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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Nervous System Malformations (D009421)
Parent Node: Polyneuropathies (D011115)
..Starting node ..Hereditary Sensory and Autonomic Neuropathies (D009477)
Child Nodes:
........CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
........Cervical hypertrichosis neuropathy (C537956)
........Dysautonomia, Familial (D004402) 1
........Hamanishi Ueba Tsuji syndrome (C535624)
........Hereditary Sensory and Autonomic Neuropathy Type Ie (C580162)
........Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
........Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (C564296)
........NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
........NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
........NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
........Neuropathy, Hereditary Sensory And Autonomic, Type IIB (C567738)
........NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
........NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
........NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
........NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
........NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
........NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
........NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
........Neuropathy, Hereditary Sensory, X-Linked (C564090)
Sister Nodes:
..46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..Alcoholic Neuropathy (D020269)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164 C:3
..Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic atrophy polyneuropathy deafness (C537129)
..Paraneoplastic Polyneuropathy (D020364)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..POEMS Syndrome (D016878)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Polyradiculoneuropathy (D011129) 18
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Severe infantile axonal neuropathy (C537593)
..Tangier Disease (D013631)
..THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

5588

Name:

Hereditary Sensory and Autonomic Neuropathies

Definition:

A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)

Alternative IDs:

ParentIDs:

MESH:D009421|MESH:D011115|MESH:D020271

TreeNumbers:

C10.500.250 |C10.574.500.493 |C10.668.829.800.175 |C16.131.666.310 |C16.320.400.415

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D009477
MeSH: D009477
OMIM: 608654;
MSeqDR :
Genes: NGF; NTRK1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001226	Acral ulceration and osteomyelitis leading to autoamputation of digits
3	HP:0001862	Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
4	HP:0003593	Infantile onset
5	HP:0000970	Anhidrosis	HP:0040283
6	HP:0001954	Episodic fever	HP:0040283
7	HP:0001256	Intellectual disability, mild	HP:0040283
8	HP:0007021	Pain insensitivity
9	HP:0002661	Painless fractures due to injury
10	HP:0000742	Self-mutilation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002506.3(NGF):c.*120T>G	4803	NGF	Uncertain significance	rs886045114	RCV000354557;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828571	115828571	NC_000001.10:g.115828571A>C	ClinGen:CA10607378	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NC_000001.10:g.(?_115828681)_(115829426_?)dup	4803	NGF	Uncertain significance	-1	RCV001319453;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828681	115829426	-1	-
NC_000001.10:g.(?_115828691)_(115829416_?)dup	4803	NGF	Uncertain significance	-1	RCV003107707;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828691	115829416		-
NM_002506.3(NGF):c.706A>C (p.Lys236Gln)	4803	NGF	Uncertain significance	rs561107153	RCV000541314;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828711	115828711	NC_000001.10:g.115828711T>G	ClinGen:CA1022927	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.687T>C (p.Cys229=)	4803	NGF	Uncertain significance	rs750539380	RCV000399968;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828730	115828730	NC_000001.10:g.115828730A>G	ClinGen:CA1022932	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.680_682delinsA (p.Thr227fs)	4803	NGF	Pathogenic	-1	RCV000022672;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828735	115828737	115828735	OMIM:162030.0002
NM_002506.3(NGF):c.681G>A (p.Thr227_Ala228=)	4803	NGF	Likely benign	-1	RCV002603664;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828736	115828736	NC_000001.10:g.115828736C>T	-
NM_002506.3(NGF):c.680C>A (p.Thr227Lys)	4803	NGF	Uncertain significance	rs1326012011	RCV000789667\|RCV001055668;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828737	115828737	1:g.115828737G>T	-
NM_002506.3(NGF):c.670C>T (p.Arg224Trp)	4803	NGF	Uncertain significance	rs1553234715	RCV000631362;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828747	115828747	1:g.115828747G>A	ClinGen:CA341836034	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.662G>T (p.Arg221Leu)	4803	NGF	Uncertain significance	rs1432643322	RCV001202277;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828755	115828755	1:g.115828755C>A	-
NM_002506.3(NGF):c.661C>T (p.Arg221Trp)	4803	NGF	Pathogenic	rs11466112	RCV000015089;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828756	115828756	1:g.115828756G>A	ClinGen:CA123732,UniProtKB:P01138#VAR_030659,OMIM:162030.0001	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.657C>T (p.Ala219=)	4803	NGF	Likely benign	-1	RCV002186396;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828760	115828760	115828760	-
NM_002506.3(NGF):c.645C>T (p.Gly215=)	4803	NGF	Likely benign	rs371529651	RCV000631361;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828772	115828772	1:g.115828772G>A	ClinGen:CA1022939	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.638T>C (p.Met213Thr)	4803	NGF	Uncertain significance	rs985498627	RCV000690491;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828779	115828779	NC_000001.10:g.115828779A>G	-	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.632T>C (p.Leu211Pro)	4803	NGF	Uncertain significance	rs1653491943	RCV001038641;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828785	115828785	1:g.115828785A>G	-
NM_002506.3(NGF):c.630G>A (p.Ala210_Leu211=)	4803	NGF	Likely benign	-1	RCV002653087;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828787	115828787	NC_000001.10:g.115828787C>T	-
NM_002506.3(NGF):c.609G>A (p.Thr203=)	4803	NGF	Likely benign	-1	RCV002084497;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828808	115828808	115828808	-
NM_002506.3(NGF):c.600T>C (p.Tyr200=)	4803	NGF	Likely benign	rs774626005	RCV000756441\|RCV001459957;	N	MedGen:CN517202\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828817	115828817	NC_000001.10:g.115828817A>G	-
NM_002506.3(NGF):c.575T>C (p.Ile192Thr)	4803	NGF	Uncertain significance	-1	RCV001947636;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828842	115828842	115828842	-
NM_002506.3(NGF):c.573C>T (p.Gly191=)	4803	NGF	Uncertain significance	-1	RCV001943655;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828844	115828844	115828844	-
NM_002506.3(NGF):c.572G>T (p.Gly191Val)	4803	NGF	Uncertain significance	-1	RCV001373059;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828845	115828845	115828845	-
NM_002506.3(NGF):c.562G>A (p.Gly188Arg)	4803	NGF	Uncertain significance	rs760753923	RCV000236895\|RCV000700443\|RCV002347930;	N	MedGen:CN517202\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115828855	115828855	NC_000001.10:g.115828855C>T	ClinGen:CA1022951	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.562G>C (p.Gly188Arg)	4803	NGF	Uncertain significance	rs760753923	RCV001034965;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828855	115828855	1:g.115828855C>G	-
NM_002506.3(NGF):c.561C>T (p.Ser187=)	4803	NGF	Likely benign	rs779744960	RCV000526575;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828856	115828856	NC_000001.10:g.115828856G>A	ClinGen:CA1022952	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.553G>A (p.Val185Ile)	4803	NGF	Conflicting interpretations of pathogenicity	-1	RCV002193518\|RCV002346538;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115828864	115828864	115828864	-
NM_002506.3(NGF):c.552C>T (p.Pro184=)	4803	NGF	Conflicting interpretations of pathogenicity	rs532714783	RCV001099075;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828865	115828865	1:g.115828865G>A	-
NM_002506.3(NGF):c.544C>T (p.Pro182Ser)	4803	NGF	Uncertain significance	-1	RCV002766493;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828873	115828873	NC_000001.10:g.115828873G>A	-
NM_002506.3(NGF):c.539G>A (p.Arg180Gln)	4803	NGF	Uncertain significance	rs758166016	RCV000699487\|RCV002343513;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115828878	115828878	NC_000001.10:g.115828878C>T	-	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.537C>T (p.Cys179=)	4803	NGF	Likely benign	rs1571069427	RCV000928189\|RCV001455180;	N	MedGen:CN517202\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828880	115828880	1:g.115828880G>A	-
NM_002506.3(NGF):c.530C>T (p.Thr177Ile)	4803	NGF	Uncertain significance	-1	RCV002027365;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828887	115828887	115828887	-
NM_002506.3(NGF):c.515A>G (p.Gln172Arg)	4803	NGF	Uncertain significance	rs1557933464	RCV000700395;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828902	115828902	1:g.115828902T>C	-	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.512A>G (p.Lys171Arg)	4803	NGF	Uncertain significance	-1	RCV001942353\|RCV002334761;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115828905	115828905	115828905	-
NM_002506.3(NGF):c.508T>C (p.Phe170Leu)	4803	NGF	Uncertain significance	rs139541754	RCV000795207;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828909	115828909	1:g.115828909A>G	-
NM_002506.3(NGF):c.491A>T (p.Asn164Ile)	4803	NGF	Uncertain significance	rs1653498654	RCV001067793;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828926	115828926	1:g.115828926T>A	-
NM_002506.3(NGF):c.487G>A (p.Val163Met)	4803	NGF	Uncertain significance	-1	RCV001908367;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828930	115828930	115828930	-
NM_002506.3(NGF):c.486G>A (p.Glu162=)	4803	NGF	Likely benign	rs1394210230	RCV000934825;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828931	115828931	1:g.115828931C>T	-
NM_002506.3(NGF):c.483A>G (p.Gly161=)	4803	NGF	Likely benign	rs748481624	RCV000537837;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828934	115828934	NC_000001.10:g.115828934T>C	ClinGen:CA1022964	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.480G>A (p.Leu160=)	4803	NGF	Likely benign	-1	RCV001482933;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828937	115828937	115828937	-
NM_002506.3(NGF):c.477G>A (p.Val159=)	4803	NGF	Uncertain significance	rs886045115	RCV000300728;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828940	115828940	NC_000001.10:g.115828940C>T	ClinGen:CA10607709	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.466G>A (p.Glu156Lys)	4803	NGF	Uncertain significance	rs369927492	RCV001220422;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828951	115828951	1:g.115828951C>T	-
NM_002506.3(NGF):c.456C>T (p.Ile152_Lys153=)	4803	NGF	Likely benign	-1	RCV002746400;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828961	115828961	NC_000001.10:g.115828961G>A	-
NM_002506.3(NGF):c.445G>T (p.Ala149Ser)	4803	NGF	Uncertain significance	-1	RCV001908435;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828972	115828972	115828972	-
NM_002506.3(NGF):c.445G>A (p.Ala149Thr)	4803	NGF	Uncertain significance	-1	RCV001971952;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828972	115828972	115828972	-
NM_002506.3(NGF):c.441C>T (p.Thr147=)	4803	NGF	Likely benign	-1	RCV002164261;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828976	115828976	115828976	-
NM_002506.3(NGF):c.439A>T (p.Thr147Ser)	4803	NGF	Uncertain significance	rs1571069577	RCV000794521;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828978	115828978	1:g.115828978T>A	-
NM_002506.3(NGF):c.428T>C (p.Val143Ala)	4803	NGF	Uncertain significance	-1	RCV003118753;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828989	115828989	NC_000001.10:g.115828989A>G	-
NM_002506.3(NGF):c.421G>C (p.Val141Leu)	4803	NGF	Uncertain significance	rs199511298	RCV000357900;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828996	115828996	NC_000001.10:g.115828996C>G	ClinGen:CA1022974	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.420C>T (p.Ser140=)	4803	NGF	Likely benign	-1	RCV001989599;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115828997	115828997	115828997	-
NM_002506.3(NGF):c.417C>T (p.Val139=)	4803	NGF	Likely benign	rs369555032	RCV000981880\|RCV001462283;	N	MedGen:CN517202\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829000	115829000	1:g.115829000G>A	-
NM_002506.3(NGF):c.412A>G (p.Ser138Gly)	4803	NGF	Uncertain significance	-1	RCV002006037;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829005	115829005	115829005	-
NM_002506.3(NGF):c.402G>A (p.Ser134=)	4803	NGF	Likely benign	rs565841831	RCV000876379;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829015	115829015	1:g.115829015C>T	-
NM_002506.3(NGF):c.399C>A (p.Phe133Leu)	4803	NGF	Uncertain significance	rs746897874	RCV000687757;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829018	115829018	NC_000001.10:g.115829018G>T	-	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.394G>A (p.Glu132Lys)	4803	NGF	Uncertain significance	-1	RCV001963739;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829023	115829023	115829023	-
NM_002506.3(NGF):c.393C>T (p.Gly131=)	4803	NGF	Likely benign	rs778162180	RCV000434201\|RCV000527399;	N	MedGen:CN169374\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829024	115829024	1:g.115829024G>A	ClinGen:CA1022983	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.389G>A (p.Arg130Lys)	4803	NGF	Uncertain significance	-1	RCV002001930;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829028	115829028	115829028	-
NM_002506.3(NGF):c.388A>G (p.Arg130Gly)	4803	NGF	Uncertain significance	rs1421686319	RCV001296799;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829029	115829029	115829029	-
NM_002506.3(NGF):c.381C>T (p.Ile127=)	4803	NGF	Likely benign	-1	RCV001505348;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829036	115829036	115829036	-
NM_002506.3(NGF):c.372C>G (p.Ser124=)	4803	NGF	Likely benign	rs1409051848	RCV000549147;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829045	115829045	NC_000001.10:g.115829045G>C	ClinGen:CA420185244	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.372C>T (p.Ser124=)	4803	NGF	Likely benign	rs1409051848	RCV000928444;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829045	115829045	1:g.115829045G>A	-
NM_002506.3(NGF):c.371C>T (p.Ser124Phe)	4803	NGF	Uncertain significance	rs1011323001	RCV000534061;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829046	115829046	NC_000001.10:g.115829046G>A	ClinGen:CA29767411	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.361C>T (p.Arg121Trp)	4803	NGF	Uncertain significance	-1	RCV001925260;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829056	115829056	115829056	-
NM_002506.3(NGF):c.354G>A (p.Arg118=)	4803	NGF	Likely benign	-1	RCV002220456;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829063	115829063	115829063	-
NM_002506.3(NGF):c.343A>G (p.Arg115Gly)	4803	NGF	Uncertain significance	-1	RCV002018311;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829074	115829074	115829074	-
NM_002506.3(NGF):c.340A>C (p.Asn114His)	4803	NGF	Uncertain significance	-1	RCV001998854;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829077	115829077	115829077	-
NM_002506.3(NGF):c.338T>C (p.Phe113Ser)	4803	NGF	Uncertain significance	-1	RCV003054394;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829079	115829079	NC_000001.10:g.115829079A>G	-
NM_002506.3(NGF):c.335C>G (p.Pro112Arg)	4803	NGF	Uncertain significance	rs147763877	RCV000265567\|RCV000494698;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN517202	1	115829082	115829082	NC_000001.10:g.115829082G>C	ClinGen:CA1022990	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.335C>A (p.Pro112His)	4803	NGF	Uncertain significance	rs147763877	RCV001052306;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829082	115829082	1:g.115829082G>T	-
NM_002506.3(NGF):c.318G>A (p.Glu106=)	4803	NGF	Likely benign	rs750030065	RCV000941485;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829099	115829099	1:g.115829099C>T	-
NM_002506.3(NGF):c.318G>C (p.Glu106Asp)	4803	NGF	Uncertain significance	rs750030065	RCV001036400;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829099	115829099	1:g.115829099C>G	-
NM_002506.3(NGF):c.316G>A (p.Glu106Lys)	4803	NGF	Uncertain significance	rs755580704	RCV001054534;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829101	115829101	1:g.115829101C>T	-
NM_002506.3(NGF):c.315C>T (p.Phe105=)	4803	NGF	Likely benign	rs779678303	RCV000977465;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829102	115829102	1:g.115829102G>A	-
NM_002506.3(NGF):c.284G>A (p.Arg95His)	4803	NGF	Likely benign	rs150136942	RCV000545363\|RCV001722274\|RCV002436056;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	1	115829133	115829133	1:g.115829133C>T	ClinGen:CA1023001	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.283C>A (p.Arg95Ser)	4803	NGF	Uncertain significance	rs771270154	RCV001099158;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829134	115829134	1:g.115829134G>T	-
NM_002506.3(NGF):c.283C>T (p.Arg95Cys)	4803	NGF	Uncertain significance	-1	RCV001993690\|RCV002441124;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829134	115829134	115829134	-
NM_002506.3(NGF):c.280C>A (p.Pro94Thr)	4803	NGF	Uncertain significance	-1	RCV001945918;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829137	115829137	115829137	-
NM_002506.3(NGF):c.276G>A (p.Gln92=)	4803	NGF	Benign	-1	RCV002189038;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829141	115829141	115829141	-
NM_002506.3(NGF):c.275A>G (p.Gln92Arg)	4803	NGF	Uncertain significance	-1	RCV001878308;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829142	115829142	115829142	-
NM_002506.3(NGF):c.264G>A (p.Leu88_Phe89=)	4803	NGF	Likely benign	-1	RCV002994662;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829153	115829153	NC_000001.10:g.115829153C>T	-
NM_002506.3(NGF):c.262C>T (p.Leu88_Phe89=)	4803	NGF	Likely benign	-1	RCV003075387;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829155	115829155	NC_000001.10:g.115829155G>A	-
NM_002506.3(NGF):c.257G>A (p.Arg86His)	4803	NGF	Uncertain significance	rs200629339	RCV000535152\|RCV002456052;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829160	115829160	NC_000001.10:g.115829160C>T	ClinGen:CA1023007	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.253C>T (p.Pro85Ser)	4803	NGF	Uncertain significance	-1	RCV002008038;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829164	115829164	115829164	-
NM_002506.3(NGF):c.248G>A (p.Arg83His)	4803	NGF	Uncertain significance	-1	RCV002590584;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829169	115829169	NC_000001.10:g.115829169C>T	-
NM_002506.3(NGF):c.247C>T (p.Arg83Cys)	4803	NGF	Uncertain significance	rs138175552	RCV000235572\|RCV000631359\|RCV002450719;	N	MedGen:CN517202\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829170	115829170	NC_000001.10:g.115829170G>A	ClinGen:CA1023013	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.246C>T (p.Leu82=)	4803	NGF	Likely benign	-1	RCV001424346;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829171	115829171	115829171	-
NM_002506.3(NGF):c.242G>A (p.Arg81Gln)	4803	NGF	Uncertain significance	-1	RCV002459873\|RCV003101807;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829175	115829175	115829175	-
NM_002506.3(NGF):c.241C>T (p.Arg81Ter)	4803	NGF	Pathogenic	-1	RCV002606031;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829176	115829176	NC_000001.10:g.115829176G>A	-
NM_002506.3(NGF):c.240G>C (p.Arg80_Arg81=)	4803	NGF	Likely benign	-1	RCV002852006;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829177	115829177	NC_000001.10:g.115829177C>G	-
NM_002506.3(NGF):c.239G>A (p.Arg80Gln)	4803	NGF	Benign/Likely benign	rs11466111	RCV000322937\|RCV001706427\|RCV001699337;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN517202\|MedGen:CN169374	1	115829178	115829178	1:g.115829178C>T	ClinGen:CA1023016,UniProtKB:P01138#VAR_025554	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.238C>T (p.Arg80Trp)	4803	NGF	Uncertain significance	rs778266438	RCV001043510;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829179	115829179	1:g.115829179G>A	-
NM_002506.3(NGF):c.224G>A (p.Arg75Lys)	4803	NGF	Uncertain significance	rs141486298	RCV001328962;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829193	115829193	115829193	-
NM_002506.3(NGF):c.222_223delinsAG (p.Arg75Gly)	4803	NGF	Uncertain significance	-1	RCV001977319;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829194	115829195	115829194	-
NM_002506.3(NGF):c.219C>T (p.Asp73=)	4803	NGF	Likely benign	-1	RCV002196652;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829198	115829198	115829198	-
NM_002506.3(NGF):c.216G>A (p.Val72=)	4803	NGF	Uncertain significance	rs1414433934	RCV001209786;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829201	115829201	1:g.115829201C>T	-
NM_002506.3(NGF):c.214G>A (p.Val72Met)	4803	NGF	Benign/Likely benign	rs11466110	RCV000546440\|RCV000603122;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN169374	1	115829203	115829203	NC_000001.10:g.115829203C>T	ClinGen:CA1023024	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.208A>G (p.Ile70Val)	4803	NGF	Uncertain significance	rs768794852	RCV001238906;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829209	115829209	1:g.115829209T>C	-
NM_002506.3(NGF):c.203G>A (p.Arg68His)	4803	NGF	Uncertain significance	-1	RCV002419909\|RCV003098577;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829214	115829214	115829214	-
NM_002506.3(NGF):c.202C>T (p.Arg68Cys)	4803	NGF	Uncertain significance	rs572066909	RCV000631363\|RCV002420680;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829215	115829215	1:g.115829215G>A	ClinGen:CA1023028	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.201C>A (p.Thr67=)	4803	NGF	Likely benign	-1	RCV001473956;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829216	115829216	115829216	-
NM_002506.3(NGF):c.196C>A (p.Gln66Lys)	4803	NGF	Uncertain significance	rs766082334	RCV000361135;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829221	115829221	NC_000001.10:g.115829221G>T	ClinGen:CA1023031	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.193G>A (p.Gly65Arg)	4803	NGF	Uncertain significance	rs776208737	RCV001244650;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829224	115829224	1:g.115829224C>T	-
NM_002506.3(NGF):c.191C>T (p.Ala64Val)	4803	NGF	Conflicting interpretations of pathogenicity	rs201087374	RCV000531393\|RCV000597730\|RCV002413447;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	1	115829226	115829226	NC_000001.10:g.115829226G>A	ClinGen:CA1023034	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.188T>C (p.Val63Ala)	4803	NGF	Uncertain significance	-1	RCV001936844;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829229	115829229	115829229	-
NM_002506.3(NGF):c.187G>A (p.Val63Met)	4803	NGF	Uncertain significance	rs750829893	RCV001324816;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829230	115829230	115829230	-
NM_002506.3(NGF):c.186C>T (p.Arg62=)	4803	NGF	Likely benign	rs780432648	RCV000797235;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829231	115829231	1:g.115829231G>A	-
NM_002506.3(NGF):c.185G>A (p.Arg62His)	4803	NGF	Uncertain significance	rs369266810	RCV000820016\|RCV002067402\|RCV002408972;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	1	115829232	115829232	1:g.115829232C>T	-
NM_002506.3(NGF):c.184C>A (p.Arg62Ser)	4803	NGF	Uncertain significance	rs755243469	RCV000794538;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829233	115829233	1:g.115829233G>T	-
NM_002506.3(NGF):c.184C>T (p.Arg62Cys)	4803	NGF	Uncertain significance	rs755243469	RCV001052027\|RCV002409434;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829233	115829233	1:g.115829233G>A	-
NM_002506.3(NGF):c.174G>A (p.Ala58=)	4803	NGF	Conflicting interpretations of pathogenicity	rs147326889	RCV000631364;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829243	115829243	NC_000001.10:g.115829243C>T	ClinGen:CA1023045	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.173C>T (p.Ala58Val)	4803	NGF	Benign/Likely benign	rs201861727	RCV000553133\|RCV002413446;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829244	115829244	1:g.115829244G>A	ClinGen:CA1023046	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.170C>T (p.Ala57Val)	4803	NGF	Conflicting interpretations of pathogenicity	rs770647680	RCV000547214\|RCV002404377;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829247	115829247	NC_000001.10:g.115829247G>A	ClinGen:CA1023048	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.165G>A (p.Pro55=)	4803	NGF	Conflicting interpretations of pathogenicity	rs149876217	RCV000631366;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829252	115829252	1:g.115829252C>T	ClinGen:CA1023051	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.165G>C (p.Pro55=)	4803	NGF	Likely benign	-1	RCV002201367;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829252	115829252	115829252	-
NM_002506.3(NGF):c.160G>A (p.Ala54Thr)	4803	NGF	Uncertain significance	rs200459956	RCV000793092;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829257	115829257	1:g.115829257C>T	-
NM_002506.3(NGF):c.159C>T (p.Ser53=)	4803	NGF	Likely benign	rs376241395	RCV000912567\|RCV001468856;	N	MedGen:CN517202\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829258	115829258	1:g.115829258G>A	-
NM_002506.3(NGF):c.154C>T (p.Arg52Cys)	4803	NGF	Uncertain significance	rs766912679	RCV000799142;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829263	115829263	1:g.115829263G>A	-
NM_002506.3(NGF):c.146G>A (p.Arg49His)	4803	NGF	Uncertain significance	rs781072056	RCV000798441\|RCV001824886\|RCV002388460;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|\|MeSH:D030342,MedGen:C0950123	1	115829271	115829271	1:g.115829271C>T	-
NM_002506.3(NGF):c.145C>T (p.Arg49Cys)	4803	NGF	Uncertain significance	rs146716262	RCV000819975;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829272	115829272	1:g.115829272G>A	-
NM_002506.3(NGF):c.145C>A (p.Arg49Ser)	4803	NGF	Uncertain significance	rs146716262	RCV001236878;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829272	115829272	1:g.115829272G>T	-
NM_002506.3(NGF):c.136A>G (p.Thr46Ala)	4803	NGF	Uncertain significance	-1	RCV001969057;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829281	115829281	115829281	-
NM_002506.3(NGF):c.133G>A (p.Asp45Asn)	4803	NGF	Uncertain significance	rs1553234811	RCV000532480\|RCV002384048;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829284	115829284	NC_000001.10:g.115829284C>T	ClinGen:CA341837166	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.124C>G (p.His42Asp)	4803	NGF	Uncertain significance	-1	RCV001971455;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829293	115829293	115829293	-
NM_002506.3(NGF):c.124C>T (p.His42Tyr)	4803	NGF	Uncertain significance	-1	RCV002051260;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829293	115829293	115829293	-
NM_002506.3(NGF):c.109T>C (p.Trp37Arg)	4803	NGF	Uncertain significance	rs770843971	RCV000811327;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829308	115829308	1:g.115829308A>G	-
NM_002506.3(NGF):c.104C>T (p.Ala35Val)	4803	NGF	Benign	rs6330	RCV000268865\|RCV001618498\|RCV001699424;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN517202\|MedGen:CN169374	1	115829313	115829313	NC_000001.10:g.115829313G>A	ClinGen:CA1023067,UniProtKB:P01138#VAR_013783	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.95T>C (p.Ile32Thr)	4803	NGF	Uncertain significance	-1	RCV002711068;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829322	115829322	NC_000001.10:g.115829322A>G	-
NM_002506.3(NGF):c.93C>G (p.Thr31=)	4803	NGF	Conflicting interpretations of pathogenicity	rs1014644520	RCV000631365;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829324	115829324	1:g.115829324G>C	ClinGen:CA29767767	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.83C>A (p.Ala28Glu)	4803	NGF	Uncertain significance	rs769465872	RCV000631360;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829334	115829334	1:g.115829334G>T	ClinGen:CA341837273	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.78C>T (p.Val26=)	4803	NGF	Benign/Likely benign	rs150188752	RCV000429051\|RCV000871232;	N	MedGen:CN169374\|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829339	115829339	1:g.115829339G>A	ClinGen:CA1023070	CN169374 not specified;
NM_002506.3(NGF):c.69G>A (p.Glu23=)	4803	NGF	Likely benign	-1	RCV001442191;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829348	115829348	115829348	-
NM_002506.3(NGF):c.54G>A (p.Ala18=)	4803	NGF	Benign	rs6325	RCV000326286\|RCV001618499;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN517202	1	115829363	115829363	NC_000001.10:g.115829363C>T	ClinGen:CA1023075	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.53C>T (p.Ala18Val)	4803	NGF	Uncertain significance	rs754287903	RCV000631358\|RCV002343203;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829364	115829364	1:g.115829364G>A	ClinGen:CA1023076	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.52G>T (p.Ala18Ser)	4803	NGF	Uncertain significance	rs1653523153	RCV001205524;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829365	115829365	1:g.115829365C>A	-
NM_002506.3(NGF):c.43G>A (p.Gly15Ser)	4803	NGF	Conflicting interpretations of pathogenicity	rs181255687	RCV001101152\|RCV002327385;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829374	115829374	1:g.115829374C>T	-
NM_002506.3(NGF):c.43G>C (p.Gly15Arg)	4803	NGF	Uncertain significance	-1	RCV001977277;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829374	115829374	115829374	-
NM_002506.3(NGF):c.38T>G (p.Leu13Arg)	4803	NGF	Uncertain significance	rs1571070221	RCV000802705;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829379	115829379	1:g.115829379A>C	-
NM_002506.3(NGF):c.35T>G (p.Phe12Cys)	4803	NGF	Uncertain significance	rs1553234832	RCV000560325;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829382	115829382	NC_000001.10:g.115829382A>C	ClinGen:CA341837375	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.32C>T (p.Ala11Val)	4803	NGF	Uncertain significance	-1	RCV002730936;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829385	115829385	NC_000001.10:g.115829385G>A	-
NM_002506.3(NGF):c.31G>A (p.Ala11Thr)	4803	NGF	Uncertain significance	rs965438646	RCV000804429\|RCV002442685;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MeSH:D030342,MedGen:C0950123	1	115829386	115829386	1:g.115829386C>T	-
NM_002506.3(NGF):c.18C>T (p.Tyr6=)	4803	NGF	Likely benign	-1	RCV001402000;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829399	115829399	115829399	-
NM_002506.3(NGF):c.4T>C (p.Ser2Pro)	4803	NGF	Uncertain significance	rs1553234838	RCV000631357;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829413	115829413	1:g.115829413A>G	ClinGen:CA341837445	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.-13+14G>A	4803	NGF	Conflicting interpretations of pathogenicity	rs553442923	RCV000383246\|RCV000430743;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752\|MedGen:CN169374	1	115836234	115836234	NC_000001.10:g.115836234C>T	ClinGen:CA10607528	C0020075 608654 Congenital sensory neuropathy with selective loss of small myelinated fibers;
NM_002506.3(NGF):c.321C>T (p.Val107=)	-1	NGF;NGF-AS1	Likely benign	-1	RCV001802624;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	1	115829096	115829096	115829096	-
NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp)	11280	SCN11A	Likely pathogenic	rs483352921	RCV000991311;	N	MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654, Orphanet:64752	3	38936436	38936436	3:g.38936436G>T	-

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