KIT	Uncertain significance	rs1720841191	RCV001246717;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573334	55573334	T	A	4:g.55573334T>A	-
NM_000222.3(KIT):c.1000_1003dup (p.Val335fs)	3815	KIT	Pathogenic	-1	RCV001867464;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573334	55573335	T	TTTGA	55573334	-
NM_000222.3(KIT):c.1008A>G (p.Glu336=)	3815	KIT	Uncertain significance	-1	RCV002050191;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573346	55573346	A	G	55573346	-
NM_000222.3(KIT):c.1011T>C (p.Tyr337=)	3815	KIT	Likely benign	rs777287699	RCV000531996;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573349	55573349	T	C	4:g.55573349T>C	ClinGen:CA96855358	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1017A>G (p.Ala339=)	3815	KIT	Likely benign	rs1253593989	RCV000633935\|RCV001443434;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573355	55573355	A	G	NC_000004.11:g.55573355A>G	ClinGen:CA439288616	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1021C>T (p.Pro341Ser)	3815	KIT	Uncertain significance	rs1720842703	RCV001322266;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573359	55573359	C	T	55573359	-
NM_000222.3(KIT):c.1023C>T (p.Pro341=)	3815	KIT	Likely benign	-1	RCV001448859;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573361	55573361	C	T	55573361	-
NM_000222.3(KIT):c.1025A>G (p.Lys342Arg)	3815	KIT	Uncertain significance	rs1720843061	RCV001337712;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573363	55573363	A	G	55573363	-
NM_000222.3(KIT):c.1025A>T (p.Lys342Ile)	3815	KIT	Uncertain significance	-1	RCV002038554;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573363	55573363	A	T	55573363	-
NM_000222.3(KIT):c.1027C>T (p.Pro343Ser)	3815	KIT	Uncertain significance	rs878853757	RCV000231141\|RCV001017024;	N	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	4	55573365	55573365	C	T	NC_000004.11:g.55573365C>T	ClinGen:CA10582256	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1032A>G (p.Glu344=)	3815	KIT	Likely benign	rs1553888785	RCV000633934;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573370	55573370	A	G	NC_000004.11:g.55573370A>G	ClinGen:CA439288627	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1033C>T (p.His345Tyr)	3815	KIT	Uncertain significance	rs1560401964	RCV000693097;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573371	55573371	C	T	4:g.55573371C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1035C>G (p.His345Gln)	3815	KIT	Uncertain significance	-1	RCV001953124;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573373	55573373	C	G	55573373	-
NM_000222.3(KIT):c.1036C>G (p.Gln346Glu)	3815	KIT	Uncertain significance	rs1060502555	RCV000472330;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573374	55573374	C	G	NC_000004.11:g.55573374C>G	ClinGen:CA16611592	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1038G>T (p.Gln346His)	3815	KIT	Uncertain significance	rs1577967302	RCV000817513;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573376	55573376	G	T	4:g.55573376G>T	-
NM_000222.3(KIT):c.1038G>A (p.Gln346=)	3815	KIT	Likely benign	-1	RCV001393780;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573376	55573376	G	A	55573376	-
NM_000222.3(KIT):c.1040A>G (p.Gln347Arg)	3815	KIT	Uncertain significance	-1	RCV001914039;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573378	55573378	A	G	55573378	-
NM_000222.3(KIT):c.1041G>A (p.Gln347=)	3815	KIT	Likely benign	rs750717279	RCV000875007;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573379	55573379	G	A	4:g.55573379G>A	-
NM_000222.3(KIT):c.1045A>G (p.Ile349Val)	3815	KIT	Uncertain significance	rs756286159	RCV000460615;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573383	55573383	A	G	NC_000004.11:g.55573383A>G	ClinGen:CA2923359	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1049A>G (p.Tyr350Cys)	3815	KIT	Uncertain significance	rs864622728	RCV000206375;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573387	55573387	A	G	NC_000004.11:g.55573387A>G	ClinGen:CA350416	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1051A>G (p.Met351Val)	3815	KIT	Uncertain significance	rs1720845704	RCV001042912;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573389	55573389	A	G	4:g.55573389A>G	-
NM_000222.3(KIT):c.1053G>A (p.Met351Ile)	3815	KIT	Uncertain significance	rs1553888790	RCV000633824;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573391	55573391	G	A	NC_000004.11:g.55573391G>A	ClinGen:CA356901055	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1055A>G (p.Asn352Ser)	3815	KIT	Uncertain significance	rs1560402002	RCV000685949;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573393	55573393	A	G	4:g.55573393A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1056C>G (p.Asn352Lys)	3815	KIT	Uncertain significance	rs372759291	RCV000633803;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573394	55573394	C	G	4:g.55573394C>G	ClinGen:CA2923360	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1056C>T (p.Asn352=)	3815	KIT	Likely benign	rs372759291	RCV000924560;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573394	55573394	C	T	4:g.55573394C>T	-
NM_000222.3(KIT):c.1057A>G (p.Arg353Gly)	3815	KIT	Uncertain significance	rs1720846582	RCV001307046;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573395	55573395	A	G	55573395	-
NM_000222.3(KIT):c.1058G>A (p.Arg353Lys)	3815	KIT	Uncertain significance	-1	RCV001907559;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573396	55573396	G	A	55573396	-
NM_000222.3(KIT):c.1059A>G (p.Arg353=)	3815	KIT	Likely benign	rs988120776	RCV000946078;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573397	55573397	A	G	4:g.55573397A>G	-
NM_000222.3(KIT):c.1061C>T (p.Thr354Ile)	3815	KIT	Uncertain significance	-1	RCV001372136;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573399	55573399	C	T	55573399	-
NM_000222.3(KIT):c.1062C>G (p.Thr354=)	3815	KIT	Likely benign	-1	RCV002102252;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573400	55573400	C	G	55573400	-
NM_000222.3(KIT):c.1063T>A (p.Phe355Ile)	3815	KIT	Uncertain significance	-1	RCV001900276;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573401	55573401	T	A	55573401	-
NM_000222.3(KIT):c.1066A>G (p.Thr356Ala)	3815	KIT	Uncertain significance	rs915272994	RCV001233527;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573404	55573404	A	G	4:g.55573404A>G	-
NM_000222.3(KIT):c.1074A>G (p.Lys358=)	3815	KIT	Likely benign	-1	RCV001494199;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573412	55573412	A	G	55573412	-
NM_000222.3(KIT):c.1079A>G (p.Glu360Gly)	3815	KIT	Uncertain significance	rs1577967381	RCV000817836;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573417	55573417	A	G	4:g.55573417A>G	-
NM_000222.3(KIT):c.1080A>C (p.Glu360Asp)	3815	KIT	Uncertain significance	rs753844400	RCV000557148;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573418	55573418	A	C	NC_000004.11:g.55573418A>C	ClinGen:CA2923361	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1081G>T (p.Asp361Tyr)	3815	KIT	Uncertain significance	-1	RCV001956868;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573419	55573419	G	T	55573419	-
NM_000222.3(KIT):c.1086T>C (p.Tyr362=)	3815	KIT	Likely benign	rs554090824	RCV000633941;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573424	55573424	T	C	4:g.55573424T>C	ClinGen:CA96855462	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1089C>A (p.Pro363=)	3815	KIT	Likely benign	-1	RCV001492805;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573427	55573427	C	A	55573427	-
NM_000222.3(KIT):c.1091A>G (p.Lys364Arg)	3815	KIT	Uncertain significance	rs375734891	RCV000470430;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573429	55573429	A	G	NC_000004.11:g.55573429A>G	ClinGen:CA2923362	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1095T>A (p.Ser365=)	3815	KIT	Likely benign	rs142963781	RCV000477358\|RCV001017268;	N	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	4	55573433	55573433	T	A	4:g.55573433T>A	ClinGen:CA2923363	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1098G>A (p.Glu366=)	3815	KIT	Likely benign	rs1060504663	RCV000457024\|RCV001475471;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573436	55573436	G	A	NC_000004.11:g.55573436G>A	ClinGen:CA16611594	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1100A>C (p.Asn367Thr)	3815	KIT	Uncertain significance	rs1060502552	RCV000473251;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573438	55573438	A	C	NC_000004.11:g.55573438A>C	ClinGen:CA16611496	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1101T>C (p.Asn367=)	3815	KIT	Likely benign	-1	RCV002123380;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573439	55573439	T	C	55573439	-
NM_000222.3(KIT):c.1106G>C (p.Ser369Thr)	3815	KIT	Uncertain significance	rs746884875	RCV000807850;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573444	55573444	G	C	4:g.55573444G>C	-
NM_000222.3(KIT):c.1106G>A (p.Ser369Asn)	3815	KIT	Uncertain significance	rs746884875	RCV001220698;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573444	55573444	G	A	4:g.55573444G>A	-
NM_000222.3(KIT):c.1109A>G (p.Asn370Ser)	3815	KIT	Uncertain significance	rs878853758	RCV000229114;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573447	55573447	A	G	NC_000004.11:g.55573447A>G	ClinGen:CA10582257	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1115+3A>G	3815	KIT	Uncertain significance	rs1720850807	RCV001233456;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573456	55573456	A	G	4:g.55573456A>G	-
NM_000222.3(KIT):c.1115+4A>C	3815	KIT	Uncertain significance	rs1720851027	RCV001324397;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573457	55573457	A	C	55573457	-
NM_000222.3(KIT):c.1115+7A>G	3815	KIT	Likely benign	rs1553888808	RCV000533334;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573460	55573460	A	G	NC_000004.11:g.55573460A>G	ClinGen:CA658655849	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1115+9T>C	3815	KIT	Likely benign	-1	RCV001433880;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573462	55573462	T	C	55573462	-
NM_000222.3(KIT):c.1115+10G>A	3815	KIT	Likely benign	rs780833633	RCV000942590;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573463	55573463	G	A	4:g.55573463G>A	-
NM_000222.3(KIT):c.1115+12A>G	3815	KIT	Likely benign	-1	RCV002117279;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573465	55573465	A	G	55573465	-
NM_000222.3(KIT):c.1115+13C>T	3815	KIT	Likely benign	-1	RCV002133907;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573466	55573466	C	T	55573466	-
NM_000222.3(KIT):c.1115+16del	3815	KIT	Benign	-1	RCV002075558;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573468	55573468	CT	C	55573467	-
NM_000222.3(KIT):c.1115+17G>C	3815	KIT	Likely benign	-1	RCV002097323;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573470	55573470	G	C	55573470	-
NM_000222.3(KIT):c.1115+18C>T	3815	KIT	Likely benign	-1	RCV002175130;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573471	55573471	C	T	55573471	-
NM_000222.3(KIT):c.1115+19C>T	3815	KIT	Likely benign	-1	RCV002209529;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55573472	55573472	C	T	55573472	-
NM_000222.3(KIT):c.1116-19A>G	3815	KIT	Likely benign	-1	RCV001958863;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575571	55575571	A	G	55575571	-
NM_000222.3(KIT):c.1116-16_1116-14del	3815	KIT	Likely benign	-1	RCV002174042;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575572	55575574	AGTT	A	55575571	-
NM_000222.3(KIT):c.1116-17T>C	3815	KIT	Likely benign	-1	RCV002082883;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575573	55575573	T	C	55575573	-
NM_000222.3(KIT):c.1116-13C>G	3815	KIT	Likely benign	-1	RCV002192069;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575577	55575577	C	G	55575577	-
NM_000222.3(KIT):c.1116-9T>C	3815	KIT	Likely benign	rs1553889072	RCV000545374;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575581	55575581	T	C	4:g.55575581T>C	ClinGen:CA658655850	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1116-9T>A	3815	KIT	Likely benign	-1	RCV002074609;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575581	55575581	T	A	55575581	-
NM_000222.3(KIT):c.1116-5T>C	3815	KIT	Conflicting interpretations of pathogenicity	rs376229086	RCV000231822\|RCV001017373;	N	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	4	55575585	55575585	T	C	NC_000004.11:g.55575585T>C	ClinGen:CA2923390	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1117T>A (p.Tyr373Asn)	3815	KIT	Uncertain significance	rs1720996900	RCV001216895;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575591	55575591	T	A	4:g.55575591T>A	-
NM_000222.3(KIT):c.1119C>T (p.Tyr373=)	3815	KIT	Benign/Likely benign	rs72549293	RCV000204968\|RCV000249029\|RCV000309223\|RCV000362730\|RCV001009911;	N	Human 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,Hu	4	55575593	55575593	C	T	NC_000004.11:g.55575593C>T	ClinGen:CA349152	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1120G>A (p.Val374Ile)	3815	KIT	Benign/Likely benign	rs73137716	RCV000226794\|RCV001009923\|RCV001147189\|RCV001149638\|RCV001556024;	N	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,MedGen:C0024899,Orph	4	55575594	55575594	G	A	NC_000004.11:g.55575594G>A	ClinGen:CA2923392	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1120G>T (p.Val374Leu)	3815	KIT	Uncertain significance	-1	RCV002017985;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575594	55575594	G	T	55575594	-
NM_000222.3(KIT):c.1126G>A (p.Glu376Lys)	3815	KIT	Uncertain significance	rs1720997965	RCV001233022;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575600	55575600	G	A	4:g.55575600G>A	-
NM_000222.3(KIT):c.1126G>T (p.Glu376Ter)	3815	KIT	Pathogenic	-1	RCV001383946;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575600	55575600	G	T	55575600	-
NM_000222.3(KIT):c.1129C>G (p.Leu377Val)	3815	KIT	Uncertain significance	rs1459672424	RCV000796194;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575603	55575603	C	G	4:g.55575603C>G	-
NM_000222.3(KIT):c.1135C>A (p.Leu379Ile)	3815	KIT	Uncertain significance	rs376275305	RCV000686626;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575609	55575609	C	A	NC_000004.11:g.55575609C>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1136T>G (p.Leu379Arg)	3815	KIT	Uncertain significance	rs1459751065	RCV000688702;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575610	55575610	T	G	NC_000004.11:g.55575610T>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1137A>G (p.Leu379=)	3815	KIT	Benign/Likely benign	rs773723931	RCV000465253\|RCV001009949;	N	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	4	55575611	55575611	A	G	NC_000004.11:g.55575611A>G	ClinGen:CA2923395	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1139C>T (p.Thr380Met)	3815	KIT	Uncertain significance	rs760981584	RCV000467234\|RCV001149640\|RCV001149639;	N	Human 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 On	4	55575613	55575613	C	T	NC_000004.11:g.55575613C>T	ClinGen:CA2923396	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1139C>G (p.Thr380Arg)	3815	KIT	Uncertain significance	-1	RCV001922812;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575613	55575613	C	G	55575613	-
NM_000222.3(KIT):c.1140G>A (p.Thr380=)	3815	KIT	Likely benign	rs766702350	RCV000458727;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575614	55575614	G	A	NC_000004.11:g.55575614G>A	ClinGen:CA2923397	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1149A>G (p.Lys383=)	3815	KIT	Likely benign	-1	RCV001485847;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575623	55575623	A	G	55575623	-
NM_000222.3(KIT):c.1153A>G (p.Thr385Ala)	3815	KIT	Uncertain significance	rs776734905	RCV000699913;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575627	55575627	A	G	4:g.55575627A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1154C>G (p.Thr385Ser)	3815	KIT	Uncertain significance	rs1721000055	RCV001245415;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575628	55575628	C	G	4:g.55575628C>G	-
NM_000222.3(KIT):c.1154C>T (p.Thr385Ile)	3815	KIT	Uncertain significance	-1	RCV002031043;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575628	55575628	C	T	55575628	-
NM_000222.3(KIT):c.1155C>T (p.Thr385=)	3815	KIT	Likely benign	rs373472667	RCV000228678;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575629	55575629	C	T	4:g.55575629C>T	ClinGen:CA2923399	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1155C>G (p.Thr385=)	3815	KIT	Likely benign	rs373472667	RCV000460956;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575629	55575629	C	G	NC_000004.11:g.55575629C>G	ClinGen:CA2923401	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1159G>A (p.Gly387Arg)	3815	KIT	Uncertain significance	-1	RCV001361423;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575633	55575633	G	A	55575633	-
NM_000222.3(KIT):c.1165A>C (p.Thr389Pro)	3815	KIT	Uncertain significance	rs1577970160	RCV000813097;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575639	55575639	A	C	4:g.55575639A>C	-
NM_000222.3(KIT):c.1166C>T (p.Thr389Ile)	3815	KIT	Uncertain significance	rs1721000810	RCV001234595;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575640	55575640	C	T	4:g.55575640C>T	-
NM_000222.3(KIT):c.1168dup (p.Tyr390fs)	3815	KIT	Pathogenic	rs1721001014	RCV001233830;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575640	55575641	C	CT	4:g.55575640_55575641insT	-
NM_000222.3(KIT):c.1166C>G (p.Thr389Ser)	3815	KIT	Uncertain significance	rs1721000810	RCV001318060;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575640	55575640	C	G	55575640	-
NM_000222.3(KIT):c.1171A>G (p.Thr391Ala)	3815	KIT	Uncertain significance	rs757234342	RCV001243897;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575645	55575645	A	G	4:g.55575645A>G	-
NM_000222.3(KIT):c.1173A>G (p.Thr391=)	3815	KIT	Likely benign	rs767377458	RCV000633887;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575647	55575647	A	G	NC_000004.11:g.55575647A>G	ClinGen:CA96857545	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1173A>C (p.Thr391=)	3815	KIT	Likely benign	rs767377458	RCV000980869;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575647	55575647	A	C	4:g.55575647A>C	-
NM_000222.3(KIT):c.1173A>T (p.Thr391=)	3815	KIT	Likely benign	-1	RCV001485932;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575647	55575647	A	T	55575647	-
NM_000222.3(KIT):c.1176C>G (p.Phe392Leu)	3815	KIT	Uncertain significance	rs1212358569	RCV001051056;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575650	55575650	C	G	4:g.55575650C>G	-
NM_000222.3(KIT):c.1176C>A (p.Phe392Leu)	3815	KIT	Uncertain significance	-1	RCV001949128;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575650	55575650	C	A	55575650	-
NM_000222.3(KIT):c.1177C>A (p.Leu393Ile)	3815	KIT	Uncertain significance	rs750332587	RCV001059527;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575651	55575651	C	A	4:g.55575651C>A	-
NM_000222.3(KIT):c.1177C>T (p.Leu393=)	3815	KIT	Likely benign	-1	RCV001415097;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575651	55575651	C	T	55575651	-
NM_000222.3(KIT):c.1179A>G (p.Leu393=)	3815	KIT	Likely benign	-1	RCV001492520;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575653	55575653	A	G	55575653	-
NM_000222.3(KIT):c.1179A>T (p.Leu393=)	3815	KIT	Likely benign	-1	RCV002084615;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575653	55575653	A	T	55575653	-
NM_000222.3(KIT):c.1180G>A (p.Val394Met)	3815	KIT	Uncertain significance	-1	RCV001970591;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575654	55575654	G	A	55575654	-
NM_000222.3(KIT):c.1181T>C (p.Val394Ala)	3815	KIT	Uncertain significance	rs1553889094	RCV000633797\|RCV001010187;	N	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	4	55575655	55575655	T	C	4:g.55575655T>C	ClinGen:CA356902406	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1184C>T (p.Ser395Phe)	3815	KIT	Uncertain significance	rs1721002320	RCV001236228;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575658	55575658	C	T	4:g.55575658C>T	-
NM_000222.3(KIT):c.1185C>A (p.Ser395=)	3815	KIT	Conflicting interpretations of pathogenicity	rs755864184	RCV000633857\|RCV001145323\|RCV001145324;	N	Human 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 On	4	55575659	55575659	C	A	NC_000004.11:g.55575659C>A	ClinGen:CA439288776	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1185C>T (p.Ser395=)	3815	KIT	Likely benign	rs755864184	RCV000864351;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575659	55575659	C	T	4:g.55575659C>T	-
NM_000222.3(KIT):c.1185C>G (p.Ser395=)	3815	KIT	Likely benign	rs755864184	RCV000885172;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575659	55575659	C	G	4:g.55575659C>G	-
NM_000222.3(KIT):c.1187A>G (p.Asn396Ser)	3815	KIT	Uncertain significance	rs1553889095	RCV000557930;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575661	55575661	A	G	NC_000004.11:g.55575661A>G	ClinGen:CA356902448	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1188T>A (p.Asn396Lys)	3815	KIT	Uncertain significance	rs1721003241	RCV001344171;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575662	55575662	T	A	55575662	-
NM_000222.3(KIT):c.1190C>T (p.Ser397Phe)	3815	KIT	Uncertain significance	-1	RCV001949712;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575664	55575664	C	T	55575664	-
NM_000222.3(KIT):c.1194C>T (p.Asp398=)	3815	KIT	Likely benign	rs376940990	RCV000534095;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575668	55575668	C	T	4:g.55575668C>T	ClinGen:CA2923406	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1194_1195delinsAT (p.Asp398_Val399delinsGluPhe)	3815	KIT	Uncertain significance	rs1560404023	RCV000694084;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575668	55575669	CG	AT	NC_000004.11:g.55575668_55575669delinsAT	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)	3815	KIT	Conflicting interpretations of pathogenicity	rs143707288	RCV000121322\|RCV000231519\|RCV001010178\|RCV001145325\|RCV001149637\|RCV001567847;	N	MedGen: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 Ontology	4	55575669	55575669	G	A	4:g.55575669G>A	ClinGen:CA160374	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1195G>T (p.Val399Phe)	3815	KIT	Uncertain significance	rs143707288	RCV001206048;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575669	55575669	G	T	4:g.55575669G>T	-
NM_000222.3(KIT):c.1196T>C (p.Val399Ala)	3815	KIT	Uncertain significance	rs1553889101	RCV000551264;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575670	55575670	T	C	4:g.55575670T>C	ClinGen:CA356902522	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser)	3815	KIT	Benign/Likely benign	rs72549294	RCV000034502\|RCV001010251\|RCV001083741;	N	MedGen: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	4	55575673	55575673	A	G	4:g.55575673A>G	ClinGen:CA215581	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1201G>A (p.Ala401Thr)	3815	KIT	Uncertain significance	rs778615486	RCV000633746\|RCV001010196;	N	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	4	55575675	55575675	G	A	NC_000004.11:g.55575675G>A	ClinGen:CA2923407	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1204G>T (p.Ala402Ser)	3815	KIT	Uncertain significance	-1	RCV001874445;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575678	55575678	G	T	55575678	-
NM_000222.3(KIT):c.1206C>T (p.Ala402=)	3815	KIT	Likely benign	rs747686609	RCV000633903;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575680	55575680	C	T	4:g.55575680C>T	ClinGen:CA2923408	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1207A>G (p.Ile403Val)	3815	KIT	Conflicting interpretations of pathogenicity	rs878853759	RCV000226360\|RCV001010306\|RCV000998237;	N	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:CN517202	4	55575681	55575681	A	G	4:g.55575681A>G	ClinGen:CA10582258	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1209A>T (p.Ile403=)	3815	KIT	Likely benign	rs1467087033	RCV000558681\|RCV001430475;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575683	55575683	A	T	NC_000004.11:g.55575683A>T	ClinGen:CA439288794	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1210G>A (p.Ala404Thr)	3815	KIT	Uncertain significance	rs1272269119	RCV000697126;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575684	55575684	G	A	4:g.55575684G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1211C>A (p.Ala404Glu)	3815	KIT	Uncertain significance	rs1345754212	RCV000633762;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575685	55575685	C	A	4:g.55575685C>A	ClinGen:CA356902619	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1217A>G (p.Asn406Ser)	3815	KIT	Uncertain significance	rs771574892	RCV001010374\|RCV001862767;	N	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	4	55575691	55575691	A	G	4:g.55575691A>G	-
NM_000222.3(KIT):c.1224T>C (p.Tyr408=)	3815	KIT	Likely benign	rs1403733672	RCV000934217\|RCV001396256;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575698	55575698	T	C	4:g.55575698T>C	-
NM_000222.3(KIT):c.1227_1228delinsAT (p.Asn410Tyr)	3815	KIT	Uncertain significance	rs1060502548	RCV000462418;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575701	55575702	GA	AT	NC_000004.11:g.55575701_55575702delinsAT	ClinGen:CA16611665	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1229A>C (p.Asn410Thr)	3815	KIT	Uncertain significance	rs1213469406	RCV001059721;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575703	55575703	A	C	4:g.55575703A>C	-
NM_000222.3(KIT):c.1230T>C (p.Asn410=)	3815	KIT	Likely benign	rs140536677	RCV000464215\|RCV001010455;	N	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	4	55575704	55575704	T	C	NC_000004.11:g.55575704T>C	ClinGen:CA2923412	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1231+8A>G	3815	KIT	Likely benign	rs776973839	RCV000534890;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575713	55575713	A	G	NC_000004.11:g.55575713A>G	ClinGen:CA2923413	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1231+10A>G	3815	KIT	Likely benign	-1	RCV001503115;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575715	55575715	A	G	55575715	-
NM_000222.3(KIT):c.1231+11T>C	3815	KIT	Likely benign	-1	RCV002075984;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575716	55575716	T	C	55575716	-
NM_000222.3(KIT):c.1231+13A>T	3815	KIT	Uncertain significance	-1	RCV002015714;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575718	55575718	A	T	55575718	-
NM_000222.3(KIT):c.1231+14A>G	3815	KIT	Likely benign	-1	RCV002105685;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575719	55575719	A	G	55575719	-
NM_000222.3(KIT):c.1231+20C>T	3815	KIT	Likely benign	-1	RCV002167282;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55575725	55575725	C	T	55575725	-
NM_000222.3(KIT):c.1232-12G>A	3815	KIT	Likely benign	-1	RCV002131060;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589738	55589738	G	A	55589738	-
NC_000004.11:g.(?_55589740)_(55604733_?)dup	3815	KIT	Uncertain significance	-1	RCV000803923;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589740	55604733	na	na		-
NM_000222.3(KIT):c.1232-9T>C	3815	KIT	Likely benign	-1	RCV001410815;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589741	55589741	T	C	55589741	-
NM_000222.3(KIT):c.1232-8T>G	3815	KIT	Likely benign	rs753790041	RCV000935221\|RCV001446619;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589742	55589742	T	G	4:g.55589742T>G	-
NM_000222.3(KIT):c.1232-7C>T	3815	KIT	Likely benign	rs1577988561	RCV000936798\|RCV001406033;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589743	55589743	C	T	4:g.55589743C>T	-
NM_000222.3(KIT):c.1232-6C>G	3815	KIT	Conflicting interpretations of pathogenicity	rs1553890995	RCV000527668;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589744	55589744	C	G	NC_000004.11:g.55589744C>G	ClinGen:CA658655851	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1232-6C>T	3815	KIT	Likely benign	-1	RCV001416252;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589744	55589744	C	T	55589744	-
NM_000222.3(KIT):c.1232-5T>C	3815	KIT	Conflicting interpretations of pathogenicity	rs1355467895	RCV000972048\|RCV001010463;	N	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	4	55589745	55589745	T	C	4:g.55589745T>C	-
NM_000222.3(KIT):c.1232-4G>A	3815	KIT	Likely benign	rs759411599	RCV000547489;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589746	55589746	G	A	NC_000004.11:g.55589746G>A	ClinGen:CA2923442	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1232-3dup	3815	KIT	Uncertain significance	rs1577988597	RCV000801664;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589746	55589747	G	GT	4:g.55589746_55589747insT	-
NM_000222.3(KIT):c.1232-3T>C	3815	KIT	Uncertain significance	rs1722024450	RCV001247112;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589747	55589747	T	C	4:g.55589747T>C	-
NM_000222.3(KIT):c.1232-1G>A	3815	KIT	Likely pathogenic	-1	RCV001378860;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589749	55589749	G	A	55589749	-
NM_000222.3(KIT):c.1239A>G (p.Pro413=)	3815	KIT	Likely benign	-1	RCV001477409;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589757	55589757	A	G	55589757	-
NM_000222.3(KIT):c.1240G>C (p.Glu414Gln)	3815	KIT	Uncertain significance	rs1722025262	RCV001037552;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589758	55589758	G	C	4:g.55589758G>C	-
NM_000222.3(KIT):c.1245C>T (p.Ile415=)	3815	KIT	Likely benign	-1	RCV001455300;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589763	55589763	C	T	55589763	-
NM_000222.3(KIT):c.1246C>T (p.Leu416=)	3815	KIT	Likely benign	-1	RCV001501517;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589764	55589764	C	T	55589764	-
NM_000222.3(KIT):c.1248G>C (p.Leu416=)	3815	KIT	Likely benign	-1	RCV001485897;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589766	55589766	G	C	55589766	-
NM_000222.3(KIT):c.1254C>T (p.Tyr418=)	3815	KIT	Likely benign	rs1553891002	RCV000535713;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589772	55589772	C	T	4:g.55589772C>T	ClinGen:CA439289545	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1255G>A (p.Asp419Asn)	3815	KIT	Uncertain significance	rs752354428	RCV000548330;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589773	55589773	G	A	4:g.55589773G>A	ClinGen:CA2923444	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1255G>T (p.Asp419Tyr)	3815	KIT	Uncertain significance	rs752354428	RCV001010577\|RCV001234092;	N	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	4	55589773	55589773	G	T	4:g.55589773G>T	-
NM_000222.3(KIT):c.1255G>C (p.Asp419His)	3815	KIT	Uncertain significance	rs752354428	RCV001314806;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589773	55589773	G	C	55589773	-
NM_000222.3(KIT):c.1256A>G (p.Asp419Gly)	3815	KIT	Uncertain significance	-1	RCV001867346;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589774	55589774	A	G	55589774	-
NM_000222.3(KIT):c.1257C>T (p.Asp419=)	3815	KIT	Likely benign	rs1165367332	RCV000529028;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589775	55589775	C	T	4:g.55589775C>T	ClinGen:CA439289555	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1263_1265dup (p.Val422dup)	3815	KIT	Uncertain significance	rs587778434	RCV000121323\|RCV001058335;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589779	55589780	C	CTCG	4:g.55589779_55589780insTCG	ClinGen:CA160377	CN169374 not specified;
NM_000222.3(KIT):c.1261C>T (p.Leu421Phe)	3815	KIT	Uncertain significance	rs1560414379	RCV000701274;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589779	55589779	C	T	NC_000004.11:g.55589779C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1261C>A (p.Leu421Ile)	3815	KIT	Uncertain significance	-1	RCV001366418;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589779	55589779	C	A	55589779	-
NM_000222.3(KIT):c.1263C>T (p.Leu421=)	3815	KIT	Likely benign	rs1553891010	RCV000633875;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589781	55589781	C	T	4:g.55589781C>T	ClinGen:CA439289583	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1264G>A (p.Val422Met)	3815	KIT	Conflicting interpretations of pathogenicity	rs1560414398	RCV000699413\|RCV001010625\|RCV001145327\|RCV001145326;	N	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 Ontology:HP:0007443,Huma	4	55589782	55589782	G	A	NC_000004.11:g.55589782G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1272C>T (p.Gly424=)	3815	KIT	Uncertain significance	rs1553891012	RCV000541057;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589790	55589790	C	T	NC_000004.11:g.55589790C>T	ClinGen:CA439289618	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1273A>G (p.Met425Val)	3815	KIT	Uncertain significance	-1	RCV001949775;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589791	55589791	A	G	55589791	-
NM_000222.3(KIT):c.1274T>A (p.Met425Lys)	3815	KIT	Uncertain significance	rs878853760	RCV000229208\|RCV000315366\|RCV000368628;	N	Human 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:C00800	4	55589792	55589792	T	A	NC_000004.11:g.55589792T>A	ClinGen:CA10582259	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1274T>C (p.Met425Thr)	3815	KIT	Uncertain significance	rs878853760	RCV001348475;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589792	55589792	T	C	55589792	-
NM_000222.3(KIT):c.1275G>A (p.Met425Ile)	3815	KIT	Uncertain significance	rs1560414419	RCV000697745;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589793	55589793	G	A	4:g.55589793G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1276C>A (p.Leu426Ile)	3815	KIT	Uncertain significance	rs758061831	RCV000468923;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589794	55589794	C	A	NC_000004.11:g.55589794C>A	ClinGen:CA16611551	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1276C>G (p.Leu426Val)	3815	KIT	Uncertain significance	rs758061831	RCV001040431;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589794	55589794	C	G	4:g.55589794C>G	-
NM_000222.3(KIT):c.1278C>G (p.Leu426=)	3815	KIT	Likely benign	-1	RCV002101790;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589796	55589796	C	G	55589796	-
NM_000222.3(KIT):c.1278C>T (p.Leu426=)	3815	KIT	Likely benign	-1	RCV002161666;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589796	55589796	C	T	55589796	-
NM_000222.3(KIT):c.1280A>T (p.Gln427Leu)	3815	KIT	Uncertain significance	rs1560414436	RCV000705628;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589798	55589798	A	T	4:g.55589798A>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1280A>G (p.Gln427Arg)	3815	KIT	Uncertain significance	-1	RCV002033405;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589798	55589798	A	G	55589798	-
NM_000222.3(KIT):c.1281A>T (p.Gln427His)	3815	KIT	Uncertain significance	rs376889675	RCV001052482;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589799	55589799	A	T	4:g.55589799A>T	-
NM_000222.3(KIT):c.1281A>G (p.Gln427=)	3815	KIT	Uncertain significance	rs376889675	RCV001209001;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589799	55589799	A	G	4:g.55589799A>G	-
NM_000222.3(KIT):c.1285G>C (p.Val429Leu)	3815	KIT	Uncertain significance	rs1722031307	RCV001034725;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589803	55589803	G	C	4:g.55589803G>C	-
NM_000222.3(KIT):c.1285G>A (p.Val429Met)	3815	KIT	Uncertain significance	-1	RCV001922448;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589803	55589803	G	A	55589803	-
NM_000222.3(KIT):c.1287G>A (p.Val429=)	3815	KIT	Uncertain significance	rs563667772	RCV001233464;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589805	55589805	G	A	4:g.55589805G>A	-
NM_000222.3(KIT):c.1288G>A (p.Ala430Thr)	3815	KIT	Uncertain significance	rs1060502540	RCV000477352;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589806	55589806	G	A	NC_000004.11:g.55589806G>A	ClinGen:CA16611595	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1289C>T (p.Ala430Val)	3815	KIT	Uncertain significance	rs1722031777	RCV001326027;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589807	55589807	C	T	55589807	-
NM_000222.3(KIT):c.1290A>G (p.Ala430=)	3815	KIT	Benign/Likely benign	rs55966164	RCV000233334\|RCV001010783\|RCV001085838;	N	MedGen: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	4	55589808	55589808	A	G	4:g.55589808A>G	ClinGen:CA2923448	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1291G>A (p.Ala431Thr)	3815	KIT	Uncertain significance	rs962542157	RCV000797643;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589809	55589809	G	A	4:g.55589809G>A	-
NM_000222.3(KIT):c.1291G>T (p.Ala431Ser)	3815	KIT	Uncertain significance	-1	RCV001963838;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589809	55589809	G	T	55589809	-
NM_000222.3(KIT):c.1296A>T (p.Gly432=)	3815	KIT	Likely benign	rs781686359	RCV000226034;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589814	55589814	A	T	NC_000004.11:g.55589814A>T	ClinGen:CA10582260	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1296A>G (p.Gly432=)	3815	KIT	Likely benign	rs781686359	RCV000553679;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589814	55589814	A	G	NC_000004.11:g.55589814A>G	ClinGen:CA2923449	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1298T>C (p.Phe433Ser)	3815	KIT	Uncertain significance	rs1577988844	RCV000799661;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589816	55589816	T	C	4:g.55589816T>C	-
NM_000222.3(KIT):c.1302A>G (p.Pro434=)	3815	KIT	Likely benign	rs770157148	RCV000633932;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589820	55589820	A	G	4:g.55589820A>G	ClinGen:CA2923451	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1304A>C (p.Glu435Ala)	3815	KIT	Uncertain significance	-1	RCV002031888;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589822	55589822	A	C	55589822	-
NM_000222.3(KIT):c.1312A>G (p.Ile438Val)	3815	KIT	Uncertain significance	rs780382854	RCV000695498;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589830	55589830	A	G	NC_000004.11:g.55589830A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1316A>T (p.Asp439Val)	3815	KIT	Uncertain significance	rs1476141776	RCV001038192;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589834	55589834	A	T	4:g.55589834A>T	-
NM_000222.3(KIT):c.1316A>G (p.Asp439Gly)	3815	KIT	Uncertain significance	-1	RCV001887074;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589834	55589834	A	G	55589834	-
NM_000222.3(KIT):c.1317T>C (p.Asp439=)	3815	KIT	Likely benign	rs144185800	RCV000525272;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589835	55589835	T	C	4:g.55589835T>C	ClinGen:CA2923453	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1323T>C (p.Tyr441=)	3815	KIT	Likely benign	-1	RCV001484926;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589841	55589841	T	C	55589841	-
NM_000222.3(KIT):c.1326T>A (p.Phe442Leu)	3815	KIT	Uncertain significance	rs1553891024	RCV000633846;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589844	55589844	T	A	4:g.55589844T>A	ClinGen:CA356905742	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1328G>C (p.Cys443Ser)	3815	KIT	Uncertain significance	-1	RCV002006363;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589846	55589846	G	C	55589846	-
NM_000222.3(KIT):c.1329T>C (p.Cys443=)	3815	KIT	Likely benign	-1	RCV001409093;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589847	55589847	T	C	55589847	-
NM_000222.3(KIT):c.1330C>T (p.Pro444Ser)	3815	KIT	Uncertain significance	-1	RCV001910695;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589848	55589848	C	T	55589848	-
NM_000222.3(KIT):c.1331C>T (p.Pro444Leu)	3815	KIT	Uncertain significance	-1	RCV002024454;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589849	55589849	C	T	55589849	-
NM_000222.3(KIT):c.1336A>G (p.Thr446Ala)	3815	KIT	Uncertain significance	rs1351743650	RCV000633847;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589854	55589854	A	G	4:g.55589854A>G	ClinGen:CA356905765	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1337C>A (p.Thr446Asn)	3815	KIT	Uncertain significance	rs761984908	RCV000805048;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589855	55589855	C	A	4:g.55589855C>A	-
NM_000222.3(KIT):c.1344G>C (p.Gln448His)	3815	KIT	Uncertain significance	rs542718349	RCV000542414;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589862	55589862	G	C	NC_000004.11:g.55589862G>C	ClinGen:CA2923457	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1344G>A (p.Gln448=)	3815	KIT	Likely benign	rs542718349	RCV000633892;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589862	55589862	G	A	4:g.55589862G>A	ClinGen:CA2923458	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1346+6A>G	3815	KIT	Uncertain significance	rs893710756	RCV001319766;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589870	55589870	A	G	55589870	-
NM_000222.3(KIT):c.1346+7T>C	3815	KIT	Likely benign	rs199510933	RCV000229868;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589871	55589871	T	C	NC_000004.11:g.55589871T>C	ClinGen:CA2923459	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1346+8G>A	3815	KIT	Likely benign	-1	RCV002187387;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589872	55589872	G	A	55589872	-
NM_000222.3(KIT):c.1346+11T>G	3815	KIT	Likely benign	-1	RCV002094685;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589875	55589875	T	G	55589875	-
NM_000222.3(KIT):c.1346+17del	3815	KIT	Benign	-1	RCV002190321;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589877	55589877	AT	A	55589876	-
NM_000222.3(KIT):c.1346+19_1346+24del	3815	KIT	Likely benign	-1	RCV002177320;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589881	55589886	TTGGCAC	T	55589880	-
NM_000222.3(KIT):c.1346+17T>G	3815	KIT	Likely benign	-1	RCV002109443;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589881	55589881	T	G	55589881	-
NM_000222.3(KIT):c.1346+19G>C	3815	KIT	Likely benign	-1	RCV002124483;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55589883	55589883	G	C	55589883	-
NM_000222.3(KIT):c.1347-12T>C	3815	KIT	Likely benign	-1	RCV002082175;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592011	55592011	T	C	55592011	-
NM_000222.3(KIT):c.1347-8C>G	3815	KIT	Likely benign	rs1577992011	RCV000983232\|RCV001491947;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592015	55592015	C	G	4:g.55592015C>G	-
NM_000222.3(KIT):c.1347-7C>A	3815	KIT	Likely benign	rs1577992021	RCV000878088\|RCV001440770;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592016	55592016	C	A	4:g.55592016C>A	-
NM_000222.3(KIT):c.1347-7C>T	3815	KIT	Likely benign	-1	RCV001397730;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592016	55592016	C	T	55592016	-
NM_000222.3(KIT):c.1347-5T>C	3815	KIT	Likely benign	rs1553891394	RCV000554415;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592018	55592018	T	C	4:g.55592018T>C	ClinGen:CA658655853	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1351T>C (p.Ser451Pro)	3815	KIT	Uncertain significance	rs145183977	RCV000462044\|RCV001011082;	N	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	4	55592027	55592027	T	C	NC_000004.11:g.55592027T>C	ClinGen:CA2923476	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1352C>T (p.Ser451Phe)	3815	KIT	Uncertain significance	rs1060502556	RCV000461759;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592028	55592028	C	T	NC_000004.11:g.55592028C>T	ClinGen:CA16611498	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1356T>C (p.Ala452=)	3815	KIT	Likely benign	-1	RCV001465237;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592032	55592032	T	C	55592032	-
NM_000222.3(KIT):c.1357T>G (p.Ser453Ala)	3815	KIT	Uncertain significance	rs1722183922	RCV001042251;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592033	55592033	T	G	4:g.55592033T>G	-
NM_000222.3(KIT):c.1359T>G (p.Ser453=)	3815	KIT	Likely benign	rs769828541	RCV000633896;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592035	55592035	T	G	4:g.55592035T>G	ClinGen:CA2923477	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1359T>C (p.Ser453=)	3815	KIT	Likely benign	-1	RCV001506847;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592035	55592035	T	C	55592035	-
NM_000222.3(KIT):c.1360G>C (p.Val454Leu)	3815	KIT	Uncertain significance	rs1560415938	RCV000688276;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592036	55592036	G	C	NC_000004.11:g.55592036G>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1363C>T (p.Leu455=)	3815	KIT	Likely benign	-1	RCV001430143;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592039	55592039	C	T	55592039	-
NM_000222.3(KIT):c.1364T>G (p.Leu455Arg)	3815	KIT	Uncertain significance	-1	RCV001958408;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592040	55592040	T	G	55592040	-
NM_000222.3(KIT):c.1365G>A (p.Leu455=)	3815	KIT	Likely benign	-1	RCV002172683;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592041	55592041	G	A	55592041	-
NM_000222.3(KIT):c.1368A>G (p.Pro456=)	3815	KIT	Likely benign	rs1577992102	RCV000937574;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592044	55592044	A	G	4:g.55592044A>G	-
NM_000222.3(KIT):c.1372_1377del (p.Asp458_Val459del)	3815	KIT	Uncertain significance	-1	RCV002010508;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592045	55592050	AGTGGAT	A	55592044	-
NM_000222.3(KIT):c.1372G>A (p.Asp458Asn)	3815	KIT	Uncertain significance	-1	RCV001900940;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592048	55592048	G	A	55592048	-
NM_000222.3(KIT):c.1373A>T (p.Asp458Val)	3815	KIT	Uncertain significance	rs1553891403	RCV000633836;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592049	55592049	A	T	4:g.55592049A>T	ClinGen:CA356906260	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1373A>G (p.Asp458Gly)	3815	KIT	Uncertain significance	-1	RCV001890998;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592049	55592049	A	G	55592049	-
NM_000222.3(KIT):c.1375G>A (p.Val459Met)	3815	KIT	Uncertain significance	rs1722185482	RCV001339908;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592051	55592051	G	A	55592051	-
NM_000222.3(KIT):c.1376T>C (p.Val459Ala)	3815	KIT	Uncertain significance	rs1722185671	RCV001070716;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592052	55592052	T	C	4:g.55592052T>C	-
NM_000222.3(KIT):c.1376T>G (p.Val459Gly)	3815	KIT	Uncertain significance	rs1722185671	RCV001201455;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592052	55592052	T	G	4:g.55592052T>G	-
NM_000222.3(KIT):c.1378C>G (p.Gln460Glu)	3815	KIT	Uncertain significance	-1	RCV001978686;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592054	55592054	C	G	55592054	-
NM_000222.3(KIT):c.1383A>G (p.Thr461=)	3815	KIT	Conflicting interpretations of pathogenicity	rs151016327	RCV000232720\|RCV001147269\|RCV001147270\|RCV001312041\|RCV001818565\|RCV001011293;	N	Human 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 On	4	55592059	55592059	A	G	4:g.55592059A>G	ClinGen:CA2923480	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1384C>A (p.Leu462Ile)	3815	KIT	Uncertain significance	rs1722186242	RCV001060739;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592060	55592060	C	A	4:g.55592060C>A	-
NM_000222.3(KIT):c.1387A>C (p.Asn463His)	3815	KIT	Uncertain significance	rs1577992151	RCV000797827;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592063	55592063	A	C	4:g.55592063A>C	-
NM_000222.3(KIT):c.1392A>C (p.Ser464=)	3815	KIT	Likely benign	-1	RCV002153977;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592068	55592068	A	C	55592068	-
NM_000222.3(KIT):c.1396G>A (p.Gly466Arg)	3815	KIT	Uncertain significance	rs1282859149	RCV000633737;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592072	55592072	G	A	NC_000004.11:g.55592072G>A	ClinGen:CA356906307	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1399C>T (p.Pro467Ser)	3815	KIT	Uncertain significance	rs1722187399	RCV001300905;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592075	55592075	C	T	55592075	-
NM_000222.3(KIT):c.1403C>T (p.Pro468Leu)	3815	KIT	Uncertain significance	rs200518498	RCV000034503\|RCV000543221;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592079	55592079	C	T	4:g.55592079C>T	ClinGen:CA215584	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1403C>A (p.Pro468Gln)	3815	KIT	Uncertain significance	rs200518498	RCV000530622;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592079	55592079	C	A	NC_000004.11:g.55592079C>A	ClinGen:CA96874777	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1404G>A (p.Pro468=)	3815	KIT	Likely benign	rs767079772	RCV000473482;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592080	55592080	G	A	NC_000004.11:g.55592080G>A	ClinGen:CA2923484	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1404G>C (p.Pro468=)	3815	KIT	Likely benign	-1	RCV001505296;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592080	55592080	G	C	55592080	-
NM_000222.3(KIT):c.1407T>G (p.Phe469Leu)	3815	KIT	Uncertain significance	rs1553891415	RCV000633718;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592083	55592083	T	G	NC_000004.11:g.55592083T>G	ClinGen:CA356906329	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1408G>A (p.Gly470Arg)	3815	KIT	Uncertain significance	rs749914029	RCV000555782;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592084	55592084	G	A	NC_000004.11:g.55592084G>A	ClinGen:CA2923485	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1411A>C (p.Lys471Gln)	3815	KIT	Uncertain significance	rs1471406283	RCV000687945;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592087	55592087	A	C	4:g.55592087A>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1413G>A (p.Lys471=)	3815	KIT	Likely benign	rs766943473	RCV000938958\|RCV001438162;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592089	55592089	G	A	4:g.55592089G>A	-
NM_000222.3(KIT):c.1416A>G (p.Leu472=)	3815	KIT	Likely benign	rs934899537	RCV000475540;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592092	55592092	A	G	NC_000004.11:g.55592092A>G	ClinGen:CA16611499	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1424A>T (p.Gln475Leu)	3815	KIT	Uncertain significance	rs1577992299	RCV000823617;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592100	55592100	A	T	4:g.55592100A>T	-
NM_000222.3(KIT):c.1426A>G (p.Ser476Gly)	3815	KIT	Uncertain significance	-1	RCV001371219;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592102	55592102	A	G	55592102	-
NM_000222.3(KIT):c.1430C>T (p.Ser477Phe)	3815	KIT	Uncertain significance	-1	RCV001992464;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592106	55592106	C	T	55592106	-
NM_000222.3(KIT):c.1432A>G (p.Ile478Val)	3815	KIT	Uncertain significance	rs1185109256	RCV000531378;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592108	55592108	A	G	NC_000004.11:g.55592108A>G	ClinGen:CA356906381	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1434A>T (p.Ile478=)	3815	KIT	Likely benign	-1	RCV001447568;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592110	55592110	A	T	55592110	-
NM_000222.3(KIT):c.1438T>G (p.Ser480Ala)	3815	KIT	Uncertain significance	rs1417993831	RCV001048226;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592114	55592114	T	G	4:g.55592114T>G	-
NM_000222.3(KIT):c.1440T>C (p.Ser480=)	3815	KIT	Likely benign	rs1577992342	RCV000928480\|RCV001473349;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592116	55592116	T	C	4:g.55592116T>C	-
NM_000222.3(KIT):c.1442G>A (p.Ser481Asn)	3815	KIT	Uncertain significance	-1	RCV001965910;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592118	55592118	G	A	55592118	-
NM_000222.3(KIT):c.1443T>G (p.Ser481Arg)	3815	KIT	Uncertain significance	rs1553891429	RCV000633741;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592119	55592119	T	G	4:g.55592119T>G	ClinGen:CA356906407	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1443T>C (p.Ser481=)	3815	KIT	Likely benign	-1	RCV002184129;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592119	55592119	T	C	55592119	-
NM_000222.3(KIT):c.1444G>A (p.Ala482Thr)	3815	KIT	Uncertain significance	rs1060502569	RCV000468856\|RCV001011615;	N	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	4	55592120	55592120	G	A	NC_000004.11:g.55592120G>A	ClinGen:CA16611597	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1444G>T (p.Ala482Ser)	3815	KIT	Uncertain significance	rs1060502569	RCV001064091;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592120	55592120	G	T	4:g.55592120G>T	-
NM_000222.3(KIT):c.1445C>A (p.Ala482Glu)	3815	KIT	Uncertain significance	-1	RCV001907952;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592121	55592121	C	A	55592121	-
NM_000222.3(KIT):c.1446A>C (p.Ala482=)	3815	KIT	Likely benign	-1	RCV001429190;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592122	55592122	A	C	55592122	-
NM_000222.3(KIT):c.1446A>G (p.Ala482=)	3815	KIT	Likely benign	-1	RCV001475031;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592122	55592122	A	G	55592122	-
NM_000222.3(KIT):c.1449C>G (p.Phe483Leu)	3815	KIT	Uncertain significance	rs1722191573	RCV001051304;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592125	55592125	C	G	4:g.55592125C>G	-
NM_000222.3(KIT):c.1453C>T (p.His485Tyr)	3815	KIT	Uncertain significance	rs1553891437	RCV000544008;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592129	55592129	C	T	4:g.55592129C>T	ClinGen:CA356906431	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1454A>C (p.His485Pro)	3815	KIT	Uncertain significance	rs1553891439	RCV000556537;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592130	55592130	A	C	NC_000004.11:g.55592130A>C	ClinGen:CA356906432	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1455C>A (p.His485Gln)	3815	KIT	Uncertain significance	-1	RCV001369882;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592131	55592131	C	A	55592131	-
NM_000222.3(KIT):c.1455C>T (p.His485=)	3815	KIT	Likely benign	-1	RCV001439580;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592131	55592131	C	T	55592131	-
NM_000222.3(KIT):c.1461C>G (p.Gly487=)	3815	KIT	Likely benign	rs1048122979	RCV000471161;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592137	55592137	C	G	NC_000004.11:g.55592137C>G	ClinGen:CA16611598	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1461C>T (p.Gly487=)	3815	KIT	Uncertain significance	-1	RCV001972160;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592137	55592137	C	T	55592137	-
NM_000222.3(KIT):c.1462A>C (p.Thr488Pro)	3815	KIT	Uncertain significance	rs748451770	RCV000801453;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592138	55592138	A	C	4:g.55592138A>C	-
NM_000222.3(KIT):c.1463C>T (p.Thr488Met)	3815	KIT	Uncertain significance	rs56225530	RCV000696644;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592139	55592139	C	T	NC_000004.11:g.55592139C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1464G>A (p.Thr488=)	3815	KIT	Likely benign	rs878853761	RCV000227849;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592140	55592140	G	A	NC_000004.11:g.55592140G>A	ClinGen:CA10582261	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1464G>C (p.Thr488=)	3815	KIT	Likely benign	-1	RCV001503383;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592140	55592140	G	C	55592140	-
NM_000222.3(KIT):c.1471T>C (p.Cys491Arg)	3815	KIT	Uncertain significance	rs1722194127	RCV001296683;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592147	55592147	T	C	55592147	-
NM_000222.3(KIT):c.1477G>A (p.Ala493Thr)	3815	KIT	Uncertain significance	rs1577992484	RCV000791862;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592153	55592153	G	A	4:g.55592153G>A	-
NM_000222.3(KIT):c.1480T>A (p.Tyr494Asn)	3815	KIT	Uncertain significance	-1	RCV001991399;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592156	55592156	T	A	55592156	-
NM_000222.3(KIT):c.1482C>T (p.Tyr494=)	3815	KIT	Likely benign	-1	RCV001412958;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592158	55592158	C	T	55592158	-
NM_000222.3(KIT):c.1482C>A (p.Tyr494Ter)	3815	KIT	Pathogenic	-1	RCV001993175;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592158	55592158	C	A	55592158	-
NM_000222.3(KIT):c.1485C>T (p.Asn495=)	3815	KIT	Likely benign	rs775498908	RCV000876636;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592161	55592161	C	T	4:g.55592161C>T	-
NM_000222.3(KIT):c.1486G>A (p.Asp496Asn)	3815	KIT	Uncertain significance	rs143179681	RCV000463995\|RCV001011822;	N	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	4	55592162	55592162	G	A	NC_000004.11:g.55592162G>A	ClinGen:CA2923497	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1488T>C (p.Asp496=)	3815	KIT	Likely benign	rs1577992515	RCV000976285\|RCV001484787;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592164	55592164	T	C	4:g.55592164T>C	-
NM_000222.3(KIT):c.1489G>T (p.Val497Leu)	3815	KIT	Uncertain significance	rs1439977705	RCV000699193;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592165	55592165	G	T	4:g.55592165G>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1489G>C (p.Val497Leu)	3815	KIT	Uncertain significance	rs1439977705	RCV000687137;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592165	55592165	G	C	4:g.55592165G>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1497G>A (p.Lys499=)	3815	KIT	Likely benign	rs374432699	RCV000557343\|RCV001011792;	N	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	4	55592173	55592173	G	A	4:g.55592173G>A	ClinGen:CA2923499	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1499C>G (p.Thr500Ser)	3815	KIT	Uncertain significance	-1	RCV001372982;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592175	55592175	C	G	55592175	-
NM_000222.3(KIT):c.1500T>C (p.Thr500=)	3815	KIT	Likely benign	rs1553891462	RCV000633878\|RCV001393126;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592176	55592176	T	C	4:g.55592176T>C	ClinGen:CA439290855	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1505C>T (p.Ala502Val)	3815	KIT	Uncertain significance	-1	RCV001954999;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592181	55592181	C	T	55592181	-
NM_000222.3(KIT):c.1506C>T (p.Ala502=)	3815	KIT	Likely benign	rs1060504652	RCV000464758\|RCV001397469;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592182	55592182	C	T	NC_000004.11:g.55592182C>T	ClinGen:CA16611501	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1512T>C (p.Phe504=)	3815	KIT	Likely benign	-1	RCV002194256;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592188	55592188	T	C	55592188	-
NM_000222.3(KIT):c.1517T>C (p.Phe506Ser)	3815	KIT	Uncertain significance	rs1722196973	RCV001312877;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592193	55592193	T	C	55592193	-
NM_000222.3(KIT):c.1518T>C (p.Phe506=)	3815	KIT	Likely benign	-1	RCV002088734;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592194	55592194	T	C	55592194	-
NM_000222.3(KIT):c.1519G>T (p.Ala507Ser)	3815	KIT	Uncertain significance	-1	RCV001371367;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592195	55592195	G	T	55592195	-
NM_000222.3(KIT):c.1521A>T (p.Ala507=)	3815	KIT	Likely benign	-1	RCV001416919;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592197	55592197	A	T	55592197	-
NM_000222.3(KIT):c.1522T>A (p.Phe508Ile)	3815	KIT	Uncertain significance	-1	RCV001887808;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592198	55592198	T	A	55592198	-
NM_000222.3(KIT):c.1523T>G (p.Phe508Cys)	3815	KIT	Uncertain significance	-1	RCV001907742;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592199	55592199	T	G	55592199	-
NM_000222.3(KIT):c.1526A>T (p.Lys509Ile)	3815	KIT	Pathogenic	rs1577992594	RCV000806616;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592202	55592202	A	T	4:g.55592202A>T	-
NM_000222.3(KIT):c.1529G>A (p.Gly510Asp)	3815	KIT	Uncertain significance	-1	RCV001361120;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592205	55592205	G	A	55592205	-
NM_000222.3(KIT):c.1533C>T (p.Asn511=)	3815	KIT	Likely benign	rs1232688220	RCV000866259;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592209	55592209	C	T	4:g.55592209C>T	-
NM_000222.3(KIT):c.1533C>A (p.Asn511Lys)	3815	KIT	Uncertain significance	rs1232688220	RCV001294378;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592209	55592209	C	A	55592209	-
NM_000222.3(KIT):c.1535A>G (p.Asn512Ser)	3815	KIT	Uncertain significance	-1	RCV001926917;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592211	55592211	A	G	55592211	-
NM_000222.3(KIT):c.1536C>T (p.Asn512=)	3815	KIT	Likely benign	-1	RCV002097715;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592212	55592212	C	T	55592212	-
NM_000222.3(KIT):c.1538A>G (p.Lys513Arg)	3815	KIT	Uncertain significance	-1	RCV001367128;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592214	55592214	A	G	55592214	-
NM_000222.3(KIT):c.1539A>G (p.Lys513=)	3815	KIT	Uncertain significance	rs1560416214	RCV000690128;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592215	55592215	A	G	4:g.55592215A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1540+1G>A	3815	KIT	Likely pathogenic	-1	RCV002011377;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592217	55592217	G	A	55592217	-
NM_000222.3(KIT):c.1540+2T>C	3815	KIT	Likely pathogenic	rs760183633	RCV001237796;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592218	55592218	T	C	4:g.55592218T>C	-
NM_000222.3(KIT):c.1540+3A>G	3815	KIT	Uncertain significance	-1	RCV001976811;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592219	55592219	A	G	55592219	-
NM_000222.3(KIT):c.1540+6T>C	3815	KIT	Uncertain significance	rs1722199031	RCV001210481;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592222	55592222	T	C	4:g.55592222T>C	-
NM_000222.3(KIT):c.1540+9C>A	3815	KIT	Likely benign	rs1553891480	RCV000633916;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592225	55592225	C	A	4:g.55592225C>A	ClinGen:CA658796441	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1540+14T>G	3815	KIT	Likely benign	-1	RCV002214765;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55592230	55592230	T	G	55592230	-
NC_000004.11:g.(?_55593374)_(55604723_?)dup	3815	KIT	Uncertain significance	-1	RCV002011586;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593374	55604723	na	na	-1	-
NM_000222.3(KIT):c.1541-9C>G	3815	KIT	Likely benign	rs1577994237	RCV000931919\|RCV001476954;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593375	55593375	C	G	4:g.55593375C>G	-
NM_000222.3(KIT):c.1541-8C>T	3815	KIT	Likely benign	rs367739763	RCV000229566;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593376	55593376	C	T	NC_000004.11:g.55593376C>T	ClinGen:CA2923521	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1541-7A>G	3815	KIT	Likely benign	rs1577994249	RCV000981455;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593377	55593377	A	G	4:g.55593377A>G	-
NM_000222.3(KIT):c.1541-6T>C	3815	KIT	Likely benign	rs1577994260	RCV000929390\|RCV001474658;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593378	55593378	T	C	4:g.55593378T>C	-
NM_000222.3(KIT):c.1541-5T>C	3815	KIT	Likely benign	-1	RCV002143176;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593379	55593379	T	C	55593379	-
NM_000222.3(KIT):c.1541-4G>A	3815	KIT	Likely benign	-1	RCV001496857;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593380	55593380	G	A	55593380	-
NM_000222.3(KIT):c.1541-3T>C	3815	KIT	Uncertain significance	rs1577994268	RCV000803418;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593381	55593381	T	C	4:g.55593381T>C	-
NM_000222.3(KIT):c.1541-1G>A	3815	KIT	Likely pathogenic	-1	RCV002023809;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593383	55593383	G	A	55593383	-
NM_000222.3(KIT):c.1542G>A (p.Glu514=)	3815	KIT	Likely benign	rs1475881614	RCV000633925;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593385	55593385	G	A	NC_000004.11:g.55593385G>A	ClinGen:CA439291154	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1545A>C (p.Gln515His)	3815	KIT	Uncertain significance	rs1722279802	RCV001064095;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593388	55593388	A	C	4:g.55593388A>C	-
NM_000222.3(KIT):c.1549C>T (p.His517Tyr)	3815	KIT	Uncertain significance	rs1577994279	RCV000797914;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593392	55593392	C	T	4:g.55593392C>T	-
NM_000222.3(KIT):c.1552C>T (p.Pro518Ser)	3815	KIT	Uncertain significance	rs1560416964	RCV000692754;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593395	55593395	C	T	4:g.55593395C>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)	3815	KIT	Uncertain significance	rs569408054	RCV000233403\|RCV000764543\|RCV001012095;	N	Human 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:C00800	4	55593396	55593396	C	T	NC_000004.11:g.55593396C>T	ClinGen:CA2923522	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1554C>T (p.Pro518=)	3815	KIT	Likely benign	-1	RCV001473607;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593397	55593397	C	T	55593397	-
NM_000222.3(KIT):c.1554C>G (p.Pro518=)	3815	KIT	Likely benign	-1	RCV002106732;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593397	55593397	C	G	55593397	-
NM_000222.3(KIT):c.1555C>T (p.His519Tyr)	3815	KIT	Uncertain significance	rs370364842	RCV000475580;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593398	55593398	C	T	NC_000004.11:g.55593398C>T	ClinGen:CA2923523	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1557C>A (p.His519Gln)	3815	KIT	Uncertain significance	rs1722281042	RCV001327765;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593400	55593400	C	A	55593400	-
NM_000222.3(KIT):c.1558A>G (p.Thr520Ala)	3815	KIT	Uncertain significance	-1	RCV001927163;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593401	55593401	A	G	55593401	-
NM_000222.3(KIT):c.1559C>T (p.Thr520Ile)	3815	KIT	Uncertain significance	-1	RCV001968090;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593402	55593402	C	T	55593402	-
NM_000222.3(KIT):c.1560C>T (p.Thr520=)	3815	KIT	Likely benign	-1	RCV002172167;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593403	55593403	C	T	55593403	-
NM_000222.3(KIT):c.1564T>A (p.Phe522Ile)	3815	KIT	Uncertain significance	-1	RCV002050069;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593407	55593407	T	A	55593407	-
NM_000222.3(KIT):c.1567A>G (p.Thr523Ala)	3815	KIT	Uncertain significance	rs1326565450	RCV001049662;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593410	55593410	A	G	4:g.55593410A>G	-
NM_000222.3(KIT):c.1568C>T (p.Thr523Ile)	3815	KIT	Uncertain significance	rs772866513	RCV000227249;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593411	55593411	C	T	4:g.55593411C>T	ClinGen:CA2923524	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1576C>T (p.Leu526=)	3815	KIT	Likely benign	rs1553891660	RCV000550703;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593419	55593419	C	T	4:g.55593419C>T	ClinGen:CA439291179	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1579A>C (p.Ile527Leu)	3815	KIT	Uncertain significance	rs1722282395	RCV001209245;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593422	55593422	A	C	4:g.55593422A>C	-
NM_000222.3(KIT):c.1580T>C (p.Ile527Thr)	3815	KIT	Uncertain significance	-1	RCV001990260;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593423	55593423	T	C	55593423	-
NM_000222.3(KIT):c.1581T>G (p.Ile527Met)	3815	KIT	Uncertain significance	-1	RCV001905956;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593424	55593424	T	G	55593424	-
NM_000222.3(KIT):c.1582G>A (p.Gly528Ser)	3815	KIT	Uncertain significance	rs1326606159	RCV000526280;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593425	55593425	G	A	NC_000004.11:g.55593425G>A	ClinGen:CA356907002	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1583G>A (p.Gly528Asp)	3815	KIT	Uncertain significance	rs1226259110	RCV000701399;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593426	55593426	G	A	4:g.55593426G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1586T>C (p.Phe529Ser)	3815	KIT	Uncertain significance	-1	RCV001952029;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593429	55593429	T	C	55593429	-
NM_000222.3(KIT):c.1586T>G (p.Phe529Cys)	3815	KIT	Uncertain significance	-1	RCV002023975;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593429	55593429	T	G	55593429	-
NM_000222.3(KIT):c.1587C>T (p.Phe529=)	3815	KIT	Likely benign	rs148248559	RCV000231345\|RCV001012197;	N	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	4	55593430	55593430	C	T	4:g.55593430C>T	ClinGen:CA2923526	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)	3815	KIT	Conflicting interpretations of pathogenicity	rs72550822	RCV000121314\|RCV000234206\|RCV001012201\|RCV001148177\|RCV001147271\|RCV001358169;	N	MedGen: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,MedG	4	55593431	55593431	G	A	4:g.55593431G>A	ClinGen:CA160350	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1588G>C (p.Val530Leu)	3815	KIT	Uncertain significance	-1	RCV001954137;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593431	55593431	G	C	55593431	-
NM_000222.3(KIT):c.1593C>T (p.Ile531=)	3815	KIT	Likely benign	rs760143011	RCV000466971;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593436	55593436	C	T	NC_000004.11:g.55593436C>T	ClinGen:CA2923527	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1594G>A (p.Val532Ile)	3815	KIT	Conflicting interpretations of pathogenicity	rs55792975	RCV000227916\|RCV001012312\|RCV001148178\|RCV001148179;	N	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,MedGen:C0024899,Orph	4	55593437	55593437	G	A	4:g.55593437G>A	ClinGen:CA2923528,UniProtKB:P10721#VAR_042021	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1597G>A (p.Ala533Thr)	3815	KIT	Uncertain significance	rs1722284528	RCV001319112;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593440	55593440	G	A	55593440	-
NM_000222.3(KIT):c.1598C>G (p.Ala533Gly)	3815	KIT	Uncertain significance	rs753212327	RCV000206315;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593441	55593441	C	G	NC_000004.11:g.55593441C>G	ClinGen:CA350360	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1603A>G (p.Met535Val)	3815	KIT	Uncertain significance	-1	RCV001874708;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593446	55593446	A	G	55593446	-
NM_000222.3(KIT):c.1604T>C (p.Met535Thr)	3815	KIT	Uncertain significance	rs763411938	RCV000702924\|RCV001012347;	N	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	4	55593447	55593447	T	C	NC_000004.11:g.55593447T>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1605G>A (p.Met535Ile)	3815	KIT	Uncertain significance	-1	RCV001366134;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593448	55593448	G	A	55593448	-
NM_000222.3(KIT):c.1612A>G (p.Ile538Val)	3815	KIT	Uncertain significance	rs1560417124	RCV000688566;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593455	55593455	A	G	4:g.55593455A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1613_1622del (p.Ile538fs)	3815	KIT	Uncertain significance	rs1722286613	RCV001327160;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593456	55593465	ATTATTGTGAT	A	55593455	-
NM_000222.3(KIT):c.1615A>G (p.Ile539Val)	3815	KIT	Uncertain significance	rs1476093811	RCV000699000;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593458	55593458	A	G	4:g.55593458A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1615A>C (p.Ile539Leu)	3815	KIT	Uncertain significance	rs1476093811	RCV001044096;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593458	55593458	A	C	4:g.55593458A>C	-
NM_000222.3(KIT):c.1616T>C (p.Ile539Thr)	3815	KIT	Uncertain significance	rs781371383	RCV000473298\|RCV000660489;	N	Human 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	4	55593459	55593459	T	C	NC_000004.11:g.55593459T>C	ClinGen:CA2923534	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1617T>C (p.Ile539=)	3815	KIT	Likely benign	rs750491922	RCV001012433\|RCV001481823;	N	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	4	55593460	55593460	T	C	4:g.55593460T>C	-
NM_000222.3(KIT):c.1618G>C (p.Val540Leu)	3815	KIT	Uncertain significance	rs756179543	RCV000456229\|RCV001148180\|RCV001148181;	N	Human 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:C00800	4	55593461	55593461	G	C	NC_000004.11:g.55593461G>C	ClinGen:CA2923536	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1618G>A (p.Val540Met)	3815	KIT	Uncertain significance	rs756179543	RCV000815564;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593461	55593461	G	A	4:g.55593461G>A	-
NM_000222.3(KIT):c.1618G>T (p.Val540Leu)	3815	KIT	Uncertain significance	rs756179543	RCV001348069;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593461	55593461	G	T	55593461	-
NM_000222.3(KIT):c.1619T>C (p.Val540Ala)	3815	KIT	Uncertain significance	-1	RCV001929154;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593462	55593462	T	C	55593462	-
NM_000222.3(KIT):c.1620G>A (p.Val540=)	3815	KIT	Likely benign	-1	RCV002209396;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593463	55593463	G	A	55593463	-
NM_000222.3(KIT):c.1621A>T (p.Met541Leu)	3815	KIT	Likely benign	rs3822214	RCV000887556\|RCV001012440;	N	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	4	55593464	55593464	A	T	4:g.55593464A>T	-
NM_000222.3(KIT):c.1622T>C (p.Met541Thr)	3815	KIT	Uncertain significance	-1	RCV002020821;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593465	55593465	T	C	55593465	-
NM_000222.3(KIT):c.1623G>C (p.Met541Ile)	3815	KIT	Likely benign	-1	RCV001472717;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593466	55593466	G	C	55593466	-
NM_000222.3(KIT):c.1624A>T (p.Ile542Phe)	3815	KIT	Uncertain significance	rs1553891698	RCV000527630;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593467	55593467	A	T	NC_000004.11:g.55593467A>T	ClinGen:CA356907347	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1626T>G (p.Ile542Met)	3815	KIT	Uncertain significance	rs1722288511	RCV001323589;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593469	55593469	T	G	55593469	-
NM_000222.3(KIT):c.1629G>C (p.Leu543=)	3815	KIT	Likely benign	-1	RCV001460363;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593472	55593472	G	C	55593472	-
NM_000222.3(KIT):c.1631C>T (p.Thr544Ile)	3815	KIT	Uncertain significance	rs1577994552	RCV000822175;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593474	55593474	C	T	4:g.55593474C>T	-
NM_000222.3(KIT):c.1632C>T (p.Thr544=)	3815	KIT	Likely benign	-1	RCV002157859;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593475	55593475	C	T	55593475	-
NM_000222.3(KIT):c.1632C>G (p.Thr544=)	3815	KIT	Likely benign	-1	RCV002162461;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593475	55593475	C	G	55593475	-
NM_000222.3(KIT):c.1635C>T (p.Tyr545=)	3815	KIT	Likely benign	rs374123328	RCV000904245\|RCV001490058;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593478	55593478	C	T	4:g.55593478C>T	-
NM_000222.3(KIT):c.1637A>G (p.Lys546Arg)	3815	KIT	Uncertain significance	rs1722289602	RCV001309791;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593480	55593480	A	G	55593480	-
NM_000222.3(KIT):c.1637A>T (p.Lys546Ile)	3815	KIT	Uncertain significance	-1	RCV001971466;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593480	55593480	A	T	55593480	-
NM_000222.3(KIT):c.1638A>T (p.Lys546Asn)	3815	KIT	Uncertain significance	rs55986963	RCV000822440;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593481	55593481	A	T	4:g.55593481A>T	-
NM_000222.3(KIT):c.1641T>C (p.Tyr547=)	3815	KIT	Likely benign	rs746718824	RCV000633861\|RCV001409447;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593484	55593484	T	C	4:g.55593484T>C	ClinGen:CA2923540	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1647+4A>G	3815	KIT	Uncertain significance	rs770472485	RCV001324298;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593494	55593494	A	G	55593494	-
NM_000222.3(KIT):c.1647+5C>A	3815	KIT	Uncertain significance	rs553336667	RCV001312658;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593495	55593495	C	A	55593495	-
NM_000222.3(KIT):c.1647+5C>T	3815	KIT	Uncertain significance	-1	RCV001863818;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593495	55593495	C	T	55593495	-
NM_000222.3(KIT):c.1647+6C>A	3815	KIT	Uncertain significance	rs1321589360	RCV001294873;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593496	55593496	C	A	55593496	-
NM_000222.3(KIT):c.1647+7A>C	3815	KIT	Likely benign	rs1060504659	RCV000460899;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593497	55593497	A	C	NC_000004.11:g.55593497A>C	ClinGen:CA16611504	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1647+7A>G	3815	KIT	Likely benign	-1	RCV002122211;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593497	55593497	A	G	55593497	-
NM_000222.3(KIT):c.1647+9T>C	3815	KIT	Likely benign	-1	RCV001463216;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593499	55593499	T	C	55593499	-
NM_000222.3(KIT):c.1647+14_1647+17del	3815	KIT	Likely benign	-1	RCV002212167;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593502	55593505	ATTTG	A	55593501	-
NM_000222.3(KIT):c.1647+15G>T	3815	KIT	Likely benign	-1	RCV002153525;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593505	55593505	G	T	55593505	-
NM_000222.3(KIT):c.1648-15C>T	3815	KIT	Likely benign	-1	RCV002215691;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593567	55593567	C	T	55593567	-
NM_000222.3(KIT):c.1648-11T>C	3815	KIT	Likely benign	-1	RCV001985827;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593571	55593571	T	C	55593571	-
NM_000222.3(KIT):c.1648-10C>T	3815	KIT	Likely benign	rs1198418224	RCV000921956\|RCV001422485;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593572	55593572	C	T	4:g.55593572C>T	-
NM_000222.3(KIT):c.1648-8C>T	3815	KIT	Likely benign	rs949862921	RCV000863073;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593574	55593574	C	T	4:g.55593574C>T	-
NM_000222.3(KIT):c.1648-8C>G	3815	KIT	Likely benign	-1	RCV001436649;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593574	55593574	C	G	55593574	-
NM_000222.3(KIT):c.1648-6C>T	3815	KIT	Likely benign	rs1577994736	RCV000868458\|RCV001484577;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593576	55593576	C	T	4:g.55593576C>T	-
NM_000222.3(KIT):c.1648-3C>T	3815	KIT	Uncertain significance	-1	RCV001888664;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593579	55593579	C	T	55593579	-
NM_000222.2(KIT):c.1648_1674del	3815	KIT	Pathogenic	rs121913234	RCV000014871;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593580	55593606	CAGAAACCCATGTATGAAGTACAGTGGA	C	NC_000004.11:g.55593582_55593608del	ClinGen:CA123524,OMIM:164920.0015	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del)	3815	KIT	Pathogenic	rs587776804	RCV000014868;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593584	55593598	AACCCATGTATGAAGT	A	4:g.55593584_55593598del	ClinGen:CA123519,OMIM:164920.0012	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1651C>A (p.Pro551Thr)	3815	KIT	Uncertain significance	rs1722299272	RCV001039740;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593585	55593585	C	A	4:g.55593585C>A	-
NM_000222.3(KIT):c.1652_1672del (p.Pro551_Lys558delinsGln)	3815	KIT	Likely pathogenic	rs1560417385	RCV000771008;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593586	55593606	CCCATGTATGAAGTACAGTGGA	C	NC_000004.11:g.55593586_55593606del	-
NM_000222.3(KIT):c.1652C>T (p.Pro551Leu)	3815	KIT	Uncertain significance	rs1722299442	RCV001349414;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593586	55593586	C	T	55593586	-
NM_000222.3(KIT):c.1653_1660delinsAA (p.Met552_Glu554delinsLys)	3815	KIT	Likely pathogenic	rs1560417396	RCV000771009;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593587	55593594	CATGTATG	AA	NC_000004.11:g.55593587_55593594delinsAA	-
NM_000222.3(KIT):c.1653C>T (p.Pro551=)	3815	KIT	Likely benign	-1	RCV001468127;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593587	55593587	C	T	55593587	-
NM_000222.3(KIT):c.1654A>G (p.Met552Val)	3815	KIT	Uncertain significance	rs777596975	RCV000807746;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593588	55593588	A	G	4:g.55593588A>G	-
NM_000222.3(KIT):c.1654A>T (p.Met552Leu)	3815	KIT	Uncertain significance	rs777596975	RCV001040056;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593588	55593588	A	T	4:g.55593588A>T	-
NM_000222.3(KIT):c.1655T>C (p.Met552Thr)	3815	KIT	Uncertain significance	rs746805825	RCV000539662;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593589	55593589	T	C	4:g.55593589T>C	ClinGen:CA2923558	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1656G>C (p.Met552Ile)	3815	KIT	Uncertain significance	rs1482011071	RCV001034924;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593590	55593590	G	C	4:g.55593590G>C	-
NM_000222.3(KIT):c.1656G>A (p.Met552Ile)	3815	KIT	Uncertain significance	rs1482011071	RCV001208702;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593590	55593590	G	A	4:g.55593590G>A	-
NM_000222.3(KIT):c.1658A>G (p.Tyr553Cys)	3815	KIT	Uncertain significance	rs1553891726	RCV000552287;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593592	55593592	A	G	4:g.55593592A>G	ClinGen:CA356907437	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1662A>C (p.Glu554Asp)	3815	KIT	Uncertain significance	rs1577994816	RCV000800053;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593596	55593596	A	C	4:g.55593596A>C	-
NM_000222.3(KIT):c.1662A>G (p.Glu554=)	3815	KIT	Likely benign	-1	RCV001401096;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593596	55593596	A	G	55593596	-
NM_000222.3(KIT):c.1665_1672delinsCC (p.Trp557_Lys558del)	3815	KIT	Likely pathogenic	rs1560417427	RCV000771010;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593599	55593606	ACAGTGGA	CC	NC_000004.11:g.55593599_55593606delinsCC	-
NM_000222.3(KIT):c.1666C>G (p.Gln556Glu)	3815	KIT	Uncertain significance	rs1722301014	RCV001338020;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593600	55593600	C	G	55593600	-
NM_000222.3(KIT):c.1666C>T (p.Gln556Ter)	3815	KIT	Pathogenic	-1	RCV001993291;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593600	55593600	C	T	55593600	-
NM_000222.3(KIT):c.1669_1674del (p.Trp557_Lys558del)	3815	KIT	Likely pathogenic	rs869025568	RCV000208566;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593601	55593606	CAGTGGA	C	NC_000004.11:g.55593603_55593608del	ClinGen:CA356974	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1668_1686del (p.Gln556_Trp557insTer)	3815	KIT	Likely pathogenic	rs1560417438	RCV000771011;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593602	55593620	AGTGGAAGGTTGTTGAGGAG	A	NC_000004.11:g.55593602_55593620del	-
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg)	3815	KIT	Likely pathogenic	rs121913235	RCV000425331\|RCV000432558\|RCV000442970;	N	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:HP:0002861,Human	4	55593603	55593603	T	C	4:g.55593603T>C	ClinGen:CA16602392	C0025202 Cutaneous melanoma;
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly)	3815	KIT	Likely pathogenic	rs121913235	RCV000417409;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593603	55593603	T	G	4:g.55593603T>G	ClinGen:CA16603140	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser)	3815	KIT	Uncertain significance	rs1057520032	RCV000438560;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593604	55593604	G	C	4:g.55593604G>C	ClinGen:CA16603139	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1670_1671delinsTT (p.Trp557Phe)	3815	KIT	Likely pathogenic	rs1057520035	RCV000428828;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593604	55593605	GG	TT	NC_000004.11:g.55593604_55593605delinsTT	ClinGen:CA16603144	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1670G>A (p.Trp557Ter)	3815	KIT	Pathogenic	rs1057520032	RCV000541020\|RCV000761057;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:C2698309	4	55593604	55593604	G	A	4:g.55593604G>A	ClinGen:CA356907463	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1671G>C (p.Trp557Cys)	3815	KIT	Likely pathogenic	rs1057520033	RCV000439662;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593605	55593605	G	C	4:g.55593605G>C	ClinGen:CA16603142	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1672A>C (p.Lys558Gln)	3815	KIT	Likely pathogenic	rs1057520031	RCV000428356;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593606	55593606	A	C	4:g.55593606A>C	ClinGen:CA16603138	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1672A>G (p.Lys558Glu)	3815	KIT	Likely pathogenic	rs1057520031	RCV000429441;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593606	55593606	A	G	4:g.55593606A>G	ClinGen:CA16603141	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1674G>A (p.Lys558=)	3815	KIT	Conflicting interpretations of pathogenicity	rs200375589	RCV000205733\|RCV001012605\|RCV001149739\|RCV001149740;	N	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 Ontology:HP:0007443,Huma	4	55593608	55593608	G	A	4:g.55593608G>A	ClinGen:CA349845	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1674G>T (p.Lys558Asn)	3815	KIT	Pathogenic/Likely pathogenic	rs200375589	RCV000426003\|RCV000436617;	N	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 Ontology:HP:00074	4	55593608	55593608	G	T	4:g.55593608G>T	ClinGen:CA16602394	C0025202 Cutaneous melanoma;
NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del)	3815	KIT	Pathogenic	rs121913685	RCV000014858;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593609	55593614	GGTTGTT	G	NC_000004.11:g.55593610_55593615del	ClinGen:CA123504,OMIM:164920.0011	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1675G>A (p.Val559Ile)	3815	KIT	Uncertain significance	rs121913520	RCV000426761\|RCV000436995;	N	MONDO:MONDO:0020076,MedGen:C1292778, Orphanet:98274\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593609	55593609	G	A	4:g.55593609G>A	ClinGen:CA16602523	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1675G>T (p.Val559Phe)	3815	KIT	Uncertain significance	rs121913520	RCV001228656;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593609	55593609	G	T	4:g.55593609G>T	-
NM_000222.3(KIT):c.1676T>A (p.Val559Asp)	3815	KIT	Pathogenic/Likely pathogenic	rs121913517	RCV000014870\|RCV000419360;	N	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 Ontology:HP:00074	4	55593610	55593610	T	A	4:g.55593610T>A	ClinGen:CA123522,UniProtKB:P10721#VAR_033127,OMIM:164920.0014	C0025202 Cutaneous melanoma;
NM_000222.3(KIT):c.1676T>C (p.Val559Ala)	3815	KIT	Pathogenic/Likely pathogenic	rs121913517	RCV000014879\|RCV000420045\|RCV000430728\|RCV000437270\|RCV000663345;	N	MedGen: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:	4	55593610	55593610	T	C	4:g.55593610T>C	ClinGen:CA123545,UniProtKB:P10721#VAR_033126,OMIM:164920.0023	C1136033 Cutaneous mastocytosis;
NM_000222.3(KIT):c.1678_1728del (p.Val560_Leu576del)	3815	KIT	Uncertain significance	rs1553891755	RCV000627073;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593610	55593660	GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAAC	G	4:g.55593610_55593660del	ClinGen:CA645516864	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1676_1720del (p.Val559_Thr574delinsAla)	3815	KIT	Likely pathogenic	rs1560417535	RCV000771012;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593610	55593654	GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA	G	NC_000004.11:g.55593610_55593654del	-
NM_000222.3(KIT):c.1677T>C (p.Val559=)	3815	KIT	Likely benign	-1	RCV002089189;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593611	55593611	T	C	55593611	-
NM_000222.3(KIT):c.1678G>A (p.Val560Ile)	3815	KIT	Uncertain significance	rs1577994961	RCV000794834;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593612	55593612	G	A	4:g.55593612G>A	-
NM_000222.3(KIT):c.1678G>T (p.Val560Phe)	3815	KIT	Uncertain significance	-1	RCV001904526;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593612	55593612	G	T	55593612	-
NM_000222.3(KIT):c.1679_1680inv (p.Val560Glu)	3815	KIT	Likely pathogenic	-1	RCV000422073;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593613	55593614	TT	AA	NC_000004.11:g.55593613_55593614inv	ClinGen:CA16603143	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1681G>A (p.Glu561Lys)	3815	KIT	Uncertain significance	rs1722307003	RCV001047441;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593615	55593615	G	A	4:g.55593615G>A	-
NM_000222.3(KIT):c.1681GAG[1] (p.Glu562del)	3815	KIT	Uncertain significance	rs1722307508	RCV001206767;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593615	55593617	TGAG	T	4:g.55593615_55593617del	-
NM_000222.3(KIT):c.1683G>A (p.Glu561=)	3815	KIT	Likely benign	-1	RCV001428394;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593617	55593617	G	A	55593617	-
NM_000222.3(KIT):c.1686G>C (p.Glu562Asp)	3815	KIT	Uncertain significance	rs1553891764	RCV000633735;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593620	55593620	G	C	NC_000004.11:g.55593620G>C	ClinGen:CA356907490	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1688T>A (p.Ile563Lys)	3815	KIT	Uncertain significance	rs780708976	RCV000553074;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593622	55593622	T	A	4:g.55593622T>A	ClinGen:CA2923559	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1688T>C (p.Ile563Thr)	3815	KIT	Uncertain significance	-1	RCV001931661;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593622	55593622	T	C	55593622	-
NM_000222.3(KIT):c.1689A>G (p.Ile563Met)	3815	KIT	Uncertain significance	rs1553891768	RCV000529216;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593623	55593623	A	G	4:g.55593623A>G	ClinGen:CA356907497	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1690A>T (p.Asn564Tyr)	3815	KIT	Uncertain significance	rs745463319	RCV000700635;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593624	55593624	A	T	4:g.55593624A>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1691A>G (p.Asn564Ser)	3815	KIT	Uncertain significance	rs769483857	RCV001206820;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593625	55593625	A	G	4:g.55593625A>G	-
NM_000222.3(KIT):c.1693G>A (p.Gly565Arg)	3815	KIT	Uncertain significance	-1	RCV002004364;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593627	55593627	G	A	55593627	-
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	3815	KIT	Conflicting interpretations of pathogenicity	rs200945282	RCV000034505\|RCV001080921\|RCV001012676\|RCV001145417\|RCV001145419;	N	MedGen: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,MedG	4	55593628	55593628	G	T	4:g.55593628G>T	ClinGen:CA215587	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1694G>A (p.Gly565Glu)	3815	KIT	Uncertain significance	-1	RCV002002034;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593628	55593628	G	A	55593628	-
NM_000222.3(KIT):c.1697A>G (p.Asn566Ser)	3815	KIT	Uncertain significance	rs1722309800	RCV001068418;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593631	55593631	A	G	4:g.55593631A>G	-
NM_000222.3(KIT):c.1699A>C (p.Asn567His)	3815	KIT	Uncertain significance	rs1722309959	RCV001304482;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593633	55593633	A	C	55593633	-
NM_000222.3(KIT):c.1700A>G (p.Asn567Ser)	3815	KIT	Uncertain significance	rs1016976398	RCV000546381;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593634	55593634	A	G	NC_000004.11:g.55593634A>G	ClinGen:CA96875766	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1700A>T (p.Asn567Ile)	3815	KIT	Uncertain significance	rs1016976398	RCV000702843;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593634	55593634	A	T	4:g.55593634A>T	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1702T>G (p.Tyr568Asp)	3815	KIT	Uncertain significance	-1	RCV001925826;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593636	55593636	T	G	55593636	-
NM_000222.3(KIT):c.1707T>C (p.Val569=)	3815	KIT	Likely benign	-1	RCV001451319;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593641	55593641	T	C	55593641	-
NM_000222.3(KIT):c.1711A>G (p.Ile571Val)	3815	KIT	Uncertain significance	rs587778431	RCV000121315\|RCV000554408;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593645	55593645	A	G	4:g.55593645A>G	ClinGen:CA160353	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1713A>C (p.Ile571=)	3815	KIT	Likely benign	-1	RCV002199263;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593647	55593647	A	C	55593647	-
NM_000222.3(KIT):c.1715_1756dup (p.Arg586_Asn587insAsnProThrGlnLeuProTyrAspHisLysTrpGluPhePro)	3815	KIT	Likely pathogenic	rs1560417642	RCV000771013;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593648	55593649	G	GACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA	NC_000004.11:g.55593649_55593690dup	-
NM_000222.3(KIT):c.1718C>A (p.Pro573Gln)	3815	KIT	Uncertain significance	-1	RCV001936463;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593652	55593652	C	A	55593652	-
NM_000222.3(KIT):c.1720A>G (p.Thr574Ala)	3815	KIT	Uncertain significance	rs1060502550	RCV000464044;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593654	55593654	A	G	NC_000004.11:g.55593654A>G	ClinGen:CA16611506	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1721_1765dup (p.Leu589_Ser590insProGlnLeuProTyrAspHisLysTrpGluPheProArgAsnArg)	3815	KIT	Likely pathogenic	rs1560417666	RCV000771014;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593654	55593655	A	ACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC	NC_000004.11:g.55593655_55593699dup	-
NM_000222.3(KIT):c.1721C>T (p.Thr574Ile)	3815	KIT	Uncertain significance	rs1307097576	RCV000633781;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593655	55593655	C	T	4:g.55593655C>T	ClinGen:CA356907565	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1722_1766dup (p.Gln575_Leu589dup)	3815	KIT	Likely pathogenic	rs1560417673	RCV000771015;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593655	55593656	C	CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT	NC_000004.11:g.55593656_55593700dup	-
NM_000222.3(KIT):c.1725A>G (p.Gln575=)	3815	KIT	Likely benign	rs1025892108	RCV000529865\|RCV001012903;	N	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	4	55593659	55593659	A	G	4:g.55593659A>G	ClinGen:CA96875805	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1726C>G (p.Leu576Val)	3815	KIT	Uncertain significance	rs1313877141	RCV001045417;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593660	55593660	C	G	4:g.55593660C>G	-
NM_000222.3(KIT):c.1726C>T (p.Leu576Phe)	3815	KIT	Uncertain significance	-1	RCV001970242;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593660	55593660	C	T	55593660	-
NM_000222.3(KIT):c.1735_1737del (p.Asp579del)	3815	KIT	Pathogenic	rs1060502543	RCV000458760;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593667	55593669	TATG	T	NC_000004.11:g.55593669_55593671del	ClinGen:CA16611553	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1734T>C (p.Tyr578=)	3815	KIT	Likely benign	-1	RCV001468209;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593668	55593668	T	C	55593668	-
NM_000222.3(KIT):c.1737T>A (p.Asp579Glu)	3815	KIT	Uncertain significance	rs773366034	RCV000815176;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593671	55593671	T	A	4:g.55593671T>A	-
NM_000222.3(KIT):c.1738C>G (p.His580Asp)	3815	KIT	Uncertain significance	rs1437044852	RCV001226360;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593672	55593672	C	G	4:g.55593672C>G	-
NM_000222.3(KIT):c.1738C>T (p.His580Tyr)	3815	KIT	Uncertain significance	rs1437044852	RCV001234636;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593672	55593672	C	T	4:g.55593672C>T	-
NM_000222.3(KIT):c.1749G>A (p.Glu583=)	3815	KIT	Likely benign	-1	RCV001430059;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593683	55593683	G	A	55593683	-
NM_000222.3(KIT):c.1752T>C (p.Phe584=)	3815	KIT	Likely benign	rs794726671	RCV000980442;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593686	55593686	T	C	4:g.55593686T>C	-
NM_000222.3(KIT):c.1760A>G (p.Asn587Ser)	3815	KIT	Uncertain significance	rs1577995255	RCV001205933;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593694	55593694	A	G	4:g.55593694A>G	-
NM_000222.3(KIT):c.1761C>T (p.Asn587=)	3815	KIT	Likely benign	rs1553891809	RCV000546872;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593695	55593695	C	T	NC_000004.11:g.55593695C>T	ClinGen:CA439291286	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1764G>A (p.Arg588=)	3815	KIT	Likely benign	-1	RCV001502670;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593698	55593698	G	A	55593698	-
NM_000222.3(KIT):c.1765C>T (p.Leu589=)	3815	KIT	Uncertain significance	-1	RCV002029183;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593699	55593699	C	T	55593699	-
NM_000222.3(KIT):c.1774+4A>G	3815	KIT	Uncertain significance	-1	RCV001365046;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593712	55593712	A	G	55593712	-
NM_000222.3(KIT):c.1774+6dup	3815	KIT	Likely benign	-1	RCV001435265;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593713	55593714	G	GT	55593713	-
NM_000222.3(KIT):c.1774+7A>G	3815	KIT	Likely benign	rs1310181400	RCV000633897;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593715	55593715	A	G	NC_000004.11:g.55593715A>G	ClinGen:CA439291298	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1774+11A>G	3815	KIT	Likely benign	-1	RCV002108355;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593719	55593719	A	G	55593719	-
NM_000222.3(KIT):c.1774+14A>C	3815	KIT	Likely benign	-1	RCV002185174;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593722	55593722	A	C	55593722	-
NM_000222.3(KIT):c.1774+14_1774+15del	3815	KIT	Likely benign	-1	RCV002187396;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593722	55593723	CAG	C	55593721	-
NM_000222.3(KIT):c.1774+14A>G	3815	KIT	Likely benign	-1	RCV002152578;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593722	55593722	A	G	55593722	-
NM_000222.3(KIT):c.1774+17G>A	3815	KIT	Likely benign	-1	RCV002135576;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593725	55593725	G	A	55593725	-
NM_000222.3(KIT):c.1774+19C>T	3815	KIT	Likely benign	-1	RCV002131748;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593727	55593727	C	T	55593727	-
NM_000222.3(KIT):c.1775-17_1775-15del	3815	KIT	Likely benign	-1	RCV002152641;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593968	55593970	CTTG	C	55593967	-
NM_000222.3(KIT):c.1775-17dup	3815	KIT	Likely benign	-1	RCV002093847;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593970	55593971	G	GT	55593970	-
NM_000222.3(KIT):c.1775-16G>A	3815	KIT	Likely benign	-1	RCV002091492;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593973	55593973	G	A	55593973	-
NM_000222.3(KIT):c.1775-8_1775-5del	3815	KIT	Likely benign	-1	RCV002113392;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593975	55593978	TCTTC	T	55593974	-
NM_000222.3(KIT):c.1775-12T>G	3815	KIT	Likely benign	-1	RCV002014341;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593977	55593977	T	G	55593977	-
NM_000222.3(KIT):c.1775-10C>A	3815	KIT	Uncertain significance	rs1577995739	RCV000800299;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593979	55593979	C	A	4:g.55593979C>A	-
NM_000222.3(KIT):c.1775-8dup	3815	KIT	Likely benign	rs1577995749	RCV000978080\|RCV001431071;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593979	55593980	C	CT	4:g.55593979_55593980insT	-
NM_000222.3(KIT):c.1775-10C>T	3815	KIT	Likely benign	-1	RCV001468106;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593979	55593979	C	T	55593979	-
NM_000222.3(KIT):c.1775-6C>T	3815	KIT	Likely benign	-1	RCV001466142;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593983	55593983	C	T	55593983	-
NM_000222.3(KIT):c.1775-6C>G	3815	KIT	Uncertain significance	-1	RCV001933922;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593983	55593983	C	G	55593983	-
NM_000222.3(KIT):c.1775-5T>C	3815	KIT	Likely benign	-1	RCV002159709;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593984	55593984	T	C	55593984	-
NM_000222.3(KIT):c.1775-4A>G	3815	KIT	Conflicting interpretations of pathogenicity	rs373072016	RCV000465856\|RCV001013098;	N	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	4	55593985	55593985	A	G	NC_000004.11:g.55593985A>G	ClinGen:CA2923578	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1775-3C>T	3815	KIT	Uncertain significance	-1	RCV002004040;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593986	55593986	C	T	55593986	-
NM_000222.3(KIT):c.1775-2A>G	3815	KIT	Likely pathogenic	rs1577995761	RCV000792285;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593987	55593987	A	G	4:g.55593987A>G	-
NM_000222.3(KIT):c.1775G>T (p.Gly592Val)	3815	KIT	Uncertain significance	-1	RCV001994035;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593989	55593989	G	T	55593989	-
NM_000222.3(KIT):c.1776G>A (p.Gly592=)	3815	KIT	Likely benign	-1	RCV002180440;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593990	55593990	G	A	55593990	-
NM_000222.3(KIT):c.1780A>C (p.Thr594Pro)	3815	KIT	Uncertain significance	-1	RCV001970981;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593994	55593994	A	C	55593994	-
NM_000222.3(KIT):c.1781C>T (p.Thr594Ile)	3815	KIT	Uncertain significance	rs375351432	RCV000475124\|RCV001013131\|RCV001764427;	N	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,MedGen:C0024899,Orph	4	55593995	55593995	C	T	NC_000004.11:g.55593995C>T	ClinGen:CA2923579	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1782C>T (p.Thr594=)	3815	KIT	Likely benign	-1	RCV001498470;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593996	55593996	C	T	55593996	-
NM_000222.3(KIT):c.1785G>A (p.Leu595=)	3815	KIT	Likely benign	-1	RCV001446290;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55593999	55593999	G	A	55593999	-
NM_000222.3(KIT):c.1789G>A (p.Ala597Thr)	3815	KIT	Uncertain significance	rs768214921	RCV000535899\|RCV001013154;	N	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	4	55594003	55594003	G	A	NC_000004.11:g.55594003G>A	ClinGen:CA2923581	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1791T>C (p.Ala597=)	3815	KIT	Likely benign	rs1186816361	RCV000934646\|RCV001460452;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594005	55594005	T	C	4:g.55594005T>C	-
NM_000222.3(KIT):c.1794A>T (p.Gly598=)	3815	KIT	Benign/Likely benign	rs72549292	RCV000203967\|RCV000376095\|RCV000286308\|RCV001567247;	N	Human 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:C00800	4	55594008	55594008	A	T	NC_000004.11:g.55594008A>T	ClinGen:CA348252	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1794A>G (p.Gly598=)	3815	KIT	Likely benign	-1	RCV001444501;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594008	55594008	A	G	55594008	-
NM_000222.3(KIT):c.1797T>C (p.Ala599=)	3815	KIT	Likely benign	-1	RCV002185468;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594011	55594011	T	C	55594011	-
NM_000222.3(KIT):c.1800C>T (p.Phe600=)	3815	KIT	Likely benign	rs138380197	RCV000633870;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594014	55594014	C	T	4:g.55594014C>T	ClinGen:CA2923582	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1803G>A (p.Gly601=)	3815	KIT	Likely benign	rs1060504661	RCV000458800;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594017	55594017	G	A	NC_000004.11:g.55594017G>A	ClinGen:CA16611508	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1810G>A (p.Val604Ile)	3815	KIT	Uncertain significance	-1	RCV001944576;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594024	55594024	G	A	55594024	-
NM_000222.3(KIT):c.1813G>A (p.Glu605Lys)	3815	KIT	Uncertain significance	rs1722339125	RCV001238077;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594027	55594027	G	A	4:g.55594027G>A	-
NM_000222.3(KIT):c.1814A>C (p.Glu605Ala)	3815	KIT	Uncertain significance	rs1553891888	RCV000543814;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594028	55594028	A	C	4:g.55594028A>C	ClinGen:CA356907990	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1816G>A (p.Ala606Thr)	3815	KIT	Uncertain significance	rs1577995854	RCV000810403;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594030	55594030	G	A	4:g.55594030G>A	-
NM_000222.3(KIT):c.1818A>C (p.Ala606=)	3815	KIT	Likely benign	-1	RCV002135310;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594032	55594032	A	C	55594032	-
NM_000222.3(KIT):c.1821T>C (p.Thr607=)	3815	KIT	Likely benign	rs1420595508	RCV000868046;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594035	55594035	T	C	4:g.55594035T>C	-
NM_000222.3(KIT):c.1824T>C (p.Ala608=)	3815	KIT	Likely benign	rs1406480519	RCV000633900;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594038	55594038	T	C	4:g.55594038T>C	ClinGen:CA439291350	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1830C>T (p.Gly610=)	3815	KIT	Likely benign	-1	RCV001500724;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594044	55594044	C	T	55594044	-
NM_000222.3(KIT):c.1831T>C (p.Leu611=)	3815	KIT	Likely benign	rs369412402	RCV000560754\|RCV001013320;	N	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	4	55594045	55594045	T	C	NC_000004.11:g.55594045T>C	ClinGen:CA2923583	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1835T>C (p.Ile612Thr)	3815	KIT	Uncertain significance	-1	RCV002023252;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594049	55594049	T	C	55594049	-
NM_000222.3(KIT):c.1837A>G (p.Lys613Glu)	3815	KIT	Uncertain significance	-1	RCV001873943;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594051	55594051	A	G	55594051	-
NM_000222.3(KIT):c.1847C>T (p.Ala616Val)	3815	KIT	Uncertain significance	rs891140054	RCV000473035;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594061	55594061	C	T	NC_000004.11:g.55594061C>T	ClinGen:CA16611669	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1847C>A (p.Ala616Glu)	3815	KIT	Uncertain significance	rs891140054	RCV001315928;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594061	55594061	C	A	55594061	-
NM_000222.3(KIT):c.1848G>A (p.Ala616=)	3815	KIT	Likely benign	rs148853099	RCV000233772\|RCV001013404;	N	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	4	55594062	55594062	G	A	NC_000004.11:g.55594062G>A	ClinGen:CA2923584	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1852A>G (p.Met618Val)	3815	KIT	Uncertain significance	-1	RCV001981396;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594066	55594066	A	G	55594066	-
NM_000222.3(KIT):c.1853T>C (p.Met618Thr)	3815	KIT	Uncertain significance	rs111466688	RCV001064470;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594067	55594067	T	C	4:g.55594067T>C	-
NM_000222.3(KIT):c.1854G>A (p.Met618Ile)	3815	KIT	Uncertain significance	rs199787524	RCV000536820\|RCV001013352;	N	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	4	55594068	55594068	G	A	NC_000004.11:g.55594068G>A	ClinGen:CA2923586	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1856C>T (p.Thr619Ile)	3815	KIT	Uncertain significance	rs1294929758	RCV001067216;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594070	55594070	C	T	4:g.55594070C>T	-
NM_000222.3(KIT):c.1860C>T (p.Val620=)	3815	KIT	Likely benign	rs200814065	RCV000228582;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594074	55594074	C	T	4:g.55594074C>T	ClinGen:CA2923587	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr)	3815	KIT	Likely pathogenic	rs1560418178	RCV000685166;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594075	55594075	G	A	4:g.55594075G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1863T>C (p.Ala621=)	3815	KIT	Likely benign	rs759613218	RCV000465645;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594077	55594077	T	C	NC_000004.11:g.55594077T>C	ClinGen:CA16611602	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1866A>G (p.Val622=)	3815	KIT	Likely benign	rs1287132024	RCV000633855\|RCV001448762;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594080	55594080	A	G	NC_000004.11:g.55594080A>G	ClinGen:CA439291396	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1869G>A (p.Lys623=)	3815	KIT	Likely benign	rs765239839	RCV000923088;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594083	55594083	G	A	4:g.55594083G>A	-
NM_000222.3(KIT):c.1873C>T (p.Leu625Phe)	3815	KIT	Uncertain significance	-1	RCV002004409;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594087	55594087	C	T	55594087	-
NM_000222.3(KIT):c.1875C>G (p.Leu625=)	3815	KIT	Likely benign	-1	RCV001445188;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594089	55594089	C	G	55594089	-
NM_000222.3(KIT):c.1875C>T (p.Leu625=)	3815	KIT	Likely benign	-1	RCV002147887;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594089	55594089	C	T	55594089	-
NM_000222.3(KIT):c.1876A>G (p.Lys626Glu)	3815	KIT	Uncertain significance	rs1722343399	RCV001312357;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594090	55594090	A	G	55594090	-
NM_000222.3(KIT):c.1879C>A (p.Pro627Thr)	3815	KIT	Uncertain significance	rs1032761406	RCV000474974;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594093	55594093	C	A	NC_000004.11:g.55594093C>A	ClinGen:CA16611671	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879C>T (p.Pro627Ser)	3815	KIT	Uncertain significance	rs1032761406	RCV000633832;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594093	55594093	C	T	NC_000004.11:g.55594093C>T	ClinGen:CA96876046	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+7T>C	3815	KIT	Likely benign	rs751507194	RCV000633930;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594100	55594100	T	C	NC_000004.11:g.55594100T>C	ClinGen:CA658796443	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+7T>A	3815	KIT	Likely benign	-1	RCV001411486;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594100	55594100	T	A	55594100	-
NM_000222.3(KIT):c.1879+8C>G	3815	KIT	Likely benign	rs1553891914	RCV000548741;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594101	55594101	C	G	NC_000004.11:g.55594101C>G	ClinGen:CA658655852	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+8C>T	3815	KIT	Likely benign	-1	RCV001412421;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594101	55594101	C	T	55594101	-
NM_000222.3(KIT):c.1879+10T>C	3815	KIT	Likely benign	rs1553891916	RCV000633851;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594103	55594103	T	C	NC_000004.11:g.55594103T>C	ClinGen:CA658796444	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1879+13A>G	3815	KIT	Likely benign	-1	RCV002127645;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594106	55594106	A	G	55594106	-
NM_000222.3(KIT):c.1879+16G>A	3815	KIT	Likely benign	-1	RCV002153019;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594109	55594109	G	A	55594109	-
NM_000222.3(KIT):c.1879+17T>C	3815	KIT	Likely benign	-1	RCV001891712;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594110	55594110	T	C	55594110	-
NM_000222.3(KIT):c.1879+18A>G	3815	KIT	Likely benign	-1	RCV002096411;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594111	55594111	A	G	55594111	-
NM_000222.3(KIT):c.1880-20A>C	3815	KIT	Likely benign	-1	RCV002123125;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594157	55594157	A	C	55594157	-
NM_000222.3(KIT):c.1880-15T>C	3815	KIT	Likely benign	-1	RCV002142961;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594162	55594162	T	C	55594162	-
NM_000222.3(KIT):c.1880-14G>C	3815	KIT	Likely benign	-1	RCV002117636;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594163	55594163	G	C	55594163	-
NM_000222.3(KIT):c.1880-8A>T	3815	KIT	Likely benign	rs1577996134	RCV000928247\|RCV001461793;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594169	55594169	A	T	4:g.55594169A>T	-
NM_000222.3(KIT):c.1880-3T>C	3815	KIT	Uncertain significance	rs1722349289	RCV001319018;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594174	55594174	T	C	55594174	-
NM_000222.3(KIT):c.1880C>T (p.Pro627Leu)	3815	KIT	Uncertain significance	rs1722349520	RCV001298129;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594177	55594177	C	T	55594177	-
NM_000222.3(KIT):c.1881G>A (p.Pro627=)	3815	KIT	Likely benign	rs971280269	RCV000633863;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594178	55594178	G	A	4:g.55594178G>A	ClinGen:CA96876094	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1883G>A (p.Ser628Asn)	3815	KIT	Uncertain significance	-1	RCV001995435;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594180	55594180	G	A	55594180	-
NM_000222.3(KIT):c.1889A>G (p.His630Arg)	3815	KIT	Uncertain significance	rs373554876	RCV000473539\|RCV001147351\|RCV001145420;	N	Human 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 On	4	55594186	55594186	A	G	NC_000004.11:g.55594186A>G	ClinGen:CA2923607	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1890T>C (p.His630=)	3815	KIT	Likely benign	-1	RCV001443691;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594187	55594187	T	C	55594187	-
NM_000222.3(KIT):c.1891T>C (p.Leu631=)	3815	KIT	Likely benign	-1	RCV002171467;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594188	55594188	T	C	55594188	-
NM_000222.3(KIT):c.1893G>A (p.Leu631=)	3815	KIT	Likely benign	rs767511834	RCV000633856;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594190	55594190	G	A	NC_000004.11:g.55594190G>A	ClinGen:CA2923609	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1895C>T (p.Thr632Ile)	3815	KIT	Uncertain significance	rs1553891944	RCV000556564;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594192	55594192	C	T	NC_000004.11:g.55594192C>T	ClinGen:CA356908438	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1898A>T (p.Glu633Val)	3815	KIT	Uncertain significance	rs1722351186	RCV001309544;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594195	55594195	A	T	55594195	-
NM_000222.3(KIT):c.1900C>T (p.Arg634Trp)	3815	KIT	Uncertain significance	rs144369407	RCV000459314;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594197	55594197	C	T	NC_000004.11:g.55594197C>T	ClinGen:CA2923610	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1900C>G (p.Arg634Gly)	3815	KIT	Uncertain significance	rs144369407	RCV001204194;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594197	55594197	C	G	4:g.55594197C>G	-
NM_000222.3(KIT):c.1901G>A (p.Arg634Gln)	3815	KIT	Uncertain significance	rs766264502	RCV000537164;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594198	55594198	G	A	NC_000004.11:g.55594198G>A	ClinGen:CA2923612	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1908C>T (p.Ala636=)	3815	KIT	Likely benign	rs753610580	RCV001013647\|RCV001442685;	N	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	4	55594205	55594205	C	T	4:g.55594205C>T	-
NM_000222.3(KIT):c.1911C>G (p.Leu637=)	3815	KIT	Likely benign	rs1375809347	RCV001013665\|RCV002068874;	N	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	4	55594208	55594208	C	G	4:g.55594208C>G	-
NM_000222.3(KIT):c.1912A>G (p.Met638Val)	3815	KIT	Uncertain significance	rs1177837541	RCV001058337;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594209	55594209	A	G	4:g.55594209A>G	-
NM_000222.3(KIT):c.1914G>A (p.Met638Ile)	3815	KIT	Uncertain significance	rs1722352667	RCV001340847;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594211	55594211	G	A	55594211	-
NM_000222.3(KIT):c.1916C>T (p.Ser639Phe)	3815	KIT	Uncertain significance	-1	RCV001864664;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594213	55594213	C	T	55594213	-
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)	3815	KIT	Pathogenic	rs121913512	RCV000014880\|RCV000418637\|RCV000419318\|RCV000428892\|RCV000429594\|RCV000436303;	N	MedGen: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 O	4	55594221	55594221	A	G	4:g.55594221A>G	ClinGen:CA123547,OMIM:164920.0024	C0278701 Adenocarcinoma of stomach;
NM_000222.3(KIT):c.1926A>G (p.Lys642=)	3815	KIT	Uncertain significance	-1	RCV001955434;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594223	55594223	A	G	55594223	-
NM_000222.3(KIT):c.1929C>T (p.Val643=)	3815	KIT	Likely benign	-1	RCV001393589;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594226	55594226	C	T	55594226	-
NM_000222.3(KIT):c.1932G>A (p.Leu644=)	3815	KIT	Likely benign	-1	RCV001399463;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594229	55594229	G	A	55594229	-
NM_000222.3(KIT):c.1934G>C (p.Ser645Thr)	3815	KIT	Uncertain significance	rs1060502566	RCV000463831;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594231	55594231	G	C	NC_000004.11:g.55594231G>C	ClinGen:CA16611604	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1937A>G (p.Tyr646Cys)	3815	KIT	Uncertain significance	-1	RCV002028169;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594234	55594234	A	G	55594234	-
NM_000222.3(KIT):c.1941T>C (p.Leu647=)	3815	KIT	Likely benign	-1	RCV001431990;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594238	55594238	T	C	55594238	-
NM_000222.3(KIT):c.1946A>G (p.Asn649Ser)	3815	KIT	Uncertain significance	rs1722355003	RCV001212307;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594243	55594243	A	G	4:g.55594243A>G	-
NM_000222.3(KIT):c.1947T>C (p.Asn649=)	3815	KIT	Likely benign	rs878853762	RCV000231425;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594244	55594244	T	C	NC_000004.11:g.55594244T>C	ClinGen:CA10582262	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1951A>T (p.Met651Leu)	3815	KIT	Uncertain significance	rs534209826	RCV000458431;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594248	55594248	A	T	NC_000004.11:g.55594248A>T	ClinGen:CA2923614	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1951A>G (p.Met651Val)	3815	KIT	Uncertain significance	rs534209826	RCV001306576;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594248	55594248	A	G	55594248	-
NM_000222.3(KIT):c.1952T>A (p.Met651Lys)	3815	KIT	Uncertain significance	rs1374100918	RCV001315004;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594249	55594249	T	A	55594249	-
NM_000222.3(KIT):c.1952T>C (p.Met651Thr)	3815	KIT	Uncertain significance	-1	RCV001876855;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594249	55594249	T	C	55594249	-
NM_000222.3(KIT):c.1954A>C (p.Asn652His)	3815	KIT	Uncertain significance	rs1473859499	RCV001013827\|RCV001297031;	N	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	4	55594251	55594251	A	C	4:g.55594251A>C	-
NM_000222.3(KIT):c.1954A>T (p.Asn652Tyr)	3815	KIT	Uncertain significance	-1	RCV002018166;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594251	55594251	A	T	55594251	-
NM_000222.3(KIT):c.1955A>G (p.Asn652Ser)	3815	KIT	Uncertain significance	-1	RCV001366762;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594252	55594252	A	G	55594252	-
NM_000222.3(KIT):c.1959T>C (p.Ile653=)	3815	KIT	Likely benign	rs752271176	RCV000869821\|RCV001013844;	N	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	4	55594256	55594256	T	C	4:g.55594256T>C	-
NM_000222.3(KIT):c.1975G>A (p.Ala659Thr)	3815	KIT	Uncertain significance	-1	RCV001875455;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594272	55594272	G	A	55594272	-
NM_000222.3(KIT):c.1983C>T (p.Thr661=)	3815	KIT	Likely benign	-1	RCV001480937;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594280	55594280	C	T	55594280	-
NM_000222.3(KIT):c.1984A>G (p.Ile662Val)	3815	KIT	Uncertain significance	rs1439996385	RCV000817749;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594281	55594281	A	G	4:g.55594281A>G	-
NM_000222.3(KIT):c.1984A>C (p.Ile662Leu)	3815	KIT	Uncertain significance	rs1439996385	RCV001070510;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594281	55594281	A	C	4:g.55594281A>C	-
NM_000222.3(KIT):c.1985T>C (p.Ile662Thr)	3815	KIT	Uncertain significance	-1	RCV001911241;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594282	55594282	T	C	55594282	-
NM_000222.3(KIT):c.1990+1del	3815	KIT	Pathogenic	-1	RCV001965129;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594287	55594287	AG	A	55594286	-
NM_000222.3(KIT):c.1990+4A>G	3815	KIT	Uncertain significance	rs1032874703	RCV000824018;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594291	55594291	A	G	4:g.55594291A>G	-
NM_000222.3(KIT):c.1990+6G>C	3815	KIT	Uncertain significance	-1	RCV001924640;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594293	55594293	G	C	55594293	-
NM_000222.3(KIT):c.1990+8del	3815	KIT	Likely benign	-1	RCV002137580;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594294	55594294	GC	G	55594293	-
NM_000222.3(KIT):c.1990+8C>T	3815	KIT	Likely benign	rs377493174	RCV000470240;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594295	55594295	C	T	NC_000004.11:g.55594295C>T	ClinGen:CA2923619	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1990+9G>A	3815	KIT	Likely benign	rs757680205	RCV000526202;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594296	55594296	G	A	4:g.55594296G>A	ClinGen:CA2923620	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1990+16A>G	3815	KIT	Likely benign	-1	RCV002112713;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55594303	55594303	A	G	55594303	-
NM_000222.3(KIT):c.1991-17_1991-13del	3815	KIT	Likely benign	-1	RCV002095404;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595481	55595485	CCTTTT	C	55595480	-
NM_000222.3(KIT):c.1991-16T>C	3815	KIT	Likely benign	-1	RCV002220020;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595485	55595485	T	C	55595485	-
NM_000222.3(KIT):c.1991-14T>C	3815	KIT	Likely benign	-1	RCV002077067;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595487	55595487	T	C	55595487	-
NM_000222.3(KIT):c.1991-11T>C	3815	KIT	Likely benign	-1	RCV002185732;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595490	55595490	T	C	55595490	-
NM_000222.3(KIT):c.1991-10G>C	3815	KIT	Likely benign	rs1577997814	RCV000983246;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595491	55595491	G	C	4:g.55595491G>C	-
NM_000222.3(KIT):c.1991-10G>A	3815	KIT	Likely benign	-1	RCV001480580;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595491	55595491	G	A	55595491	-
NM_000222.3(KIT):c.1991-9T>C	3815	KIT	Likely benign	-1	RCV001425006;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595492	55595492	T	C	55595492	-
NM_000222.3(KIT):c.1991-7C>T	3815	KIT	Likely benign	rs370661908	RCV000538646;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595494	55595494	C	T	4:g.55595494C>T	ClinGen:CA2923628	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1991-5T>G	3815	KIT	Uncertain significance	rs1560419281	RCV000688410;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595496	55595496	T	G	NC_000004.11:g.55595496T>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.1991-5T>A	3815	KIT	Uncertain significance	rs1560419281	RCV001064607;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595496	55595496	T	A	4:g.55595496T>A	-
NM_000222.3(KIT):c.1991-3T>C	3815	KIT	Uncertain significance	-1	RCV001877590;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595498	55595498	T	C	55595498	-
NM_000222.3(KIT):c.1998C>T (p.Thr666=)	3815	KIT	Likely benign	-1	RCV001393125;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595508	55595508	C	T	55595508	-
NM_000222.3(KIT):c.1999C>G (p.Leu667Val)	3815	KIT	Uncertain significance	-1	RCV001929860;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595509	55595509	C	G	55595509	-
NM_000222.3(KIT):c.2001G>C (p.Leu667=)	3815	KIT	Likely benign	rs766315579	RCV000470526;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595511	55595511	G	C	NC_000004.11:g.55595511G>C	ClinGen:CA2923632	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2001G>A (p.Leu667=)	3815	KIT	Likely benign	-1	RCV002192914;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595511	55595511	G	A	55595511	-
NM_000222.3(KIT):c.2004C>T (p.Val668=)	3815	KIT	Likely benign	-1	RCV001490710;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595514	55595514	C	T	55595514	-
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile)	3815	KIT	Likely pathogenic	rs121913516	RCV000421498;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595519	55595519	C	T	4:g.55595519C>T	ClinGen:CA16602525	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2010A>G (p.Thr670=)	3815	KIT	Likely benign	-1	RCV002215535;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595520	55595520	A	G	55595520	-
NM_000222.3(KIT):c.2016T>C (p.Tyr672=)	3815	KIT	Likely benign	rs1060504653	RCV000456538\|RCV001487015;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595526	55595526	T	C	NC_000004.11:g.55595526T>C	ClinGen:CA16611675	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2028T>G (p.Gly676=)	3815	KIT	Likely benign	-1	RCV002156460;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595538	55595538	T	G	55595538	-
NM_000222.3(KIT):c.2038A>G (p.Asn680Asp)	3815	KIT	Uncertain significance	-1	RCV002050383;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595548	55595548	A	G	55595548	-
NM_000222.3(KIT):c.2040T>G (p.Asn680Lys)	3815	KIT	Uncertain significance	rs1722438930	RCV001050340;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595550	55595550	T	G	4:g.55595550T>G	-
NM_000222.3(KIT):c.2041T>A (p.Phe681Ile)	3815	KIT	Uncertain significance	rs1560419344	RCV000701594;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595551	55595551	T	A	4:g.55595551T>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2043T>G (p.Phe681Leu)	3815	KIT	Uncertain significance	rs878853763	RCV000228275\|RCV001818566;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:CN169374	4	55595553	55595553	T	G	NC_000004.11:g.55595553T>G	ClinGen:CA10582263	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2046G>A (p.Leu682=)	3815	KIT	Likely benign	-1	RCV001501959;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595556	55595556	G	A	55595556	-
NM_000222.3(KIT):c.2046G>C (p.Leu682Phe)	3815	KIT	Uncertain significance	-1	RCV002025804;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595556	55595556	G	C	55595556	-
NM_000222.3(KIT):c.2050A>C (p.Arg684=)	3815	KIT	Likely benign	rs1553892209	RCV000633913;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595560	55595560	A	C	NC_000004.11:g.55595560A>C	ClinGen:CA439291587	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2052A>G (p.Arg684=)	3815	KIT	Likely benign	rs1553892213	RCV000551127;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595562	55595562	A	G	4:g.55595562A>G	ClinGen:CA439291588	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2052A>T (p.Arg684Ser)	3815	KIT	Uncertain significance	-1	RCV002037493;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595562	55595562	A	T	55595562	-
NM_000222.3(KIT):c.2056C>T (p.Arg686Cys)	3815	KIT	Uncertain significance	rs148771698	RCV000458048\|RCV001014252;	N	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	4	55595566	55595566	C	T	NC_000004.11:g.55595566C>T	ClinGen:CA2923637	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2057G>A (p.Arg686His)	3815	KIT	Uncertain significance	rs143772138	RCV000527116\|RCV000764544\|RCV001014260;	N	Human 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:C00800	4	55595567	55595567	G	A	NC_000004.11:g.55595567G>A	ClinGen:CA2923638	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2057G>T (p.Arg686Leu)	3815	KIT	Uncertain significance	rs143772138	RCV001320608;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595567	55595567	G	T	55595567	-
NM_000222.3(KIT):c.2061T>C (p.Asp687=)	3815	KIT	Likely benign	-1	RCV001474291;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595571	55595571	T	C	55595571	-
NM_000222.3(KIT):c.2062T>A (p.Ser688Thr)	3815	KIT	Uncertain significance	-1	RCV001359352;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595572	55595572	T	A	55595572	-
NM_000222.3(KIT):c.2064A>G (p.Ser688=)	3815	KIT	Likely benign	-1	RCV001484237;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595574	55595574	A	G	55595574	-
NM_000222.3(KIT):c.2067T>A (p.Phe689Leu)	3815	KIT	Uncertain significance	-1	RCV001360136;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595577	55595577	T	A	55595577	-
NM_000222.3(KIT):c.2068A>G (p.Ile690Val)	3815	KIT	Uncertain significance	rs924104591	RCV000538990\|RCV001014301;	N	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	4	55595578	55595578	A	G	NC_000004.11:g.55595578A>G	ClinGen:CA96877036	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2072G>C (p.Cys691Ser)	3815	KIT	Uncertain significance	rs35200131	RCV001227094;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595582	55595582	G	C	4:g.55595582G>C	-
NM_000222.3(KIT):c.2076A>G (p.Ser692=)	3815	KIT	Likely benign	rs1577997993	RCV001014338\|RCV001411873;	N	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	4	55595586	55595586	A	G	4:g.55595586A>G	-
NM_000222.3(KIT):c.2079G>C (p.Lys693Asn)	3815	KIT	Uncertain significance	-1	RCV001983127;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595589	55595589	G	C	55595589	-
NM_000222.3(KIT):c.2080C>T (p.Gln694Ter)	3815	KIT	Pathogenic	-1	RCV001990022;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595590	55595590	C	T	55595590	-
NM_000222.3(KIT):c.2083G>C (p.Glu695Gln)	3815	KIT	Uncertain significance	rs1277986442	RCV000705472;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595593	55595593	G	C	4:g.55595593G>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2086G>A (p.Asp696Asn)	3815	KIT	Uncertain significance	rs781588289	RCV000705844;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595596	55595596	G	A	NC_000004.11:g.55595596G>A	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2087A>T (p.Asp696Val)	3815	KIT	Uncertain significance	rs1722444395	RCV001228165\|RCV001726455;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:CN517202	4	55595597	55595597	A	T	4:g.55595597A>T	-
NM_000222.3(KIT):c.2089C>T (p.His697Tyr)	3815	KIT	Uncertain significance	rs763308199	RCV000435524\|RCV000477391\|RCV001014390;	N	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\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C	4	55595599	55595599	C	T	4:g.55595599C>T	ClinGen:CA2923642	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2089C>A (p.His697Asn)	3815	KIT	Uncertain significance	rs763308199	RCV001228894;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595599	55595599	C	A	4:g.55595599C>A	-
NM_000222.3(KIT):c.2090A>C (p.His697Pro)	3815	KIT	Uncertain significance	rs1414253704	RCV001066310;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595600	55595600	A	C	4:g.55595600A>C	-
NM_000222.3(KIT):c.2091T>C (p.His697=)	3815	KIT	Likely benign	rs1473835741	RCV000874033\|RCV001421097;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595601	55595601	T	C	4:g.55595601T>C	-
NM_000222.3(KIT):c.2092G>T (p.Ala698Ser)	3815	KIT	Uncertain significance	-1	RCV001915411;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595602	55595602	G	T	55595602	-
NM_000222.3(KIT):c.2093C>G (p.Ala698Gly)	3815	KIT	Uncertain significance	rs780329057	RCV000475396;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595603	55595603	C	G	NC_000004.11:g.55595603C>G	ClinGen:CA2923644	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2093C>A (p.Ala698Glu)	3815	KIT	Uncertain significance	-1	RCV001368270;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595603	55595603	C	A	55595603	-
NM_000222.3(KIT):c.2098G>A (p.Ala700Thr)	3815	KIT	Uncertain significance	rs1722446052	RCV001221004;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595608	55595608	G	A	4:g.55595608G>A	-
NM_000222.3(KIT):c.2099C>T (p.Ala700Val)	3815	KIT	Uncertain significance	rs1722446325	RCV001203128;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595609	55595609	C	T	4:g.55595609C>T	-
NM_000222.3(KIT):c.2100T>G (p.Ala700=)	3815	KIT	Likely benign	rs1553892249	RCV000633912;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595610	55595610	T	G	NC_000004.11:g.55595610T>G	ClinGen:CA439291622	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2100T>A (p.Ala700=)	3815	KIT	Likely benign	-1	RCV001468365;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595610	55595610	T	A	55595610	-
NM_000222.3(KIT):c.2103A>G (p.Ala701=)	3815	KIT	Likely benign	-1	RCV001436763;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595613	55595613	A	G	55595613	-
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)	3815	KIT	Uncertain significance	rs768847037	RCV000458317\|RCV000764545\|RCV001014447;	N	Human 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:00055	4	55595614	55595614	C	G	NC_000004.11:g.55595614C>G	ClinGen:CA2923646	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2104C>T (p.Leu702Phe)	3815	KIT	Uncertain significance	rs768847037	RCV001309259;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595614	55595614	C	T	55595614	-
NM_000222.3(KIT):c.2105T>C (p.Leu702Pro)	3815	KIT	Uncertain significance	rs541585774	RCV000470309;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595615	55595615	T	C	NC_000004.11:g.55595615T>C	ClinGen:CA2923647	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2107T>C (p.Tyr703His)	3815	KIT	Uncertain significance	rs746990067	RCV000555979;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595617	55595617	T	C	4:g.55595617T>C	ClinGen:CA2923648	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2108A>T (p.Tyr703Phe)	3815	KIT	Uncertain significance	rs771012963	RCV000822939;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595618	55595618	A	T	4:g.55595618A>T	-
NM_000222.3(KIT):c.2108A>G (p.Tyr703Cys)	3815	KIT	Uncertain significance	-1	RCV001370889;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595618	55595618	A	G	55595618	-
NM_000222.3(KIT):c.2111A>G (p.Lys704Arg)	3815	KIT	Uncertain significance	rs1553892256	RCV000532027;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595621	55595621	A	G	NC_000004.11:g.55595621A>G	ClinGen:CA356909794	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2113A>C (p.Asn705His)	3815	KIT	Uncertain significance	rs1722448939	RCV001348071;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595623	55595623	A	C	55595623	-
NM_000222.3(KIT):c.2114A>G (p.Asn705Ser)	3815	KIT	Uncertain significance	rs1722449103	RCV001343444;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595624	55595624	A	G	55595624	-
NM_000222.3(KIT):c.2116C>T (p.Leu706Phe)	3815	KIT	Uncertain significance	rs1577998119	RCV000814524;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595626	55595626	C	T	4:g.55595626C>T	-
NM_000222.3(KIT):c.2118T>G (p.Leu706=)	3815	KIT	Conflicting interpretations of pathogenicity	rs766840704	RCV000232109\|RCV001014321\|RCV001147352\|RCV001147353;	N	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,MedGen:C0024899,Orph	4	55595628	55595628	T	G	4:g.55595628T>G	ClinGen:CA2923650	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2119_2139dup (p.Leu707_Ser713dup)	3815	KIT	Uncertain significance	rs1722449916	RCV001050921;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595628	55595629	T	TCTGCATTCAAAGGAGTCTTCC	4:g.55595628_55595629insCTGCATTCAAAGGAGTCTTCC	-
NM_000222.3(KIT):c.2121G>T (p.Leu707=)	3815	KIT	Likely benign	rs1577998148	RCV000938847;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595631	55595631	G	T	4:g.55595631G>T	-
NM_000222.3(KIT):c.2122C>T (p.His708Tyr)	3815	KIT	Uncertain significance	rs146337870	RCV000792031;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595632	55595632	C	T	4:g.55595632C>T	-
NM_000222.3(KIT):c.2126C>T (p.Ser709Leu)	3815	KIT	Uncertain significance	rs1722451112	RCV001338353;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595636	55595636	C	T	55595636	-
NM_000222.3(KIT):c.2127A>G (p.Ser709=)	3815	KIT	Likely benign	rs1367360445	RCV000876166;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595637	55595637	A	G	4:g.55595637A>G	-
NM_000222.3(KIT):c.2131G>C (p.Glu711Gln)	3815	KIT	Uncertain significance	rs1060502544	RCV000465808;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595641	55595641	G	C	NC_000004.11:g.55595641G>C	ClinGen:CA16611605	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2131G>A (p.Glu711Lys)	3815	KIT	Uncertain significance	rs1060502544	RCV001055010;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595641	55595641	G	A	4:g.55595641G>A	-
NM_000222.3(KIT):c.2132A>C (p.Glu711Ala)	3815	KIT	Uncertain significance	rs374262491	RCV001302016;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595642	55595642	A	C	55595642	-
NM_000222.3(KIT):c.2133G>A (p.Glu711=)	3815	KIT	Likely benign	-1	RCV001469218;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595643	55595643	G	A	55595643	-
NM_000222.3(KIT):c.2133G>T (p.Glu711Asp)	3815	KIT	Uncertain significance	-1	RCV001886047;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595643	55595643	G	T	55595643	-
NM_000222.3(KIT):c.2134T>C (p.Ser712Pro)	3815	KIT	Uncertain significance	-1	RCV002048176;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595644	55595644	T	C	55595644	-
NM_000222.3(KIT):c.2138C>A (p.Ser713Tyr)	3815	KIT	Uncertain significance	rs775274159	RCV000807273;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595648	55595648	C	A	4:g.55595648C>A	-
NM_000222.3(KIT):c.2138C>T (p.Ser713Phe)	3815	KIT	Uncertain significance	rs775274159	RCV001218924;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595648	55595648	C	T	4:g.55595648C>T	-
NM_000222.3(KIT):c.2138C>G (p.Ser713Cys)	3815	KIT	Uncertain significance	-1	RCV001977644;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595648	55595648	C	G	55595648	-
NM_000222.3(KIT):c.2139C>T (p.Ser713=)	3815	KIT	Likely benign	-1	RCV001487282;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595649	55595649	C	T	55595649	-
NM_000222.3(KIT):c.2140T>C (p.Cys714Arg)	3815	KIT	Uncertain significance	rs1577998219	RCV000801750;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595650	55595650	T	C	4:g.55595650T>C	-
NM_000222.3(KIT):c.2141+3A>G	3815	KIT	Uncertain significance	-1	RCV001909029;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595654	55595654	A	G	55595654	-
NM_000222.3(KIT):c.2141+7C>T	3815	KIT	Likely benign	rs1360717801	RCV000539911;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595658	55595658	C	T	4:g.55595658C>T	ClinGen:CA551369115	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2141+9G>T	3815	KIT	Likely benign	-1	RCV001476201;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595660	55595660	G	T	55595660	-
NM_000222.3(KIT):c.2141+11T>G	3815	KIT	Likely benign	-1	RCV002161260;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595662	55595662	T	G	55595662	-
NM_000222.3(KIT):c.2141+13T>G	3815	KIT	Likely benign	-1	RCV002073690;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595664	55595664	T	G	55595664	-
NM_000222.3(KIT):c.2141+16A>G	3815	KIT	Likely benign	-1	RCV002166487;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595667	55595667	A	G	55595667	-
NM_000222.3(KIT):c.2141+19_2141+22del	3815	KIT	Likely benign	-1	RCV002102962;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595667	55595670	CATAA	C	55595666	-
NM_000222.3(KIT):c.2141+16A>T	3815	KIT	Likely benign	-1	RCV002129121;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595667	55595667	A	T	55595667	-
NM_000222.3(KIT):c.2141+17T>C	3815	KIT	Likely benign	-1	RCV002200426;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595668	55595668	T	C	55595668	-
NM_000222.3(KIT):c.2141+17del	3815	KIT	Likely benign	-1	RCV002219444;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595668	55595668	AT	A	55595667	-
NM_000222.3(KIT):c.2141+18A>C	3815	KIT	Likely benign	-1	RCV002075534;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55595669	55595669	A	C	55595669	-
NM_000222.3(KIT):c.2142-16G>A	3815	KIT	Likely benign	-1	RCV002218521;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597478	55597478	G	A	55597478	-
NM_000222.3(KIT):c.2142-12C>A	3815	KIT	Likely benign	-1	RCV002074667;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597482	55597482	C	A	55597482	-
NM_000222.3(KIT):c.2142-11A>G	3815	KIT	Likely benign	-1	RCV002152571;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597483	55597483	A	G	55597483	-
NC_000004.12:g.(?_54731318)_(54738557_?)dup	3815	KIT	Uncertain significance	-1	RCV001031573;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597484	55604723	na	na	-1	-
NM_000222.3(KIT):c.2142-9C>T	3815	KIT	Likely benign	rs1553892553	RCV000552975\|RCV001472792;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597485	55597485	C	T	4:g.55597485C>T	ClinGen:CA658655854	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2142-8T>C	3815	KIT	Likely benign	rs1578000374	RCV000940645\|RCV001467191;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597486	55597486	T	C	4:g.55597486T>C	-
NM_000222.3(KIT):c.2142-7C>T	3815	KIT	Likely benign	-1	RCV001439602;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597487	55597487	C	T	55597487	-
NM_000222.3(KIT):c.2142-5C>G	3815	KIT	Uncertain significance	rs781283523	RCV001060483;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597489	55597489	C	G	4:g.55597489C>G	-
NM_000222.3(KIT):c.2142-4C>A	3815	KIT	Conflicting interpretations of pathogenicity	rs1394807281	RCV000913758\|RCV001014594;	N	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	4	55597490	55597490	C	A	4:g.55597490C>A	-
NM_000222.3(KIT):c.2142-3C>G	3815	KIT	Uncertain significance	rs1722581397	RCV001058210;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597491	55597491	C	G	4:g.55597491C>G	-
NM_000222.3(KIT):c.2144G>A (p.Ser715Asn)	3815	KIT	Uncertain significance	rs56094246	RCV000797120;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597496	55597496	G	A	4:g.55597496G>A	-
NM_000222.3(KIT):c.2145C>T (p.Ser715=)	3815	KIT	Likely benign	rs192110951	RCV000475429;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597497	55597497	C	T	NC_000004.11:g.55597497C>T	ClinGen:CA2923670	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2146G>A (p.Asp716Asn)	3815	KIT	Uncertain significance	rs769701248	RCV000473358;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597498	55597498	G	A	NC_000004.11:g.55597498G>A	ClinGen:CA2923671	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2146G>T (p.Asp716Tyr)	3815	KIT	Uncertain significance	rs769701248	RCV000817215;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597498	55597498	G	T	4:g.55597498G>T	-
NM_000222.3(KIT):c.2147A>G (p.Asp716Gly)	3815	KIT	Uncertain significance	rs1722582575	RCV001303472;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597499	55597499	A	G	55597499	-
NM_000222.3(KIT):c.2151T>C (p.Ser717=)	3815	KIT	Likely benign	-1	RCV001394766;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597503	55597503	T	C	55597503	-
NM_000222.3(KIT):c.2152A>G (p.Thr718Ala)	3815	KIT	Likely benign	rs564307874	RCV000533515;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597504	55597504	A	G	NC_000004.11:g.55597504A>G	ClinGen:CA2923672	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2152_2153del (p.Ser717_Thr718insTer)	3815	KIT	Pathogenic	rs1560420761	RCV000704576;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597504	55597505	TAC	T	4:g.55597504_55597505del	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2155_2157del (p.Asn719del)	3815	KIT	Uncertain significance	-1	RCV001925939;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597506	55597508	CTAA	C	55597505	-
NM_000222.3(KIT):c.2154T>C (p.Thr718=)	3815	KIT	Likely benign	-1	RCV002082478;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597506	55597506	T	C	55597506	-
NM_000222.3(KIT):c.2155A>C (p.Asn719His)	3815	KIT	Uncertain significance	rs1560420768	RCV000697139;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597507	55597507	A	C	4:g.55597507A>C	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2155A>G (p.Asn719Asp)	3815	KIT	Uncertain significance	-1	RCV001888078;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597507	55597507	A	G	55597507	-
NM_000222.3(KIT):c.2157T>C (p.Asn719=)	3815	KIT	Likely benign	-1	RCV001465008;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597509	55597509	T	C	55597509	-
NM_000222.3(KIT):c.2160G>A (p.Glu720=)	3815	KIT	Likely benign	rs372359131	RCV000545993;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597512	55597512	G	A	NC_000004.11:g.55597512G>A	ClinGen:CA2923673	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2160G>T (p.Glu720Asp)	3815	KIT	Uncertain significance	-1	RCV001369408;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597512	55597512	G	T	55597512	-
NM_000222.3(KIT):c.2162A>G (p.Tyr721Cys)	3815	KIT	Uncertain significance	-1	RCV001999227;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597514	55597514	A	G	55597514	-
NM_000222.3(KIT):c.2163C>T (p.Tyr721=)	3815	KIT	Likely benign	-1	RCV001499287;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597515	55597515	C	T	55597515	-
NM_000222.3(KIT):c.2164A>G (p.Met722Val)	3815	KIT	Uncertain significance	rs1255211227	RCV001063522;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597516	55597516	A	G	4:g.55597516A>G	-
NM_000222.3(KIT):c.2166G>A (p.Met722Ile)	3815	KIT	Uncertain significance	rs1722584431	RCV001221343;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597518	55597518	G	A	4:g.55597518G>A	-
NM_000222.3(KIT):c.2167G>C (p.Asp723His)	3815	KIT	Uncertain significance	-1	RCV001982612;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597519	55597519	G	C	55597519	-
NM_000222.3(KIT):c.2167G>T (p.Asp723Tyr)	3815	KIT	Uncertain significance	-1	RCV001989144;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597519	55597519	G	T	55597519	-
NM_000222.3(KIT):c.2170A>G (p.Met724Val)	3815	KIT	Uncertain significance	rs1560420790	RCV000700230;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597522	55597522	A	G	NC_000004.11:g.55597522A>G	-	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2175A>C (p.Lys725Asn)	3815	KIT	Uncertain significance	rs1578000466	RCV000823374;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597527	55597527	A	C	4:g.55597527A>C	-
NM_000222.3(KIT):c.2179G>C (p.Gly727Arg)	3815	KIT	Uncertain significance	rs1722585213	RCV001348108;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597531	55597531	G	C	55597531	-
NM_000222.3(KIT):c.2180G>T (p.Gly727Val)	3815	KIT	Uncertain significance	rs1722585375	RCV001323515;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597532	55597532	G	T	55597532	-
NM_000222.3(KIT):c.2182G>A (p.Val728Ile)	3815	KIT	Uncertain significance	-1	RCV001362248;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597534	55597534	G	A	55597534	-
NM_000222.3(KIT):c.2185T>G (p.Ser729Ala)	3815	KIT	Uncertain significance	rs773953640	RCV001312353;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597537	55597537	T	G	55597537	-
NM_000222.3(KIT):c.2187T>G (p.Ser729=)	3815	KIT	Uncertain significance	-1	RCV002016133;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597539	55597539	T	G	55597539	-
NM_000222.3(KIT):c.2189A>T (p.Tyr730Phe)	3815	KIT	Uncertain significance	-1	RCV001362731;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597541	55597541	A	T	55597541	-
NM_000222.3(KIT):c.2190T>C (p.Tyr730=)	3815	KIT	Likely benign	rs761317949	RCV000944833\|RCV001487640;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597542	55597542	T	C	4:g.55597542T>C	-
NM_000222.3(KIT):c.2191G>C (p.Val731Leu)	3815	KIT	Uncertain significance	-1	RCV001366374;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597543	55597543	G	C	55597543	-
NM_000222.3(KIT):c.2194G>T (p.Val732Phe)	3815	KIT	Uncertain significance	rs1722586672	RCV001203833;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597546	55597546	G	T	4:g.55597546G>T	-
NM_000222.3(KIT):c.2196C>G (p.Val732=)	3815	KIT	Likely benign	rs1060504655	RCV000460105\|RCV001394397;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597548	55597548	C	G	NC_000004.11:g.55597548C>G	ClinGen:CA16611560	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2196C>T (p.Val732=)	3815	KIT	Likely benign	-1	RCV002212083;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597548	55597548	C	T	55597548	-
NM_000222.3(KIT):c.2198C>T (p.Pro733Leu)	3815	KIT	Uncertain significance	rs992027457	RCV000459555\|RCV001532022;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890\|MedGen:CN517202	4	55597550	55597550	C	T	NC_000004.11:g.55597550C>T	ClinGen:CA16611677	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2201C>G (p.Thr734Ser)	3815	KIT	Uncertain significance	-1	RCV001367151;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597553	55597553	C	G	55597553	-
NM_000222.3(KIT):c.2208C>T (p.Ala736=)	3815	KIT	Likely benign	rs375902940	RCV000225949\|RCV001014730;	N	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	4	55597560	55597560	C	T	NC_000004.11:g.55597560C>T	ClinGen:CA2923677	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2208C>A (p.Ala736=)	3815	KIT	Likely benign	rs375902940	RCV000558393\|RCV001482318;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597560	55597560	C	A	NC_000004.11:g.55597560C>A	ClinGen:CA439291700	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2209G>A (p.Asp737Asn)	3815	KIT	Uncertain significance	rs751005114	RCV000230062;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597561	55597561	G	A	4:g.55597561G>A	ClinGen:CA2923678,UniProtKB:P10721#VAR_042025	C0238198 606764 Gastrointestinal stroma tumor;
NM_000222.3(KIT):c.2211C>T (p.Asp737=)	3815	KIT	Likely benign	rs1578000523	RCV000945167;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597563	55597563	C	T	4:g.55597563C>T	-
NM_000222.3(KIT):c.2213A>G (p.Lys738Arg)	3815	KIT	Uncertain significance	rs1578000525	RCV000807780;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597565	55597565	A	G	4:g.55597565A>G	-
NM_000222.3(KIT):c.2215A>G (p.Arg739Gly)	3815	KIT	Uncertain significance	rs1722589058	RCV001224244;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597567	55597567	A	G	4:g.55597567A>G	-
NM_000222.3(KIT):c.2220A>G (p.Arg740=)	3815	KIT	Uncertain significance	rs1722589766	RCV001047163;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597572	55597572	A	G	4:g.55597572A>G	-
NM_000222.3(KIT):c.2224G>A (p.Val742Met)	3815	KIT	Uncertain significance	rs1303414810	RCV000814941;	N	Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764, Orphanet:44890	4	55597576	55597576	G	A	4:g.55597576G>A