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: Diseases (C)
Parent Node: Leukemia, Myelomonocytic, Juvenile (D054429)
Parent Node: Noonan like syndrome (C537846)
..Starting node ..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Child Nodes:
Sister Nodes:
..NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8984

Name:

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA

Definition:

Alternative IDs:

ParentIDs:

MESH:C537846|MESH:D054429

TreeNumbers:

C04.557.337.539.525/613563 |C05.500.368/C537846/613563 |C05.660.207.690/C537846/613563 |C07.320.391/C537846/613563 |C07.465.714.258.557/C537846/613563 |C14.240.400.787/C537846/613563 |C14.280.400.787/C537846/613563 |C15.378.190.615.520/613563 |C16.131.240.400.78

Synonyms:

CBL MUTATION-ASSOCIATED SYNDROME |CBL SYNDROME |NSLL

Slim Mappings:

Reference:

MedGen: 613563
MeSH: 613563
OMIM: 613563;
MSeqDR :
Genes: CBL;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001650	Aortic valve stenosis
3	HP:0001647	Bicuspid aortic valve
4	HP:0000957	Cafe-au-lait spot
5	HP:0010310	Chylothorax	HP:0040283
6	HP:0000028	Cryptorchidism
7	HP:0002967	Cubitus valgus
8	HP:0002002	Deep philtrum
9	HP:0000750	Delayed speech and language development NAMDC: Delayed language
10	HP:0005280	Depressed nasal bridge
11	HP:0000494	Downslanted palpebral fissures
12	HP:0000286	Epicanthus
13	HP:0002213	Fine hair
14	HP:0002007	Frontal bossing
15	HP:0001290	Generalized hypotonia
16	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
17	HP:0001263	Global developmental delay NAMDC: Mental retardation
18	HP:0000316	Hypertelorism
19	HP:0001382	Joint hypermobility
20	HP:0001388	Joint laxity
21	HP:0012209	Juvenile myelomonocytic leukemia
22	HP:0000343	Long philtrum
23	HP:0000369	Low-set ears
24	HP:0001004	Lymphedema	HP:0040283
25	HP:0000400	Macrotia
26	HP:0001653	Mitral regurgitation
27	HP:0000767	Pectus excavatum
28	HP:0003812	Phenotypic variability
29	HP:0001561	Polyhydramnios	HP:0040283
30	HP:0000358	Posteriorly rotated ears
31	HP:0000508	Ptosis NAMDC: Ptosis
32	HP:0000470	Short neck
33	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)	HP:0040283
34	HP:0008070	Sparse hair
35	HP:0012471	Thick vermilion border
36	HP:0000325	Triangular face
37	HP:0000465	Webbed neck
38	HP:0006610	Wide intermamillary distance

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_005188.3(CBL):c.-125C>T	867	CBL	Benign	7108857	RCV000272196\|RCV001642937;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119077003	119077003	NC_000011.9:g.119077003C>T	ClinGen:CA10633632	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.-125_-116delinsT	867	CBL	Uncertain significance	886047763	RCV000365475\|RCV002487347;	N	MedGen:C1834120\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077003	119077012	NC_000011.9:g.119077003_119077012delinsT	ClinGen:CA10637818	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.3(CBL):c.-124G>T	867	CBL	Uncertain significance	886047764	RCV000307393;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077004	119077004	NC_000011.9:g.119077004G>T	ClinGen:CA10637364	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.3(CBL):c.-122C>T	867	CBL	Uncertain significance	886047765	RCV000364363\|RCV002487348;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077006	119077006	NC_000011.9:g.119077006C>T	ClinGen:CA10629955	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.3(CBL):c.-113C>T	867	CBL	Uncertain significance	886047766	RCV000276731;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077015	119077015	NC_000011.9:g.119077015C>T	ClinGen:CA10637819	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.3(CBL):c.-106G>A	867	CBL	Benign	569014495	RCV000334215;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077022	119077022	NC_000011.9:g.119077022G>A	ClinGen:CA10633637	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.3(CBL):c.-96G>A	867	CBL	Benign/Likely benign	548262208	RCV000367719\|RCV001561043;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119077032	119077032	NC_000011.9:g.119077032G>A	ClinGen:CA10637373	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.3(CBL):c.-83C>T	867	CBL	Uncertain significance	1592364458	RCV001105949;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077045	119077045	11:g.119077045C>T	-
NM_005188.4(CBL):c.-79C>T	867	CBL	Uncertain significance	886047767	RCV000275392;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077049	119077049	NC_000011.9:g.119077049C>T	ClinGen:CA10629964	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.-41C>T	867	CBL	Uncertain significance	751528430	RCV000318908;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077087	119077087	NC_000011.9:g.119077087C>T	ClinGen:CA6318201	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.41G>A (p.Gly14Asp)	867	CBL	Uncertain significance	868791422	RCV000375826;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077168	119077168	NC_000011.9:g.119077168G>A	ClinGen:CA10629967	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.93C>A (p.Asp31Glu)	867	CBL	Uncertain significance	376679438	RCV000578005\|RCV001770529\|RCV001860001\|RCV002497221;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN517202\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,Me	11	119077220	119077220	NC_000011.9:g.119077220C>A	ClinGen:CA6318224	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	867	CBL	Benign/Likely benign	373212940	RCV000038350\|RCV000278774\|RCV000514229\|RCV001080766\|RCV001813226\|RCV002408491\|RCV002490443;	N	MedGen:CN169374\|MedGen:C1834120\|MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontolo	11	119077232	119077233	11:g.119077232_119077233insCAC	ClinGen:CA135700	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.107ACC[6] (p.His42del)	867	CBL	Benign/Likely benign	373212940	RCV000157851\|RCV001579695\|RCV002498786;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119077233	119077235	NC_000011.9:g.119077234ACC[6]	ClinGen:CA295965	CN166718 Rasopathy;
NM_005188.4(CBL):c.195+6902A>G	867	CBL	Uncertain significance	-1	RCV003448571;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119084224	119084224		-
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)	867	CBL	Uncertain significance	730880429	RCV000157854\|RCV000549374\|RCV002484966;	N	MedGen:CN517202\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119103164	119103164	NC_000011.9:g.119103164C>T	ClinGen:CA295974	CN169374 not specified;
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)	867	CBL	Uncertain significance	147438359	RCV001317530\|RCV002224059\|RCV002476480\|RCV003166829;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN517202\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834\|MedGen:CN230736	11	119103248	119103248	119103248	-
NM_005188.4(CBL):c.296T>C (p.Leu99Ser)	867	CBL	Uncertain significance	1949511665	RCV001105950;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119103258	119103258	11:g.119103258T>C	-
NM_005188.4(CBL):c.306T>G (p.Tyr102Ter)	867	CBL	Pathogenic	397507489	RCV000033348\|RCV000984977;	N	MedGen:CN517202\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119103268	119103268	NC_000011.9:g.119103268T>G	ClinGen:CA282012	CN517202 not provided;
NM_005188.4(CBL):c.367A>T (p.Met123Leu)	867	CBL	Uncertain significance	1949512275	RCV001105951;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119103329	119103329	11:g.119103329A>T	-
NM_005188.4(CBL):c.405G>C (p.Glu135Asp)	867	CBL	Uncertain significance	1057519030	RCV000415508;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119103367	119103367	NC_000011.9:g.119103367G>C	ClinGen:CA16043920	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.444-6862G>A	867	CBL	Uncertain significance	2135290907	RCV001542334;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119135583	119135583	119135583	-
NM_005188.4(CBL):c.461T>C (p.Leu154Pro)	867	CBL	Uncertain significance	1949850753	RCV001198819;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119142462	119142462	11:g.119142462T>C	-
NM_005188.4(CBL):c.508C>T (p.Pro170Ser)	867	CBL	Uncertain significance	1949851157	RCV001197721;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119142509	119142509	11:g.119142509C>T	-
NM_005188.4(CBL):c.509C>T (p.Pro170Leu)	867	CBL	Uncertain significance	-1	RCV003315138;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119142510	119142510		-
NM_005188.4(CBL):c.513T>C (p.Ser171=)	867	CBL	Benign	2227987	RCV000038364\|RCV000227508\|RCV000317534\|RCV001811272\|RCV001813349\|RCV002345298\|RCV003315564;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119142514	119142514	11:g.119142514T>C	ClinGen:CA135740	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)	867	CBL	Uncertain significance	756736832	RCV001964705\|RCV002491957;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119142573	119142573	119142573	-
NM_005188.4(CBL):c.625C>G (p.Leu209Val)	867	CBL	Uncertain significance	767162260	RCV000379150\|RCV000476171\|RCV001813453;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733	11	119144612	119144612	NC_000011.9:g.119144612C>G	ClinGen:CA6318321	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.664A>C (p.Met222Leu)	867	CBL	Uncertain significance	773611782	RCV001215881\|RCV002298905\|RCV003333137\|RCV003333136;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119144651	119144651	11:g.119144651A>C	-
NM_005188.4(CBL):c.680C>G (p.Thr227Ser)	867	CBL	Uncertain significance	1949868148	RCV001199018;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119144667	119144667	11:g.119144667C>G	-
NM_005188.4(CBL):c.710C>T (p.Ser237Leu)	867	CBL	Uncertain significance	1949868655	RCV001327985;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119144697	119144697	119144697	-
NM_005188.4(CBL):c.805A>G (p.Met269Val)	867	CBL	Uncertain significance	372452974	RCV000853162\|RCV001869302\|RCV002222191;	N	Human Phenotype Ontology:HP:0011664,MedGen:C4021133\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119145599	119145599	11:g.119145599A>G	-
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)	867	CBL	Uncertain significance	730880432	RCV000819186\|RCV002478473;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119145632	119145632	11:g.119145632C>T	-
NM_005188.4(CBL):c.839G>A (p.Arg280Gln)	867	CBL	Conflicting interpretations of pathogenicity	145155035	RCV000372964\|RCV001108180\|RCV001855054;	N	MedGen:CN517202\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119145633	119145633	NC_000011.9:g.119145633G>A	ClinGen:CA6318350	CN517202 not provided;
NM_005188.4(CBL):c.852C>T (p.Phe284=)	867	CBL	Conflicting interpretations of pathogenicity	745855639	RCV000286859\|RCV002446554;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN230736	11	119145646	119145646	NC_000011.9:g.119145646C>T	ClinGen:CA6318352	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.869+4A>G	867	CBL	Benign	77284821	RCV000038366\|RCV000049224\|RCV000224916\|RCV000339761\|RCV001813350\|RCV002371836\|RCV003315565;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:C3661900\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119145667	119145667	11:g.119145667A>G	ClinGen:CA135746	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.869+15G>A	867	CBL	Conflicting interpretations of pathogenicity	761328610	RCV000610569\|RCV001108181\|RCV001700167\|RCV002064161;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN517202\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119145678	119145678	11:g.119145678G>A	ClinGen:CA6318357	CN169374 not specified;
NM_005188.4(CBL):c.869+19A>G	867	CBL	Benign	181589369	RCV000049225\|RCV000250922\|RCV002504948\|RCV003315578;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontolo	11	119145682	119145682	11:g.119145682A>G	ClinGen:CA284660	CN169374 not specified;
NM_005188.4(CBL):c.870-48G>C	867	CBL	Benign	2511854	RCV001554835\|RCV001682720;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119146659	119146659	119146659	-
NM_005188.4(CBL):c.1007+2T>A	867	CBL	Likely pathogenic	2135301614	RCV002274444;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119146846	119146846	119146846	-
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)	867	CBL	Uncertain significance	759585425	RCV001887440\|RCV002506982;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119148487	119148487	119148487	-
NM_005188.4(CBL):c.1094A>G (p.Gln365Arg)	867	CBL	Uncertain significance	756742202	RCV000393886\|RCV001850604;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119148553	119148553	NC_000011.9:g.119148553A>G	ClinGen:CA6318418	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1095+19G>T	867	CBL	Benign	2510152	RCV000049226\|RCV000246549\|RCV000509552\|RCV000610899\|RCV003315579;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119148573	119148573	11:g.119148573G>T	ClinGen:CA284661	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1096-4_1096-1del	867	CBL	Pathogenic/Likely pathogenic	397517077	RCV000038347\|RCV000157871\|RCV000844689;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950, Orphanet:648	11	119148872	119148875	NC_000011.9:g.119148872_119148875del	ClinGen:CA135697	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1096-2A>T	867	CBL	Pathogenic	1592400784	RCV000850538;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148874	119148874	11:g.119148874A>T	-
NM_005188.4(CBL):c.1096-1G>C	867	CBL	Pathogenic/Likely pathogenic	397517076	RCV000038346\|RCV000624342\|RCV001270818\|RCV001789707\|RCV001852803\|RCV002482996;	N	MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950, Orphanet:648\|MeSH:D030342,MedGen:C0950123\|MedGen:C4016301\|MedGen:CN517202\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972;	11	119148875	119148875	11:g.119148875G>C	ClinGen:CA135696	C0950123 Inborn genetic diseases;
NM_005188.4(CBL):c.1096-1G>T	867	CBL	Pathogenic	397517076	RCV000157858\|RCV000217231\|RCV000702743\|RCV001249230;	N	MedGen:C3661900\|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950, Orphanet:648\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; MedGen:CN296118,OMIM:600651	11	119148875	119148875	11:g.119148875G>T	ClinGen:CA295986	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1099_1101del (p.Gln367del)	867	CBL	Uncertain significance	1555230070	RCV000627092;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148877	119148879	11:g.119148877_119148879del	ClinGen:CA658797814	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	867	CBL	Pathogenic/Likely pathogenic	267606704	RCV000014818\|RCV000033352\|RCV000702464\|RCV001266923\|RCV001353389\|RCV001813204;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; MedGen:CN296118,OMIM:600651\|MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|	11	119148880	119148880	11:g.119148880A>C	ClinGen:CA123484,UniProtKB:P22681#VAR_064332,OMIM:165360.0001	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)	867	CBL	Pathogenic/Likely pathogenic	267606706	RCV000506397\|RCV000856726\|RCV001814073\|RCV002277316;	N	MedGen:CN169374\|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950, Orphanet:648\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	11	119148891	119148891	NC_000011.9:g.119148891T>A	ClinGen:CA296015	CN169374 not specified;
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)	867	CBL	Conflicting interpretations of pathogenicity	-1	RCV003037435\|RCV003229929\|RCV003314050;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN517202\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148891	119148891	NC_000011.9:g.119148891T>G	-
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	867	CBL	Pathogenic/Likely pathogenic	387906666	RCV000660642\|RCV001042520;	N	Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119148892	119148892	NC_000011.9:g.119148892A>C	-	C0349639 607785 Juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1126T>C (p.Ser376Pro)	867	CBL	Uncertain significance	-1	RCV003444435;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148906	119148906		-
NM_005188.4(CBL):c.1135C>A (p.Gln379Lys)	867	CBL	Uncertain significance	2135303660	RCV002272849;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148915	119148915	119148915	-
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro)	867	CBL	Conflicting interpretations of pathogenicity	1377506801	RCV000525475\|RCV001027866;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148919	119148919	NC_000011.9:g.119148919T>C	ClinGen:CA382912479	CN166718 Rasopathy;
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu)	867	CBL	Conflicting interpretations of pathogenicity	267606705	RCV000014819\|RCV001268437\|RCV001851859;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; MedGen:CN296118,OMIM:600651\|MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119148924	119148924	NC_000011.9:g.119148924A>G	ClinGen:CA123486,UniProtKB:P22681#VAR_064333,OMIM:165360.0002	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)	867	CBL	Uncertain significance	2135303762	RCV001758221\|RCV002488529\|RCV002543950;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119148943	119148943	119148943	-
NM_005188.4(CBL):c.1165A>G (p.Lys389Glu)	867	CBL	Conflicting interpretations of pathogenicity	1060500676	RCV000457434\|RCV001775119;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148945	119148945	NC_000011.9:g.119148945A>G	ClinGen:CA16613479	CN166718 Rasopathy;
NM_005188.4(CBL):c.1168G>T (p.Asp390Tyr)	867	CBL	Pathogenic	267606707	RCV000014820;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; MedGen:CN296118,OMIM:600651	11	119148948	119148948	NC_000011.9:g.119148948G>T	ClinGen:CA123488,UniProtKB:P22681#VAR_064334,OMIM:165360.0003	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1169A>T (p.Asp390Val)	867	CBL	Conflicting interpretations of pathogenicity	763058208	RCV000680806\|RCV001027992\|RCV001868303\|RCV002286418;	N	MedGen:CN517202\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0001433,MedGen:C0019214	11	119148949	119148949	11:g.119148949A>T	-	CN517202 not provided;
NM_005188.4(CBL):c.1193A>C (p.His398Pro)	867	CBL	Uncertain significance	1303812580	RCV001108182;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148973	119148973	11:g.119148973A>C	-
NM_005188.4(CBL):c.1193A>G (p.His398Arg)	867	CBL	Conflicting interpretations of pathogenicity	1303812580	RCV002040013\|RCV003155433\|RCV003388617\|RCV002508323;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119148973	119148973	119148973	-
NM_005188.4(CBL):c.1201T>C (p.Cys401Arg)	867	CBL	Conflicting interpretations of pathogenicity	397507492	RCV000033354\|RCV001041352\|RCV002054537;	N	MedGen:CN517202\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119148981	119148981	NC_000011.9:g.119148981T>C	ClinGen:CA282024	CN517202 not provided;
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)	867	CBL	Uncertain significance	1357686410	RCV000803552\|RCV003147554\|RCV003147553;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119148982	119148982	11:g.119148982G>T	-
NM_005188.4(CBL):c.1227+4C>T	867	CBL	Benign/Likely benign	201747825	RCV000038348\|RCV000049227\|RCV001000140\|RCV001705685\|RCV001813344\|RCV002490522\|RCV003315559;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:001190	11	119149011	119149011	11:g.119149011C>T	ClinGen:CA135698	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1227+5G>A	867	CBL	Uncertain significance	756550704	RCV001205128\|RCV001812249\|RCV002480670;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119149012	119149012	11:g.119149012G>A	-
NM_005188.4(CBL):c.1227+10T>C	867	CBL	Uncertain significance	886047768	RCV000347851;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119149017	119149017	NC_000011.9:g.119149017T>C	ClinGen:CA10637375	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1228-1G>A	867	CBL	Likely pathogenic	587777540	RCV000128634\|RCV003445557;	N	MedGen:C3661900\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119149219	119149219	NC_000011.9:g.119149219G>A	ClinGen:CA232603,OMIM:165360.0010	CN517202 not provided;
NM_005188.4(CBL):c.1237G>C (p.Gly413Arg)	867	CBL	Conflicting interpretations of pathogenicity	371679886	RCV000376659\|RCV002288955;	N	MedGen:CN517202\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119149229	119149229	NC_000011.9:g.119149229G>C	ClinGen:CA10603143	CN517202 not provided;
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)	867	CBL	Uncertain significance	756530482	RCV001807536\|RCV002482338;	N	Human Phenotype Ontology:HP:0001297,Human Phenotype Ontology:HP:0002452,MeSH:D020521,MedGen:C0038454\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orpha	11	119149235	119149235	119149235	-
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser)	867	CBL	Likely pathogenic	757456261	RCV001252955\|RCV003222276;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119149239	119149239	11:g.119149239G>C	-
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	867	CBL	Pathogenic/Likely pathogenic	267606708	RCV000014821\|RCV000414703\|RCV000816470\|RCV001257538\|RCV001705593\|RCV003447475;	N	MedGen:CN296118,OMIM:600651; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412, Orphanet	11	119149251	119149251	11:g.119149251G>A	UniProtKB:P22681#VAR_064335,OMIM:165360.0004,ClinGen:CA123490	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)	867	CBL	Uncertain significance	762677807	RCV001933135\|RCV002479402;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119149274	119149274	119149274	-
NM_005188.4(CBL):c.1287C>T (p.Ile429=)	867	CBL	Benign/Likely benign	148368481	RCV000124137\|RCV000466105\|RCV000988760\|RCV001813383\|RCV002381436\|RCV003422009;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|MedGen:C3661900	11	119149279	119149279	11:g.119149279C>T	ClinGen:CA289964	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)	867	CBL	Uncertain significance	140627020	RCV001819621\|RCV001869704\|RCV002291302\|RCV002482362;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119149290	119149290	119149290	-
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)	867	CBL	Uncertain significance	200508558	RCV002491111\|RCV000532713;	N	Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119149316	119149316	NC_000011.9:g.119149316C>A	ClinGen:CA6318498	CN166718 Rasopathy;
NM_005188.4(CBL):c.1353C>T (p.Pro451=)	867	CBL	Likely benign	201616881	RCV001102983\|RCV002497510;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119149345	119149345	11:g.119149345C>T	-
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del)	867	CBL	Uncertain significance	397507494	RCV000691279\|RCV001199321;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119149356	119149358	11:g.119149356_119149358del	-	CN166718 Rasopathy;
NM_005188.4(CBL):c.1399C>G (p.Leu467Val)	867	CBL	Uncertain significance	771673435	RCV001102984\|RCV002555004;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119149391	119149391	11:g.119149391C>G	-
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)	867	CBL	Conflicting interpretations of pathogenicity	764599897	RCV000542936\|RCV001532911\|RCV002483510;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119149415	119149415	NC_000011.9:g.119149415G>A	ClinGen:CA6318512	CN166718 Rasopathy;
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)	867	CBL	Conflicting interpretations of pathogenicity	369547447	RCV001892342\|RCV002503470;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119155702	119155702	119155702	-
NM_005188.4(CBL):c.1459A>G (p.Met487Val)	867	CBL	Benign/Likely benign	17848896	RCV000033360\|RCV000553397\|RCV001102985\|RCV001193411\|RCV001813227;	N	MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN169374\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733	11	119155706	119155706	NC_000011.9:g.119155706A>G	ClinGen:CA282028	CN169374 not specified;
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)	867	CBL	Uncertain significance	377502790	RCV000106326\|RCV000763710\|RCV001813377\|RCV001854518;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0020297,MedGen	11	119155710	119155710	NC_000011.9:g.119155710C>T	ClinGen:CA150792	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)	867	CBL	Conflicting interpretations of pathogenicity	730880434	RCV000157864\|RCV000622732\|RCV000707567\|RCV001102986\|RCV001818346;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN169374	11	119155724	119155724	11:g.119155724C>T	ClinGen:CA295996	C0950123 Inborn genetic diseases;
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)	867	CBL	Uncertain significance	373989524	RCV000423118\|RCV000680314\|RCV001865325\|RCV002481302;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119155731	119155731	11:g.119155731C>T	ClinGen:CA6318539	CN517202 not provided;
NM_005188.4(CBL):c.1485G>A (p.Pro495=)	867	CBL	Benign	2229072	RCV000038352\|RCV000312522\|RCV000469343\|RCV001811271\|RCV001813345\|RCV002390157\|RCV003315560;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:C3661900\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119155732	119155732	11:g.119155732G>A	ClinGen:CA135706	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1497A>G (p.Arg499=)	867	CBL	Uncertain significance	1949969920	RCV001104889;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119155744	119155744	11:g.119155744A>G	-
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)	867	CBL	Uncertain significance	533554769	RCV000227838\|RCV000592226\|RCV002500788;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119155758	119155758	NC_000011.9:g.119155758C>T	ClinGen:CA6318541	CN169374 not specified;
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)	867	CBL	Conflicting interpretations of pathogenicity	538054260	RCV000355691\|RCV000654950\|RCV001820887\|RCV003422231;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MedGen:C3661900	11	119155775	119155775	NC_000011.9:g.119155775C>G	ClinGen:CA6318545	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1552A>G (p.Thr518Ala)	867	CBL	Conflicting interpretations of pathogenicity	377734587	RCV000654919\|RCV002254706;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119155799	119155799	NC_000011.9:g.119155799A>G	ClinGen:CA6318549	CN166718 Rasopathy;
NM_005188.4(CBL):c.1564-13C>T	867	CBL	Benign	117902985	RCV000124139\|RCV000262813\|RCV002055448;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119155886	119155886	NC_000011.9:g.119155886C>T	ClinGen:CA289967	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)	867	CBL	Uncertain significance	764340189	RCV001884425\|RCV002503497\|RCV003416541;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|	11	119155953	119155953	119155953	-
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)	867	CBL	Uncertain significance	980503623	RCV001223139\|RCV002491702;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119155954	119155954	11:g.119155954G>A	-
NM_005188.4(CBL):c.1629A>G (p.Pro543=)	867	CBL	Benign/Likely benign	558577411	RCV000315622\|RCV000473383\|RCV001812788\|RCV003316468;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119155964	119155964	NC_000011.9:g.119155964A>G	ClinGen:CA6318576	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1641T>C (p.Pro547=)	867	CBL	Benign/Likely benign	61755280	RCV000038353\|RCV000124140\|RCV000354617\|RCV001727536\|RCV001813346\|RCV002399378\|RCV003315561;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119155976	119155976	11:g.119155976T>C	ClinGen:CA135709	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)	867	CBL	Benign/Likely benign	369030902	RCV000156176\|RCV000466595\|RCV001104890\|RCV001813404\|RCV002390364\|RCV003422048;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|MedGen:C3661900	11	119155982	119155982	11:g.119155982C>A	ClinGen:CA184322	CN169374 not specified;
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)	867	CBL	Conflicting interpretations of pathogenicity	143034856	RCV000684950\|RCV002499213;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156011	119156011	NC_000011.9:g.119156011G>A	-	CN166718 Rasopathy;
NM_005188.4(CBL):c.1681C>T (p.Gln561Ter)	867	CBL	Uncertain significance	1246882963	RCV001331369;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156016	119156016	119156016	-
NM_005188.4(CBL):c.1692C>T (p.Pro564=)	867	CBL	Uncertain significance	1300224054	RCV001104891;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156027	119156027	11:g.119156027C>T	-
NM_005188.4(CBL):c.1711G>A (p.Asp571Asn)	867	CBL	Uncertain significance	483352825	RCV000106327\|RCV001854519;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119156046	119156046	NC_000011.9:g.119156046G>A	ClinGen:CA150795	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly)	867	CBL	Conflicting interpretations of pathogenicity	374515645	RCV000033361\|RCV001818206\|RCV001852672\|RCV003325178;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156058	119156058	NC_000011.9:g.119156058A>G	ClinGen:CA282031	CN517202 not provided;
NM_005188.4(CBL):c.1744C>A (p.Pro582Thr)	867	CBL	Uncertain significance	2135310666	RCV002227576\|RCV002040272;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119156079	119156079	119156079	-
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)	867	CBL	Conflicting interpretations of pathogenicity	187952822	RCV000654963\|RCV001816651\|RCV001813541\|RCV003144457\|RCV003325210;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:C3661900\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156088	119156088	NC_000011.9:g.119156088C>T	ClinGen:CA6318601	CN166718 Rasopathy;
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu)	867	CBL	Conflicting interpretations of pathogenicity	727504640	RCV000155901\|RCV000492503\|RCV001244706;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119156089	119156089	11:g.119156089G>T	ClinGen:CA183762	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1776C>T (p.Pro592=)	867	CBL	Conflicting interpretations of pathogenicity	886047769	RCV000266876\|RCV003278754;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN230736	11	119156111	119156111	NC_000011.9:g.119156111C>T	ClinGen:CA10637833	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)	867	CBL	Uncertain significance	775675805	RCV001050411\|RCV001192737\|RCV001759779\|RCV002400284\|RCV002489613;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphan	11	119156118	119156118	11:g.119156118A>G	-
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala)	867	CBL	Uncertain significance	1340017837	RCV001106054\|RCV001856425;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119156130	119156130	11:g.119156130C>G	-
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr)	867	CBL	Uncertain significance	763666786	RCV001106055\|RCV001873505;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119156157	119156157	11:g.119156157C>A	-
NM_005188.4(CBL):c.1829C>A (p.Thr610Lys)	867	CBL	Conflicting interpretations of pathogenicity	730880427	RCV000157852\|RCV000324245;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156164	119156164	11:g.119156164C>A	ClinGen:CA295968	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)	867	CBL	Uncertain significance	780457588	RCV000414250\|RCV000654918\|RCV002481275;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156185	119156185	NC_000011.9:g.119156185G>T	ClinGen:CA6318617	CN169374 not specified;
NM_005188.4(CBL):c.1850G>A (p.Arg617Gln)	867	CBL	Uncertain significance	780457588	RCV000703955\|RCV003389059;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119156185	119156185	NC_000011.9:g.119156185G>A	-	CN166718 Rasopathy;
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)	867	CBL	Benign	2227988	RCV000038354\|RCV000229556\|RCV001000367\|RCV001701577\|RCV001813347\|RCV002408519\|RCV002496610\|RCV003315562;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119156193	119156193	11:g.119156193C>T	ClinGen:CA135712,UniProtKB:P22681#VAR_057211	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.1920G>A (p.Thr640=)	867	CBL	Likely benign	202158626	RCV001001630\|RCV001458185\|RCV002406490;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN230736	11	119156255	119156255	11:g.119156255G>A	ClinGen:CA6318624	CN166718 Rasopathy;
NM_005188.4(CBL):c.1927C>T (p.Leu643=)	867	CBL	Likely benign	139939244	RCV000825715\|RCV001505302\|RCV002497197;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119156262	119156262	11:g.119156262C>T	ClinGen:CA6318627	CN166718 Rasopathy;
NM_005188.4(CBL):c.1945A>G (p.Met649Val)	867	CBL	Uncertain significance	769423231	RCV000415487\|RCV000464992;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119158565	119158565	NC_000011.9:g.119158565A>G	ClinGen:CA6318646	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.1967G>A (p.Gly656Asp)	867	CBL	Uncertain significance	886047770	RCV000284244;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119158587	119158587	NC_000011.9:g.119158587G>A	ClinGen:CA10637377	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2041_2044inv (p.Leu681_Pro682delinsGluAla)	867	CBL	Uncertain significance	-1	RCV001204481\|RCV002291732;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119167632	119167635	NC_000011.9:g.119167632_119167635inv	-
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser)	867	CBL	Uncertain significance	587778154	RCV000120458\|RCV000327543\|RCV000680340\|RCV001682830\|RCV002514626;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN517202\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119167641	119167641	NC_000011.9:g.119167641C>T	ClinGen:CA157848	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2052A>C (p.Pro684=)	867	CBL	Conflicting interpretations of pathogenicity	886047771	RCV000384547\|RCV001454558\|RCV001375539\|RCV002418153;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MedGen:CN230736	11	119167643	119167643	NC_000011.9:g.119167643A>C	ClinGen:CA10637835	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2055A>G (p.Lys685=)	867	CBL	Conflicting interpretations of pathogenicity	1454595224	RCV000538064\|RCV002497198;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119167646	119167646	NC_000011.9:g.119167646A>G	ClinGen:CA477129850	CN166718 Rasopathy;
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)	867	CBL	Conflicting interpretations of pathogenicity	146705974	RCV000287851\|RCV000654929\|RCV001280639\|RCV001704138\|RCV001813408;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733	11	119167651	119167651	NC_000011.9:g.119167651C>T	ClinGen:CA296005	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)	867	CBL	Conflicting interpretations of pathogenicity	143975631	RCV000231078\|RCV002487074\|RCV003298302;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834\|MedGen:CN230736	11	119167674	119167674	NC_000011.9:g.119167674G>A	ClinGen:CA10582878	CN166718 Rasopathy;
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)	867	CBL	Conflicting interpretations of pathogenicity	539217274	RCV001866428\|RCV002482454\|RCV003164062;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN230736	11	119167677	119167677	119167677	-
NM_005188.4(CBL):c.2096A>G (p.Glu699Gly)	867	CBL	Uncertain significance	866325598	RCV000345485;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119167687	119167687	NC_000011.9:g.119167687A>G	ClinGen:CA10633643	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2097G>A (p.Glu699=)	867	CBL	Likely benign	1057519031	RCV000415477\|RCV001491383;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119167688	119167688	NC_000011.9:g.119167688G>A	ClinGen:CA16043921	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg)	867	CBL	Uncertain significance	576175174	RCV002246192;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119167711	119167711	119167711	-
NM_005188.4(CBL):c.2125C>T (p.Arg709Trp)	867	CBL	Uncertain significance	587778155	RCV000120459\|RCV001108284\|RCV002515827\|RCV003144131;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN517202	11	119167716	119167716	NC_000011.9:g.119167716C>T	ClinGen:CA157851	CN169374 not specified;
NM_005188.4(CBL):c.2190G>C (p.Thr730=)	867	CBL	Benign/Likely benign	143840974	RCV000124142\|RCV000233667\|RCV000391887\|RCV001579706\|RCV001813384\|RCV002415611\|RCV003315844;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119168130	119168130	NC_000011.9:g.119168130G>C	ClinGen:CA289968	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)	867	CBL	Benign/Likely benign	2227986	RCV000038355\|RCV000296277\|RCV000680285\|RCV001089042\|RCV001813228;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733	11	119168156	119168156	11:g.119168156C>T	ClinGen:CA135715	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)	867	CBL	Benign/Likely benign	146517083	RCV000120463\|RCV000514779\|RCV001001629\|RCV001080932\|RCV001813229\|RCV003315531;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:001190	11	119169085	119169085	11:g.119169085G>A	ClinGen:CA157863	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu)	867	CBL	Benign/Likely benign	774428573	RCV000541862\|RCV001108285\|RCV001613382;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN517202	11	119169132	119169132	NC_000011.9:g.119169132T>G	ClinGen:CA6318749	CN166718 Rasopathy;
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)	867	CBL	Conflicting interpretations of pathogenicity	2229073	RCV000038358\|RCV000106328\|RCV000680286\|RCV001088335\|RCV001813231\|RCV002426535;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736	11	119169161	119169161	11:g.119169161C>T	ClinGen:CA135724,UniProtKB:P22681#VAR_057212	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;
NM_005188.4(CBL):c.2349C>T (p.Ala783=)	867	CBL	Likely benign	552509693	RCV000866775\|RCV001193408\|RCV002495265\|RCV002442828;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834\|MedGen:CN230736	11	119169165	119169165	11:g.119169165C>T	-
NM_005188.4(CBL):c.2350G>A (p.Val784Met)	867	CBL	Uncertain significance	140725852	RCV000033370\|RCV000467413\|RCV002504854\|RCV003415758;	N	MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972; Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834\|	11	119169166	119169166	NC_000011.9:g.119169166G>A	ClinGen:CA282046	CN169374 not specified;
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys)	867	CBL	Uncertain significance	1285510326	RCV001108286\|RCV001856445;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391	11	119169215	119169215	11:g.119169215T>G	-
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)	867	CBL	Uncertain significance	1465141746	RCV002026024\|RCV002479744;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119169217	119169217	119169217	-
NM_005188.4(CBL):c.2435-1_2435del	867	CBL	Uncertain significance	749424087	RCV001989286\|RCV002492290;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170203	119170204	119170202	-
NM_005188.4(CBL):c.2444A>C (p.Glu815Ala)	867	CBL	Uncertain significance	1950085293	RCV001196736;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170214	119170214	11:g.119170214A>C	-
NM_005188.4(CBL):c.2482C>G (p.Pro828Ala)	867	CBL	Uncertain significance	-1	RCV003447873;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170252	119170252		-
NM_005188.4(CBL):c.2484G>A (p.Pro828=)	867	CBL	Conflicting interpretations of pathogenicity	149533467	RCV000154693\|RCV000460543\|RCV001103081\|RCV001813232\|RCV002227048\|RCV002426536\|RCV003315532;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:C3661900\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119170254	119170254	11:g.119170254G>A	ClinGen:CA181181	CN169374 not specified;
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)	867	CBL	Conflicting interpretations of pathogenicity	374672276	RCV000038360\|RCV001103082\|RCV001320329\|RCV003326336;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:C3661900	11	119170256	119170256	11:g.119170256G>A	ClinGen:CA135728	CN169374 not specified;
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)	867	CBL	Uncertain significance	1950085952	RCV002033152\|RCV002503352;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170272	119170272	119170272	-
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)	867	CBL	Uncertain significance	376536789	RCV001209581\|RCV002504248;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170289	119170289	11:g.119170289G>A	-
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)	867	CBL	Uncertain significance	112330156	RCV000809966\|RCV001420768\|RCV002487751;	N	MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN169374\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170290	119170290	11:g.119170290T>G	-
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)	867	CBL	Uncertain significance	587778159	RCV000120464\|RCV001103083\|RCV002477308\|RCV002517578;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MOND	11	119170300	119170300	NC_000011.9:g.119170300A>C	ClinGen:CA157866	CN169374 not specified;
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)	867	CBL	Benign/Likely benign	201631570	RCV000338492\|RCV001420785\|RCV001469615\|RCV001813454;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733	11	119170339	119170339	NC_000011.9:g.119170339C>T	ClinGen:CA6318812	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)	867	CBL	Uncertain significance	397507498	RCV000033374\|RCV001223148\|RCV002504855;	N	MedGen:CN517202\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170354	119170354	NC_000011.9:g.119170354G>A	ClinGen:CA282055	CN169374 not specified;
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)	867	CBL	Conflicting interpretations of pathogenicity	146250423	RCV000038357\|RCV000540019\|RCV000680287\|RCV001103084\|RCV002513324;	N	MedGen:CN169374\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:C3661900\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MeSH:D030342,MedGen:C0950123	11	119170358	119170358	11:g.119170358A>G	ClinGen:CA135721	CN517202 not provided;
NM_005188.4(CBL):c.2592C>T (p.Leu864=)	867	CBL	Benign	1893177	RCV000038363\|RCV000404375\|RCV000462737\|RCV001813348\|RCV002453316\|RCV003315563;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:001190	11	119170362	119170362	11:g.119170362C>T	ClinGen:CA135737	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)	867	CBL	Uncertain significance	-1	RCV003333400\|RCV003333399;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834	11	119170424	119170424		-
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln)	867	CBL	Uncertain significance	751198294	RCV000593423\|RCV001103085\|RCV001303309\|RCV003222055;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MedGen:CN517202	11	119170448	119170448	NC_000011.9:g.119170448G>A	ClinGen:CA229653063	CN169374 not specified;
NM_005188.4(CBL):c.2710G>A (p.Val904Ile)	867	CBL	Benign/Likely benign	17122769	RCV000120465\|RCV000298937\|RCV000514119\|RCV001084617\|RCV001813379\|RCV002426667\|RCV003315742;	N	MedGen:CN169374\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0020297,MedGen:C5681679, Orphanet:98733\|MedGen:CN230736\|Human Phenotype Ontology:HP:0012209,MO	11	119170480	119170480	11:g.119170480G>A	ClinGen:CA157869,UniProtKB:P22681#VAR_057213	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*39G>A	867	CBL	Benign/Likely benign	17848890	RCV000360675\|RCV001544903;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119170530	119170530	NC_000011.9:g.119170530G>A	ClinGen:CA6318831	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*43G>A	867	CBL	Uncertain significance	753607176	RCV001104993;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170534	119170534	11:g.119170534G>A	-
NM_005188.4(CBL):c.*239A>G	867	CBL	Benign	140332874	RCV000268415;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170730	119170730	NC_000011.9:g.119170730A>G	ClinGen:CA10629969	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*282C>G	867	CBL	Uncertain significance	886047773	RCV000302559;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170773	119170773	NC_000011.9:g.119170773C>G	ClinGen:CA10629970	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*329A>G	867	CBL	Benign	145498486	RCV001104994;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170820	119170820	11:g.119170820A>G	-
NM_005188.4(CBL):c.*337A>C	867	CBL	Benign	570986029	RCV001104995;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119170828	119170828	11:g.119170828A>C	-
NM_005188.4(CBL):c.*513A>G	867	CBL	Benign	138124151	RCV000269927;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171004	119171004	NC_000011.9:g.119171004A>G	ClinGen:CA10629971	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*560A>T	867	CBL	Uncertain significance	202218081	RCV001104996;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171051	119171051	11:g.119171051A>T	-
NM_005188.4(CBL):c.*567G>A	867	CBL	Benign/Likely benign	573261482	RCV000384166\|RCV003422232;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119171058	119171058	NC_000011.9:g.119171058G>A	ClinGen:CA10637836	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*615C>T	867	CBL	Conflicting interpretations of pathogenicity	769151797	RCV000275630\|RCV002480103\|RCV003422233;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785, Orphanet:86834; MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119171106	119171106	NC_000011.9:g.119171106C>T	ClinGen:CA10637841	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*660A>G	867	CBL	Uncertain significance	1019106598	RCV001106154;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171151	119171151	11:g.119171151A>G	-
NM_005188.4(CBL):c.*918T>C	867	CBL	Conflicting interpretations of pathogenicity	541035764	RCV000330746\|RCV003422234;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119171409	119171409	NC_000011.9:g.119171409T>C	ClinGen:CA10629975	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*932A>G	867	CBL	Uncertain significance	886047774	RCV000389832;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171423	119171423	NC_000011.9:g.119171423A>G	ClinGen:CA10637848	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*950G>T	867	CBL	Uncertain significance	886047775	RCV000295620;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171441	119171441	NC_000011.9:g.119171441G>T	ClinGen:CA10629977	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*986A>C	867	CBL	Uncertain significance	886047776	RCV000336364;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171477	119171477	NC_000011.9:g.119171477A>C	ClinGen:CA10629979	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1059G>A	867	CBL	Uncertain significance	544728305	RCV001106155;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171550	119171550	11:g.119171550G>A	-
NM_005188.4(CBL):c.*1158A>G	867	CBL	Benign	560822342	RCV000282527;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171649	119171649	NC_000011.9:g.119171649A>G	ClinGen:CA10637854	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1164T>G	867	CBL	Uncertain significance	1190145121	RCV001108363;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171655	119171655	11:g.119171655T>G	-
NM_005188.4(CBL):c.*1252G>A	867	CBL	Uncertain significance	961476506	RCV001108364;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171743	119171743	11:g.119171743G>A	-
NM_005188.4(CBL):c.*1258G>A	867	CBL	Uncertain significance	886047777	RCV000337605;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171749	119171749	NC_000011.9:g.119171749G>A	ClinGen:CA10637866	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1447A>G	867	CBL	Benign	148077385	RCV000392307;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171938	119171938	NC_000011.9:g.119171938A>G	ClinGen:CA10637386	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1487A>G	867	CBL	Uncertain significance	780157945	RCV000302216;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119171978	119171978	NC_000011.9:g.119171978A>G	ClinGen:CA10637870	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1581G>A	867	CBL	Uncertain significance	985042927	RCV001108365;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172072	119172072	11:g.119172072G>A	-
NM_005188.4(CBL):c.*1594T>A	867	CBL	Benign	193152909	RCV000343039;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172085	119172085	NC_000011.9:g.119172085T>A	ClinGen:CA10637390	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1661G>T	867	CBL	Uncertain significance	886047778	RCV000402875;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172152	119172152	NC_000011.9:g.119172152G>T	ClinGen:CA10637393	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1686A>C	867	CBL	Benign	147266033	RCV000308229;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172177	119172177	NC_000011.9:g.119172177A>C	ClinGen:CA10633647	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1711T>C	867	CBL	Uncertain significance	886047779	RCV000362943;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172202	119172202	NC_000011.9:g.119172202T>C	ClinGen:CA10637871	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1712A>G	867	CBL	Uncertain significance	955215944	RCV001103198;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172203	119172203	11:g.119172203A>G	-
NM_005188.4(CBL):c.*1733T>G	867	CBL	Uncertain significance	190569484	RCV000309370;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172224	119172224	NC_000011.9:g.119172224T>G	ClinGen:CA10637396	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1856T>C	867	CBL	Benign	75631490	RCV000368265;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172347	119172347	NC_000011.9:g.119172347T>C	ClinGen:CA10637876	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1884C>T	867	CBL	Uncertain significance	772494648	RCV000273692;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172375	119172375	NC_000011.9:g.119172375C>T	ClinGen:CA10633648	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1915T>C	867	CBL	Benign	1918	RCV000333476;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172406	119172406	NC_000011.9:g.119172406T>C	ClinGen:CA10637403	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1918C>T	867	CBL	Conflicting interpretations of pathogenicity	528450894	RCV000388040\|RCV003422235;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119172409	119172409	NC_000011.9:g.119172409C>T	ClinGen:CA10637404	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1933C>T	867	CBL	Benign	529781104	RCV000260502;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172424	119172424	NC_000011.9:g.119172424C>T	ClinGen:CA10637879	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*1965G>A	867	CBL	Uncertain significance	886047781	RCV000315703;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172456	119172456	NC_000011.9:g.119172456G>A	ClinGen:CA10629988	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2008A>T	867	CBL	Uncertain significance	1483681182	RCV001105111;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172499	119172499	11:g.119172499A>T	-
NM_005188.4(CBL):c.*2045A>G	867	CBL	Benign	1047417	RCV000374919;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172536	119172536	NC_000011.9:g.119172536A>G	ClinGen:CA10629989	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2105T>C	867	CBL	Uncertain significance	1051083897	RCV001105112;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172596	119172596	11:g.119172596T>C	-
NM_005188.4(CBL):c.*2137C>T	867	CBL	Uncertain significance	886047783	RCV000340594;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172628	119172628	NC_000011.9:g.119172628C>T	ClinGen:CA10637896	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2147C>G	867	CBL	Benign	574006776	RCV001105113;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172638	119172638	11:g.119172638C>G	-
NM_005188.4(CBL):c.*2174G>A	867	CBL	Uncertain significance	938383932	RCV001106240;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172665	119172665	11:g.119172665G>A	-
NM_005188.4(CBL):c.*2176T>C	867	CBL	Benign/Likely benign	143211426	RCV000376605\|RCV003422236;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119172667	119172667	NC_000011.9:g.119172667T>C	ClinGen:CA10629995	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2224A>G	867	CBL	Conflicting interpretations of pathogenicity	550910545	RCV000286810\|RCV003422237;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119172715	119172715	NC_000011.9:g.119172715A>G	ClinGen:CA10629997	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2423C>T	867	CBL	Benign	117804312	RCV000341767;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119172914	119172914	NC_000011.9:g.119172914C>T	ClinGen:CA10637405	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2554G>C	867	CBL	Uncertain significance	886047784	RCV000393762;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173045	119173045	NC_000011.9:g.119173045G>C	ClinGen:CA10637406	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2619C>T	867	CBL	Benign	147497664	RCV000287758;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173110	119173110	NC_000011.9:g.119173110C>T	ClinGen:CA10630002	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*2697C>T	867	CBL	Benign	118116976	RCV000347447;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173188	119173188	NC_000011.9:g.119173188C>T	ClinGen:CA10633651	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3026C>T	867	CBL	Uncertain significance	886047786	RCV000311594;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173517	119173517	NC_000011.9:g.119173517C>T	ClinGen:CA10637407	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3031A>C	867	CBL	Uncertain significance	1950110710	RCV001108464;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173522	119173522	11:g.119173522A>C	-
NM_005188.4(CBL):c.*3096C>G	867	CBL	Benign	150053029	RCV000370903;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173587	119173587	NC_000011.9:g.119173587C>G	ClinGen:CA10637903	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3153C>T	867	CBL	Uncertain significance	964570263	RCV001108465;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173644	119173644	11:g.119173644C>T	-
NM_005188.4(CBL):c.*3154C>T	867	CBL	Benign/Likely benign	112984401	RCV000298641\|RCV003422238;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119173645	119173645	NC_000011.9:g.119173645C>T	ClinGen:CA10633652	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3167G>A	867	CBL	Benign	145419944	RCV000353690;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173658	119173658	NC_000011.9:g.119173658G>A	ClinGen:CA10637904	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3272T>C	867	CBL	Uncertain significance	148606028	RCV000318775;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173763	119173763	NC_000011.9:g.119173763T>C	ClinGen:CA10637905	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3336A>G	867	CBL	Uncertain significance	886047789	RCV000359465;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173827	119173827	NC_000011.9:g.119173827A>G	ClinGen:CA10630006	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3399T>C	867	CBL	Uncertain significance	1950113170	RCV001108466;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173890	119173890	11:g.119173890T>C	-
NM_005188.4(CBL):c.*3437C>T	867	CBL	Uncertain significance	774175986	RCV000264845;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119173928	119173928	NC_000011.9:g.119173928C>T	ClinGen:CA10637408	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3578A>T	867	CBL	Benign	140313356	RCV000324729;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174069	119174069	NC_000011.9:g.119174069A>T	ClinGen:CA10637409	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3622T>C	867	CBL	Uncertain significance	1023495416	RCV001103282;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174113	119174113	11:g.119174113T>C	-
NM_005188.4(CBL):c.*3656C>T	867	CBL	Benign	145348523	RCV000379298;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174147	119174147	NC_000011.9:g.119174147C>T	ClinGen:CA10633663	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3714C>T	867	CBL	Uncertain significance	886047790	RCV000288749;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174205	119174205	NC_000011.9:g.119174205C>T	ClinGen:CA10633664	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3854G>A	867	CBL	Benign	115544781	RCV000325005;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174345	119174345	NC_000011.9:g.119174345G>A	ClinGen:CA10633676	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*3950T>C	867	CBL	Uncertain significance	1950116455	RCV001103283;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174441	119174441	11:g.119174441T>C	-
NM_005188.4(CBL):c.*3978G>C	867	CBL	Uncertain significance	752715099	RCV001103284;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174469	119174469	11:g.119174469G>C	-
NM_005188.4(CBL):c.*4019G>A	867	CBL	Uncertain significance	1369491273	RCV001105198;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174510	119174510	11:g.119174510G>A	-
NM_005188.4(CBL):c.*4029C>T	867	CBL	Uncertain significance	563585627	RCV000384230;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174520	119174520	NC_000011.9:g.119174520C>T	ClinGen:CA10637907	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4031C>G	867	CBL	Benign/Likely benign	117973382	RCV000289793\|RCV003422239;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119174522	119174522	NC_000011.9:g.119174522C>G	ClinGen:CA10637908	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4038A>G	867	CBL	Uncertain significance	754325180	RCV000349446;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174529	119174529	NC_000011.9:g.119174529A>G	ClinGen:CA10633677	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4085C>G	867	CBL	Benign	11604328	RCV000407052;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174576	119174576	NC_000011.9:g.119174576C>G	ClinGen:CA10637909	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4088C>T	867	CBL	Benign	140837295	RCV000296681;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174579	119174579	NC_000011.9:g.119174579C>T	ClinGen:CA10633686	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4118A>G	867	CBL	Benign	192175025	RCV000351698;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174609	119174609	NC_000011.9:g.119174609A>G	ClinGen:CA10637412	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4140G>A	867	CBL	Uncertain significance	886047791	RCV000407045;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174631	119174631	NC_000011.9:g.119174631G>A	ClinGen:CA10633702	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4177C>T	867	CBL	Uncertain significance	886047792	RCV000297742;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174668	119174668	NC_000011.9:g.119174668C>T	ClinGen:CA10630010	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4227C>T	867	CBL	Uncertain significance	750704582	RCV000357289;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174718	119174718	NC_000011.9:g.119174718C>T	ClinGen:CA10637413	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4302C>T	867	CBL	Benign	114801312	RCV000405617;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174793	119174793	NC_000011.9:g.119174793C>T	ClinGen:CA10630011	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4337C>T	867	CBL	Uncertain significance	773126690	RCV001106327;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174828	119174828	11:g.119174828C>T	-
NM_005188.4(CBL):c.*4390C>G	867	CBL	Uncertain significance	886047793	RCV000303728;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119174881	119174881	NC_000011.9:g.119174881C>G	ClinGen:CA10633704	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4542C>T	867	CBL	Uncertain significance	1433663090	RCV001106328;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175033	119175033	11:g.119175033C>T	-
NM_005188.4(CBL):c.*4584C>A	867	CBL	Benign	2509671	RCV000358213;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175075	119175075	NC_000011.9:g.119175075C>A	ClinGen:CA10633712	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4667G>A	867	CBL	Uncertain significance	886562978	RCV001106329;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175158	119175158	11:g.119175158G>A	-
NM_005188.4(CBL):c.*4716C>G	867	CBL	Uncertain significance	1475009534	RCV001108549;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175207	119175207	11:g.119175207C>G	-
NM_005188.4(CBL):c.*4755A>C	867	CBL	Uncertain significance	190266043	RCV001108550;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175246	119175246	11:g.119175246A>C	-
NM_005188.4(CBL):c.*4818C>T	867	CBL	Uncertain significance	886047794	RCV000268184;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175309	119175309	NC_000011.9:g.119175309C>T	ClinGen:CA10630012	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4849A>C	867	CBL	Uncertain significance	886047796	RCV000363896;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175340	119175340	NC_000011.9:g.119175340A>C	ClinGen:CA10637913	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4868T>C	867	CBL	Benign	150159135	RCV000269449;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175359	119175359	NC_000011.9:g.119175359T>C	ClinGen:CA10637914	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4877G>A	867	CBL	Uncertain significance	532404515	RCV000329124;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175368	119175368	NC_000011.9:g.119175368G>A	ClinGen:CA10637917	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4931T>C	867	CBL	Benign	2510145	RCV000383838;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175422	119175422	NC_000011.9:g.119175422T>C	ClinGen:CA10630013	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*4959C>T	867	CBL	Uncertain significance	886047797	RCV000294168;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175450	119175450	NC_000011.9:g.119175450C>T	ClinGen:CA10637928	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5006A>G	867	CBL	Uncertain significance	1950123628	RCV001103375;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175497	119175497	11:g.119175497A>G	-
NM_005188.4(CBL):c.*5008C>G	867	CBL	Uncertain significance	548349917	RCV000333364;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175499	119175499	NC_000011.9:g.119175499C>G	ClinGen:CA10637417	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5044C>T	867	CBL	Uncertain significance	956413373	RCV001103376;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175535	119175535	11:g.119175535C>T	-
NM_005188.4(CBL):c.*5093C>G	867	CBL	Uncertain significance	757662885	RCV000387962;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175584	119175584	NC_000011.9:g.119175584C>G	ClinGen:CA10633716	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5123C>T	867	CBL	Benign	149560809	RCV000279426;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175614	119175614	NC_000011.9:g.119175614C>T	ClinGen:CA10633717	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5134G>A	867	CBL	Uncertain significance	886047798	RCV000334432;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175625	119175625	NC_000011.9:g.119175625G>A	ClinGen:CA10637418	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5136G>A	867	CBL	Uncertain significance	985019007	RCV001103377;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175627	119175627	11:g.119175627G>A	-
NM_005188.4(CBL):c.*5139C>T	867	CBL	Uncertain significance	886047799	RCV000374985;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175630	119175630	NC_000011.9:g.119175630C>T	ClinGen:CA10630019	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5183C>T	867	CBL	Uncertain significance	376394251	RCV000280486;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175674	119175674	NC_000011.9:g.119175674C>T	ClinGen:CA10637938	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5379G>T	867	CBL	Uncertain significance	1950126052	RCV001105292;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119175870	119175870	11:g.119175870G>T	-
NM_005188.4(CBL):c.*5618G>A	867	CBL	Uncertain significance	936515006	RCV001105293;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176109	119176109	11:g.119176109G>A	-
NM_005188.4(CBL):c.*5632C>T	867	CBL	Benign/Likely benign	143069410	RCV000340104\|RCV003221898;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119176123	119176123	NC_000011.9:g.119176123C>T	ClinGen:CA10637940	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5637A>C	867	CBL	Uncertain significance	748854642	RCV001105294;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176128	119176128	11:g.119176128A>C	-
NM_005188.4(CBL):c.*5648T>C	867	CBL	Benign	79889393	RCV000391320;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176139	119176139	NC_000011.9:g.119176139T>C	ClinGen:CA10637419	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5717T>G	867	CBL	Benign	547307186	RCV000305556;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176208	119176208	NC_000011.9:g.119176208T>G	ClinGen:CA10630025	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5718C>A	867	CBL	Benign	572014227	RCV000341693;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176209	119176209	NC_000011.9:g.119176209C>A	ClinGen:CA10630027	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5756G>A	867	CBL	Benign	542978255	RCV000403301;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176247	119176247	NC_000011.9:g.119176247G>A	ClinGen:CA10633722	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5811C>T	867	CBL	Benign	569624112	RCV000365860;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176302	119176302	NC_000011.9:g.119176302C>T	ClinGen:CA10633723	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5860T>C	867	CBL	Uncertain significance	886047801	RCV000271541;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176351	119176351	NC_000011.9:g.119176351T>C	ClinGen:CA10633724	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5885A>G	867	CBL	Uncertain significance	148553071	RCV000312556;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176376	119176376	NC_000011.9:g.119176376A>G	ClinGen:CA10637948	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5907T>C	867	CBL	Benign	2511844	RCV000367190;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176398	119176398	NC_000011.9:g.119176398T>C	ClinGen:CA10630030	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5944C>T	867	CBL	Uncertain significance	962509368	RCV001106420;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176435	119176435	11:g.119176435C>T	-
NM_005188.4(CBL):c.*5953C>G	867	CBL	Uncertain significance	1216868913	RCV001106421;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176444	119176444	11:g.119176444C>G	-
NM_005188.4(CBL):c.*5986T>C	867	CBL	Uncertain significance	764329156	RCV000332638;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176477	119176477	NC_000011.9:g.119176477T>C	ClinGen:CA10630037	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*5987A>T	867	CBL	Benign	150688966	RCV000373177;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176478	119176478	NC_000011.9:g.119176478A>T	ClinGen:CA10633729	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6008T>C	867	CBL	Benign	3829261	RCV000259884;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176499	119176499	NC_000011.9:g.119176499T>C	ClinGen:CA10633731	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6099A>G	867	CBL	Uncertain significance	575606651	RCV000319837;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176590	119176590	NC_000011.9:g.119176590A>G	ClinGen:CA10637951	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6126T>A	867	CBL	Uncertain significance	886047803	RCV000374466;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176617	119176617	NC_000011.9:g.119176617T>A	ClinGen:CA10637958	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6175A>G	867	CBL	Uncertain significance	775450592	RCV000284728;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176666	119176666	NC_000011.9:g.119176666A>G	ClinGen:CA10630038	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6261A>T	867	CBL	Uncertain significance	1343711218	RCV001108631;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176752	119176752	11:g.119176752A>T	-
NM_005188.4(CBL):c.*6265C>A	867	CBL	Uncertain significance	886047804	RCV000339771;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176756	119176756	NC_000011.9:g.119176756C>A	ClinGen:CA10633732	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6362G>A	867	CBL	Uncertain significance	886047805	RCV000380373;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176853	119176853	NC_000011.9:g.119176853G>A	ClinGen:CA10637959	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6429T>C	867	CBL	Uncertain significance	1950139475	RCV001103453;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176920	119176920	11:g.119176920T>C	-
NM_005188.4(CBL):c.*6430G>C	867	CBL	Uncertain significance	886047806	RCV000286494;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176921	119176921	NC_000011.9:g.119176921G>C	ClinGen:CA10630039	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6484G>A	867	CBL	Uncertain significance	752004590	RCV001103454;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119176975	119176975	11:g.119176975G>A	-
NM_005188.4(CBL):c.*6528T>C	867	CBL	Uncertain significance	1027364028	RCV001103455;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177019	119177019	11:g.119177019T>C	-
NM_005188.4(CBL):c.*6532A>G	867	CBL	Uncertain significance	1374763076	RCV001103456;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177023	119177023	11:g.119177023A>G	-
NM_005188.4(CBL):c.*6542T>G	867	CBL	Benign	550863116	RCV000343762;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177033	119177033	NC_000011.9:g.119177033T>G	ClinGen:CA10637422	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6575G>C	867	CBL	Conflicting interpretations of pathogenicity	569180524	RCV000393915\|RCV003422240;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119177066	119177066	NC_000011.9:g.119177066G>C	ClinGen:CA10637961	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6648T>G	867	CBL	Benign	544221090	RCV000308655;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177139	119177139	NC_000011.9:g.119177139T>G	ClinGen:CA10633733	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6678G>A	867	CBL	Uncertain significance	1033501528	RCV001105373;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177169	119177169	11:g.119177169G>A	-
NM_005188.4(CBL):c.*6703T>C	867	CBL	Conflicting interpretations of pathogenicity	562568416	RCV000347193\|RCV003422241;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972\|MedGen:C3661900	11	119177194	119177194	NC_000011.9:g.119177194T>C	ClinGen:CA10633735	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6712C>G	867	CBL	Uncertain significance	1950142606	RCV001105374;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177203	119177203	11:g.119177203C>G	-
NM_005188.4(CBL):c.*6729C>T	867	CBL	Uncertain significance	1950142754	RCV001105375;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177220	119177220	11:g.119177220C>T	-
NM_005188.4(CBL):c.*6732C>A	867	CBL	Benign	140028176	RCV000393930;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177223	119177223	NC_000011.9:g.119177223C>A	ClinGen:CA10630044	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6767C>G	867	CBL	Uncertain significance	539341635	RCV000312164;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177258	119177258	NC_000011.9:g.119177258C>G	ClinGen:CA10637423	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6795A>G	867	CBL	Uncertain significance	185187005	RCV001105376;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177286	119177286	11:g.119177286A>G	-
NM_005188.4(CBL):c.*6806T>C	867	CBL	Uncertain significance	776910322	RCV001106515;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177297	119177297	11:g.119177297T>C	-
NM_005188.4(CBL):c.*6872A>T	867	CBL	Uncertain significance	1950144572	RCV001106516;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177363	119177363	11:g.119177363A>T	-
NM_005188.4(CBL):c.*6933C>A	867	CBL	Uncertain significance	886047807	RCV000371282;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177424	119177424	NC_000011.9:g.119177424C>A	ClinGen:CA10637965	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*6980T>C	867	CBL	Uncertain significance	886047808	RCV000260294;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177471	119177471	NC_000011.9:g.119177471T>C	ClinGen:CA10637428	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7030T>G	867	CBL	Uncertain significance	573405123	RCV001106517;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177521	119177521	11:g.119177521T>G	-
NM_005188.4(CBL):c.*7081T>G	867	CBL	Uncertain significance	886047809	RCV000299135;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177572	119177572	NC_000011.9:g.119177572T>G	ClinGen:CA10630048	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7143A>C	867	CBL	Benign	146650854	RCV000356311;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177634	119177634	NC_000011.9:g.119177634A>C	ClinGen:CA10630053	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7167A>C	867	CBL	Uncertain significance	886047812	RCV000378293;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177658	119177658	NC_000011.9:g.119177658A>C	ClinGen:CA10637430	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7241A>G	867	CBL	Uncertain significance	1950148768	RCV001108701;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177732	119177732	11:g.119177732A>G	-
NM_005188.4(CBL):c.*7314T>C	867	CBL	Benign	144022588	RCV000267370;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177805	119177805	NC_000011.9:g.119177805T>C	ClinGen:CA10630056	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7366C>T	867	CBL	Benign	534426893	RCV000324454;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177857	119177857	NC_000011.9:g.119177857C>T	ClinGen:CA10630057	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7447A>G	867	CBL	Benign	11217234	RCV000381388;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119177938	119177938	NC_000011.9:g.119177938A>G	ClinGen:CA10633737	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7559C>G	867	CBL	Benign	1052121	RCV000289292;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178050	119178050	NC_000011.9:g.119178050C>G	ClinGen:CA10637432	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7601G>A	867	CBL	Uncertain significance	1489248573	RCV001108702;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178092	119178092	11:g.119178092G>A	-
NM_005188.4(CBL):c.*7659C>A	867	CBL	Uncertain significance	567049953	RCV000384902;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178150	119178150	NC_000011.9:g.119178150C>A	ClinGen:CA10633738	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7659C>G	867	CBL	Uncertain significance	567049953	RCV000292924;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178150	119178150	NC_000011.9:g.119178150C>G	ClinGen:CA10637434	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7659C>T	867	CBL	Uncertain significance	567049953	RCV001103536;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178150	119178150	11:g.119178150C>T	-
NM_005188.4(CBL):c.*7678G>A	867	CBL	Benign	540742677	RCV001103537;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178169	119178169	11:g.119178169G>A	-
NM_005188.4(CBL):c.*7689C>G	867	CBL	Uncertain significance	187961956	RCV000350244;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178180	119178180	NC_000011.9:g.119178180C>G	ClinGen:CA10637979	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7761G>A	867	CBL	Uncertain significance	745412309	RCV000399245;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178252	119178252	NC_000011.9:g.119178252G>A	ClinGen:CA10637981	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7855C>T	867	CBL	Uncertain significance	1950156118	RCV001103538;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178346	119178346	11:g.119178346C>T	-
NM_005188.4(CBL):c.*7878C>T	867	CBL	Uncertain significance	1950156420	RCV001103539;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178369	119178369	11:g.119178369C>T	-
NM_005188.4(CBL):c.*7903G>A	867	CBL	Benign	201889676	RCV000295903;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178394	119178394	NC_000011.9:g.119178394G>A	ClinGen:CA10637436	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7904G>A	867	CBL	Uncertain significance	886047813	RCV000334489;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178395	119178395	NC_000011.9:g.119178395G>A	ClinGen:CA10630058	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7924C>A	867	CBL	Uncertain significance	758281196	RCV001105469;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178415	119178415	11:g.119178415C>A	-
NM_005188.4(CBL):c.*7949C>A	867	CBL	Benign	142183037	RCV000407196;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178440	119178440	NC_000011.9:g.119178440C>A	ClinGen:CA10630062	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*7978A>G	867	CBL	Benign	2511836	RCV000299393;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178469	119178469	NC_000011.9:g.119178469A>G	ClinGen:CA10630064	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*8012T>C	867	CBL	Benign	573686690	RCV000356453;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178503	119178503	NC_000011.9:g.119178503T>C	ClinGen:CA10630065	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*8017G>A	867	CBL	Benign	533150203	RCV000406197;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178508	119178508	NC_000011.9:g.119178508G>A	ClinGen:CA10637437	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*8048G>A	867	CBL	Benign	151221935	RCV000302826;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178539	119178539	NC_000011.9:g.119178539G>A	ClinGen:CA10630066	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*8058C>T	867	CBL	Uncertain significance	569107221	RCV000359885;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178549	119178549	NC_000011.9:g.119178549C>T	ClinGen:CA10637983	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*8149A>G	867	CBL	Benign	11243	RCV000267940;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178640	119178640	NC_000011.9:g.119178640A>G	ClinGen:CA10633742	CN239316 Noonan-Like Syndrome Disorder;
NM_005188.4(CBL):c.*8318C>T	867	CBL	Uncertain significance	942482775	RCV001106624;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	11	119178809	119178809	11:g.119178809C>T	-
NM_001369769.2(KIFC2):c.2280_2282delinsTTC (p.Cys761Ser)	8928	FOXH1	Uncertain significance	1586726058	RCV000853586;	N	MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:363972	8	145698676	145698678	NC_000008.10:g.145698676_145698678delinsTTC	-
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	5781	PTPN11	Pathogenic/Likely pathogenic	121918456	RCV000030620\|RCV000033504\|RCV000055890\|RCV000077859\|RCV000492270\|RCV000577894\|RCV000617951\|RCV000768062\|RCV000824744\|RCV001000775\|RCV001813194\|RCV003398502;	N	MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100, Orphanet:500\|MONDO:MONDO:0021060,MedGen:C5555857, Orphanet:536391\|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100, Orphanet:500\|MedGen:C3661900\|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563, Orphanet:3639	12	112910827	112910827	12:g.112910827A>G	ClinGen:CA220149,UniProtKB:Q06124#VAR_015614,OMIM:176876.0005	CN230736 Cardiovascular phenotype;

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