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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Neurofibromatoses (D017253)
Parent Node: Peripheral Nervous System Diseases (D010523)
..Starting node ..Neurofibromatosis 1 (D009456)
Child Nodes:
........WATSON SYNDROME (OMIM:193520)
Sister Nodes:
..Accessory deep peroneal nerve (C536001)
..Acrodynia (D000170)
..Amyloid Neuropathies (D017772) 3
..Brachial Plexus Neuropathies (D020516) 4
..Cataract ataxia deafness (C538283)
..Complex Regional Pain Syndromes (D020918) 2
..Corpus callosum agenesis neuronopathy (C536446)
..Deafness, X-Linked 5 (C564472)
..Diabetic Neuropathies (D003929) 2
..Giant Axonal Neuropathy (D056768) 1
..Guillain-Barre Syndrome (D020275) 1
..Hand-Arm Vibration Syndrome (D053421)
..Hypertrophic Neuropathy And Cataract (C565490)
..Inherited Peripheral Neuropathy (C548028)
..Isaacs Syndrome (D020386)
..Mononeuropathies (D020422) 15
..Navajo neurohepatopathy (C538344) 1
..Nerve Compression Syndromes (D009408) 13
..Neuralgia (D009437) 6
..Neuritis (D009443) 3
..Neurofibromatosis 1 (D009456) 1
..NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
..Neuropathy, Painful (C564945)
..Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine (C563516)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Pain Insensitivity, Congenital (D000699) 2
..Peripheral Nerve Injuries (D059348)
..Peripheral Nervous System Neoplasms (D010524) 25
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Polyneuropathies (D011115) 200
..Radiculopathy (D011843)
..Sacral plexopathy (C537224)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Tarlov Cysts (D052958)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7959

Name:

Neurofibromatosis 1

Definition:

An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Alternative IDs:

OMIM:162200

ParentIDs:

MESH:D010523|MESH:D017253

TreeNumbers:

C04.557.580.600.580.590.650 |C04.700.645.650 |C10.562.600.500 |C10.574.500.549.400 |C10.668.829.675 |C16.320.400.560.400 |C16.320.700.645.650

Synonyms:

Slim Mappings:

Cancer|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D009456
MeSH: D009456
OMIM: 162200;

Genes: NF1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002410	Aqueductal stenosis
3	HP:0009592	Astrocytoma
4	HP:0000997	Axillary freckling	HP:0040284
5	HP:0002857	Genu valgum
6	HP:0000501	Glaucoma
7	HP:0000238	Hydrocephalus
8	HP:0000316	Hypertelorism
9	HP:0000822	Hypertension
10	HP:0002521	Hypsarrhythmia
11	HP:0030052	Inguinal freckling	HP:0040284
12	HP:0001256	Intellectual disability, mild
13	HP:0009737	Lisch nodules	HP:0040284
14	HP:0000256	Macrocephaly	HP:0040284
15	HP:0002858	Meningioma
16	HP:0007565	Multiple cafe-au-lait spots	HP:0040284
17	HP:0100697	Neurofibrosarcoma
18	HP:0009734	Optic nerve glioma	HP:0040284
19	HP:0001548	Overgrowth
20	HP:0002897	Parathyroid adenoma
21	HP:0002666	Pheochromocytoma	HP:0040284
22	HP:0009732	Plexiform neurofibroma	HP:0040284
23	HP:0001920	Renal artery stenosis	HP:0040284
24	HP:0002859	Rhabdomyosarcoma
25	HP:0002650	Scoliosis	HP:0040284
26	HP:0001250	Seizure	HP:0040284
27	HP:0004322	Short stature	HP:0040284
28	HP:0001328	Specific learning disability	HP:0040284
29	HP:0002414	Spina bifida	HP:0040284
30	HP:0009735	Spinal neurofibromas	HP:0040284
31	HP:0009736	Tibial pseudarthrosis	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000267.3(NF1):c.4110+1791_7394+859dup	-1	-	Pathogenic	-1	RCV000200907;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29577928	29678195	NM_000267.3:c.4110+1791_7394+859dup		NC_000017.10:g.29577935delA	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4662-397_4773-14262del	-1	-	Pathogenic	-1	RCV000200950;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29591850	29638576	NM_000267.3:c.4662-397_4773-14262del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4773-22561_6311del	-1	-	Pathogenic	-1	RCV000200942;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29630277	29663879	NM_000267.3:c.4773-22561_6311del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.-8G>A	4763	NF1	Uncertain significance	864622331	RCV000204785;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29422320	29422320	NM_000267.3:c.-8G>A		NC_000017.10:g.29422320G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.17C>T (p.Pro6Leu)	4763	NF1	Uncertain significance	864622210	RCV000206070;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29422344	29422344	NM_000267.3:c.17C>T	NP_000258.1:p.Pro6Leu	NC_000017.10:g.29422344C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.61-16315_479+99del	4763	NF1	Pathogenic	-1	RCV000200885;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29466686	29490493	NM_000267.3:c.61-16315_479+99del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.61-12088_204+933del	4763	NF1	Pathogenic	-1	RCV000200940;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29470913	29484077	NM_000267.3:c.61-12088_204+933del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.61-6522_204+1022dup	4763	NF1	Pathogenic	-1	RCV000200951;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29476479	29484166	NM_000267.3:c.61-6522_204+1022dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.61-5189_205-1285del	4763	NF1	Pathogenic	-1	RCV000200900;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29477812	29484743	NM_000267.3:c.61-5189_205-1285del			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.83A>C (p.Gln28Pro)	4763	NF1	Uncertain significance	587782686	RCV000203778; RCV000132116;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29483023	29483023	NM_001042492.2:c.83A>C	NP_001035957.1:p.Gln28Pro	NC_000017.10:g.29483023A>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.107C>G (p.Thr36Ser)	4763	NF1	Likely benign;Uncertain significance	199966218	RCV000196537; RCV000129384;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29483047	29483047	NM_001042492.2:c.107C>G	NP_001035957.1:p.Thr36Ser	NC_000017.10:g.29483047C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.129A>C (p.Leu43=)	4763	NF1	Likely benign	759576680	RCV000200434; RCV000222562;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29483069	29483069	NM_000267.3:c.129A>C	NP_000258.1:p.Leu43=	NC_000017.10:g.29483069A>C	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.168C>T (p.Ser56=)	4763	NF1	Benign	17881168	RCV000205406; RCV000215995; RCV000163256;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29483108	29483108	NM_001042492.2:c.168C>T	NP_001035957.1:p.Ser56=	NC_000017.10:g.29483108C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.205-1284_289-944del	4763	NF1	Pathogenic	-1	RCV000200888;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29484744	29489260	NM_000267.3:c.205-1284_289-944del			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.231A>T (p.Lys77Asn)	4763	NF1	Uncertain significance	373563053	RCV000205241; RCV000129481;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29486054	29486054	NM_001042492.2:c.231A>T	NP_001035957.1:p.Lys77Asn	NC_000017.10:g.29486054A>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.241C>A (p.Leu81Ile)	4763	NF1	Uncertain significance	587782772	RCV000198417; RCV000132301;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29486064	29486064	NM_001042492.2:c.241C>A	NP_001035957.1:p.Leu81Ile	NC_000017.10:g.29486064C>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.288+230_480-1812delins323	4763	NF1	Pathogenic	-1	RCV000200945;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29486341	29495097	NM_000267.3:c.288+230_480-1812delins323			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.289-1237_586+3325del	4763	NF1	Pathogenic	-1	RCV000200949;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29488967	29500340	NM_000267.3:c.289-1237_586+3325del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.289-1171_888+1963dup	4763	NF1	Pathogenic	-1	RCV000200895;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29489033	29511646	NM_000267.3:c.289-1171_888+1963dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.289-956_586+4999del	4763	NF1	Pathogenic	-1	RCV000200891;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29489248	29502014	NM_000267.3:c.289-956_586+4999del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.289-950_586+3043del	4763	NF1	Pathogenic	-1	RCV000200920;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29489254	29500058	NM_000267.3:c.289-950_586+3043del			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.340C>T (p.Leu114=)	4763	NF1	Benign	7207410	RCV000198193; RCV000129656;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29490255	29490255	NM_001042492.2:c.340C>T	NP_001035957.1:p.Leu114=	NC_000017.10:g.29490255C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.354C>T (p.Cys118=)	4763	NF1	Likely benign	768777585	RCV000205914; RCV000165034;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29490269	29490269	NM_001042492.2:c.354C>T	NP_001035957.1:p.Cys118=	NC_000017.10:g.29490269C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.369C>G (p.Thr123=)	4763	NF1	Benign;Likely benign	146691765	RCV000197180; RCV000163483;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29490284	29490284	NM_001042492.2:c.369C>G	NP_001035957.1:p.Thr123=	NC_000017.10:g.29490284C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.403C>T (p.Arg135Trp)	4763	NF1	Uncertain significance	775191883	RCV000205474;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29490318	29490318	NM_000267.3:c.403C>T	NP_000258.1:p.Arg135Trp	NC_000017.10:g.29490318C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.456A>C (p.Ala152=)	4763	NF1	Likely benign	377481833	RCV000205786;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29490371	29490371	NM_000267.3:c.456A>C	NP_000258.1:p.Ala152=		-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.468C>T (p.Arg156=)	4763	NF1	Likely benign	779074793	RCV000195708;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29490383	29490383	NM_000267.3:c.468C>T	NP_000258.1:p.Arg156=	NC_000017.10:g.29490383C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.475A>G (p.Thr159Ala)	4763	NF1	Uncertain significance	371192107	RCV000206040; RCV000132115;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29490390	29490390	NM_001042492.2:c.475A>G	NP_001035957.1:p.Thr159Ala	NC_000017.10:g.29490390A>C,NC_000017.10:g.29490390A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.480-2989_586+3445del	4763	NF1	Pathogenic	-1	RCV000200893;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29493920	29500460	NM_000267.3:c.480-2989_586+3445del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.480-2832_888+5938delinsTTGAA	4763	NF1	Pathogenic	-1	RCV000200922;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29494077	29515621	NM_000267.3:c.480-2832_888+5938delinsTTGAA			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.525T>C (p.His175=)	4763	NF1	Likely benign	750358089	RCV000197874; RCV000222374;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29496954	29496954	NM_000267.3:c.525T>C	NP_000258.1:p.His175=	NC_000017.10:g.29496954T>C	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.528T>A (p.Asp176Glu)	4763	NF1	Benign;Likely benign	112306990	RCV000199175; RCV000034585; RCV000121638; RCV000129680;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374; MedGen:CN221809	17	29496957	29496957	NM_000267.3:c.528T>A	NP_000258.1:p.Asp176Glu	NC_000017.10:g.29496957T>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided; CN169374 not specified
NM_000267.3(NF1):c.574C>T (p.Arg192Ter)	4763	NF1	Pathogenic	397514641	RCV000033171;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29497003	29497003	NM_000267.3:c.574C>T	NP_000258.1:p.Arg192Ter	NC_000017.10:g.29497003C>T	OMIM Allelic Variant:613113.0046	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.586+2095_1261-2276delinsGTGG	4763	NF1	Pathogenic	-1	RCV000200926;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29499110	29530982	NM_000267.3:c.586+2095_1261-2276delinsGTGG			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.586+3099_1261-1045del	4763	NF1	Pathogenic	-1	RCV000200876;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29500114	29532213	NM_000267.3:c.586+3099_1261-1045del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.587-1766_888+1856del	4763	NF1	Pathogenic	-1	RCV000200896;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29506674	29511539	NM_000267.3:c.587-1766_888+1856del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.593C>A (p.Ala198Glu)	4763	NF1	Uncertain significance	863224663	RCV000198111;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29508446	29508446	NM_000267.3:c.593C>A	NP_000258.1:p.Ala198Glu	NC_000017.10:g.29508446C>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.625C>T (p.Gln209Ter)	4763	NF1	Pathogenic	786203448	RCV000204041; RCV000166757;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29508478	29508478	NM_001042492.2:c.625C>T	NP_001035957.1:p.Gln209Ter	NC_000017.10:g.29508478C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.655-60_888+5621delins135	4763	NF1	Pathogenic	-1	RCV000200870;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29508668	29515304	NM_000267.3:c.655-60_888+5621delins135			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.696A>G (p.Thr232=)	4763	NF1	Likely benign	368691517	RCV000200327; RCV000163501;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29508769	29508769	NM_001042492.2:c.696A>G	NP_001035957.1:p.Thr232=	NC_000017.10:g.29508769A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.703T>C (p.Tyr235His)	4763	NF1	Uncertain significance	864622465	RCV000205078; RCV000221863;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29508776	29508776	NM_000267.3:c.703T>C	NP_000258.1:p.Tyr235His		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.731-6A>C	4763	NF1	Likely benign	369366499	RCV000197061;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29509520	29509520	NM_000267.3:c.731-6A>C		NC_000017.10:g.29509520A>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.740A>G (p.Glu247Gly)	4763	NF1	Uncertain significance	864622385	RCV000206270;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29509535	29509535	NM_000267.3:c.740A>G	NP_000258.1:p.Glu247Gly	NC_000017.10:g.29509535A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.823A>T (p.Ile275Phe)	4763	NF1	Uncertain significance	786202464	RCV000200432;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29509618	29509618	NM_000267.3:c.823A>T	NP_000258.1:p.Ile275Phe	NC_000017.10:g.29509618A>C,NC_000017.10:g.29509618A>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.846G>A (p.Gln282=)	4763	NF1	Benign;Likely benign	138840528	RCV000199756; RCV000220521; RCV000163252;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29509641	29509641	NM_001042492.2:c.846G>A	NP_001035957.1:p.Gln282=	NC_000017.10:g.29509641G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.847G>T (p.Asp283Tyr)	4763	NF1	Uncertain significance	200572531	RCV000205213; RCV000034592; RCV000130047;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29509642	29509642	NM_000267.3:c.847G>T	NP_000258.1:p.Asp283Tyr	NC_000017.10:g.29509642G>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_001042492.2(NF1):c.861C>T (p.Asp287=)	4763	NF1	Likely benign	749949219	RCV000199232; RCV000220619; RCV000164254;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29509656	29509656	NM_001042492.2:c.861C>T	NP_001035957.1:p.Asp287=	NC_000017.10:g.29509656C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.885T>A (p.Asn295Lys)	4763	NF1	Uncertain significance	864622300	RCV000204948;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29509680	29509680	NM_000267.3:c.885T>A	NP_000258.1:p.Asn295Lys	NC_000017.10:g.29509680T>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.888+5515_1261-1635del	4763	NF1	Pathogenic	-1	RCV000200882;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29515198	29531623	NM_000267.3:c.888+5515_1261-1635del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.888+8334_1721+34delinsTC	4763	NF1	Pathogenic	-1	RCV000200886;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29518017	29548981	NM_000267.3:c.888+8334_1721+34delinsTC			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.889-8107_1261-278del	4763	NF1	Pathogenic	-1	RCV000200911;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29519333	29532980	NM_000267.3:c.889-8107_1261-278del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.889-894_1261-284del	4763	NF1	Pathogenic	-1	RCV000200941;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29526546	29532974	NM_000267.3:c.889-894_1261-284del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.889-453_908del	4763	NF1	Pathogenic	-1	RCV000200938;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29526987	29527459	NM_000267.3:c.889-453_908del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.889-6delC	4763	NF1	Likely benign	864622362	RCV000204154;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29527434	29527434	NM_000267.3:c.889-6delC		NC_000017.10:g.29527434delC	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1005T>C (p.Asn335=)	4763	NF1	Likely benign	777369021	RCV000199777; RCV000163833;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29527556	29527556	NM_001042492.2:c.1005T>C	NP_001035957.1:p.Asn335=	NC_000017.10:g.29527556T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1032A>G (p.Leu344=)	4763	NF1	Likely benign	199832006	RCV000206578; RCV000163379;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29527583	29527583	NM_001042492.2:c.1032A>G	NP_001035957.1:p.Leu344=	NC_000017.10:g.29527583A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1042T>C (p.Ser348Pro)	4763	NF1	Uncertain significance	864622064	RCV000205395;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29527593	29527593	NM_000267.3:c.1042T>C	NP_000258.1:p.Ser348Pro	NC_000017.10:g.29527593T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1058delT (p.Lys354Argfs)	4763	NF1	Pathogenic	863224488	RCV000196611;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29527609	29527609	NM_000267.3:c.1058delT	NP_000258.1:p.Lys354Argfs	NC_000017.10:g.29527609delT	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro)	4763	NF1	Pathogenic	137854563	RCV000000398; RCV000000399;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C1834235,OMIM:162210	17	29528062	29528062	NM_000267.3:c.1070T>C	NP_000258.1:p.Leu357Pro	NC_000017.10:g.29528062T>C	OMIM Allelic Variant:613113.0038	C1834235 162210 Neurofibromatosis, familial spinal; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1094C>A (p.Ser365Ter)	4763	NF1	Pathogenic	864622107	RCV000205613;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29528086	29528086	NM_000267.3:c.1094C>A	NP_000258.1:p.Ser365Ter	NC_000017.10:g.29528086C>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1137C>T (p.Cys379=)	4763	NF1	Likely benign	139648455	RCV000198742; RCV000163603;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29528129	29528129	NM_001042492.2:c.1137C>T	NP_001035957.1:p.Cys379=	NC_000017.10:g.29528129C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1166A>G (p.His389Arg)	4763	NF1	Uncertain significance	149739570	RCV000204985; RCV000130738;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29528158	29528158	NM_001042492.2:c.1166A>G	NP_001035957.1:p.His389Arg	NC_000017.10:g.29528158A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1182T>C (p.Phe394=)	4763	NF1	Likely benign	786202581	RCV000204529; RCV000165456;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29528174	29528174	NM_001042492.2:c.1182T>C	NP_001035957.1:p.Phe394=	NC_000017.10:g.29528174T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1185+1G>A	4763	NF1	Likely pathogenic	864622161	RCV000204498;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29528178	29528178	NM_000267.3:c.1185+1G>A		NC_000017.10:g.29528178G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1260+1G>A	4763	NF1	Pathogenic	267606603	RCV000000384;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29528504	29528504	NM_000267.3:c.1260+1G>A		NC_000017.10:g.29528504G>A	OMIM Allelic Variant:613113.0025	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1308G>A (p.Ser436=)	4763	NF1	Likely benign;Uncertain significance	765425127	RCV000204701; RCV000164423;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29533305	29533305	NM_001042492.2:c.1308G>A	NP_001035957.1:p.Ser436=	NC_000017.10:g.29533305G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1389A>G (p.Ala463=)	4763	NF1	Likely benign	1131923	RCV000206534;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29533386	29533386	NM_000267.3:c.1389A>G	NP_000258.1:p.Ala463=	NC_000017.10:g.29533386A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1392+7T>C	4763	NF1	Likely benign	773017698	RCV000203728;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29533396	29533396	NM_000267.3:c.1392+7T>C		NC_000017.10:g.29533396T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1393-3329_3975-6377del	4763	NF1	Pathogenic	-1	RCV000200927;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29538140	29569625	NM_000267.3:c.1393-3329_3975-6377del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1393-2652_1528-892del	4763	NF1	Pathogenic	-1	RCV000200946;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29538817	29545131	NM_000267.3:c.1393-2652_1528-892del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1393-2488_1642-648delinsAATAG	4763	NF1	Pathogenic	-1	RCV000200897;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29538981	29548220	NM_000267.3:c.1393-2488_1642-648delinsAATAG			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1393-1905_2251+85dup	4763	NF1	Pathogenic	-1	RCV000200925;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29539564	29553787	NM_000267.3:c.1393-1905_2251+85dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys)	4763	NF1	Pathogenic	137854557	RCV000000382;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29541542	29541542	NM_000267.3:c.1466A>G	NP_000258.1:p.Tyr489Cys	NC_000017.10:g.29541542A>G	OMIM Allelic Variant:613113.0023	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1479C>G (p.Leu493=)	4763	NF1	Likely benign	139653388	RCV000204003; RCV000215807;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29541555	29541555	NM_000267.3:c.1479C>G	NP_000258.1:p.Leu493=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.1523T>C (p.Leu508Pro)	4763	NF1	Pathogenic	137854558	RCV000000383;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29541599	29541599	NM_000267.3:c.1523T>C	NP_000258.1:p.Leu508Pro	NC_000017.10:g.29541599T>C	OMIM Allelic Variant:613113.0024	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1527+443_3709-761dup	4763	NF1	Pathogenic	-1	RCV000200871;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29542046	29561868	NM_000267.3:c.1527+443_3709-761dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1527+1509_1641+1137del	4763	NF1	Pathogenic	-1	RCV000200944;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29543112	29547273	NM_000267.3:c.1527+1509_1641+1137del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1528-960_1761del	4763	NF1	Pathogenic	-1	RCV000200890;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29545063	29550501	NM_000267.3:c.1528-960_1761del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1528-10T>C	4763	NF1	Likely benign	376174484	RCV000196509;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29546013	29546013	NM_000267.3:c.1528-10T>C		NC_000017.10:g.29546013T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1541_1542delAG (p.Gln514Argfs)	4763	NF1	Pathogenic	267606600	RCV000000374; RCV000164295;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29546036	29546037	NM_001042492.2:c.1541_1542delAG	NP_001035957.1:p.Gln514Argfs	NC_000017.10:g.29546036_29546037delAG	OMIM Allelic Variant:613113.0014	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1548C>T (p.Pro516=)	4763	NF1	Likely benign	768883989	RCV000200233; RCV000165212;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29546043	29546043	NM_001042492.2:c.1548C>T	NP_001035957.1:p.Pro516=	NC_000017.10:g.29546043C>G,NC_000017.10:g.29546043C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1548C>G (p.Pro516=)	4763	NF1	Likely benign	768883989	RCV000198711; RCV000215600;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29546043	29546043	NM_000267.3:c.1548C>G	NP_000258.1:p.Pro516=	NC_000017.10:g.29546043C>G,NC_000017.10:g.29546043C>T	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys)	4763	NF1	Uncertain significance	587778548	RCV000195429; RCV000121626; RCV000132222;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29546044	29546044	NM_000267.3:c.1549G>A	NP_000258.1:p.Glu517Lys	NC_000017.10:g.29546044G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.1588G>A (p.Val530Ile)	4763	NF1	Uncertain significance	145191978	RCV000205363; RCV000129860;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29546083	29546083	NM_001042492.2:c.1588G>A	NP_001035957.1:p.Val530Ile	NC_000017.10:g.29546083G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1595T>C (p.Leu532Pro)	4763	NF1	Pathogenic	199474737	RCV000168173; RCV000059154;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29546090	29546090	NM_000267.3:c.1595T>C	NP_000258.1:p.Leu532Pro	NC_000017.10:g.29546090T>C	UniProtKB (variants):VAR_032466	C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_001042492.2(NF1):c.1599C>G (p.Val533=)	4763	NF1	Likely benign	369458366	RCV000206359; RCV000163792;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29546094	29546094	NM_001042492.2:c.1599C>G	NP_001035957.1:p.Val533=	NC_000017.10:g.29546094C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1641+156_3975-2222del	4763	NF1	Pathogenic	-1	RCV000200929;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29546292	29573780	NM_000267.3:c.1641+156_3975-2222del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1642-449A>G	4763	NF1	Uncertain significance	863224655	RCV000197971;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29548419	29548419	NM_000267.3:c.1642-449A>G		NC_000017.10:g.29548419A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1642-8A>G	4763	NF1	Pathogenic	267606602	RCV000190422; RCV000000380;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C0349639,OMIM:607785,ORPHA:86834	17	29548860	29548860	NM_000267.3:c.1642-8A>G		NC_000017.10:g.29548860A>G	OMIM Allelic Variant:613113.0021	C0349639 607785 Juvenile myelomonocytic leukemia; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1661A>G (p.Gln554Arg)	4763	NF1	Uncertain significance	863224656	RCV000199877; RCV000221342;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29548887	29548887	NM_000267.3:c.1661A>G	NP_000258.1:p.Gln554Arg	NC_000017.10:g.29548887A>G	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.1713G>A (p.Trp571Ter)	4763	NF1	Pathogenic	863224489	RCV000198156;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29548939	29548939	NM_000267.3:c.1713G>A	NP_000258.1:p.Trp571Ter	NC_000017.10:g.29548939G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1733dupT (p.Tyr580Leufs)	4763	NF1	Pathogenic	786204255	RCV000168460;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29550473	29550473	NM_000267.3:c.1733dupT	NP_000258.1:p.Tyr580Leufs	NC_000017.10:g.29550473dupT	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1782_1783delAG (p.Glu595Asnfs)	4763	NF1	Pathogenic	786204059	RCV000167922;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29550522	29550523	NM_000267.3:c.1782_1783delAG	NP_000258.1:p.Glu595Asnfs	NC_000017.10:g.29550522_29550523delAG	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1806A>G (p.Glu602=)	4763	NF1	Likely benign;Uncertain significance	370454753	RCV000195612; RCV000165897;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29550546	29550546	NM_001042492.2:c.1806A>G	NP_001035957.1:p.Glu602=	NC_000017.10:g.29550546A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1810T>C (p.Leu604=)	4763	NF1	Benign;Likely benign	142712751	RCV000197954; RCV000216728; RCV000222209; RCV000163286;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	29550550	29550550	NM_001042492.2:c.1810T>C	NP_001035957.1:p.Leu604=	NC_000017.10:g.29550550T>C,NC_000017.10:g.29550550T>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.1845+537_4661+331del	4763	NF1	Pathogenic	-1	RCV000200921;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29551122	29589206	NM_000267.3:c.1845+537_4661+331del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1846-496_2410-645delinsTAGC	4763	NF1	Pathogenic	-1	RCV000200874;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29551617	29555398	NM_000267.3:c.1846-496_2410-645delinsTAGC			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1885G>A (p.Gly629Arg)	4763	NF1	Pathogenic	199474738	RCV000206280; RCV000059160; RCV000130191;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29552152	29552152	NM_001042492.2:c.1885G>A	NP_001035957.1:p.Gly629Arg	NC_000017.10:g.29552152G>A	UniProtKB (variants):VAR_002653	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_000267.3(NF1):c.1888G>A (p.Val630Ile)	4763	NF1	Uncertain significance	751795238	RCV000206181;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29552155	29552155	NM_000267.3:c.1888G>A	NP_000258.1:p.Val630Ile	NC_000017.10:g.29552155G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1933A>G (p.Met645Val)	4763	NF1	Benign;Likely benign	146051850	RCV000206514; RCV000121627; RCV000130724;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29552200	29552200	NM_001042492.2:c.1933A>G	NP_001035957.1:p.Met645Val	NC_000017.10:g.29552200A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.1975C>T (p.Arg659Trp)	4763	NF1	Uncertain significance	757512142	RCV000205526; RCV000163436;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29552242	29552242	NM_001042492.2:c.1975C>T	NP_001035957.1:p.Arg659Trp	NC_000017.10:g.29552242C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.1987G>A (p.Gly663Arg)	4763	NF1	Uncertain significance	140653372	RCV000206471; RCV000163499;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29552254	29552254	NM_001042492.2:c.1987G>A	NP_001035957.1:p.Gly663Arg	NC_000017.10:g.29552254G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1988_2410-218delinsTGTC	4763	NF1	Pathogenic	-1	RCV000200903;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29552255	29555825	NM_000267.3:c.1988_2410-218delinsTGTC			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe)	4763	NF1	Benign;Likely benign	145891889	RCV000200171; RCV000121628; RCV000129662;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29552261	29552261	NM_000267.3:c.1994C>T	NP_000258.1:p.Ser665Phe	NC_000017.10:g.29552261C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.1999A>G (p.Met667Val)	4763	NF1	Uncertain significance	749833271	RCV000197513; RCV000166077;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29552266	29552266	NM_001042492.2:c.1999A>G	NP_001035957.1:p.Met667Val	NC_000017.10:g.29552266A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2002-9G>T	4763	NF1	Likely benign	376197466	RCV000205756;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553444	29553444	NM_000267.3:c.2002-9G>T		NC_000017.10:g.29553444G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.2022C>T (p.Ser674=)	4763	NF1	Benign	2230851	RCV000206675; RCV000218285; RCV000130488;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29553473	29553473	NM_001042492.2:c.2022C>T	NP_001035957.1:p.Ser674=	NC_000017.10:g.29553473C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.2032C>A (p.Pro678Thr)	4763	NF1	Uncertain significance	758691069	RCV000200062; RCV000166265;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553483	29553483	NM_001042492.2:c.2032C>A	NP_001035957.1:p.Pro678Thr	NC_000017.10:g.29553483C>A,NC_000017.10:g.29553483C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu)	4763	NF1	Benign;Uncertain significance	17881753	RCV000200179; RCV000034581; RCV000121631; RCV000130295;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374; MedGen:CN221809	17	29553484	29553484	NM_000267.3:c.2033C>T	NP_000258.1:p.Pro678Leu	NC_000017.10:g.29553484C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided; CN169374 not specified
NM_001042492.2(NF1):c.2033dupC (p.Ile679Aspfs)	4763	NF1	Pathogenic	587781807	RCV000204850; RCV000130078;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553484	29553484	NM_001042492.2:c.2033dupC	NP_001035957.1:p.Ile679Aspfs	NC_000017.10:g.29553484dupC	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter)	4763	NF1	Pathogenic	768638173	RCV000168265;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553492	29553492	NM_000267.3:c.2041C>T	NP_000258.1:p.Arg681Ter	NC_000017.10:g.29553492C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.2042G>A (p.Arg681Gln)	4763	NF1	Uncertain significance	786201768	RCV000205161; RCV000164229;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553493	29553493	NM_001042492.2:c.2042G>A	NP_001035957.1:p.Arg681Gln	NC_000017.10:g.29553493G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2061A>G (p.Leu687=)	4763	NF1	Likely benign	143671377	RCV000196968; RCV000223002;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29553512	29553512	NM_000267.3:c.2061A>G	NP_000258.1:p.Leu687=	NC_000017.10:g.29553512A>G	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.2126G>A (p.Cys709Tyr)	4763	NF1	Uncertain significance	864622547	RCV000206238;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553577	29553577	NM_000267.3:c.2126G>A	NP_000258.1:p.Cys709Tyr	NC_000017.10:g.29553577G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.2133C>T (p.Arg711=)	4763	NF1	Likely benign	148085908	RCV000199177; RCV000163626;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553584	29553584	NM_001042492.2:c.2133C>T	NP_001035957.1:p.Arg711=	NC_000017.10:g.29553584C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2232C>G (p.Val744=)	4763	NF1	Likely benign	748865537	RCV000206776;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553683	29553683	NM_000267.3:c.2232C>G	NP_000258.1:p.Val744=	NC_000017.10:g.29553683C>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2251+2T>G	4763	NF1	Likely pathogenic	864622142	RCV000204317;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29553704	29553704	NM_000267.3:c.2251+2T>G		NC_000017.10:g.29553704T>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2252-70_2326-39dup	4763	NF1	Pathogenic	-1	RCV000200899;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29554166	29554502	NM_000267.3:c.2252-70_2326-39dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2252-34T>C	4763	NF1	Benign	200937398	RCV000198401;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29554202	29554202	NM_000267.3:c.2252-34T>C		NC_000017.10:g.29554202T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2252-31A>T	4763	NF1	Benign	141082540	RCV000196212;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29554205	29554205	NM_000267.3:c.2252-31A>T		NC_000017.10:g.29554205A>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2284C>T (p.Leu762=)	4763	NF1	Likely benign	370762336	RCV000205767; RCV000217735;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29554268	29554268	NM_000267.3:c.2284C>T	NP_000258.1:p.Leu762=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.2288T>C (p.Leu763Pro)	4763	NF1	Likely pathogenic;Pathogenic	199474762	RCV000220933; RCV000059164; RCV000165288;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29554272	29554272	NM_001042492.2:c.2288T>C	NP_001035957.1:p.Leu763Pro	NC_000017.10:g.29554272T>C,NC_000017.10:g.29554272T>G	UniProtKB (variants):VAR_021741	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg)	4763	NF1	Likely pathogenic;Uncertain significance	199474762	RCV000196515; RCV000222376;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29554272	29554272	NM_000267.3:c.2288T>G	NP_000258.1:p.Leu763Arg	NC_000017.10:g.29554272T>C,NC_000017.10:g.29554272T>G	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.2294G>A (p.Arg765His)	4763	NF1	Uncertain significance	199474777	RCV000197680; RCV000221393; RCV000059165;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	17	29554278	29554278	NM_000267.3:c.2294G>A	NP_000258.1:p.Arg765His	NC_000017.10:g.29554278G>A	UniProtKB (variants):VAR_021742	C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.2294_2300delGCATTGA (p.Glu767Profs)	4763	NF1	Pathogenic	786204154	RCV000168149;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29554278	29554284	NM_000267.3:c.2294_2300delGCATTGA	NP_000258.1:p.Glu767Profs	NC_000017.10:g.29554278_29554284delGCATTGA	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2297T>G (p.Ile766Ser)	4763	NF1	Uncertain significance	863224657	RCV000200108;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29554281	29554281	NM_000267.3:c.2297T>G	NP_000258.1:p.Ile766Ser	NC_000017.10:g.29554281T>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2342A>T (p.His781Leu)	4763	NF1	Uncertain significance	199474763	RCV000196521; RCV000215892;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29554557	29554557	NM_000267.3:c.2342A>T	NP_000258.1:p.His781Leu	NC_000017.10:g.29554557A>C,NC_000017.10:g.29554557A>T	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.2358A>G (p.Gln786=)	4763	NF1	Likely benign	762346437	RCV000200711;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29554573	29554573	NM_000267.3:c.2358A>G	NP_000258.1:p.Gln786=	NC_000017.10:g.29554573A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2410-110_2850+65delinsAAAA	4763	NF1	Pathogenic	-1	RCV000200936;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29555933	29556548	NM_000267.3:c.2410-110_2850+65delinsAAAA			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2447G>A (p.Arg816Gln)	4763	NF1	Uncertain significance	762709897	RCV000204295;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556080	29556080	NM_000267.3:c.2447G>A	NP_000258.1:p.Arg816Gln	NC_000017.10:g.29556080G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.2490C>T (p.Asp830=)	4763	NF1	Likely benign	786201629	RCV000205826; RCV000164000;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556123	29556123	NM_001042492.2:c.2490C>T	NP_001035957.1:p.Asp830=	NC_000017.10:g.29556123C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2514C>T (p.Ile838=)	4763	NF1	Likely benign	863224352	RCV000196763; RCV000217374;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29556147	29556147	NM_000267.3:c.2514C>T	NP_000258.1:p.Ile838=	NC_000017.10:g.29556147C>T	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.2531T>G (p.Leu844Arg)	4763	NF1	Pathogenic	137854566	RCV000000404;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556164	29556164	NM_000267.3:c.2531T>G	NP_000258.1:p.Leu844Arg	NC_000017.10:g.29556164T>C,NC_000017.10:g.29556164T>G	OMIM Allelic Variant:613113.0043	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro)	4763	NF1	Uncertain significance	199474747	RCV000205919; RCV000059175;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29556173	29556173	NM_001042492.2:c.2540T>C	NP_001035957.1:p.Leu847Pro	NC_000017.10:g.29556173T>C	UniProtKB (variants):VAR_021748	C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_000267.3(NF1):c.2541T>C (p.Leu847=)	4763	NF1	Likely benign	147433258	RCV000205310; RCV000220939;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29556174	29556174	NM_000267.3:c.2541T>C	NP_000258.1:p.Leu847=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.2547A>C (p.Gly849=)	4763	NF1	Likely benign	748303121	RCV000199138; RCV000163563;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556180	29556180	NM_001042492.2:c.2547A>C	NP_001035957.1:p.Gly849=	NC_000017.10:g.29556180A>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.2553C>T (p.Cys851=)	4763	NF1	Benign	2230852	RCV000199964; RCV000217841; RCV000130541;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29556186	29556186	NM_001042492.2:c.2553C>T	NP_001035957.1:p.Cys851=	NC_000017.10:g.29556186C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser)	4763	NF1	Uncertain significance	200302954	RCV000200298; RCV000222839; RCV000034582;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	17	29556218	29556218	NM_000267.3:c.2585C>G	NP_000258.1:p.Thr862Ser	NC_000017.10:g.29556218C>G	-	C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.2599A>G (p.Met867Val)	4763	NF1	Uncertain significance	864622715	RCV000204806;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556232	29556232	NM_000267.3:c.2599A>G	NP_000258.1:p.Met867Val	NC_000017.10:g.29556232A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2666C>G (p.Thr889Arg)	4763	NF1	Uncertain significance	369912079	RCV000205754;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556299	29556299	NM_000267.3:c.2666C>G	NP_000258.1:p.Thr889Arg	NC_000017.10:g.29556299C>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2690G>C (p.Arg897Pro)	4763	NF1	Uncertain significance	863224658	RCV000196746;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556323	29556323	NM_000267.3:c.2690G>C	NP_000258.1:p.Arg897Pro	NC_000017.10:g.29556323G>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2850G>C (p.Gln950His)	4763	NF1	Likely pathogenic	863224446	RCV000198059;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556483	29556483	NM_000267.3:c.2850G>C	NP_000258.1:p.Gln950His	NC_000017.10:g.29556483G>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2850+5A>G	4763	NF1	Uncertain significance	864622633	RCV000205149;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556488	29556488	NM_000267.3:c.2850+5A>G		NC_000017.10:g.29556488A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2851-151_2990+121dup	4763	NF1	Pathogenic	-1	RCV000200923;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29556702	29557113	NM_000267.3:c.2851-151_2990+121dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.2970_2972delAAT (p.Met992del)	4763	NF1	Pathogenic	267606606	RCV000196290; RCV000000393; RCV000000392; RCV000215737;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C0553586,OMIM:193520,SNOMED CT:403820003; MedGen:C2931482,OMIM:601321; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29556972	29556974	NM_000267.3:c.2970_2972delAAT	NP_000258.1:p.Met992del	NC_000017.10:g.29556972_29556974delAAT	OMIM Allelic Variant:613113.0033	C0553586 193520 Café-au-lait macules with pulmonary stenosis; C0027831 162200 Neurofibromatosis, type 1; C2931482 601321 Neurofibromatosis-Noonan syndrome; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.2985G>C (p.Leu995=)	4763	NF1	Benign	17881467	RCV000204155; RCV000222166; RCV000163174;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29556987	29556987	NM_001042492.2:c.2985G>C	NP_001035957.1:p.Leu995=	NC_000017.10:g.29556987G>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.3000T>C (p.Arg1000=)	4763	NF1	Likely benign	764332485	RCV000206703; RCV000222440;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29557287	29557287	NM_000267.3:c.3000T>C	NP_000258.1:p.Arg1000=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.3103A>G (p.Met1035Val)	4763	NF1	Uncertain significance	771694969	RCV000204972;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29557390	29557390	NM_000267.3:c.3103A>G	NP_000258.1:p.Met1035Val	NC_000017.10:g.29557390A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg)	4763	NF1	Pathogenic	137854553	RCV000000375;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29557391	29557391	NM_000267.3:c.3104T>G	NP_000258.1:p.Met1035Arg	NC_000017.10:g.29557391T>G	OMIM Allelic Variant:613113.0015	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3113+1G>A	4763	NF1	Pathogenic	267606599	RCV000000373;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29557401	29557401	NM_000267.3:c.3113+1G>A		NC_000017.10:g.29557401G>A,NC_000017.10:g.29557401G>T	OMIM Allelic Variant:613113.0013	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3113+1G>T	4763	NF1	Pathogenic	267606599	RCV000200386;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29557401	29557401	NM_000267.3:c.3113+1G>T		NC_000017.10:g.29557401G>A,NC_000017.10:g.29557401G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3138_3139delAG (p.Asp1047Leufs)	4763	NF1	Pathogenic	863224490	RCV000196483;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29557884	29557885	NM_000267.3:c.3138_3139delAG	NP_000258.1:p.Asp1047Leufs	NC_000017.10:g.29557884_29557885delAG	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3197+3dupA	4763	NF1	Benign	755212937	RCV000204301;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29557946	29557946	NM_000267.3:c.3197+3dupA		NC_000017.10:g.29557946dupA	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3198-5_3198-4delTT	4763	NF1	Benign	864622561	RCV000204434;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559086	29559087	NM_000267.3:c.3198-5_3198-4delTT		NC_000017.10:g.29559086_29559087delTT	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3198-4T>C	4763	NF1	Benign;Likely benign	587782218	RCV000196712; RCV000130902;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559087	29559087	NM_001042492.2:c.3198-4T>C		NC_000017.10:g.29559087T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3198-3dupC	4763	NF1	Benign	864622717	RCV000206153;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559088	29559088	NM_000267.3:c.3198-3dupC		NC_000017.10:g.29559088dupC	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3198A>G (p.Arg1066=)	4763	NF1	Uncertain significance	864622469	RCV000205976;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559091	29559091	NM_000267.3:c.3198A>G	NP_000258.1:p.Arg1066=	NC_000017.10:g.29559091A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3270A>C (p.Gly1090=)	4763	NF1	Benign;Likely benign	150015024	RCV000204634; RCV000163445;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559163	29559163	NM_001042492.2:c.3270A>C	NP_001035957.1:p.Gly1090=	NC_000017.10:g.29559163A>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3287T>C (p.Met1096Thr)	4763	NF1	Uncertain significance	863224659	RCV000198607;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559180	29559180	NM_000267.3:c.3287T>C	NP_000258.1:p.Met1096Thr	NC_000017.10:g.29559180T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3314+2T>A	4763	NF1	Likely pathogenic	863224445	RCV000195869;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559209	29559209	NM_000267.3:c.3314+2T>A		NC_000017.10:g.29559209T>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3417A>C (p.Ala1139=)	4763	NF1	Likely benign	864622524	RCV000206125;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559820	29559820	NM_000267.3:c.3417A>C	NP_000258.1:p.Ala1139=		-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3436G>A (p.Val1146Ile)	4763	NF1	Uncertain significance	201047812	RCV000200527; RCV000129967;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559839	29559839	NM_001042492.2:c.3436G>A	NP_001035957.1:p.Val1146Ile	NC_000017.10:g.29559839G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs)	4763	NF1	Pathogenic	786202594	RCV000168453; RCV000165479;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559860	29559863	NM_001042492.2:c.3457_3460delCTCA	NP_001035957.1:p.Leu1153Metfs	NC_000017.10:g.29559860_29559863delCTCA	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3468C>T (p.Asn1156=)	4763	NF1	Benign;Likely benign	147955381	RCV000200412; RCV000163604;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559871	29559871	NM_001042492.2:c.3468C>T	NP_001035957.1:p.Asn1156=	NC_000017.10:g.29559871C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3484A>G (p.Met1162Val)	4763	NF1	Uncertain significance	773968270	RCV000206616;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559887	29559887	NM_000267.3:c.3484A>G	NP_000258.1:p.Met1162Val	NC_000017.10:g.29559887A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3494T>A (p.Ile1165Lys)	4763	NF1	Pathogenic	786204211	RCV000168309;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559897	29559897	NM_000267.3:c.3494T>A	NP_000258.1:p.Ile1165Lys	NC_000017.10:g.29559897T>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3496+57_4772+2639dup	4763	NF1	Pathogenic	-1	RCV000200869;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29559956	29594996	NM_000267.3:c.3496+57_4772+2639dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3498C>T (p.Gly1166=)	4763	NF1	Benign	2066733	RCV000204550; RCV000214487; RCV000130838;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29560021	29560021	NM_001042492.2:c.3498C>T	NP_001035957.1:p.Gly1166=	NC_000017.10:g.29560021C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.3500T>G (p.Leu1167Ter)	4763	NF1	Pathogenic	786204253	RCV000168456;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29560023	29560023	NM_000267.3:c.3500T>G	NP_000258.1:p.Leu1167Ter	NC_000017.10:g.29560023T>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3590C>T (p.Ala1197Val)	4763	NF1	Uncertain significance	370820478	RCV000196926;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29560113	29560113	NM_000267.3:c.3590C>T	NP_000258.1:p.Ala1197Val	NC_000017.10:g.29560113C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3604G>T (p.Ala1202Ser)	4763	NF1	Uncertain significance	146641724	RCV000206873; RCV000130378;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29560127	29560127	NM_001042492.2:c.3604G>T	NP_001035957.1:p.Ala1202Ser	NC_000017.10:g.29560127G>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3636C>A (p.Val1212=)	4763	NF1	Likely benign;Uncertain significance	145126193	RCV000199351; RCV000163495;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29560159	29560159	NM_001042492.2:c.3636C>A	NP_001035957.1:p.Val1212=	NC_000017.10:g.29560159C>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3708+598_4772+16224del	4763	NF1	Pathogenic	-1	RCV000200909;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29560829	29608581	NM_000267.3:c.3708+598_4772+16224del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3709-941_3974+2711del	4763	NF1	Pathogenic	-1	RCV000200880;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29561688	29565750	NM_000267.3:c.3709-941_3974+2711del			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3721C>T (p.Arg1241Ter)	4763	NF1	Pathogenic	137854562	RCV000000390; RCV000129869;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562641	29562641	NM_001042492.2:c.3721C>T	NP_001035957.1:p.Arg1241Ter	NC_000017.10:g.29562641C>T	OMIM Allelic Variant:613113.0031	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3722G>A (p.Arg1241Gln)	4763	NF1	Uncertain significance	543387071	RCV000204384; RCV000166937;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562642	29562642	NM_001042492.2:c.3722G>A	NP_001035957.1:p.Arg1241Gln	NC_000017.10:g.29562642G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro)	4763	NF1	Pathogenic	137854564	RCV000000402;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562648	29562648	NM_000267.3:c.3728T>C	NP_000258.1:p.Leu1243Pro	NC_000017.10:g.29562648T>C	OMIM Allelic Variant:613113.0041	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3765A>G (p.Gln1255=)	4763	NF1	Likely benign;Uncertain significance	766896025	RCV000200538; RCV000163528;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562685	29562685	NM_001042492.2:c.3765A>G	NP_001035957.1:p.Gln1255=	NC_000017.10:g.29562685A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys)	4763	NF1	Uncertain significance	863224660	RCV000196980;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562710	29562710	NM_000267.3:c.3790G>A	NP_000258.1:p.Glu1264Lys	NC_000017.10:g.29562710G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro)	4763	NF1	Pathogenic	137854556	RCV000000381;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562747	29562747	NM_000267.3:c.3827G>C	NP_000258.1:p.Arg1276Pro	NC_000017.10:g.29562747G>A,NC_000017.10:g.29562747G>C	OMIM Allelic Variant:613113.0022	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3827G>A (p.Arg1276Gln)	4763	NF1	Pathogenic	137854556	RCV000213660; RCV000059193;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29562747	29562747	NM_001042492.2:c.3827G>A	NP_001035957.1:p.Arg1276Gln	NC_000017.10:g.29562747G>A,NC_000017.10:g.29562747G>C	UniProtKB (variants):VAR_017555	C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_001042492.2(NF1):c.3867C>T (p.Phe1289=)	4763	NF1	Benign;Likely benign	138186428	RCV000198661; RCV000163550;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562787	29562787	NM_001042492.2:c.3867C>T	NP_001035957.1:p.Phe1289=	NC_000017.10:g.29562787C>G,NC_000017.10:g.29562787C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3883A>G (p.Thr1295Ala)	4763	NF1	Uncertain significance	143836226	RCV000205468; RCV000165261;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29562948	29562948	NM_001042492.2:c.3883A>G	NP_001035957.1:p.Thr1295Ala	NC_000017.10:g.29562948A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3939T>C (p.Asp1313=)	4763	NF1	Likely benign	864622325	RCV000205492;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29563004	29563004	NM_000267.3:c.3939T>C	NP_000258.1:p.Asp1313=	NC_000017.10:g.29563004T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.3970A>G (p.Thr1324Ala)	4763	NF1	Uncertain significance	189522993	RCV000206332; RCV000167072;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29563035	29563035	NM_001042492.2:c.3970A>G	NP_001035957.1:p.Thr1324Ala	NC_000017.10:g.29563035A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3974G>C (p.Arg1325Thr)	4763	NF1	Likely pathogenic	863224447	RCV000199605;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29563039	29563039	NM_000267.3:c.3974G>C	NP_000258.1:p.Arg1325Thr	NC_000017.10:g.29563039G>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3975-1922_4111-2448delinsTTTACTTAGGT	4763	NF1	Pathogenic	-1	RCV000200913;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29574080	29582914	NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3975-2A>G	4763	NF1	Pathogenic	864622431	RCV000205081;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576000	29576000	NM_000267.3:c.3975-2A>G		NC_000017.10:g.29576000A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.3990G>A (p.Glu1330=)	4763	NF1	Likely benign	863224353	RCV000195898;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576017	29576017	NM_000267.3:c.3990G>A	NP_000258.1:p.Glu1330=	NC_000017.10:g.29576017G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.4009C>T (p.Arg1337Trp)	4763	NF1	Uncertain significance	146306756	RCV000198849; RCV000130170;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576036	29576036	NM_001042492.2:c.4009C>T	NP_001035957.1:p.Arg1337Trp	NC_000017.10:g.29576036C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4012A>C (p.Asn1338His)	4763	NF1	Uncertain significance	864622202	RCV000204829;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576039	29576039	NM_000267.3:c.4012A>C	NP_000258.1:p.Asn1338His	NC_000017.10:g.29576039A>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4017_4019delCCT (p.Leu1340del)	4763	NF1	Uncertain significance	863224834	RCV000198153;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576044	29576046	NM_000267.3:c.4017_4019delCCT	NP_000258.1:p.Leu1340del	NC_000017.10:g.29576044_29576046delCCT	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4020T>C (p.Leu1340=)	4763	NF1	Likely benign	863224354	RCV000198107; RCV000213306;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29576047	29576047	NM_000267.3:c.4020T>C	NP_000258.1:p.Leu1340=	NC_000017.10:g.29576047T>C	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter)	4763	NF1	Pathogenic	137854559	RCV000000385;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576048	29576048	NM_000267.3:c.4021C>T	NP_000258.1:p.Gln1341Ter	NC_000017.10:g.29576048C>T	OMIM Allelic Variant:613113.0026	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter)	4763	NF1	Pathogenic	137854560	RCV000000372;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576111	29576111	NM_000267.3:c.4084C>T	NP_000258.1:p.Arg1362Ter	NC_000017.10:g.29576111C>T	OMIM Allelic Variant:613113.0027	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4085G>A (p.Arg1362Gln)	4763	NF1	Uncertain significance	540108477	RCV000205985;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29576112	29576112	NM_000267.3:c.4085G>A	NP_000258.1:p.Arg1362Gln	NC_000017.10:g.29576112G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4110+1798del	4763	NF1	Pathogenic	863224944	RCV000200907;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29577935	29577935	NM_000267.3:c.4110+1798del		NC_000017.10:g.29577935delA	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4111-8_4111-6delGTT	4763	NF1	Benign	751729752	RCV000203818;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585354	29585356	NM_000267.3:c.4111-8_4111-6delGTT		NC_000017.10:g.29585354_29585356delGTT	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4122G>T (p.Gln1374His)	4763	NF1	Uncertain significance	775206746	RCV000195985;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585373	29585373	NM_000267.3:c.4122G>T	NP_000258.1:p.Gln1374His	NC_000017.10:g.29585373G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4124G>A (p.Arg1375His)	4763	NF1	Uncertain significance	368685980	RCV000204501;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585375	29585375	NM_000267.3:c.4124G>A	NP_000258.1:p.Arg1375His	NC_000017.10:g.29585375G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4130C>T (p.Pro1377Leu)	4763	NF1	Uncertain significance	864622299	RCV000203828;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585381	29585381	NM_000267.3:c.4130C>T	NP_000258.1:p.Pro1377Leu	NC_000017.10:g.29585381C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4143C>T (p.Ile1381=)	4763	NF1	Likely benign	864622406	RCV000205879; RCV000214997;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29585394	29585394	NM_000267.3:c.4143C>T	NP_000258.1:p.Ile1381=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.4207G>A (p.Gly1403Ser)	4763	NF1	Uncertain significance	138227618	RCV000197840; RCV000130328;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585395	29585395	NM_001042492.2:c.4207G>A	NP_001035957.1:p.Gly1403Ser	NC_000017.10:g.29585395G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.4230C>T (p.Phe1410=)	4763	NF1	Likely benign	750213850	RCV000206488; RCV000165599;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585418	29585418	NM_001042492.2:c.4230C>T	NP_001035957.1:p.Phe1410=	NC_000017.10:g.29585418C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe)	4763	NF1	Likely pathogenic;Pathogenic	199474789	RCV000195735; RCV000023983; RCV000059194;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C2931482,OMIM:601321; MedGen:CN221809	17	29585419	29585419	NM_000267.3:c.4168C>T	NP_000258.1:p.Leu1390Phe	NC_000017.10:g.29585419C>T	OMIM Allelic Variant:613113.0045,UniProtKB (variants):VAR_065236	C0027831 162200 Neurofibromatosis, type 1; C2931482 601321 Neurofibromatosis-Noonan syndrome; CN221809 not provided
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser)	4763	NF1	Pathogenic	137854554	RCV000000376;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585424	29585424	NM_000267.3:c.4173A>T	NP_000258.1:p.Arg1391Ser	NC_000017.10:g.29585424A>T	OMIM Allelic Variant:613113.0016	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.4263G>A (p.Pro1421=)	4763	NF1	Likely benign	201648604	RCV000198948; RCV000164618;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585451	29585451	NM_001042492.2:c.4263G>A	NP_001035957.1:p.Pro1421=	NC_000017.10:g.29585451G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.4269A>G (p.Glu1423=)	4763	NF1	Benign;Likely benign	17886566	RCV000196969; RCV000163442;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585457	29585457	NM_001042492.2:c.4269A>G	NP_001035957.1:p.Glu1423=	NC_000017.10:g.29585457A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4233A>C (p.Pro1411=)	4763	NF1	Likely benign	864622492	RCV000205044;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585484	29585484	NM_000267.3:c.4233A>C	NP_000258.1:p.Pro1411=	NC_000017.10:g.29585484A>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu)	4763	NF1	Pathogenic	137854550	RCV000000364;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585518	29585518	NM_000267.3:c.4267A>G	NP_000258.1:p.Lys1423Glu	NC_000017.10:g.29585518A>G	OMIM Allelic Variant:613113.0005	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4269+2T>C	4763	NF1	Likely pathogenic	786204207	RCV000168300;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29585522	29585522	NM_000267.3:c.4269+2T>C		NC_000017.10:g.29585522T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4277A>G (p.Gln1426Arg)	4763	NF1	Likely pathogenic	786204157	RCV000168155;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29586057	29586057	NM_000267.3:c.4277A>G	NP_000258.1:p.Gln1426Arg	NC_000017.10:g.29586057A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4299C>T (p.Leu1433=)	4763	NF1	Likely benign	864622298	RCV000205956; RCV000217006; RCV000221952;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	29586079	29586079	NM_000267.3:c.4299C>T	NP_000258.1:p.Leu1433=		-	C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.4368-391_4515-122delins105	4763	NF1	Pathogenic	-1	RCV000200881;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29586996	29588607	NM_000267.3:c.4368-391_4515-122delins105			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4462C>T (p.Arg1488Cys)	4763	NF1	Uncertain significance	864622348	RCV000204133;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29587481	29587481	NM_000267.3:c.4462C>T	NP_000258.1:p.Arg1488Cys	NC_000017.10:g.29587481C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.4526G>A (p.Arg1509His)	4763	NF1	Uncertain significance	546073780	RCV000205307; RCV000129797;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29587482	29587482	NM_001042492.2:c.4526G>A	NP_001035957.1:p.Arg1509His	NC_000017.10:g.29587482G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4477A>G (p.Asn1493Asp)	4763	NF1	Uncertain significance	864622404	RCV000204499;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29587496	29587496	NM_000267.3:c.4477A>G	NP_000258.1:p.Asn1493Asp	NC_000017.10:g.29587496A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4483G>T (p.Glu1495Ter)	4763	NF1	Pathogenic	786203390	RCV000200251;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29587502	29587502	NM_000267.3:c.4483G>T	NP_000258.1:p.Glu1495Ter	NC_000017.10:g.29587502G>C,NC_000017.10:g.29587502G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter)	4763	NF1	Pathogenic	760703505	RCV000206013;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29588751	29588751	NM_000267.3:c.4537C>T	NP_000258.1:p.Arg1513Ter	NC_000017.10:g.29588751C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4619G>A (p.Ser1540Asn)	4763	NF1	Uncertain significance	751414513	RCV000199054;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29588833	29588833	NM_000267.3:c.4619G>A	NP_000258.1:p.Ser1540Asn	NC_000017.10:g.29588833G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4661+3A>G	4763	NF1	Uncertain significance	781147524	RCV000206007; RCV000215797;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29588878	29588878	NM_000267.3:c.4661+3A>G		NC_000017.10:g.29588878A>G	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.4661+7T>C	4763	NF1	Likely benign	864622178	RCV000205962;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29588882	29588882	NM_000267.3:c.4661+7T>C		NC_000017.10:g.29588882T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4662-1076_4772+1300delins260	4763	NF1	Pathogenic	-1	RCV000200910;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29591171	29593657	NM_000267.3:c.4662-1076_4772+1300delins260			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.4749A>G (p.Glu1583=)	4763	NF1	Likely benign	144091165	RCV000206001; RCV000163873;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29592271	29592271	NM_001042492.2:c.4749A>G	NP_001035957.1:p.Glu1583=	NC_000017.10:g.29592271A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met)	4763	NF1	Uncertain significance	185660700	RCV000195487; RCV000213390;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29592288	29592288	NM_000267.3:c.4703C>T	NP_000258.1:p.Thr1568Met	NC_000017.10:g.29592288C>T	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.4835+5G>C	4763	NF1	Uncertain significance	786201306	RCV000206743; RCV000163329;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29592362	29592362	NM_001042492.2:c.4835+5G>C		NC_000017.10:g.29592362G>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC	4763	NF1	Pathogenic	-1	RCV000200898;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29650722	29674321	NM_000267.3:c.4773-2116_7127-1817delinsAGTTACC			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4773-1597_7395-685dup	4763	NF1	Pathogenic	-1	RCV000200937;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29651241	29678590	NM_000267.3:c.4773-1597_7395-685dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.4851A>G (p.Gln1617=)	4763	NF1	Likely benign;Uncertain significance	150309802	RCV000197891; RCV000163757;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29652853	29652853	NM_001042492.2:c.4851A>G	NP_001035957.1:p.Gln1617=	NC_000017.10:g.29652853A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4797T>C (p.Gly1599=)	4763	NF1	Likely benign	864622747	RCV000203825; RCV000216323;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29652862	29652862	NM_000267.3:c.4797T>C	NP_000258.1:p.Gly1599=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.4914C>G (p.Leu1638=)	4763	NF1	Likely benign	863224355	RCV000197904;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29652979	29652979	NM_000267.3:c.4914C>G	NP_000258.1:p.Leu1638=	NC_000017.10:g.29652979C>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4941_7127-2901del	4763	NF1	Pathogenic	-1	RCV000200928;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653006	29673237	NM_000267.3:c.4941_7127-2901del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val)	4763	NF1	Benign;Uncertain significance	147327414	RCV000168431; RCV000034584; RCV000121634; RCV000129642;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374; MedGen:CN221809	17	29653037	29653037	NM_000267.3:c.4972A>G	NP_000258.1:p.Ile1658Val	NC_000017.10:g.29653037A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided; CN169374 not specified
NM_001042492.2(NF1):c.5049C>T (p.Asn1683=)	4763	NF1	Likely benign	140994965	RCV000200119; RCV000164013;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653051	29653051	NM_001042492.2:c.5049C>T	NP_001035957.1:p.Asn1683=	NC_000017.10:g.29653051C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5009A>G (p.Lys1670Arg)	4763	NF1	Uncertain significance	863224661	RCV000199761;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653074	29653074	NM_000267.3:c.5009A>G	NP_000258.1:p.Lys1670Arg	NC_000017.10:g.29653074A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5106A>G (p.Gln1702=)	4763	NF1	Likely benign	864622372	RCV000205114;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653171	29653171	NM_000267.3:c.5106A>G	NP_000258.1:p.Gln1702=		-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5162A>G (p.Asn1721Ser)	4763	NF1	Uncertain significance	745407845	RCV000206576;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653227	29653227	NM_000267.3:c.5162A>G	NP_000258.1:p.Asn1721Ser	NC_000017.10:g.29653227A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5235G>A (p.Lys1745=)	4763	NF1	Benign	17887014	RCV000206463; RCV000218424; RCV000163276;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29653237	29653237	NM_001042492.2:c.5235G>A	NP_001035957.1:p.Lys1745=	NC_000017.10:g.29653237G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.5192A>G (p.Lys1731Arg)	4763	NF1	Uncertain significance	864622373	RCV000206031;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653257	29653257	NM_000267.3:c.5192A>G	NP_000258.1:p.Lys1731Arg	NC_000017.10:g.29653257A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5257G>A (p.Val1753Ile)	4763	NF1	Uncertain significance	148540952	RCV000205990; RCV000130179;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653259	29653259	NM_001042492.2:c.5257G>A	NP_001035957.1:p.Val1753Ile	NC_000017.10:g.29653259G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5205+5G>A	4763	NF1	Pathogenic	864622551	RCV000206046;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29653275	29653275	NM_000267.3:c.5205+5G>A		NC_000017.10:g.29653275G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5206-9A>G	4763	NF1	Likely benign	544515671	RCV000195509;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654508	29654508	NM_000267.3:c.5206-9A>G		NC_000017.10:g.29654508A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5305C>T (p.Arg1769Ter)	4763	NF1	Pathogenic	-1	RCV000220916;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654553	29654553	NM_001042492.2:c.5305C>T	NP_001035957.1:p.Arg1769Ter		-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5259G>A (p.Gly1753=)	4763	NF1	Likely benign	201584313	RCV000203734;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654570	29654570	NM_000267.3:c.5259G>A	NP_000258.1:p.Gly1753=		-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5373C>T (p.Phe1791=)	4763	NF1	Likely benign	864622640	RCV000206116; RCV000213737;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29654684	29654684	NM_000267.3:c.5373C>T	NP_000258.1:p.Phe1791=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.5406dupT (p.Ile1803Tyrfs)	4763	NF1	Pathogenic	267606605	RCV000000391;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654717	29654717	NM_000267.3:c.5406dupT	NP_000258.1:p.Ile1803Tyrfs	NC_000017.10:g.29654717dupT	OMIM Allelic Variant:613113.0032	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5425C>A (p.Arg1809Ser)	4763	NF1	Pathogenic	797045139	RCV000190892;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654736	29654736	NM_000267.3:c.5425C>A	NP_000258.1:p.Arg1809Ser	NC_000017.10:g.29654736C>A,NC_000017.10:g.29654736C>G,NC_000017.10:g.29654736C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly)	4763	NF1	Pathogenic	797045139	RCV000190893;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654736	29654736	NM_000267.3:c.5425C>G	NP_000258.1:p.Arg1809Gly	NC_000017.10:g.29654736C>A,NC_000017.10:g.29654736C>G,NC_000017.10:g.29654736C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys)	4763	NF1	Pathogenic	797045139	RCV000190889;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654736	29654736	NM_000267.3:c.5425C>T	NP_000258.1:p.Arg1809Cys	NC_000017.10:g.29654736C>A,NC_000017.10:g.29654736C>G,NC_000017.10:g.29654736C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5426G>C (p.Arg1809Pro)	4763	NF1	Pathogenic	771529172	RCV000190891;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654737	29654737	NM_000267.3:c.5426G>C	NP_000258.1:p.Arg1809Pro	NC_000017.10:g.29654737G>C,NC_000017.10:g.29654737G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu)	4763	NF1	Pathogenic	771529172	RCV000190890;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654737	29654737	NM_000267.3:c.5426G>T	NP_000258.1:p.Arg1809Leu	NC_000017.10:g.29654737G>C,NC_000017.10:g.29654737G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5434C>T (p.Leu1812=)	4763	NF1	Likely benign	372932380	RCV000204859;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654745	29654745	NM_000267.3:c.5434C>T	NP_000258.1:p.Leu1812=	NC_000017.10:g.29654745C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5448dupC (p.Ser1817Leufs)	4763	NF1	Pathogenic	267606596	RCV000000365;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654759	29654759	NM_000267.3:c.5448dupC	NP_000258.1:p.Ser1817Leufs	NC_000017.10:g.29654759dupC	OMIM Allelic Variant:613113.0006	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5513C>G (p.Ser1838Cys)	4763	NF1	Uncertain significance	368654378	RCV000168027; RCV000132225;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654761	29654761	NM_001042492.2:c.5513C>G	NP_001035957.1:p.Ser1838Cys	NC_000017.10:g.29654761C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter)	4763	NF1	Pathogenic	786203570	RCV000206167;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654769	29654769	NM_000267.3:c.5458C>T	NP_000258.1:p.Gln1820Ter		-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5465_5466insT (p.Lys1823Glnfs)	4763	NF1	Pathogenic	267606597	RCV000000366;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654776	29654777	NM_000267.3:c.5465_5466insT	NP_000258.1:p.Lys1823Glnfs	NC_000017.10:g.29654776_29654777insT	OMIM Allelic Variant:613113.0007	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5508C>T (p.Ile1836=)	4763	NF1	Likely benign	771837192	RCV000200089;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29654819	29654819	NM_000267.3:c.5508C>T	NP_000258.1:p.Ile1836=	NC_000017.10:g.29654819C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5546+336_5943+244del	4763	NF1	Pathogenic	-1	RCV000200901;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29655193	29662293	NM_000267.3:c.5546+336_5943+244del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5599A>T (p.Ile1867Phe)	4763	NF1	Uncertain significance	863224662	RCV000196231;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657366	29657366	NM_000267.3:c.5599A>T	NP_000258.1:p.Ile1867Phe	NC_000017.10:g.29657366A>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser)	4763	NF1	Uncertain significance	864622647	RCV000205781;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657415	29657415	NM_000267.3:c.5648A>G	NP_000258.1:p.Asn1883Ser	NC_000017.10:g.29657415A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5753A>G (p.Asn1918Ser)	4763	NF1	Uncertain significance	534249104	RCV000206068; RCV000166441;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657457	29657457	NM_001042492.2:c.5753A>G	NP_001035957.1:p.Asn1918Ser	NC_000017.10:g.29657457A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5757G>A (p.Glu1919=)	4763	NF1	Likely benign	141077224	RCV000196161; RCV000163376;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657461	29657461	NM_001042492.2:c.5757G>A	NP_001035957.1:p.Glu1919=	NC_000017.10:g.29657461G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5710G>T (p.Glu1904Ter)	4763	NF1	Pathogenic	137854565	RCV000000403;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657477	29657477	NM_000267.3:c.5710G>T	NP_000258.1:p.Glu1904Ter	NC_000017.10:g.29657477G>T	OMIM Allelic Variant:613113.0042	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5749+6_6858+633delins130	4763	NF1	Pathogenic	-1	RCV000200931;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657522	29666456	NM_000267.3:c.5749+6_6858+633delins130			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5749+8A>G	4763	NF1	Likely benign	372075322	RCV000198355;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657524	29657524	NM_000267.3:c.5749+8A>G		NC_000017.10:g.29657524A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5749+189_6999+1035del	4763	NF1	Pathogenic	-1	RCV000200887;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657705	29668698	NM_000267.3:c.5749+189_6999+1035del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5749+332A>G	4763	NF1	Pathogenic	863224491	RCV000197021;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29657848	29657848	NM_000267.3:c.5749+332A>G		NC_000017.10:g.29657848A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5749+750_5943+244del	4763	NF1	Pathogenic	-1	RCV000200904;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29658266	29662293	NM_000267.3:c.5749+750_5943+244del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5750-1748_6184delinsCTA	4763	NF1	Pathogenic	-1	RCV000200902;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29660108	29663752	NM_000267.3:c.5750-1748_6184delinsCTA			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5750-1086_5943+244del	4763	NF1	Pathogenic	-1	RCV000200933;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29660770	29662293	NM_000267.3:c.5750-1086_5943+244del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5750-460_5943+244del	4763	NF1	Pathogenic	-1	RCV000200875;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661396	29662293	NM_000267.3:c.5750-460_5943+244del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5750-374_5944-176del	4763	NF1	Pathogenic	-1	RCV000200884;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661482	29663175	NM_000267.3:c.5750-374_5944-176del			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5858T>C (p.Leu1953Pro)	4763	NF1	Pathogenic	199474792	RCV000000362; RCV000059211;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29661901	29661901	NM_001042492.2:c.5858T>C	NP_001035957.1:p.Leu1953Pro	NC_000017.10:g.29661901T>C	OMIM Allelic Variant:613113.0003,UniProtKB (variants):VAR_002663	C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_000267.3(NF1):c.5802T>C (p.Asn1934=)	4763	NF1	Likely benign	863224356	RCV000199875;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661908	29661908	NM_000267.3:c.5802T>C	NP_000258.1:p.Asn1934=	NC_000017.10:g.29661908T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter)	4763	NF1	Pathogenic	137854552	RCV000000371;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661945	29661945	NM_000267.3:c.5839C>T	NP_000258.1:p.Arg1947Ter	NC_000017.10:g.29661945C>T	OMIM Allelic Variant:613113.0012	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5844_5845delAA (p.Arg1949Serfs)	4763	NF1	Pathogenic	863224835	RCV000200729;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661950	29661951	NM_000267.3:c.5844_5845delAA	NP_000258.1:p.Arg1949Serfs	NC_000017.10:g.29661950_29661951delAA	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5845A>T (p.Arg1949Ter)	4763	NF1	Pathogenic	267606595	RCV000000363;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661951	29661951	NM_000267.3:c.5845A>T	NP_000258.1:p.Arg1949Ter	NC_000017.10:g.29661951A>T	OMIM Allelic Variant:613113.0004	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5847A>G (p.Arg1949=)	4763	NF1	Likely benign	777021090	RCV000196630;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661953	29661953	NM_000267.3:c.5847A>G	NP_000258.1:p.Arg1949=	NC_000017.10:g.29661953A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5925T>C (p.Leu1975=)	4763	NF1	Likely benign	375776474	RCV000198148; RCV000165337;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29661968	29661968	NM_001042492.2:c.5925T>C	NP_001035957.1:p.Leu1975=	NC_000017.10:g.29661968T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.5961G>A (p.Gln1987=)	4763	NF1	Likely benign	757536610	RCV000204553; RCV000167025;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29662004	29662004	NM_001042492.2:c.5961G>A	NP_001035957.1:p.Gln1987=	NC_000017.10:g.29662004G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5943+265_7000-999delins15	4763	NF1	Pathogenic	-1	RCV000200916;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29662314	29669028	NM_000267.3:c.5943+265_7000-999delins15			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5943+448_7127-414del	4763	NF1	Pathogenic	-1	RCV000200935;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29662497	29675724	NM_000267.3:c.5943+448_7127-414del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.5944-5A>G	4763	NF1	Pathogenic	267606604	RCV000000387; RCV000000388;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C1834235,OMIM:162210	17	29663346	29663346	NM_000267.3:c.5944-5A>G		NC_000017.10:g.29663346A>G	OMIM Allelic Variant:613113.0029	C1834235 162210 Neurofibromatosis, familial spinal; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6084+8C>G	4763	NF1	Benign	182709912	RCV000195559; RCV000215739;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29663499	29663499	NM_000267.3:c.6084+8C>G		NC_000017.10:g.29663499C>G	-	C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.6172A>G (p.Ile2058Val)	4763	NF1	Uncertain significance	201712827	RCV000205125; RCV000121636; RCV000130497;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29663677	29663677	NM_001042492.2:c.6172A>G	NP_001035957.1:p.Ile2058Val	NC_000017.10:g.29663677A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.6315C>T (p.His2105=)	4763	NF1	Likely benign	145732909	RCV000200361; RCV000166583;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29663820	29663820	NM_001042492.2:c.6315C>T	NP_001035957.1:p.His2105=	NC_000017.10:g.29663820C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6310C>G (p.Leu2104Val)	4763	NF1	Uncertain significance	786204236	RCV000168394;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29663878	29663878	NM_000267.3:c.6310C>G	NP_000258.1:p.Leu2104Val	NC_000017.10:g.29663878C>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.6375G>A (p.Leu2125=)	4763	NF1	Likely benign	773467465	RCV000206577; RCV000222814; RCV000164074;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29663880	29663880	NM_001042492.2:c.6375G>A	NP_001035957.1:p.Leu2125=	NC_000017.10:g.29663880G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.6393C>T (p.His2131=)	4763	NF1	Benign	17881788	RCV000203810; RCV000163437;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29663898	29663898	NM_001042492.2:c.6393C>T	NP_001035957.1:p.His2131=	NC_000017.10:g.29663898C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6364+8C>T	4763	NF1	Likely benign	864622598	RCV000205805;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29663940	29663940	NM_000267.3:c.6364+8C>T		NC_000017.10:g.29663940C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6427C>A (p.Leu2143Met)	4763	NF1	Pathogenic	137854551	RCV000000367;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29664448	29664448	NM_000267.3:c.6427C>A	NP_000258.1:p.Leu2143Met	NC_000017.10:g.29664448C>A	OMIM Allelic Variant:613113.0008	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.6558A>C (p.Ser2186=)	4763	NF1	Likely benign	753509749	RCV000205407; RCV000163978;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29664516	29664516	NM_001042492.2:c.6558A>C	NP_001035957.1:p.Ser2186=	NC_000017.10:g.29664516A>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6511T>A (p.Tyr2171Asn)	4763	NF1	Pathogenic	267606598	RCV000000368;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29664532	29664532	NM_000267.3:c.6511T>A	NP_000258.1:p.Tyr2171Asn	NC_000017.10:g.29664532T>A	OMIM Allelic Variant:613113.0009	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.6628T>C (p.Leu2210=)	4763	NF1	Likely benign	138265293	RCV000204172; RCV000163408;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29664586	29664586	NM_001042492.2:c.6628T>C	NP_001035957.1:p.Leu2210=	NC_000017.10:g.29664586T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6574A>G (p.Met2192Val)	4763	NF1	Uncertain significance	864622330	RCV000206546; RCV000214452;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29664595	29664595	NM_000267.3:c.6574A>G	NP_000258.1:p.Met2192Val		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.6664A>G (p.Thr2222Ala)	4763	NF1	Uncertain significance	745945481	RCV000205816; RCV000165324;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29664858	29664858	NM_001042492.2:c.6664A>G	NP_001035957.1:p.Thr2222Ala	NC_000017.10:g.29664858A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6753C>T (p.Ser2251=)	4763	NF1	Uncertain significance	864622360	RCV000203970;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29665154	29665154	NM_000267.3:c.6753C>T	NP_000258.1:p.Ser2251=	NC_000017.10:g.29665154C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6789_6792delTTAC (p.Tyr2264Thrfs)	4763	NF1	Pathogenic	863224836	RCV000196480;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29665754	29665757	NM_000267.3:c.6789_6792delTTAC	NP_000258.1:p.Tyr2264Thrfs	NC_000017.10:g.29665754_29665757delTTAC	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6791dupA (p.Tyr2264Terfs)	4763	NF1	Pathogenic	-1	RCV000213933;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29665756	29665756	NM_000267.3:c.6791dupA	NP_000258.1:p.Tyr2264Terfs		-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.6855C>A (p.Tyr2285Ter)	4763	NF1	Pathogenic	772295894	RCV000199249; RCV000164442;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29665757	29665757	NM_001042492.2:c.6855C>A	NP_001035957.1:p.Tyr2285Ter	NC_000017.10:g.29665757C>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6807G>T (p.Leu2269=)	4763	NF1	Likely benign	773658814	RCV000197273;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29665772	29665772	NM_000267.3:c.6807G>T	NP_000258.1:p.Leu2269=	NC_000017.10:g.29665772G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6858+10G>A	4763	NF1	Likely benign;Uncertain significance	767166725	RCV000198810; RCV000221143;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29665833	29665833	NM_000267.3:c.6858+10G>A		NC_000017.10:g.29665833G>A	-	C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.6859-2A>G	4763	NF1	Likely pathogenic	864622509	RCV000205966;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29667521	29667521	NM_000267.3:c.6859-2A>G		NC_000017.10:g.29667521A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu)	4763	NF1	Uncertain significance	148736217	RCV000168053; RCV000034587; RCV000214790; RCV000129366;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374; MedGen:CN221809	17	29667530	29667530	NM_000267.3:c.6866C>T	NP_000258.1:p.Pro2289Leu	NC_000017.10:g.29667530C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided; CN169374 not specified
NM_000267.3(NF1):c.6889G>T (p.Val2297Leu)	4763	NF1	Uncertain significance	760528229	RCV000199968;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29667553	29667553	NM_000267.3:c.6889G>T	NP_000258.1:p.Val2297Leu	NC_000017.10:g.29667553G>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6963G>T (p.Leu2321=)	4763	NF1	Likely benign	371581213	RCV000203866;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29667627	29667627	NM_000267.3:c.6963G>T	NP_000258.1:p.Leu2321=		-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6983G>A (p.Arg2328His)	4763	NF1	Uncertain significance	864622065	RCV000206636; RCV000218254;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29667647	29667647	NM_000267.3:c.6983G>A	NP_000258.1:p.Arg2328His		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.6992A>G (p.Asn2331Ser)	4763	NF1	Uncertain significance	763082717	RCV000206473;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29667656	29667656	NM_000267.3:c.6992A>G	NP_000258.1:p.Asn2331Ser	NC_000017.10:g.29667656A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6999+1G>A	4763	NF1	Pathogenic	863224492	RCV000200806;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29667664	29667664	NM_000267.3:c.6999+1G>A		NC_000017.10:g.29667664G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.6999+8A>G	4763	NF1	Likely benign	864622468	RCV000206558;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29667671	29667671	NM_000267.3:c.6999+8A>G		NC_000017.10:g.29667671A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7000-499_7908-479del	4763	NF1	Pathogenic	-1	RCV000200879;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29669528	29685019	NM_000267.3:c.7000-499_7908-479del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7000-7_7000-6delTTinsC	4763	NF1	Likely benign	864622725	RCV000204594;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29670020	29670021	NM_000267.3:c.7000-7_7000-6delTTinsC		NC_000017.10:g.29670020_29670021delTTinsC	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7096_7101delAACTTT (p.Asn2366_Phe2367del)	4763	NF1	Pathogenic	864622639	RCV000206539;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29670123	29670128	NM_000267.3:c.7096_7101delAACTTT	NP_000258.1:p.Asn2366_Phe2367del	NC_000017.10:g.29670123_29670128delAACTTT	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7213A>G (p.Ile2405Val)	4763	NF1	Uncertain significance	565708398	RCV000196434; RCV000165705;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29676161	29676161	NM_001042492.2:c.7213A>G	NP_001035957.1:p.Ile2405Val	NC_000017.10:g.29676161A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7199A>G (p.Asn2400Ser)	4763	NF1	Uncertain significance	774339063	RCV000206406; RCV000217240;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29676210	29676210	NM_000267.3:c.7199A>G	NP_000258.1:p.Asn2400Ser		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.7258+383_7862del	4763	NF1	Pathogenic	-1	RCV000200919;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29676652	29684342	NM_000267.3:c.7258+383_7862del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7259-17C>T	4763	NF1	Benign	17884859	RCV000204072;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29677184	29677184	NM_000267.3:c.7259-17C>T		NC_000017.10:g.29677184C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys)	4763	NF1	Uncertain significance	377662483	RCV000203720;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29677233	29677233	NM_000267.3:c.7291C>T	NP_000258.1:p.Arg2431Cys	NC_000017.10:g.29677233C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7368A>G (p.Lys2456=)	4763	NF1	Benign;Likely benign	201287021	RCV000197072; RCV000216616; RCV000163484;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29677247	29677247	NM_001042492.2:c.7368A>G	NP_001035957.1:p.Lys2456=	NC_000017.10:g.29677247A>G,NC_000017.10:g.29677247A>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.7307A>G (p.His2436Arg)	4763	NF1	Uncertain significance	863224664	RCV000198278;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29677249	29677249	NM_000267.3:c.7307A>G	NP_000258.1:p.His2436Arg	NC_000017.10:g.29677249A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val)	4763	NF1	Uncertain significance	748027595	RCV000200710;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29677275	29677275	NM_000267.3:c.7333A>G	NP_000258.1:p.Ile2445Val	NC_000017.10:g.29677275A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7410T>C (p.Asn2470=)	4763	NF1	Benign;Likely benign	17881903	RCV000205235; RCV000163438;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29677289	29677289	NM_001042492.2:c.7410T>C	NP_001035957.1:p.Asn2470=	NC_000017.10:g.29677289T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7363T>C (p.Tyr2455His)	4763	NF1	Uncertain significance	864622745	RCV000204170;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29677305	29677305	NM_000267.3:c.7363T>C	NP_000258.1:p.Tyr2455His	NC_000017.10:g.29677305T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7369A>G (p.Ile2457Val)	4763	NF1	Uncertain significance	759307070	RCV000196442;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29677311	29677311	NM_000267.3:c.7369A>G	NP_000258.1:p.Ile2457Val	NC_000017.10:g.29677311A>G	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7395-600_7552+735del	4763	NF1	Pathogenic	-1	RCV000200948;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29678675	29680167	NM_000267.3:c.7395-600_7552+735del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7403A>G (p.Lys2468Arg)	4763	NF1	Uncertain significance	864622249	RCV000206241; RCV000223637;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29679283	29679283	NM_000267.3:c.7403A>G	NP_000258.1:p.Lys2468Arg		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.7416A>G (p.Pro2472=)	4763	NF1	Likely benign	144957306	RCV000205791; RCV000219959;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29679296	29679296	NM_000267.3:c.7416A>G	NP_000258.1:p.Pro2472=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter)	4763	NF1	Pathogenic	863224493	RCV000196878;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29679299	29679299	NM_000267.3:c.7419G>A	NP_000258.1:p.Trp2473Ter	NC_000017.10:g.29679299G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7487C>G (p.Ser2496Cys)	4763	NF1	Uncertain significance	371773406	RCV000198334; RCV000166659;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29679304	29679304	NM_001042492.2:c.7487C>G	NP_001035957.1:p.Ser2496Cys	NC_000017.10:g.29679304C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu)	4763	NF1	Benign;Likely benign	2230850	RCV000199322; RCV000121639; RCV000130554;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29679348	29679348	NM_000267.3:c.7468G>C	NP_000258.1:p.Val2490Leu	NC_000017.10:g.29679348G>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.7584A>G (p.Gln2528=)	4763	NF1	Benign;Likely benign	55865524	RCV000196075; RCV000222469; RCV000163326;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29679401	29679401	NM_001042492.2:c.7584A>G	NP_001035957.1:p.Gln2528=	NC_000017.10:g.29679401A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val)	4763	NF1	Likely benign;Uncertain significance	148154172	RCV000199269; RCV000034590; RCV000130730;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29679412	29679412	NM_000267.3:c.7532C>T	NP_000258.1:p.Ala2511Val	NC_000017.10:g.29679412C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_000267.3(NF1):c.7533C>T (p.Ala2511=)	4763	NF1	Likely benign	864622517	RCV000206523;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29679413	29679413	NM_000267.3:c.7533C>T	NP_000258.1:p.Ala2511=	NC_000017.10:g.29679413C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7580T>G (p.Ile2527Arg)	4763	NF1	Uncertain significance	864622266	RCV000206618; RCV000215851;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29683505	29683505	NM_000267.3:c.7580T>G	NP_000258.1:p.Ile2527Arg		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.7742C>G (p.Thr2581Ser)	4763	NF1	Uncertain significance	757632129	RCV000205551; RCV000165823;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29683981	29683981	NM_001042492.2:c.7742C>G	NP_001035957.1:p.Thr2581Ser	NC_000017.10:g.29683981C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7755C>T (p.Ser2585=)	4763	NF1	Benign	17881980	RCV000205128; RCV000222530; RCV000163372;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29683994	29683994	NM_001042492.2:c.7755C>T	NP_001035957.1:p.Ser2585=	NC_000017.10:g.29683994C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.7726T>C (p.Ser2576Pro)	4763	NF1	Uncertain significance	864622364	RCV000204686;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684028	29684028	NM_000267.3:c.7726T>C	NP_000258.1:p.Ser2576Pro	NC_000017.10:g.29684028T>C	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7734dupT (p.Glu2579Terfs)	4763	NF1	Pathogenic	863224837	RCV000198354;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684036	29684036	NM_000267.3:c.7734dupT	NP_000258.1:p.Glu2579Terfs	NC_000017.10:g.29684036dupT	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7841A>G (p.Lys2614Arg)	4763	NF1	Uncertain significance	587781502	RCV000168146; RCV000129477;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684080	29684080	NM_001042492.2:c.7841A>G	NP_001035957.1:p.Lys2614Arg	NC_000017.10:g.29684080A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7806+6G>A	4763	NF1	Uncertain significance	864622318	RCV000204323;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684114	29684114	NM_000267.3:c.7806+6G>A		NC_000017.10:g.29684114G>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7807-8C>A	4763	NF1	Uncertain significance	372441422	RCV000206850;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684279	29684279	NM_000267.3:c.7807-8C>A		NC_000017.10:g.29684279C>A	-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter)	4763	NF1	Likely pathogenic;Pathogenic	786201367	RCV000196216; RCV000163482;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684326	29684326	NM_001042492.2:c.7909C>T	NP_001035957.1:p.Arg2637Ter	NC_000017.10:g.29684326C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7884_8315-5528del	4763	NF1	Pathogenic	-1	RCV000200912;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684364	29695503	NM_000267.3:c.7884_8315-5528del			-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.7907+149_8097+723dup	4763	NF1	Pathogenic	-1	RCV000200872;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29684536	29686756	NM_000267.3:c.7907+149_8097+723dup			-	C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.7998C>T (p.Asn2666=)	4763	NF1	Likely benign	747307832	RCV000196019; RCV000163887;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29685525	29685525	NM_001042492.2:c.7998C>T	NP_001035957.1:p.Asn2666=	NC_000017.10:g.29685525C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.8041A>G (p.Ile2681Val)	4763	NF1	Uncertain significance	146315101	RCV000200203; RCV000130596;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29685568	29685568	NM_001042492.2:c.8041A>G	NP_001035957.1:p.Ile2681Val	NC_000017.10:g.29685568A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe)	4763	NF1	Uncertain significance	201824349	RCV000204801; RCV000034591; RCV000130727;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN221809	17	29685632	29685632	NM_000267.3:c.8042A>T	NP_000258.1:p.Tyr2681Phe	NC_000017.10:g.29685632A>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN221809 not provided
NM_000267.3(NF1):c.8051-70A>T	4763	NF1	Likely benign	192112633	RCV000196854;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29685917	29685917	NM_000267.3:c.8051-70A>T		NC_000017.10:g.29685917A>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.8076G>A (p.Arg2692=)	4763	NF1	Likely benign;Uncertain significance	139527415	RCV000197337; RCV000220540;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29686012	29686012	NM_000267.3:c.8076G>A	NP_000258.1:p.Arg2692=	NC_000017.10:g.29686012G>A	-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.8151G>A (p.Pro2717=)	4763	NF1	Benign	2285895	RCV000206206; RCV000216274; RCV000129364;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29686024	29686024	NM_001042492.2:c.8151G>A	NP_001035957.1:p.Pro2717=	NC_000017.10:g.29686024G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_000267.3(NF1):c.8159C>T (p.Thr2720Met)	4763	NF1	Uncertain significance	144178015	RCV000199205;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29687566	29687566	NM_000267.3:c.8159C>T	NP_000258.1:p.Thr2720Met	NC_000017.10:g.29687566C>T	-	C0027831 162200 Neurofibromatosis, type 1
NM_000267.3(NF1):c.8233C>T (p.Leu2745=)	4763	NF1	Likely benign	749647961	RCV000205859; RCV000213741;	N	MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	29687640	29687640	NM_000267.3:c.8233C>T	NP_000258.1:p.Leu2745=		-	C0027831 162200 Neurofibromatosis, type 1; C3280492 614327 Tumor predisposition syndrome
NM_001042492.2(NF1):c.8451C>T (p.Ser2817=)	4763	NF1	Likely benign	547090599	RCV000205230; RCV000163790;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29701104	29701104	NM_001042492.2:c.8451C>T	NP_001035957.1:p.Ser2817=	NC_000017.10:g.29701104C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1
NM_001042492.2(NF1):c.8499T>C (p.Asn2833=)	4763	NF1	Benign;Likely benign	142636150	RCV000197549; RCV000216289; RCV000163804;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003; MedGen:CN169374	17	29701152	29701152	NM_001042492.2:c.8499T>C	NP_001035957.1:p.Asn2833=	NC_000017.10:g.29701152T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1; CN169374 not specified
NM_001042492.2(NF1):c.*4T>C	4763	NF1	Benign;Uncertain significance	201044568	RCV000196409; RCV000163803;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0027831,OMIM:162200,ORPHA:636,SNOMED CT:92824003	17	29701177	29701177	NM_001042492.2:c.*4T>C		NC_000017.10:g.29701177T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0027831 162200 Neurofibromatosis, type 1