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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: Hereditary Sensory and Motor Neuropathy (D015417)
Parent Node: Peripheral Nervous System Diseases (D010523)
..Starting node ..Giant Axonal Neuropathy (D056768)
Child Nodes:
........Giant Axonal Neuropathy, Autosomal Dominant (C566444)
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)
..HAREL-YOON SYNDROME (OMIM:617183)
..Hypertrophic Neuropathy And Cataract (C565490)
..Inherited Peripheral Neuropathy (C548028)
..Isaacs Syndrome (D020386)
..Mononeuropathies (D020422) 15
..Navajo neurohepatopathy (C538344) 1 C:1 L: 00035;
..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 C:1
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
..Polyneuropathies (D011115) 200 C:3
..Radiculopathy (D011843)
..Sacral plexopathy (C537224)
..Small Fiber Neuropathy (D000071075)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Tarlov Cysts (D052958)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

5046

Name:

Giant Axonal Neuropathy

Definition:

Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).

Alternative IDs:

DO:DOID:0090068|OMIM:256850

ParentIDs:

MESH:D010523|MESH:D015417

TreeNumbers:

C10.500.300.490 |C10.574.500.495.490 |C10.668.829.325 |C10.668.829.800.300.490 |C16.131.666.300.490 |C16.320.400.375.490

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D056768
MeSH: D056768
OMIM: 256850;
MSeqDR :
Genes: GAN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0007256	Abnormal pyramidal signs
4	HP:0001317	Abnormality of the cerebellum
5	HP:0001155	Abnormality of the hand
6	HP:0002522	Areflexia of lower limbs
7	HP:0002212	Curly hair
8	HP:0003380	Decreased number of peripheral myelinated nerve fibers
9	HP:0003693	Distal amyotrophy
10	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal
11	HP:0002936	Distal sensory impairment
12	HP:0001260	Dysarthria NAMDC: Dysarthria
13	HP:0010628	Facial palsy
14	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
15	HP:0002600	Hyporeflexia of lower limbs
16	HP:0001249	Intellectual disability	HP:0040283
17	HP:0002062	Morphological abnormality of the pyramidal tract
18	HP:0007002	Motor axonal neuropathy
19	HP:0000639	Nystagmus
20	HP:0001761	Pes cavus
21	HP:0001763	Pes planus
22	HP:0003812	Phenotypic variability
23	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
24	HP:0002650	Scoliosis
25	HP:0003390	Sensory axonal neuropathy
26	HP:0003677	Slow progression
27	HP:0001258	Spastic paraplegia
28	HP:0003376	Steppage gait
29	HP:0001762	Talipes equinovarus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000016.9:g.(?_80623263)_(81411221_?)del	8139	GAN	Pathogenic	-1	RCV000708372;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	80623263	81411221		-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.-127C>T	8139	GAN	Uncertain significance	886052329	RCV000271377;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348592	81348592	NC_000016.9:g.81348592C>T	ClinGen:CA10638429	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.-126T>C	8139	GAN	Uncertain significance	886052330	RCV000321801;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348593	81348593	NC_000016.9:g.81348593T>C	ClinGen:CA10649018	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.-111G>A	8139	GAN	Uncertain significance	12929567	RCV000376362;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348608	81348608	NC_000016.9:g.81348608G>A	ClinGen:CA10638430	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.-75G>C	8139	GAN	Benign	117642837	RCV000267843\|RCV000833461;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81348644	81348644	NC_000016.9:g.81348644G>C	ClinGen:CA10638433	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.-74G>C	8139	GAN	Uncertain significance	886052331	RCV000323334;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348645	81348645	NC_000016.9:g.81348645G>C	ClinGen:CA10644316	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.-70C>T	8139	GAN	Uncertain significance	558816909	RCV000373298;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348649	81348649	NC_000016.9:g.81348649C>T	ClinGen:CA10648110	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.-15G>C	8139	GAN	Uncertain significance	755662335	RCV001118012;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348704	81348704	16:g.81348704G>C	-
NC_000016.9:g.(?_81348719)_(81411201_?)dup	8139	GAN	Uncertain significance	-1	RCV001956039;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348719	81411201	-1	-
NC_000016.9:g.(?_81348719)_(81396236_?)dup	8139	GAN	Uncertain significance	-1	RCV003109857;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348719	81396236		-
NC_000016.9:g.(?_81348719)_(81348905_?)dup	8139	GAN	Uncertain significance	-1	RCV003109858;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348719	81348905		-
NM_022041.4(GAN):c.4G>A (p.Ala2Thr)	8139	GAN	Uncertain significance	1206106380	RCV000815101;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348722	81348722	16:g.81348722G>A	-
NM_022041.4(GAN):c.6T>G (p.Ala2=)	8139	GAN	Likely benign	-1	RCV002786331;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348724	81348724		-
NM_022041.4(GAN):c.9G>A (p.Glu3=)	8139	GAN	Likely benign	1028262778	RCV001415689;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348727	81348727	81348727	-
NM_022041.4(GAN):c.10G>A (p.Gly4Ser)	8139	GAN	Uncertain significance	1908984034	RCV001871038;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348728	81348728	81348728	-
NM_022041.4(GAN):c.14G>A (p.Ser5Asn)	8139	GAN	Uncertain significance	768368918	RCV001231147;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348732	81348732	16:g.81348732G>A	-
NM_022041.4(GAN):c.14G>C (p.Ser5Thr)	8139	GAN	Uncertain significance	768368918	RCV001341229;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348732	81348732	81348732	-
NM_022041.4(GAN):c.17C>T (p.Ala6Val)	8139	GAN	Uncertain significance	773384073	RCV000544024;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348735	81348735	16:g.81348735C>T	ClinGen:CA8191231	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.20_57del (p.Val7fs)	8139	GAN	Uncertain significance	1316993088	RCV000789633;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348736	81348773	16:g.81348736_81348773del	-
NM_022041.4(GAN):c.18_19insA (p.Val7fs)	8139	GAN	Conflicting interpretations of pathogenicity	1597385624	RCV000789761;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348736	81348737	16:g.81348736_81348737insA	OMIM:605379.0003
NM_022041.4(GAN):c.23C>G (p.Ser8Cys)	8139	GAN	Uncertain significance	587781251	RCV000144875\|RCV001245067;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348741	81348741	NC_000016.9:g.81348741C>G	ClinGen:CA270938	C0007959 Charcot-Marie-Tooth disease;
NM_022041.4(GAN):c.25G>T (p.Asp9Tyr)	8139	GAN	Uncertain significance	1908985101	RCV001889078;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348743	81348743	81348743	-
NM_022041.4(GAN):c.27C>T (p.Asp9=)	8139	GAN	Likely benign	777103014	RCV002163714;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348745	81348745	81348745	-
NM_022041.4(GAN):c.28C>T (p.Pro10Ser)	8139	GAN	Uncertain significance	-1	RCV002617881;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348746	81348746	NC_000016.9:g.81348746C>T	-
NM_022041.4(GAN):c.29C>G (p.Pro10Arg)	8139	GAN	Uncertain significance	1597385631	RCV000799164;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348747	81348747	16:g.81348747C>G	-
NM_022041.4(GAN):c.37G>A (p.Ala13Thr)	8139	GAN	Uncertain significance	-1	RCV003051628;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348755	81348755	NC_000016.9:g.81348755G>A	-
NM_022041.4(GAN):c.43C>A (p.Arg15Ser)	8139	GAN	Conflicting interpretations of pathogenicity	119485093	RCV000005339;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348761	81348761	16:g.81348761C>A	ClinGen:CA253402,UniProtKB:Q9H2C0#VAR_010759,OMIM:605379.0007	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.46C>T (p.Leu16=)	8139	GAN	Benign/Likely benign	77470936	RCV000278851\|RCV001712108\|RCV002328833;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	81348764	81348764	16:g.81348764C>T	ClinGen:CA8191239	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.47_48delinsAC (p.Leu16His)	8139	GAN	Uncertain significance	2150663586	RCV001926096;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348765	81348766	81348765	-
NM_022041.4(GAN):c.53G>A (p.Arg18Gln)	8139	GAN	Uncertain significance	-1	RCV002790724\|RCV003375694;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81348771	81348771	NC_000016.9:g.81348771G>A	-
NM_022041.4(GAN):c.56C>A (p.Ala19Glu)	8139	GAN	Uncertain significance	886052332	RCV000338610;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348774	81348774	NC_000016.9:g.81348774C>A	ClinGen:CA10644317	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.57G>T (p.Ala19=)	8139	GAN	Likely benign	767263153	RCV002071685;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348775	81348775	81348775	-
NM_022041.4(GAN):c.60C>G (p.Leu20=)	8139	GAN	Likely benign	-1	RCV002601054;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348778	81348778		-
NM_022041.4(GAN):c.62G>C (p.Ser21Thr)	8139	GAN	Uncertain significance	1242438215	RCV001364676;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348780	81348780	81348780	-
NM_022041.4(GAN):c.63C>T (p.Ser21=)	8139	GAN	Likely benign	756187093	RCV001486657;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348781	81348781	81348781	-
NM_022041.4(GAN):c.65_66delinsTA (p.Ser22Leu)	8139	GAN	Uncertain significance	2150663602	RCV001999313;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348783	81348784	81348783	-
NM_022041.4(GAN):c.72C>G (p.Arg24=)	8139	GAN	Likely benign	369086429	RCV000875530;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348790	81348790	16:g.81348790C>G	-
NM_022041.4(GAN):c.75G>A (p.Glu25=)	8139	GAN	Conflicting interpretations of pathogenicity	754548795	RCV000374300\|RCV002392868;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81348793	81348793	NC_000016.9:g.81348793G>A	ClinGen:CA8191246	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.80C>G (p.Ser27Cys)	8139	GAN	Uncertain significance	778653431	RCV001970980;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348798	81348798	81348798	-
NM_022041.4(GAN):c.82C>G (p.Arg28Gly)	8139	GAN	Uncertain significance	747806896	RCV000821170;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348800	81348800	16:g.81348800C>G	-
NM_022041.4(GAN):c.95C>T (p.Ala32Val)	8139	GAN	Uncertain significance	2150663622	RCV001867420;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348813	81348813	81348813	-
NM_022041.4(GAN):c.98A>C (p.His33Pro)	8139	GAN	Uncertain significance	1597385674	RCV000789137;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348816	81348816	16:g.81348816A>C	-
NM_022041.4(GAN):c.108C>T (p.Leu36=)	8139	GAN	Likely benign	1480718608	RCV001402424;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348826	81348826	81348826	-
NM_022041.4(GAN):c.112G>A (p.Gly38Arg)	8139	GAN	Uncertain significance	1252273429	RCV000641256;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348830	81348830	16:g.81348830G>A	ClinGen:CA396854879	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.130C>T (p.Gln44Ter)	8139	GAN	Uncertain significance	1597385694	RCV000789132;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348848	81348848	16:g.81348848C>T	-
NM_022041.4(GAN):c.132G>A (p.Gln44=)	8139	GAN	Conflicting interpretations of pathogenicity	774609110	RCV000294110\|RCV002379196;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81348850	81348850	NC_000016.9:g.81348850G>A	ClinGen:CA8191256	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.141C>T (p.Ile47=)	8139	GAN	Likely benign	-1	RCV002795493;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348859	81348859		-
NM_022041.4(GAN):c.142C>T (p.Leu48=)	8139	GAN	Likely benign	-1	RCV003084694;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348860	81348860		-
NM_022041.4(GAN):c.145G>A (p.Ala49Thr)	8139	GAN	Uncertain significance	1597385703	RCV000789630;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348863	81348863	16:g.81348863G>A	-
NM_022041.4(GAN):c.146C>A (p.Ala49Glu)	8139	GAN	Uncertain significance	1597385706	RCV000789131;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348864	81348864	16:g.81348864C>A	-
NM_022041.4(GAN):c.148G>T (p.Ala50Ser)	8139	GAN	Uncertain significance	761981181	RCV001044503;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348866	81348866	16:g.81348866G>T	-
NM_022041.4(GAN):c.151G>C (p.Ala51Pro)	8139	GAN	Uncertain significance	750258209	RCV000789122;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348869	81348869	16:g.81348869G>C	-
NM_022041.4(GAN):c.154A>G (p.Ser52Gly)	8139	GAN	Uncertain significance	1597385719	RCV000789631;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348872	81348872	16:g.81348872A>G	-
NM_022041.4(GAN):c.156C>T (p.Ser52=)	8139	GAN	Likely benign	377611091	RCV000244919\|RCV001416632;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348874	81348874	16:g.81348874C>T	ClinGen:CA8191261	CN169374 not specified;
NM_022041.4(GAN):c.158C>T (p.Pro53Leu)	8139	GAN	Uncertain significance	1597385722	RCV000789138;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348876	81348876	16:g.81348876C>T	-
NM_022041.4(GAN):c.159G>T (p.Pro53=)	8139	GAN	Benign/Likely benign	753351243	RCV000428362\|RCV001519308\|RCV002402188;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81348877	81348877	16:g.81348877G>T	ClinGen:CA8191262	CN169374 not specified;
NM_022041.4(GAN):c.162C>T (p.Tyr54=)	8139	GAN	Likely benign	-1	RCV002852572;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348880	81348880		-
NM_022041.4(GAN):c.167G>A (p.Arg56Lys)	8139	GAN	Uncertain significance	-1	RCV002810171;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348885	81348885	NC_000016.9:g.81348885G>A	-
NM_022041.4(GAN):c.167+4G>C	8139	GAN	Uncertain significance	778330202	RCV001368145;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348889	81348889	81348889	-
NM_022041.4(GAN):c.167+16C>G	8139	GAN	Likely benign	1377956860	RCV002177764;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348901	81348901	81348901	-
NM_022041.4(GAN):c.167+16C>T	8139	GAN	Likely benign	-1	RCV002633408;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81348901	81348901	NC_000016.9:g.81348901C>T	-
NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del	8139	GAN	Likely pathogenic	-1	RCV000721941;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81367334	81410823		-
NM_022041.4(GAN):c.168-11C>T	8139	GAN	Likely benign	-1	RCV003053259;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385177	81385177	NC_000016.9:g.81385177C>T	-
NM_022041.4(GAN):c.168-5C>G	8139	GAN	Uncertain significance	1355051159	RCV001983878;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385183	81385183	81385183	-
NM_022041.4(GAN):c.168-1G>A	8139	GAN	Uncertain significance	1597399963	RCV000789125;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385187	81385187	16:g.81385187G>A	-
NM_022041.4(GAN):c.170C>T (p.Thr57Ile)	8139	GAN	Uncertain significance	2150683797	RCV001958276;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385190	81385190	81385190	-
NM_022041.4(GAN):c.173A>G (p.Lys58Arg)	8139	GAN	Uncertain significance	1265285256	RCV000529295;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385193	81385193	NC_000016.9:g.81385193A>G	ClinGen:CA396865181	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.182A>G (p.Tyr61Cys)	8139	GAN	Uncertain significance	-1	RCV002621663;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385202	81385202	NC_000016.9:g.81385202A>G	-
NM_022041.4(GAN):c.188C>T (p.Pro63Leu)	8139	GAN	Uncertain significance	1400059269	RCV001900774;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385208	81385208	81385208	-
NM_022041.4(GAN):c.198T>G (p.Asp66Glu)	8139	GAN	Uncertain significance	1910302068	RCV001055052;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385218	81385218	16:g.81385218T>G	-
NM_022041.4(GAN):c.200A>G (p.Asp67Gly)	8139	GAN	Uncertain significance	2150683815	RCV002002608;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385220	81385220	81385220	-
NM_022041.4(GAN):c.202G>T (p.Gly68Ter)	8139	GAN	Likely pathogenic	2150683817	RCV002244231;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385222	81385222	81385222	-
NM_022041.4(GAN):c.213T>A (p.Tyr71Ter)	8139	GAN	Uncertain significance	750735081	RCV000789123;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385233	81385233	16:g.81385233T>A	-
NM_022041.4(GAN):c.215A>T (p.Lys72Met)	8139	GAN	Pathogenic	-1	RCV003129575;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385235	81385235	NC_000016.9:g.81385235A>T	-
NM_022041.4(GAN):c.216G>A (p.Lys72=)	8139	GAN	Likely benign	780435880	RCV000983571;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385236	81385236	16:g.81385236G>A	-
NM_022041.4(GAN):c.218T>C (p.Ile73Thr)	8139	GAN	Uncertain significance	377294873	RCV000641252;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385238	81385238	16:g.81385238T>C	ClinGen:CA8191293	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.224T>A (p.Leu75His)	8139	GAN	Uncertain significance	1597399997	RCV000789141;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385244	81385244	16:g.81385244T>A	-
NM_022041.4(GAN):c.236C>T (p.Ser79Leu)	8139	GAN	Uncertain significance	1310137430	RCV000789762\|RCV001759482;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81385256	81385256	16:g.81385256C>T	-
NM_022041.4(GAN):c.237G>A (p.Ser79=)	8139	GAN	Likely benign	144007114	RCV000611140\|RCV000873650;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385257	81385257	16:g.81385257G>A	ClinGen:CA8191295	CN169374 not specified;
NM_022041.4(GAN):c.238G>C (p.Val80Leu)	8139	GAN	Uncertain significance	146629249	RCV001202338;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385258	81385258	16:g.81385258G>C	-
NM_022041.4(GAN):c.238G>T (p.Val80Leu)	8139	GAN	Uncertain significance	146629249	RCV001898538;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385258	81385258	81385258	-
NM_022041.4(GAN):c.244G>T (p.Val82Phe)	8139	GAN	Uncertain significance	371054532	RCV000789759;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385264	81385264	16:g.81385264G>T	-
NM_022041.4(GAN):c.244G>C (p.Val82Leu)	8139	GAN	Uncertain significance	371054532	RCV000818229\|RCV002442740;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81385264	81385264	16:g.81385264G>C	-
NM_022041.4(GAN):c.246T>G (p.Val82=)	8139	GAN	Likely benign	-1	RCV002740470;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385266	81385266		-
NM_022041.4(GAN):c.247A>G (p.Met83Val)	8139	GAN	Uncertain significance	770847887	RCV001228788;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385267	81385267	16:g.81385267A>G	-
NM_022041.4(GAN):c.252A>G (p.Arg84=)	8139	GAN	Likely benign	-1	RCV002996679;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385272	81385272		-
NM_022041.4(GAN):c.255G>A (p.Glu85=)	8139	GAN	Likely benign	911350150	RCV001502806;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385275	81385275	16:g.81385275G>A	-
NM_022041.4(GAN):c.256A>T (p.Ile86Phe)	8139	GAN	Uncertain significance	1597400020	RCV000789765;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385276	81385276	16:g.81385276A>T	-
NM_022041.4(GAN):c.260T>G (p.Leu87Arg)	8139	GAN	Uncertain significance	-1	RCV002283896;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385280	81385280	81385280	-
NM_022041.4(GAN):c.266A>G (p.Tyr89Cys)	8139	GAN	Uncertain significance	1597400024	RCV000789636;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385286	81385286	16:g.81385286A>G	-
NM_022041.4(GAN):c.274A>C (p.Ser92Arg)	8139	GAN	Uncertain significance	1910305049	RCV001052026;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385294	81385294	16:g.81385294A>C	-
NM_022041.4(GAN):c.275G>T (p.Ser92Ile)	8139	GAN	Uncertain significance	1910305133	RCV001329875;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385295	81385295	81385295	-
NM_022041.4(GAN):c.279G>T (p.Gly93=)	8139	GAN	Likely benign	-1	RCV002637630;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385299	81385299		-
NM_022041.4(GAN):c.282G>A (p.Gln94=)	8139	GAN	Uncertain significance	1039007762	RCV001304153;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385302	81385302	81385302	-
NM_022041.4(GAN):c.282+3A>C	8139	GAN	Uncertain significance	1597400032	RCV000789129;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385305	81385305	16:g.81385305A>C	-
NM_022041.4(GAN):c.282+7_282+9del	8139	GAN	Benign	563977770	RCV001510966;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385305	81385307	81385304	-
NM_022041.4(GAN):c.282+15_282+18del	8139	GAN	Likely benign	778175591	RCV002118491;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81385317	81385320	81385316	-
NM_022041.4(GAN):c.283-20T>C	8139	GAN	Benign/Likely benign	371984923	RCV000437772\|RCV002061397;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81387990	81387990	16:g.81387990T>C	ClinGen:CA8191330	CN169374 not specified;
NM_022041.4(GAN):c.283-15A>G	8139	GAN	Uncertain significance	754182168	RCV001119550;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81387995	81387995	16:g.81387995A>G	-
NM_022041.4(GAN):c.283-14T>C	8139	GAN	Conflicting interpretations of pathogenicity	369700456	RCV000246868\|RCV000349001;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81387996	81387996	16:g.81387996T>C	ClinGen:CA8191332	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.283-10A>G	8139	GAN	Likely benign	759028377	RCV001423405;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388000	81388000	16:g.81388000A>G	-
NM_022041.4(GAN):c.283-3T>A	8139	GAN	Uncertain significance	1910414763	RCV001216006\|RCV002561880;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388007	81388007	16:g.81388007T>A	-
NM_022041.4(GAN):c.288G>A (p.Arg96=)	8139	GAN	Likely benign	-1	RCV002716188;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388015	81388015		-
NM_022041.4(GAN):c.289C>G (p.Leu97Val)	8139	GAN	Uncertain significance	-1	RCV002607593;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388016	81388016	NC_000016.9:g.81388016C>G	-
NM_022041.4(GAN):c.293A>G (p.Asn98Ser)	8139	GAN	Uncertain significance	-1	RCV002620358;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388020	81388020	NC_000016.9:g.81388020A>G	-
NM_022041.4(GAN):c.295G>A (p.Glu99Lys)	8139	GAN	Uncertain significance	746154353	RCV001070193;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388022	81388022	16:g.81388022G>A	-
NM_022041.4(GAN):c.301dup (p.Thr101fs)	8139	GAN	Pathogenic	2150685528	RCV001949070;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388027	81388028	81388027	-
NM_022041.4(GAN):c.300T>C (p.Asp100=)	8139	GAN	Likely benign	1910415566	RCV002082529;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388027	81388027	81388027	-
NM_022041.4(GAN):c.304A>G (p.Ile102Val)	8139	GAN	Uncertain significance	779968294	RCV001036431;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388031	81388031	16:g.81388031A>G	-
NM_022041.4(GAN):c.305T>C (p.Ile102Thr)	8139	GAN	Uncertain significance	1597401492	RCV000789135\|RCV002290037;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388032	81388032	16:g.81388032T>C	-
NM_022041.4(GAN):c.307C>T (p.Gln103Ter)	8139	GAN	Pathogenic	1313883569	RCV002035230;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388034	81388034	81388034	-
NM_022041.4(GAN):c.311A>G (p.Asp104Gly)	8139	GAN	Uncertain significance	773783945	RCV000558682;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388038	81388038	NC_000016.9:g.81388038A>G	ClinGen:CA8191345	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.313GTT[1] (p.Val106del)	8139	GAN	Conflicting interpretations of pathogenicity	1567491395	RCV001324245\|RCV003325563;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN517202	16	81388039	81388041	81388038	-
NM_022041.4(GAN):c.314T>C (p.Val105Ala)	8139	GAN	Uncertain significance	761334418	RCV000785009;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388041	81388041	16:g.81388041T>C	-
NM_022041.4(GAN):c.322G>A (p.Ala108Thr)	8139	GAN	Uncertain significance	771660619	RCV000507610\|RCV001865659;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388049	81388049	NC_000016.9:g.81388049G>A	ClinGen:CA8191347	CN169374 not specified;
NM_022041.4(GAN):c.325G>C (p.Ala109Pro)	8139	GAN	Uncertain significance	1488932475	RCV002031598;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388052	81388052	81388052	-
NM_022041.4(GAN):c.330C>T (p.Asp110=)	8139	GAN	Likely benign	200045368	RCV000641267\|RCV002325251;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388057	81388057	NC_000016.9:g.81388057C>T	ClinGen:CA8191349	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.331C>T (p.Leu111=)	8139	GAN	Likely benign	765503261	RCV001451996;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388058	81388058	81388058	-
NM_022041.4(GAN):c.333G>A (p.Leu111=)	8139	GAN	Likely benign	753122436	RCV001444592;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388060	81388060	81388060	-
NM_022041.4(GAN):c.333G>C (p.Leu111=)	8139	GAN	Likely benign	753122436	RCV002085181;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388060	81388060	81388060	-
NM_022041.4(GAN):c.338T>G (p.Leu113Arg)	8139	GAN	Uncertain significance	1910417649	RCV001226739;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388065	81388065	16:g.81388065T>G	-
NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del)	8139	GAN	Uncertain significance	1597401516	RCV000789635;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388067	81388084	16:g.81388067_81388084del	-
NM_022041.4(GAN):c.345G>A (p.Thr115=)	8139	GAN	Likely benign	768322742	RCV000641251\|RCV001662689\|RCV002458058;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	81388072	81388072	NC_000016.9:g.81388072G>A	ClinGen:CA8191353	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.348C>G (p.Asp116Glu)	8139	GAN	Uncertain significance	-1	RCV002614437;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388075	81388075	NC_000016.9:g.81388075C>G	-
NM_022041.4(GAN):c.355A>T (p.Thr119Ser)	8139	GAN	Conflicting interpretations of pathogenicity	141396595	RCV000874825\|RCV001507350\|RCV002455949;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	81388082	81388082	16:g.81388082A>T	ClinGen:CA8191356	CN169374 not specified;
NM_022041.4(GAN):c.356C>G (p.Thr119Ser)	8139	GAN	Uncertain significance	750608407	RCV001962840;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388083	81388083	81388083	-
NM_022041.4(GAN):c.358C>T (p.Leu120=)	8139	GAN	Likely benign	113655220	RCV000878882\|RCV001696800\|RCV002339100;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	81388085	81388085	16:g.81388085C>T	ClinGen:CA8191358	CN169374 not specified;
NM_022041.4(GAN):c.358C>A (p.Leu120Met)	8139	GAN	Uncertain significance	113655220	RCV001201643;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388085	81388085	16:g.81388085C>A	-
NM_022041.4(GAN):c.362G>A (p.Cys121Tyr)	8139	GAN	Uncertain significance	2150685581	RCV002250847;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388089	81388089	81388089	-
NM_022041.4(GAN):c.371T>G (p.Phe124Cys)	8139	GAN	Uncertain significance	1597401545	RCV000789139;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388098	81388098	16:g.81388098T>G	-
NM_022041.4(GAN):c.374T>C (p.Leu125Ser)	8139	GAN	Likely pathogenic	1555511093	RCV000533057;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388101	81388101	16:g.81388101T>C	ClinGen:CA396867827	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.375G>A (p.Leu125=)	8139	GAN	Uncertain significance	1226659286	RCV001972924;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388102	81388102	81388102	-
NM_022041.4(GAN):c.381C>G (p.Gly127=)	8139	GAN	Uncertain significance	-1	RCV003033889;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388108	81388108		-
NM_022041.4(GAN):c.384del (p.Gly127_Cys128insTer)	8139	GAN	Pathogenic	1910419866	RCV001389386;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388111	81388111	81388110	-
NM_022041.4(GAN):c.402T>C (p.Cys134=)	8139	GAN	Likely benign	-1	RCV003111818;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388129	81388129		-
NM_022041.4(GAN):c.403A>G (p.Ile135Val)	8139	GAN	Uncertain significance	748121633	RCV000641249;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388130	81388130	NC_000016.9:g.81388130A>G	ClinGen:CA8191363	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.405T>A (p.Ile135=)	8139	GAN	Likely benign	771476213	RCV001428312;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388132	81388132	81388132	-
NM_022041.4(GAN):c.413G>A (p.Arg138His)	8139	GAN	Pathogenic	119485092	RCV000005338;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388140	81388140	16:g.81388140G>A	ClinGen:CA253400,UniProtKB:Q9H2C0#VAR_010763,OMIM:605379.0006	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.417C>G (p.Asp139Glu)	8139	GAN	Uncertain significance	770618198	RCV001345225;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388144	81388144	81388144	-
NM_022041.4(GAN):c.423A>C (p.Ala141=)	8139	GAN	Likely benign	-1	RCV002635248;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388150	81388150		-
NM_022041.4(GAN):c.426A>C (p.Leu142=)	8139	GAN	Likely benign	775953461	RCV001448873;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388153	81388153	81388153	-
NM_022041.4(GAN):c.427C>G (p.His143Asp)	8139	GAN	Uncertain significance	1910421613	RCV001239587;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388154	81388154	16:g.81388154C>G	-
NM_022041.4(GAN):c.428A>G (p.His143Arg)	8139	GAN	Uncertain significance	1330501647	RCV001908519;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388155	81388155	81388155	-
NM_022041.4(GAN):c.431A>G (p.Tyr144Cys)	8139	GAN	Uncertain significance	1910421798	RCV001208601;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388158	81388158	16:g.81388158A>G	-
NM_022041.4(GAN):c.440A>G (p.His147Arg)	8139	GAN	Uncertain significance	763438490	RCV001119551;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388167	81388167	16:g.81388167A>G	-
NM_022041.4(GAN):c.442C>G (p.His148Asp)	8139	GAN	Uncertain significance	1910422294	RCV001220493;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388169	81388169	16:g.81388169C>G	-
NM_022041.4(GAN):c.444C>T (p.His148=)	8139	GAN	Conflicting interpretations of pathogenicity	764605890	RCV000402535\|RCV002328834;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388171	81388171	NC_000016.9:g.81388171C>T	ClinGen:CA8191369	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.445G>A (p.Val149Ile)	8139	GAN	Uncertain significance	369703737	RCV000658752\|RCV001059319\|RCV002331291;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388172	81388172	16:g.81388172G>A	-	CN517202 not provided;
NM_022041.4(GAN):c.453C>T (p.Tyr151=)	8139	GAN	Likely benign	762452364	RCV002083688;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388180	81388180	81388180	-
NM_022041.4(GAN):c.465A>G (p.Glu155=)	8139	GAN	Likely benign	-1	RCV002612490;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388192	81388192		-
NM_022041.4(GAN):c.471G>A (p.Leu157=)	8139	GAN	Conflicting interpretations of pathogenicity	143704621	RCV001119552;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388198	81388198	16:g.81388198G>A	-
NM_022041.4(GAN):c.476C>T (p.Thr159Ile)	8139	GAN	Uncertain significance	1201363054	RCV001207098;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388203	81388203	16:g.81388203C>T	-
NM_022041.4(GAN):c.478C>T (p.His160Tyr)	8139	GAN	Uncertain significance	-1	RCV002710429;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388205	81388205	NC_000016.9:g.81388205C>T	-
NM_022041.4(GAN):c.479A>G (p.His160Arg)	8139	GAN	Uncertain significance	373474009	RCV000557943\|RCV002330883;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388206	81388206	NC_000016.9:g.81388206A>G	ClinGen:CA8191374	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.480T>C (p.His160=)	8139	GAN	Likely benign	1440332290	RCV002118517;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388207	81388207	81388207	-
NM_022041.4(GAN):c.484C>T (p.Arg162Ter)	8139	GAN	Pathogenic	1300267158	RCV000789758;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388211	81388211	16:g.81388211C>T	-
NM_022041.4(GAN):c.484C>G (p.Arg162Gly)	8139	GAN	Uncertain significance	-1	RCV002572606;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388211	81388211	NC_000016.9:g.81388211C>G	-
NM_022041.4(GAN):c.485G>A (p.Arg162Gln)	8139	GAN	Uncertain significance	-1	RCV002340334\|RCV003096497;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388212	81388212	81388212	-
NM_022041.4(GAN):c.487G>C (p.Asp163His)	8139	GAN	Uncertain significance	1910424038	RCV001058900;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388214	81388214	16:g.81388214G>C	-
NM_022041.4(GAN):c.490G>A (p.Val164Ile)	8139	GAN	Uncertain significance	778744880	RCV001909045\|RCV002265042;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81388217	81388217	81388217	-
NM_022041.4(GAN):c.492C>T (p.Val164=)	8139	GAN	Likely benign	553692036	RCV000536245\|RCV001698310;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81388219	81388219	16:g.81388219C>T	ClinGen:CA8191379	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.497G>C (p.Ser166Thr)	8139	GAN	Uncertain significance	758366654	RCV001864969;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388224	81388224	81388224	-
NM_022041.4(GAN):c.497G>T (p.Ser166Ile)	8139	GAN	Uncertain significance	-1	RCV002617645;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388224	81388224	NC_000016.9:g.81388224G>T	-
NM_022041.4(GAN):c.500C>T (p.Thr167Met)	8139	GAN	Uncertain significance	143187097	RCV000813070;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388227	81388227	16:g.81388227C>T	-
NM_022041.4(GAN):c.501G>A (p.Thr167=)	8139	GAN	Likely benign	770663433	RCV001443056;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388228	81388228	81388228	-
NM_022041.4(GAN):c.502G>T (p.Glu168Ter)	8139	GAN	Pathogenic	776404697	RCV001922180;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388229	81388229	81388229	-
NM_022041.4(GAN):c.505G>A (p.Glu169Lys)	8139	GAN	Conflicting interpretations of pathogenicity	119485095	RCV000005341;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388232	81388232	16:g.81388232G>A	ClinGen:CA253407,OMIM:605379.0009	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.510C>G (p.Phe170Leu)	8139	GAN	Uncertain significance	1401068154	RCV001921278;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388237	81388237	81388237	-
NM_022041.4(GAN):c.517C>G (p.Leu173Val)	8139	GAN	Uncertain significance	1910425442	RCV002226848;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388244	81388244	81388244	-
NM_022041.4(GAN):c.519G>C (p.Leu173=)	8139	GAN	Likely benign	2150685694	RCV001492462;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388246	81388246	81388246	-
NM_022041.4(GAN):c.528A>G (p.Gln176=)	8139	GAN	Likely benign	112693832	RCV001425678;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388255	81388255	81388255	-
NM_022041.4(GAN):c.531G>C (p.Lys177Asn)	8139	GAN	Uncertain significance	-1	RCV002885576;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388258	81388258	NC_000016.9:g.81388258G>C	-
NM_022041.4(GAN):c.538G>C (p.Glu180Gln)	8139	GAN	Uncertain significance	768074318	RCV002024718;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388265	81388265	81388265	-
NM_022041.4(GAN):c.545T>A (p.Ile182Asn)	8139	GAN	Uncertain significance	1258332075	RCV000789128\|RCV002343643;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388272	81388272	16:g.81388272T>A	-
NM_022041.4(GAN):c.558G>A (p.Lys186=)	8139	GAN	Likely benign	1193541281	RCV001447597;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388285	81388285	81388285	-
NM_022041.4(GAN):c.564C>T (p.Asn188=)	8139	GAN	Likely benign	201884522	RCV000641266\|RCV002343277;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388291	81388291	NC_000016.9:g.81388291C>T	ClinGen:CA8191391	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.564C>G (p.Asn188Lys)	8139	GAN	Uncertain significance	201884522	RCV000693283;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388291	81388291	16:g.81388291C>G	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.565G>T (p.Val189Phe)	8139	GAN	Uncertain significance	766484755	RCV000235679\|RCV001857809;	N	MedGen:CN517202\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388292	81388292	16:g.81388292G>T	ClinGen:CA8191393	CN169374 not specified;
NM_022041.4(GAN):c.565G>A (p.Val189Ile)	8139	GAN	Uncertain significance	766484755	RCV001369486;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388292	81388292	81388292	-
NM_022041.4(GAN):c.570C>G (p.Gly190=)	8139	GAN	Likely benign	993338852	RCV002219404;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388297	81388297	81388297	-
NM_022041.4(GAN):c.572A>G (p.Asn191Ser)	8139	GAN	Uncertain significance	139748896	RCV001119553\|RCV002348565;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81388299	81388299	16:g.81388299A>G	-
NM_022041.4(GAN):c.573T>C (p.Asn191=)	8139	GAN	Likely benign	-1	RCV003027955;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388300	81388300		-
NM_022041.4(GAN):c.575A>G (p.Glu192Gly)	8139	GAN	Uncertain significance	1597401698	RCV000806870;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388302	81388302	16:g.81388302A>G	-
NM_022041.4(GAN):c.580T>G (p.Tyr194Asp)	8139	GAN	Uncertain significance	1910428014	RCV001874520;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388307	81388307	81388307	-
NM_022041.4(GAN):c.581A>T (p.Tyr194Phe)	8139	GAN	Uncertain significance	1567491555	RCV000693770;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388308	81388308	NC_000016.9:g.81388308A>T	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.583G>T (p.Val195Phe)	8139	GAN	Uncertain significance	1432344872	RCV000789637;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388310	81388310	16:g.81388310G>T	-
NM_022041.4(GAN):c.600T>C (p.Ile200=)	8139	GAN	Likely benign	1024446964	RCV000938397;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388327	81388327	16:g.81388327T>C	-
NM_022041.4(GAN):c.601C>T (p.Arg201Ter)	8139	GAN	Pathogenic	119485090	RCV000005336;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388328	81388328	16:g.81388328C>T	ClinGen:CA253395,OMIM:605379.0004	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.602G>A (p.Arg201Gln)	8139	GAN	Uncertain significance	967957134	RCV000801011;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388329	81388329	16:g.81388329G>A	-
NM_022041.4(GAN):c.614A>G (p.His205Arg)	8139	GAN	Uncertain significance	-1	RCV002360413\|RCV003098153;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388341	81388341	81388341	-
NM_022041.4(GAN):c.625A>G (p.Ile209Val)	8139	GAN	Uncertain significance	369789553	RCV001296165;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388352	81388352	81388352	-
NM_022041.4(GAN):c.626del (p.Ile209fs)	8139	GAN	Likely pathogenic	-1	RCV003145792;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388353	81388353	NC_000016.9:g.81388353del	-
NM_022041.4(GAN):c.633G>C (p.Lys211Asn)	8139	GAN	Uncertain significance	201676105	RCV000700162;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388360	81388360	16:g.81388360G>C	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.633+1G>T	8139	GAN	Uncertain significance	1597401738	RCV000789126;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388361	81388361	16:g.81388361G>T	-
NM_022041.4(GAN):c.633+1G>A	8139	GAN	Likely pathogenic	1597401738	RCV001095725;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388361	81388361	16:g.81388361G>A	-
NM_022041.4(GAN):c.633+10A>G	8139	GAN	Likely benign	-1	RCV003079302;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388370	81388370	NC_000016.9:g.81388370A>G	-
NM_022041.4(GAN):c.633+11T>C	8139	GAN	Likely benign	-1	RCV003095344;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388371	81388371	NC_000016.9:g.81388371T>C	-
NM_022041.4(GAN):c.633+19A>G	8139	GAN	Benign/Likely benign	112194888	RCV000440353\|RCV002065009;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81388379	81388379	16:g.81388379A>G	ClinGen:CA8191407	CN169374 not specified;
NM_022041.4(GAN):c.634-15T>C	8139	GAN	Benign/Likely benign	367608270	RCV000420338\|RCV002065054;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390375	81390375	16:g.81390375T>C	ClinGen:CA8191432	CN169374 not specified;
NM_022041.4(GAN):c.634-9C>T	8139	GAN	Likely benign	-1	RCV003104653;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390381	81390381	NC_000016.9:g.81390381C>T	-
NM_022041.4(GAN):c.634-6C>T	8139	GAN	Conflicting interpretations of pathogenicity	199874705	RCV001119554;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390384	81390384	16:g.81390384C>T	-
NM_022041.4(GAN):c.637C>A (p.His213Asn)	8139	GAN	Uncertain significance	755664230	RCV001321112;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390393	81390393	81390393	-
NM_022041.4(GAN):c.638A>G (p.His213Arg)	8139	GAN	Uncertain significance	749117247	RCV001904958\|RCV002359296;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390394	81390394	81390394	-
NM_022041.4(GAN):c.639C>T (p.His213=)	8139	GAN	Likely benign	753515891	RCV002137765;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390395	81390395	81390395	-
NM_022041.4(GAN):c.640A>T (p.Met214Leu)	8139	GAN	Uncertain significance	778132221	RCV001229973;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390396	81390396	16:g.81390396A>T	-
NM_022041.4(GAN):c.640A>G (p.Met214Val)	8139	GAN	Uncertain significance	778132221	RCV001242531;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390396	81390396	16:g.81390396A>G	-
NM_022041.4(GAN):c.642G>A (p.Met214Ile)	8139	GAN	Uncertain significance	374659636	RCV001339504;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390398	81390398	81390398	-
NM_022041.4(GAN):c.647A>T (p.Asp216Val)	8139	GAN	Uncertain significance	1367661696	RCV000809415;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390403	81390403	16:g.81390403A>T	-
NM_022041.4(GAN):c.660T>C (p.Ala220=)	8139	GAN	Likely benign	1555511259	RCV000616826\|RCV001505112\|RCV002377302;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390416	81390416	16:g.81390416T>C	ClinGen:CA496834061	CN169374 not specified;
NM_022041.4(GAN):c.670T>G (p.Ser224Ala)	8139	GAN	Uncertain significance	139055455	RCV000796180\|RCV001766639;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN517202	16	81390426	81390426	16:g.81390426T>G	-
NM_022041.4(GAN):c.671C>T (p.Ser224Leu)	8139	GAN	Uncertain significance	554667758	RCV001240739\|RCV003263881;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390427	81390427	16:g.81390427C>T	-
NM_022041.4(GAN):c.672A>G (p.Ser224=)	8139	GAN	Likely benign	143692174	RCV002134332;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390428	81390428	81390428	-
NM_022041.4(GAN):c.675G>T (p.Gly225=)	8139	GAN	Uncertain significance	1201072918	RCV001321546;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390431	81390431	81390431	-
NM_022041.4(GAN):c.682T>C (p.Ser228Pro)	8139	GAN	Uncertain significance	150589329	RCV001364824\|RCV002368178;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390438	81390438	81390438	-
NM_022041.4(GAN):c.683C>A (p.Ser228Tyr)	8139	GAN	Uncertain significance	1301648787	RCV000641250;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390439	81390439	NC_000016.9:g.81390439C>A	ClinGen:CA396870833	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.687T>C (p.Ser229=)	8139	GAN	Likely benign	-1	RCV003083008;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390443	81390443		-
NM_022041.4(GAN):c.695G>A (p.Arg232Gln)	8139	GAN	Uncertain significance	760587601	RCV000548156;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390451	81390451	NC_000016.9:g.81390451G>A	ClinGen:CA8191453	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.701A>T (p.Gln234Leu)	8139	GAN	Uncertain significance	1323162015	RCV001908224;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390457	81390457	81390457	-
NM_022041.4(GAN):c.703A>G (p.Met235Val)	8139	GAN	Uncertain significance	-1	RCV003039020;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390459	81390459	NC_000016.9:g.81390459A>G	-
NM_022041.4(GAN):c.705G>A (p.Met235Ile)	8139	GAN	Uncertain significance	1910503027	RCV001232365;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390461	81390461	16:g.81390461G>A	-
NM_022041.4(GAN):c.715C>G (p.Pro239Ala)	8139	GAN	Uncertain significance	184128641	RCV000809011\|RCV002363087;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390471	81390471	16:g.81390471C>G	-
NM_022041.4(GAN):c.724C>T (p.Arg242Ter)	8139	GAN	Uncertain significance	764816887	RCV000789768;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390480	81390480	16:g.81390480C>T	-
NM_022041.4(GAN):c.725G>A (p.Arg242Gln)	8139	GAN	Uncertain significance	371906996	RCV001121551\|RCV001507351;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81390481	81390481	16:g.81390481G>A	-
NM_022041.4(GAN):c.730A>G (p.Ile244Val)	8139	GAN	Conflicting interpretations of pathogenicity	200749953	RCV000144871\|RCV000295442\|RCV000859286\|RCV002381452;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	81390486	81390486	NC_000016.9:g.81390486A>G	ClinGen:CA270932	C0007959 Charcot-Marie-Tooth disease;
NM_022041.4(GAN):c.732del (p.Ile244fs)	8139	GAN	Uncertain significance	1597402826	RCV000789134;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390487	81390487	16:g.81390487_81390487del	-
NM_022041.4(GAN):c.741G>A (p.Glu247=)	8139	GAN	Likely benign	781606880	RCV000536554\|RCV002384143;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390497	81390497	NC_000016.9:g.81390497G>A	ClinGen:CA8191459	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.743G>A (p.Cys248Tyr)	8139	GAN	Uncertain significance	377034780	RCV000698939\|RCV002533546;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390499	81390499	16:g.81390499G>A	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.753A>C (p.Ile251=)	8139	GAN	Likely benign	-1	RCV002746053;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390509	81390509		-
NM_022041.4(GAN):c.755C>T (p.Pro252Leu)	8139	GAN	Uncertain significance	768875907	RCV001955442;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390511	81390511	81390511	-
NM_022041.4(GAN):c.756G>T (p.Pro252=)	8139	GAN	Likely benign	138585506	RCV001460867;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390512	81390512	16:g.81390512G>T	-
NM_022041.4(GAN):c.756G>A (p.Pro252=)	8139	GAN	Likely benign	138585506	RCV001433578;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390512	81390512	81390512	-
NM_022041.4(GAN):c.759C>T (p.Leu253=)	8139	GAN	Likely benign	1046641258	RCV001396159;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390515	81390515	81390515	-
NM_022041.4(GAN):c.761G>A (p.Ser254Asn)	8139	GAN	Uncertain significance	748422716	RCV001232327\|RCV002393577;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390517	81390517	16:g.81390517G>A	-
NM_022041.4(GAN):c.767C>A (p.Pro256Gln)	8139	GAN	Uncertain significance	773154188	RCV000801576;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390523	81390523	16:g.81390523C>A	-
NM_022041.4(GAN):c.767C>T (p.Pro256Leu)	8139	GAN	Uncertain significance	-1	RCV003097519;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390523	81390523	NC_000016.9:g.81390523C>T	-
NM_022041.4(GAN):c.771G>A (p.Gln257=)	8139	GAN	Likely benign	-1	RCV002579979;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390527	81390527		-
NM_022041.4(GAN):c.774A>G (p.Gln258=)	8139	GAN	Likely benign	200071920	RCV002179589;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390530	81390530	81390530	-
NM_022041.4(GAN):c.782C>T (p.Ala261Val)	8139	GAN	Uncertain significance	574374537	RCV001340350;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390538	81390538	81390538	-
NM_022041.4(GAN):c.783G>T (p.Ala261=)	8139	GAN	Likely benign	774678754	RCV001461751;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390539	81390539	81390539	-
NM_022041.4(GAN):c.783G>A (p.Ala261=)	8139	GAN	Likely benign	774678754	RCV002102012;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390539	81390539	81390539	-
NM_022041.4(GAN):c.787C>A (p.Leu263Met)	8139	GAN	Uncertain significance	777669477	RCV001933027;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390543	81390543	81390543	-
NM_022041.4(GAN):c.794A>G (p.Asn265Ser)	8139	GAN	Uncertain significance	982338741	RCV000818262;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390550	81390550	16:g.81390550A>G	-
NM_022041.4(GAN):c.795C>G (p.Asn265Lys)	8139	GAN	Uncertain significance	373811145	RCV001927919;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390551	81390551	81390551	-
NM_022041.4(GAN):c.800A>G (p.Lys267Arg)	8139	GAN	Uncertain significance	777669948	RCV001878240;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390556	81390556	81390556	-
NM_022041.4(GAN):c.801A>G (p.Lys267=)	8139	GAN	Conflicting interpretations of pathogenicity	746799355	RCV000345753\|RCV002418171;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390557	81390557	16:g.81390557A>G	ClinGen:CA8191486	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.803C>T (p.Pro268Leu)	8139	GAN	Uncertain significance	-1	RCV002801798;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390559	81390559	NC_000016.9:g.81390559C>T	-
NM_022041.4(GAN):c.804C>G (p.Pro268=)	8139	GAN	Uncertain significance	-1	RCV003135321;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390560	81390560		-
NM_022041.4(GAN):c.805C>T (p.Arg269Trp)	8139	GAN	Pathogenic/Likely pathogenic	776397915	RCV000707568\|RCV002406651;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390561	81390561	NC_000016.9:g.81390561C>T	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)	8139	GAN	Conflicting interpretations of pathogenicity	759581558	RCV000623340\|RCV000789766;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390562	81390562	NC_000016.9:g.81390562G>A	ClinGen:CA8191489	C0950123 Inborn genetic diseases;
NM_022041.4(GAN):c.813C>T (p.Tyr271=)	8139	GAN	Likely benign	-1	RCV002617689;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390569	81390569		-
NM_022041.4(GAN):c.815C>G (p.Ser272Cys)	8139	GAN	Uncertain significance	-1	RCV002991431;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390571	81390571	NC_000016.9:g.81390571C>G	-
NM_022041.4(GAN):c.819G>A (p.Glu273=)	8139	GAN	Likely benign	987754331	RCV001431061;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390575	81390575	16:g.81390575G>A	-
NM_022041.4(GAN):c.822C>T (p.Cys274=)	8139	GAN	Likely benign	1437220056	RCV002162072;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390578	81390578	81390578	-
NM_022041.4(GAN):c.830C>G (p.Thr277Ser)	8139	GAN	Uncertain significance	-1	RCV002430376\|RCV003099903;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390586	81390586	81390586	-
NM_022041.4(GAN):c.831T>G (p.Thr277=)	8139	GAN	Likely benign	1337406075	RCV002197712;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390587	81390587	81390587	-
NM_022041.4(GAN):c.833T>C (p.Val278Ala)	8139	GAN	Uncertain significance	-1	RCV002914913;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390589	81390589	NC_000016.9:g.81390589T>C	-
NM_022041.4(GAN):c.837T>C (p.Gly279=)	8139	GAN	Likely benign	-1	RCV002603972;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390593	81390593		-
NM_022041.4(GAN):c.838G>A (p.Gly280Arg)	8139	GAN	Uncertain significance	1270020554	RCV000551298;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390594	81390594	16:g.81390594G>A	ClinGen:CA396872397	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.846G>C (p.Glu282Asp)	8139	GAN	Uncertain significance	778114770	RCV001040045;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390602	81390602	16:g.81390602G>C	-
NM_022041.4(GAN):c.851+1G>A	8139	GAN	Pathogenic/Likely pathogenic	747291494	RCV000235982\|RCV000506058\|RCV000763387\|RCV002444938;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81390608	81390608	16:g.81390608G>A	ClinGen:CA8191503	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.851+7A>G	8139	GAN	Uncertain significance	-1	RCV002795751;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390614	81390614	NC_000016.9:g.81390614A>G	-
NM_022041.4(GAN):c.851+15G>A	8139	GAN	Likely benign	1254409580	RCV002176495;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81390622	81390622	81390622	-
NM_022041.4(GAN):c.852-13T>C	8139	GAN	Likely benign	758517277	RCV000607001\|RCV002532747;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391402	81391402	16:g.81391402T>C	ClinGen:CA623755674	CN169374 not specified;
NM_022041.4(GAN):c.852-8T>C	8139	GAN	Likely benign	780786555	RCV000525612;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391407	81391407	NC_000016.9:g.81391407T>C	ClinGen:CA8191523	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.852-5del	8139	GAN	Likely benign	2150687565	RCV001457063;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391409	81391409	81391408	-
NM_022041.4(GAN):c.852-6C>T	8139	GAN	Likely benign	-1	RCV002600129;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391409	81391409	NC_000016.9:g.81391409C>T	-
NM_022041.4(GAN):c.852-4T>C	8139	GAN	Likely benign	-1	RCV003024409;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391411	81391411	NC_000016.9:g.81391411T>C	-
NM_022041.4(GAN):c.852-1G>T	8139	GAN	Likely pathogenic	1408504352	RCV002022298;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391414	81391414	81391414	-
NM_022041.4(GAN):c.856C>T (p.Arg286Trp)	8139	GAN	Uncertain significance	756000444	RCV001297071;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391419	81391419	81391419	-
NM_022041.4(GAN):c.857G>A (p.Arg286Gln)	8139	GAN	Uncertain significance	922025345	RCV000816778\|RCV002406863;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81391420	81391420	16:g.81391420G>A	-
NM_022041.4(GAN):c.861dup (p.Pro288fs)	8139	GAN	Pathogenic	-1	RCV003221340;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391421	81391422		-
NM_022041.4(GAN):c.862C>G (p.Pro288Ala)	8139	GAN	Uncertain significance	1249160013	RCV000823298;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391425	81391425	16:g.81391425C>G	-
NM_022041.4(GAN):c.868G>T (p.Ala290Ser)	8139	GAN	Uncertain significance	943541215	RCV001300663;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391431	81391431	81391431	-
NM_022041.4(GAN):c.873G>A (p.Ala291=)	8139	GAN	Likely benign	749264810	RCV001430463;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391436	81391436	16:g.81391436G>A	-
NM_022041.4(GAN):c.875T>C (p.Met292Thr)	8139	GAN	Uncertain significance	-1	RCV002839216;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391438	81391438	NC_000016.9:g.81391438T>C	-
NM_022041.4(GAN):c.877C>T (p.Arg293Ter)	8139	GAN	Pathogenic	370358470	RCV000789764;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391440	81391440	16:g.81391440C>T	-
NM_022041.4(GAN):c.879A>G (p.Arg293=)	8139	GAN	Likely benign	-1	RCV002584968;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391442	81391442		-
NM_022041.4(GAN):c.882C>T (p.Cys294=)	8139	GAN	Likely benign	-1	RCV003087739;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391445	81391445		-
NM_022041.4(GAN):c.884T>C (p.Met295Thr)	8139	GAN	Uncertain significance	747687913	RCV000810747;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391447	81391447	16:g.81391447T>C	-
NM_022041.4(GAN):c.890C>T (p.Pro297Leu)	8139	GAN	Likely pathogenic	771785420	RCV000735275;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391453	81391453	NC_000016.9:g.81391453C>T	-
NM_022041.4(GAN):c.891T>G (p.Pro297=)	8139	GAN	Likely benign	-1	RCV003045524;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391454	81391454		-
NM_022041.4(GAN):c.896A>C (p.Tyr299Ser)	8139	GAN	Uncertain significance	1254823893	RCV000789634;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391459	81391459	16:g.81391459A>C	-
NM_022041.4(GAN):c.896A>G (p.Tyr299Cys)	8139	GAN	Uncertain significance	1254823893	RCV000789770;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391459	81391459	16:g.81391459A>G	-
NM_022041.4(GAN):c.902dup (p.Pro301_Asn302insTer)	8139	GAN	Pathogenic	2150687608	RCV001380843;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391462	81391463	81391462	-
NM_022041.4(GAN):c.904A>G (p.Asn302Asp)	8139	GAN	Uncertain significance	201937723	RCV001228064;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391467	81391467	16:g.81391467A>G	-
NM_022041.4(GAN):c.918G>A (p.Trp306Ter)	8139	GAN	Likely pathogenic	-1	RCV002283841;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391481	81391481	81391481	-
NM_022041.4(GAN):c.921C>A (p.Ile307=)	8139	GAN	Likely benign	-1	RCV003108715;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391484	81391484		-
NM_022041.4(GAN):c.921C>T (p.Ile307=)	8139	GAN	Likely benign	-1	RCV002885481;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391484	81391484		-
NM_022041.4(GAN):c.922G>A (p.Glu308Lys)	8139	GAN	Uncertain significance	1192845121	RCV001054166;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391485	81391485	16:g.81391485G>A	-
NM_022041.4(GAN):c.926T>G (p.Leu309Arg)	8139	GAN	Uncertain significance	1597403384	RCV000789760;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391489	81391489	16:g.81391489T>G	-
NM_022041.4(GAN):c.937A>G (p.Ser313Gly)	8139	GAN	Uncertain significance	751666826	RCV002010493;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391500	81391500	81391500	-
NM_022041.4(GAN):c.944C>T (p.Pro315Leu)	8139	GAN	Conflicting interpretations of pathogenicity	144486241	RCV000236891\|RCV000396992\|RCV002374390\|RCV003320356;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0000128,MedGen:C5200933,OMIM:PS256850	16	81391507	81391507	16:g.81391507C>T	ClinGen:CA8191540,UniProtKB:Q9H2C0#VAR_054116	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.944C>G (p.Pro315Arg)	8139	GAN	Uncertain significance	-1	RCV003073731;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391507	81391507	NC_000016.9:g.81391507C>G	-
NM_022041.4(GAN):c.945G>A (p.Pro315=)	8139	GAN	Likely benign	139230642	RCV000641265\|RCV002369684;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81391508	81391508	NC_000016.9:g.81391508G>A	ClinGen:CA8191542	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.955C>A (p.His319Asn)	8139	GAN	Uncertain significance	779893652	RCV001066910;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391518	81391518	16:g.81391518C>A	-
NM_022041.4(GAN):c.956A>G (p.His319Arg)	8139	GAN	Uncertain significance	-1	RCV002938276;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391519	81391519	NC_000016.9:g.81391519A>G	-
NM_022041.4(GAN):c.967T>C (p.Ser323Pro)	8139	GAN	Uncertain significance	1910545724	RCV001364123;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391530	81391530	81391530	-
NM_022041.4(GAN):c.970G>T (p.Ala324Ser)	8139	GAN	Uncertain significance	1910545878	RCV001069270;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391533	81391533	16:g.81391533G>T	-
NM_022041.4(GAN):c.971C>T (p.Ala324Val)	8139	GAN	Uncertain significance	778244338	RCV000789133;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391534	81391534	16:g.81391534C>T	-
NM_022041.4(GAN):c.973G>A (p.Glu325Lys)	8139	GAN	Uncertain significance	1597403411	RCV000789757\|RCV002370063;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81391536	81391536	16:g.81391536G>A	-
NM_022041.4(GAN):c.973+4C>G	8139	GAN	Uncertain significance	189406050	RCV000817429;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391540	81391540	16:g.81391540C>G	-
NM_022041.4(GAN):c.973+6G>A	8139	GAN	Conflicting interpretations of pathogenicity	372665411	RCV000820002\|RCV001564066\|RCV002381858;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	81391542	81391542	16:g.81391542G>A	-
NM_022041.4(GAN):c.973+9C>G	8139	GAN	Likely benign	1383717688	RCV002098196;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391545	81391545	81391545	-
NM_022041.4(GAN):c.973+17A>C	8139	GAN	Likely benign	-1	RCV002933351;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391553	81391553	NC_000016.9:g.81391553A>C	-
NM_022041.4(GAN):c.973+19T>G	8139	GAN	Likely benign	2150687676	RCV002147064;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81391555	81391555	81391555	-
NC_000016.9:g.(?_81396084)_(81411201_?)dup	8139	GAN	Uncertain significance	-1	RCV001979075;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396084	81411201	-1	-
NM_022041.4(GAN):c.974-16C>T	8139	GAN	Likely benign	2150690176	RCV002177573;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396088	81396088	81396088	-
NM_022041.4(GAN):c.974-16C>G	8139	GAN	Likely benign	-1	RCV002721488;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396088	81396088	NC_000016.9:g.81396088C>G	-
NM_022041.4(GAN):c.974-13T>C	8139	GAN	Likely benign	996280683	RCV002085925;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396091	81396091	81396091	-
NM_022041.4(GAN):c.974-11G>C	8139	GAN	Conflicting interpretations of pathogenicity	753746307	RCV000310694;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396093	81396093	NC_000016.9:g.81396093G>C	ClinGen:CA8191570	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.974-8C>A	8139	GAN	Uncertain significance	1463640637	RCV000685993;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396096	81396096	NC_000016.9:g.81396096C>A	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.974-2A>G	8139	GAN	Likely pathogenic	2150690183	RCV002045325;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396102	81396102	81396102	-
NM_022041.4(GAN):c.976G>C (p.Gly326Arg)	8139	GAN	Uncertain significance	773294836	RCV001307278;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396106	81396106	81396106	-
NM_022041.4(GAN):c.982T>C (p.Leu328=)	8139	GAN	Likely benign	-1	RCV002736456;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396112	81396112		-
NM_022041.4(GAN):c.988G>T (p.Val330Leu)	8139	GAN	Uncertain significance	1910708136	RCV001296664;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396118	81396118	81396118	-
NM_022041.4(GAN):c.990A>G (p.Val330=)	8139	GAN	Likely benign	1261401081	RCV001464646;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396120	81396120	81396120	-
NM_022041.4(GAN):c.993C>T (p.Phe331=)	8139	GAN	Likely benign	199908897	RCV000871192;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396123	81396123	16:g.81396123C>T	-
NM_022041.4(GAN):c.993del (p.Phe331fs)	8139	GAN	Pathogenic	2150690197	RCV001391001;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396123	81396123	81396122	-
NM_022041.4(GAN):c.994G>A (p.Gly332Arg)	8139	GAN	Conflicting interpretations of pathogenicity	1567494825	RCV000701417\|RCV001814221;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|Human Phenotype Ontology:HP:0003157,Human Phenotype Ontology:HP:0003407,Human Phenotype Ontology:HP:0007088,Human Phenotype Ontology:HP:0007235,Human Phenotype Ontology:HP:0007355,Human Phenot	16	81396124	81396124	16:g.81396124G>A	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.996G>A (p.Gly332=)	8139	GAN	Likely benign	1429661395	RCV002104604;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396126	81396126	81396126	-
NM_022041.4(GAN):c.998G>A (p.Gly333Asp)	8139	GAN	Uncertain significance	-1	RCV002735095;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396128	81396128	NC_000016.9:g.81396128G>A	-
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter)	8139	GAN	Pathogenic	1181977802	RCV000789769;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396142	81396142	16:g.81396142A>T	-
NM_022041.4(GAN):c.1012A>G (p.Lys338Glu)	8139	GAN	Uncertain significance	-1	RCV002771628;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396142	81396142	NC_000016.9:g.81396142A>G	-
NM_022041.4(GAN):c.1015C>G (p.Gln339Glu)	8139	GAN	Uncertain significance	759342719	RCV000812398;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396145	81396145	16:g.81396145C>G	-
NM_022041.4(GAN):c.1016A>G (p.Gln339Arg)	8139	GAN	Uncertain significance	1462816857	RCV000641255;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396146	81396146	NC_000016.9:g.81396146A>G	ClinGen:CA396874908	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1017G>A (p.Gln339=)	8139	GAN	Conflicting interpretations of pathogenicity	201451382	RCV000873414;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396147	81396147	16:g.81396147G>A	-
NM_022041.4(GAN):c.1020T>A (p.Thr340=)	8139	GAN	Likely benign	1404742641	RCV001435945;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396150	81396150	81396150	-
NM_022041.4(GAN):c.1022T>C (p.Leu341Pro)	8139	GAN	Uncertain significance	1555511769	RCV000641257;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396152	81396152	NC_000016.9:g.81396152T>C	ClinGen:CA396874974	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1037A>G (p.Lys346Arg)	8139	GAN	Uncertain significance	2150690226	RCV001864644;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396167	81396167	81396167	-
NM_022041.4(GAN):c.1038G>A (p.Lys346=)	8139	GAN	Likely benign	751149887	RCV001476571;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396168	81396168	81396168	-
NM_022041.4(GAN):c.1045C>G (p.Pro349Ala)	8139	GAN	Uncertain significance	374004725	RCV000706881;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396175	81396175	NC_000016.9:g.81396175C>G	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1045C>T (p.Pro349Ser)	8139	GAN	Uncertain significance	374004725	RCV001909529\|RCV002397895;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81396175	81396175	81396175	-
NM_022041.4(GAN):c.1048G>A (p.Asp350Asn)	8139	GAN	Uncertain significance	-1	RCV003085991;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396178	81396178	NC_000016.9:g.81396178G>A	-
NM_022041.4(GAN):c.1051G>T (p.Ala351Ser)	8139	GAN	Uncertain significance	-1	RCV002755021;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396181	81396181	NC_000016.9:g.81396181G>T	-
NM_022041.4(GAN):c.1059A>G (p.Thr353=)	8139	GAN	Likely benign	1270126640	RCV002177319;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396189	81396189	81396189	-
NM_022041.4(GAN):c.1065A>C (p.Thr355=)	8139	GAN	Likely benign	370426264	RCV000549617\|RCV002413533;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81396195	81396195	NC_000016.9:g.81396195A>C	ClinGen:CA8191591	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1084G>A (p.Glu362Lys)	8139	GAN	Uncertain significance	587779384	RCV000144881\|RCV000560303;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396214	81396214	NC_000016.9:g.81396214G>A	ClinGen:CA270952	C0007959 Charcot-Marie-Tooth disease;
NM_022041.4(GAN):c.1086+1G>C	8139	GAN	Uncertain significance	1597405785	RCV000789627;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396217	81396217	16:g.81396217G>C	-
NM_022041.4(GAN):c.1086+8A>C	8139	GAN	Likely benign	766772301	RCV000919492;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396224	81396224	16:g.81396224A>C	-
NM_022041.4(GAN):c.1086+9C>G	8139	GAN	Likely benign	762904814	RCV000254261\|RCV000960010;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396225	81396225	NC_000016.9:g.81396225C>G	ClinGen:CA8191598	CN169374 not specified;
NM_022041.4(GAN):c.1086+19_1086+22del	8139	GAN	Likely benign	1215210527	RCV002123824;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396228	81396231	81396227	-
NM_022041.4(GAN):c.1086+13T>G	8139	GAN	Likely benign	-1	RCV002852358;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396229	81396229	NC_000016.9:g.81396229T>G	-
NM_022041.4(GAN):c.1086+25_1086+28del	8139	GAN	Benign	561109989	RCV002115863;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396236	81396239	81396235	-
NM_022041.4(GAN):c.1086+71C>T	8139	GAN	Benign	12448327	RCV000789611\|RCV000841652\|RCV003447229;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81396287	81396287	16:g.81396287C>T	-
NM_022041.4(GAN):c.1087-17C>T	8139	GAN	Likely benign	761900137	RCV002137553;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397382	81397382	81397382	-
NM_022041.4(GAN):c.1087-16G>A	8139	GAN	Likely benign	767079895	RCV002098604;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397383	81397383	81397383	-
NM_022041.4(GAN):c.1094A>G (p.His365Arg)	8139	GAN	Uncertain significance	-1	RCV003078629;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397406	81397406	NC_000016.9:g.81397406A>G	-
NM_022041.4(GAN):c.1101C>T (p.Phe367=)	8139	GAN	Likely benign	142479585	RCV000876595;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397413	81397413	16:g.81397413C>T	-
NM_022041.4(GAN):c.1101C>A (p.Phe367Leu)	8139	GAN	Uncertain significance	-1	RCV002979318;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397413	81397413	NC_000016.9:g.81397413C>A	-
NM_022041.4(GAN):c.1102G>A (p.Gly368Arg)	8139	GAN	Uncertain significance	758756818	RCV000789767;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397414	81397414	16:g.81397414G>A	-
NM_022041.4(GAN):c.1118A>T (p.Asp373Val)	8139	GAN	Uncertain significance	-1	RCV002619231;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397430	81397430	NC_000016.9:g.81397430A>T	-
NM_022041.4(GAN):c.1123A>T (p.Met375Leu)	8139	GAN	Uncertain significance	201252856	RCV001121552;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397435	81397435	16:g.81397435A>T	-
NM_022041.4(GAN):c.1123A>G (p.Met375Val)	8139	GAN	Uncertain significance	201252856	RCV001937678;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397435	81397435	81397435	-
NM_022041.4(GAN):c.1139G>T (p.Gly380Val)	8139	GAN	Uncertain significance	1427637335	RCV000694625\|RCV003320728;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN517202	16	81397451	81397451	16:g.81397451G>T	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1147G>A (p.Asp383Asn)	8139	GAN	Uncertain significance	181568741	RCV002015024;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397459	81397459	81397459	-
NM_022041.4(GAN):c.1148A>T (p.Asp383Val)	8139	GAN	Uncertain significance	768562044	RCV000641263;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397460	81397460	NC_000016.9:g.81397460A>T	ClinGen:CA8191636	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1157del (p.Lys386fs)	8139	GAN	Pathogenic	1555511861	RCV000534049;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397466	81397466	NC_000016.9:g.81397469del	ClinGen:CA658658505	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1162C>T (p.Leu388=)	8139	GAN	Conflicting interpretations of pathogenicity	73589395	RCV000726330\|RCV001087132\|RCV002356393;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81397474	81397474	16:g.81397474C>T	ClinGen:CA8191637	CN169374 not specified;
NM_022041.4(GAN):c.1162del (p.Glu387_Leu388insTer)	8139	GAN	Pathogenic	1910760503	RCV001293031;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397474	81397474	81397473	-
NM_022041.4(GAN):c.1165A>T (p.Ile389Phe)	8139	GAN	Uncertain significance	1471052510	RCV000527079;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397477	81397477	16:g.81397477A>T	ClinGen:CA396890616	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1170C>T (p.Ser390=)	8139	GAN	Likely benign	761777220	RCV002176677;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397482	81397482	81397482	-
NM_022041.4(GAN):c.1171A>G (p.Met391Val)	8139	GAN	Uncertain significance	367600164	RCV000522691\|RCV001309607;	N	MedGen:CN517202\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397483	81397483	16:g.81397483A>G	ClinGen:CA8191639	CN169374 not specified;
NM_022041.4(GAN):c.1177T>C (p.Cys393Arg)	8139	GAN	Uncertain significance	-1	RCV003051387;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397489	81397489	NC_000016.9:g.81397489T>C	-
NM_022041.4(GAN):c.1178G>A (p.Cys393Tyr)	8139	GAN	Uncertain significance	951138056	RCV001246372;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397490	81397490	16:g.81397490G>A	-
NM_022041.4(GAN):c.1179T>A (p.Cys393Ter)	8139	GAN	Uncertain significance	1597406427	RCV000789632;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397491	81397491	16:g.81397491T>A	-
NM_022041.4(GAN):c.1182C>T (p.Tyr394=)	8139	GAN	Benign/Likely benign	150102659	RCV000538954\|RCV001675920\|RCV002330882;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	81397494	81397494	16:g.81397494C>T	ClinGen:CA8191640	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1182C>A (p.Tyr394Ter)	8139	GAN	Pathogenic	-1	RCV002819476;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397494	81397494	NC_000016.9:g.81397494C>A	-
NM_022041.4(GAN):c.1183G>C (p.Asp395His)	8139	GAN	Uncertain significance	142456623	RCV000365462;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397495	81397495	NC_000016.9:g.81397495G>C	ClinGen:CA8191641	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1183G>A (p.Asp395Asn)	8139	GAN	Uncertain significance	142456623	RCV001067843\|RCV002327352;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81397495	81397495	16:g.81397495G>A	-
NM_022041.4(GAN):c.1191T>A (p.Tyr397Ter)	8139	GAN	Pathogenic	-1	RCV002891149;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397503	81397503	NC_000016.9:g.81397503T>A	-
NM_022041.4(GAN):c.1193C>G (p.Ser398Cys)	8139	GAN	Uncertain significance	1334144379	RCV001362119;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397505	81397505	81397505	-
NM_022041.4(GAN):c.1195A>G (p.Lys399Glu)	8139	GAN	Uncertain significance	368231984	RCV000698662;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397507	81397507	16:g.81397507A>G	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1199C>G (p.Thr400Ser)	8139	GAN	Uncertain significance	368571975	RCV000686190\|RCV002343432;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81397511	81397511	16:g.81397511C>G	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1199C>T (p.Thr400Ile)	8139	GAN	Uncertain significance	368571975	RCV001982799;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397511	81397511	81397511	-
NM_022041.4(GAN):c.1203G>A (p.Trp401Ter)	8139	GAN	Uncertain significance	1349484624	RCV000789628;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397515	81397515	16:g.81397515G>A	-
NM_022041.4(GAN):c.1205C>T (p.Thr402Ile)	8139	GAN	Uncertain significance	-1	RCV002810075;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397517	81397517	NC_000016.9:g.81397517C>T	-
NM_022041.4(GAN):c.1208A>G (p.Lys403Arg)	8139	GAN	Uncertain significance	780241559	RCV001068465;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397520	81397520	16:g.81397520A>G	-
NM_022041.4(GAN):c.1210C>G (p.Gln404Glu)	8139	GAN	Uncertain significance	1190709905	RCV000641261;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397522	81397522	NC_000016.9:g.81397522C>G	ClinGen:CA396890713	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1212A>G (p.Gln404=)	8139	GAN	Likely benign	1273605833	RCV001506633;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397524	81397524	81397524	-
NM_022041.4(GAN):c.1213C>A (p.Pro405Thr)	8139	GAN	Uncertain significance	912274293	RCV001978813;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397525	81397525	81397525	-
NM_022041.4(GAN):c.1220T>C (p.Leu407Ser)	8139	GAN	Uncertain significance	-1	RCV002872837;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397532	81397532	NC_000016.9:g.81397532T>C	-
NM_022041.4(GAN):c.1228G>A (p.Val410Ile)	8139	GAN	Uncertain significance	-1	RCV003047978;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397540	81397540	NC_000016.9:g.81397540G>A	-
NM_022041.4(GAN):c.1229T>G (p.Val410Gly)	8139	GAN	Uncertain significance	1484191388	RCV001059511;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397541	81397541	16:g.81397541T>G	-
NM_022041.4(GAN):c.1236+7A>T	8139	GAN	Uncertain significance	1910763781	RCV002047094;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397555	81397555	81397555	-
NM_022041.4(GAN):c.1236+11C>T	8139	GAN	Likely benign	760722729	RCV002203860;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81397559	81397559	81397559	-
NM_022041.4(GAN):c.1237-1G>A	8139	GAN	Uncertain significance	1597407007	RCV000789130;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398578	81398578	16:g.81398578G>A	-
NM_022041.4(GAN):c.1239C>T (p.Ile413=)	8139	GAN	Benign/Likely benign	61740238	RCV000245021\|RCV000548826\|RCV001697724;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81398581	81398581	16:g.81398581C>T	ClinGen:CA8191687	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1240G>A (p.Gly414Ser)	8139	GAN	Uncertain significance	-1	RCV002380067\|RCV003098536;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398582	81398582	81398582	-
NM_022041.4(GAN):c.1241G>A (p.Gly414Asp)	8139	GAN	Uncertain significance	761827117	RCV000235561\|RCV001306610;	N	MedGen:CN517202\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398583	81398583	16:g.81398583G>A	ClinGen:CA10584539	CN169374 not specified;
NM_022041.4(GAN):c.1245C>T (p.Cys415=)	8139	GAN	Likely benign	754447332	RCV001424986;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398587	81398587	81398587	-
NM_022041.4(GAN):c.1248T>C (p.Tyr416=)	8139	GAN	Likely benign	2150691593	RCV001412456;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398590	81398590	81398590	-
NM_022041.4(GAN):c.1251A>G (p.Ala417=)	8139	GAN	Likely benign	765463525	RCV001452175;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398593	81398593	81398593	-
NM_022041.4(GAN):c.1252G>C (p.Ala418Pro)	8139	GAN	Uncertain significance	752800283	RCV000688570;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398594	81398594	NC_000016.9:g.81398594G>C	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1263_1264del (p.Lys422fs)	8139	GAN	Likely pathogenic	2150691608	RCV001782173;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398604	81398605	81398603	-
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr)	8139	GAN	Uncertain significance	119485091	RCV000005337;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398610	81398610	16:g.81398610T>C	ClinGen:CA253398,UniProtKB:Q9H2C0#VAR_015560,OMIM:605379.0005	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1273G>A (p.Ala425Thr)	8139	GAN	Uncertain significance	-1	RCV002378849\|RCV003103565;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398615	81398615	81398615	-
NM_022041.4(GAN):c.1276A>G (p.Met426Val)	8139	GAN	Uncertain significance	757050107	RCV001960113;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398618	81398618	81398618	-
NM_022041.4(GAN):c.1287C>G (p.Gly429=)	8139	GAN	Likely benign	563049431	RCV000249990\|RCV001398451\|RCV002379087;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81398629	81398629	16:g.81398629C>G	ClinGen:CA10587250	CN169374 not specified;
NM_022041.4(GAN):c.1287C>T (p.Gly429=)	8139	GAN	Likely benign	563049431	RCV001478567;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398629	81398629	16:g.81398629C>T	-
NM_022041.4(GAN):c.1293C>T (p.Tyr431=)	8139	GAN	Benign	2608555	RCV000117118\|RCV000396998\|RCV001534873;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81398635	81398635	16:g.81398635C>T	ClinGen:CA152934	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1310C>G (p.Ser437Cys)	8139	GAN	Uncertain significance	1464376673	RCV001985751;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398652	81398652	81398652	-
NM_022041.4(GAN):c.1312G>A (p.Val438Ile)	8139	GAN	Uncertain significance	1246053880	RCV000789136\|RCV003447178;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398654	81398654	16:g.81398654G>A	-
NM_022041.4(GAN):c.1315G>A (p.Glu439Lys)	8139	GAN	Uncertain significance	2150691652	RCV001765139\|RCV002540234;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398657	81398657	81398657	-
NM_022041.4(GAN):c.1323T>C (p.Tyr441=)	8139	GAN	Conflicting interpretations of pathogenicity	368072478	RCV000865457\|RCV001532284;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81398665	81398665	16:g.81398665T>C	-
NM_022041.4(GAN):c.1327C>G (p.Pro443Ala)	8139	GAN	Uncertain significance	150043237	RCV000702961\|RCV001558030\|RCV002386258;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	81398669	81398669	NC_000016.9:g.81398669C>G	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1327C>A (p.Pro443Thr)	8139	GAN	Uncertain significance	150043237	RCV000804999\|RCV002381767;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81398669	81398669	16:g.81398669C>A	-
NM_022041.4(GAN):c.1329C>T (p.Pro443=)	8139	GAN	Likely benign	-1	RCV003068817;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398671	81398671		-
NM_022041.4(GAN):c.1330A>C (p.Arg444=)	8139	GAN	Likely benign	2150691667	RCV002128544;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398672	81398672	81398672	-
NM_022041.4(GAN):c.1332G>A (p.Arg444=)	8139	GAN	Likely benign	-1	RCV002914628;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398674	81398674		-
NM_022041.4(GAN):c.1334C>T (p.Thr445Ile)	8139	GAN	Uncertain significance	-1	RCV002780304\|RCV003269276;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81398676	81398676	NC_000016.9:g.81398676C>T	-
NM_022041.4(GAN):c.1335C>T (p.Thr445=)	8139	GAN	Likely benign	752853627	RCV002160996;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398677	81398677	81398677	-
NM_022041.4(GAN):c.1343G>T (p.Trp448Leu)	8139	GAN	Uncertain significance	1597407111	RCV000789140;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398685	81398685	16:g.81398685G>T	-
NM_022041.4(GAN):c.1360C>G (p.Leu454Val)	8139	GAN	Uncertain significance	-1	RCV003082950;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398702	81398702	NC_000016.9:g.81398702C>G	-
NM_022041.4(GAN):c.1367_1369del (p.Glu456_Arg457delinsGly)	8139	GAN	Uncertain significance	1910807452	RCV001313960;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398709	81398711	81398708	-
NM_022041.4(GAN):c.1368G>C (p.Glu456Asp)	8139	GAN	Uncertain significance	1034754708	RCV001919806\|RCV002386681;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81398710	81398710	81398710	-
NM_022041.4(GAN):c.1373+1G>A	8139	GAN	Pathogenic	1597407138	RCV000850555;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398716	81398716	16:g.81398716G>A	-
NM_022041.4(GAN):c.1373+4C>G	8139	GAN	Uncertain significance	137934652	RCV001070025;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398719	81398719	16:g.81398719C>G	-
NM_022041.4(GAN):c.1373+4C>T	8139	GAN	Uncertain significance	137934652	RCV001221901\|RCV002379839;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81398719	81398719	16:g.81398719C>T	-
NM_022041.4(GAN):c.1373+5G>A	8139	GAN	Uncertain significance	370881573	RCV000549181;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398720	81398720	16:g.81398720G>A	ClinGen:CA8191718	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1373+14G>A	8139	GAN	Likely benign	2150691717	RCV002210849;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398729	81398729	81398729	-
NM_022041.4(GAN):c.1373+18G>A	8139	GAN	Benign	187260981	RCV002097965;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398733	81398733	81398733	-
NM_022041.4(GAN):c.1374-19G>A	8139	GAN	Likely benign	774299994	RCV002080746;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398936	81398936	81398936	-
NM_022041.4(GAN):c.1374-18C>T	8139	GAN	Likely benign	761982534	RCV002167549;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398937	81398937	81398937	-
NM_022041.4(GAN):c.1381G>A (p.Ala461Thr)	8139	GAN	Uncertain significance	766155831	RCV000704792\|RCV003320734;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN517202	16	81398962	81398962	16:g.81398962G>A	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1381_1382delinsTT (p.Ala461Leu)	8139	GAN	Uncertain significance	1597407293	RCV000798891;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398962	81398963	NC_000016.9:g.81398962_81398963delinsTT	-
NM_022041.4(GAN):c.1382C>A (p.Ala461Glu)	8139	GAN	Uncertain significance	753748994	RCV000641259;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398963	81398963	NC_000016.9:g.81398963C>A	ClinGen:CA396891273	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1382C>T (p.Ala461Val)	8139	GAN	Uncertain significance	753748994	RCV001347592;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398963	81398963	81398963	-
NM_022041.4(GAN):c.1383G>A (p.Ala461=)	8139	GAN	Likely benign	147725941	RCV000960339;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398964	81398964	16:g.81398964G>A	-
NM_022041.4(GAN):c.1384G>A (p.Val462Met)	8139	GAN	Uncertain significance	199870222	RCV001339771;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398965	81398965	81398965	-
NM_022041.4(GAN):c.1387G>A (p.Ala463Thr)	8139	GAN	Pathogenic	-1	RCV003129576;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398968	81398968	NC_000016.9:g.81398968G>A	-
NM_022041.4(GAN):c.1388C>T (p.Ala463Val)	8139	GAN	Uncertain significance	200342055	RCV001070450\|RCV002393338;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81398969	81398969	16:g.81398969C>T	-
NM_022041.4(GAN):c.1391G>A (p.Cys464Tyr)	8139	GAN	Uncertain significance	777535272	RCV000641260\|RCV001756070;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81398972	81398972	NC_000016.9:g.81398972G>A	ClinGen:CA8191757	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1398T>C (p.Val466=)	8139	GAN	Uncertain significance	756485979	RCV001116669;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398979	81398979	16:g.81398979T>C	-
NM_022041.4(GAN):c.1402A>G (p.Met468Val)	8139	GAN	Uncertain significance	375408288	RCV001924044;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398983	81398983	81398983	-
NM_022041.4(GAN):c.1402A>T (p.Met468Leu)	8139	GAN	Uncertain significance	375408288	RCV001964823;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398983	81398983	81398983	-
NM_022041.4(GAN):c.1408C>T (p.Leu470=)	8139	GAN	Likely benign	-1	RCV002856155;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398989	81398989		-
NM_022041.4(GAN):c.1410G>C (p.Leu470=)	8139	GAN	Likely benign	1365354116	RCV001463692;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398991	81398991	81398991	-
NM_022041.4(GAN):c.1412A>G (p.Tyr471Cys)	8139	GAN	Uncertain significance	769076379	RCV001058356;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398993	81398993	16:g.81398993A>G	-
NM_022041.4(GAN):c.1412A>T (p.Tyr471Phe)	8139	GAN	Uncertain significance	769076379	RCV001342750;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398993	81398993	81398993	-
NM_022041.4(GAN):c.1416G>A (p.Val472=)	8139	GAN	Likely benign	998119133	RCV001311453\|RCV002071866;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398997	81398997	81398997	-
NM_022041.4(GAN):c.1417T>C (p.Phe473Leu)	8139	GAN	Uncertain significance	-1	RCV003027956;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398998	81398998	NC_000016.9:g.81398998T>C	-
NM_022041.4(GAN):c.1418T>C (p.Phe473Ser)	8139	GAN	Uncertain significance	1910819905	RCV001042364;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81398999	81398999	16:g.81398999T>C	-
NM_022041.4(GAN):c.1420G>C (p.Gly474Arg)	8139	GAN	Uncertain significance	1435035575	RCV000789629;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399001	81399001	16:g.81399001G>C	-
NM_022041.4(GAN):c.1428C>T (p.Val476=)	8139	GAN	Likely benign	-1	RCV003108300;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399009	81399009		-
NM_022041.4(GAN):c.1429C>T (p.Arg477Ter)	8139	GAN	Conflicting interpretations of pathogenicity	119485094	RCV000005340;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399010	81399010	16:g.81399010C>T	ClinGen:CA253404,OMIM:605379.0008	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1430G>A (p.Arg477Gln)	8139	GAN	Uncertain significance	748209210	RCV000687578;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399011	81399011	16:g.81399011G>A	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1436G>A (p.Arg479His)	8139	GAN	Uncertain significance	750919773	RCV001240044\|RCV002393614;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81399017	81399017	16:g.81399017G>A	-
NM_022041.4(GAN):c.1442A>G (p.Asp481Gly)	8139	GAN	Uncertain significance	1713848888	RCV001987096;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399023	81399023	81399023	-
NM_022041.4(GAN):c.1442A>T (p.Asp481Val)	8139	GAN	Uncertain significance	1713848888	RCV001875389;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399023	81399023	81399023	-
NM_022041.4(GAN):c.1444G>A (p.Ala482Thr)	8139	GAN	Uncertain significance	369693274	RCV000641254\|RCV002388080;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81399025	81399025	NC_000016.9:g.81399025G>A	ClinGen:CA8191765	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)	8139	GAN	Conflicting interpretations of pathogenicity	146576740	RCV000755274\|RCV000999842\|RCV002392781;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81399026	81399026	16:g.81399026C>T	ClinGen:CA8191766	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1446C>G (p.Ala482=)	8139	GAN	Likely benign	766129455	RCV002075456;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399027	81399027	81399027	-
NM_022041.4(GAN):c.1447C>T (p.Gln483Ter)	8139	GAN	Conflicting interpretations of pathogenicity	119485089	RCV000005334;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399028	81399028	16:g.81399028C>T	ClinGen:CA253392,OMIM:605379.0002	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)	8139	GAN	Pathogenic/Likely pathogenic	119485088	RCV000005333\|RCV002390092;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81399037	81399037	16:g.81399037G>A	ClinGen:CA253390,UniProtKB:Q9H2C0#VAR_010757,OMIM:605379.0001	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1474T>G (p.Ser492Ala)	8139	GAN	Uncertain significance	1597407371	RCV000807359;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399055	81399055	16:g.81399055T>G	-
NM_022041.4(GAN):c.1476C>T (p.Ser492=)	8139	GAN	Likely benign	756866064	RCV000976833;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399057	81399057	16:g.81399057C>T	-
NM_022041.4(GAN):c.1477G>A (p.Glu493Lys)	8139	GAN	Uncertain significance	780427229	RCV000641262;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399058	81399058	16:g.81399058G>A	ClinGen:CA8191776	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter)	8139	GAN	Pathogenic	2150691981	RCV001380856;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399066	81399066	81399066	-
NM_022041.4(GAN):c.1494G>C (p.Glu498Asp)	8139	GAN	Uncertain significance	755423556	RCV000821442;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399075	81399075	16:g.81399075G>C	-
NM_022041.4(GAN):c.1494G>A (p.Glu498=)	8139	GAN	Likely benign	755423556	RCV001452955;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399075	81399075	81399075	-
NM_022041.4(GAN):c.1499A>G (p.Lys500Arg)	8139	GAN	Uncertain significance	199515586	RCV001297951\|RCV002543061;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81399080	81399080	81399080	-
NM_022041.4(GAN):c.1502+1G>T	8139	GAN	Pathogenic/Likely pathogenic	1555511978	RCV000542728\|RCV002287422;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|	16	81399084	81399084	16:g.81399084G>T	ClinGen:CA396891532	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1502+4A>G	8139	GAN	Uncertain significance	748724208	RCV000641258;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399087	81399087	16:g.81399087A>G	ClinGen:CA8191780	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1502+11A>G	8139	GAN	Benign/Likely benign	143413333	RCV001720152\|RCV002062517;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399094	81399094	16:g.81399094A>G	ClinGen:CA8191784	CN169374 not specified;
NM_022041.4(GAN):c.1502+14G>T	8139	GAN	Likely benign	1173298687	RCV002178410;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81399097	81399097	81399097	-
NM_022041.4(GAN):c.1503-16T>C	8139	GAN	Likely benign	-1	RCV002903960;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410808	81410808	NC_000016.9:g.81410808T>C	-
NM_022041.4(GAN):c.1503-8G>A	8139	GAN	Likely benign	-1	RCV002876360;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410816	81410816	NC_000016.9:g.81410816G>A	-
NM_022041.4(GAN):c.1503-7T>C	8139	GAN	Likely benign	1387006177	RCV001396251;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410817	81410817	16:g.81410817T>C	-
NM_022041.4(GAN):c.1503-6T>C	8139	GAN	Likely benign	-1	RCV002791574;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410818	81410818	NC_000016.9:g.81410818T>C	-
NM_022041.4(GAN):c.1503-2A>G	8139	GAN	Uncertain significance	-1	RCV003226135;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410822	81410822		-
NM_022041.4(GAN):c.1505G>A (p.Trp502Ter)	8139	GAN	Uncertain significance	1597414001	RCV000789124;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410826	81410826	16:g.81410826G>A	-
NM_022041.4(GAN):c.1506G>T (p.Trp502Cys)	8139	GAN	Uncertain significance	1324877107	RCV000694391;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410827	81410827	16:g.81410827G>T	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys)	8139	GAN	Uncertain significance	147864771	RCV000641253\|RCV002388079;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81410832	81410832	NC_000016.9:g.81410832A>G	ClinGen:CA8191805	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1518C>T (p.Asn506=)	8139	GAN	Conflicting interpretations of pathogenicity	886052333	RCV000302672\|RCV002392869\|RCV003422273;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	16	81410839	81410839	NC_000016.9:g.81410839C>T	ClinGen:CA10649019	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1519G>A (p.Asp507Asn)	8139	GAN	Uncertain significance	775432106	RCV001910224;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410840	81410840	81410840	-
NM_022041.4(GAN):c.1521C>T (p.Asp507=)	8139	GAN	Likely benign	-1	RCV003077435;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410842	81410842		-
NM_022041.4(GAN):c.1525A>C (p.Asn509His)	8139	GAN	Uncertain significance	-1	RCV003045663;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410846	81410846	NC_000016.9:g.81410846A>C	-
NM_022041.4(GAN):c.1529T>G (p.Leu510Ter)	8139	GAN	Uncertain significance	-1	RCV003447403;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410850	81410850		-
NM_022041.4(GAN):c.1537C>G (p.Pro513Ala)	8139	GAN	Uncertain significance	-1	RCV003083109;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410858	81410858	NC_000016.9:g.81410858C>G	-
NM_022041.4(GAN):c.1539C>T (p.Pro513=)	8139	GAN	Likely benign	774396975	RCV001475536;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410860	81410860	81410860	-
NM_022041.4(GAN):c.1540G>C (p.Ala514Pro)	8139	GAN	Uncertain significance	761202265	RCV002013878;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410861	81410861	81410861	-
NM_022041.4(GAN):c.1544G>C (p.Ser515Thr)	8139	GAN	Uncertain significance	2150698818	RCV002019771;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410865	81410865	81410865	-
NM_022041.4(GAN):c.1549T>C (p.Ser517Pro)	8139	GAN	Uncertain significance	1567501233	RCV000693035;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410870	81410870	16:g.81410870T>C	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1553_1554del (p.Phe518fs)	8139	GAN	Uncertain significance	1597414034	RCV000789639;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410872	81410873	16:g.81410872_81410873del	-
NM_022041.4(GAN):c.1560T>C (p.Tyr520=)	8139	GAN	Likely benign	2150698823	RCV002166098;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410881	81410881	81410881	-
NM_022041.4(GAN):c.1565C>T (p.Ala522Val)	8139	GAN	Uncertain significance	1904284654	RCV001243282;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410886	81410886	16:g.81410886C>T	-
NM_022041.4(GAN):c.1577G>T (p.Gly526Val)	8139	GAN	Uncertain significance	1904284720	RCV001061636;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410898	81410898	16:g.81410898G>T	-
NM_022041.4(GAN):c.1590T>C (p.Tyr530=)	8139	GAN	Likely benign	1474222234	RCV000552934\|RCV002404451;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81410911	81410911	16:g.81410911T>C	ClinGen:CA496993259	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1593T>A (p.Val531=)	8139	GAN	Likely benign	141592516	RCV000614614\|RCV001486614;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410914	81410914	16:g.81410914T>A	ClinGen:CA8191815	CN169374 not specified;
NM_022041.4(GAN):c.1593T>G (p.Val531=)	8139	GAN	Likely benign	141592516	RCV000641264\|RCV002397226;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81410914	81410914	NC_000016.9:g.81410914T>G	ClinGen:CA8191814	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1596T>C (p.Ile532=)	8139	GAN	Likely benign	371157573	RCV000531220\|RCV002404452;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81410917	81410917	16:g.81410917T>C	ClinGen:CA285124381	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1612+4A>G	8139	GAN	Uncertain significance	376218401	RCV001070432;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410937	81410937	16:g.81410937A>G	-
NM_022041.4(GAN):c.1612+7G>A	8139	GAN	Likely benign	-1	RCV003043474;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410940	81410940	NC_000016.9:g.81410940G>A	-
NM_022041.4(GAN):c.1612+12A>G	8139	GAN	Conflicting interpretations of pathogenicity	150344737	RCV000362071\|RCV000433445\|RCV001699366;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:CN169374\|MedGen:C3661900	16	81410945	81410945	NC_000016.9:g.81410945A>G	ClinGen:CA8191822	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1612+13C>G	8139	GAN	Benign	80326128	RCV000440032\|RCV002062464;	N	MedGen:CN169374\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410946	81410946	16:g.81410946C>G	ClinGen:CA8191823	CN169374 not specified;
NM_022041.4(GAN):c.1612+15G>T	8139	GAN	Likely benign	-1	RCV002592737;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81410948	81410948	NC_000016.9:g.81410948G>T	-
NM_022041.4(GAN):c.1616C>G (p.Thr539Ser)	8139	GAN	Uncertain significance	-1	RCV002630985;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411023	81411023	NC_000016.9:g.81411023C>G	-
NM_022041.4(GAN):c.1624G>A (p.Asp542Asn)	8139	GAN	Uncertain significance	747972511	RCV001322472;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411031	81411031	81411031	-
NM_022041.4(GAN):c.1628A>G (p.Tyr543Cys)	8139	GAN	Uncertain significance	879253958	RCV000236580\|RCV001297283;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411035	81411035	16:g.81411035A>G	ClinGen:CA10584541	CN169374 not specified;
NM_022041.4(GAN):c.1629C>T (p.Tyr543=)	8139	GAN	Likely benign	772065469	RCV001444913;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411036	81411036	16:g.81411036C>T	-
NM_022041.4(GAN):c.1630G>A (p.Val544Met)	8139	GAN	Uncertain significance	200071978	RCV000220782\|RCV000260362\|RCV002399793;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81411037	81411037	NC_000016.9:g.81411037G>A	ClinGen:CA8191848	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1633C>T (p.Arg545Cys)	8139	GAN	Uncertain significance	112201678	RCV000789763;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411040	81411040	16:g.81411040C>T	-
NM_022041.4(GAN):c.1634G>T (p.Arg545Leu)	8139	GAN	Uncertain significance	746486469	RCV000541386;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411041	81411041	16:g.81411041G>T	ClinGen:CA396892299	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1634G>A (p.Arg545His)	8139	GAN	Uncertain significance	746486469	RCV000789127;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411041	81411041	16:g.81411041G>A	-
NM_022041.4(GAN):c.1651A>G (p.Thr551Ala)	8139	GAN	Uncertain significance	-1	RCV002828776;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411058	81411058	NC_000016.9:g.81411058A>G	-
NM_022041.4(GAN):c.1658C>A (p.Thr553Asn)	8139	GAN	Uncertain significance	759200321	RCV001318643;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411065	81411065	81411065	-
NM_022041.4(GAN):c.1658C>G (p.Thr553Ser)	8139	GAN	Uncertain significance	759200321	RCV001891216;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411065	81411065	81411065	-
NM_022041.4(GAN):c.1658C>T (p.Thr553Ile)	8139	GAN	Uncertain significance	-1	RCV002680841;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411065	81411065	NC_000016.9:g.81411065C>T	-
NM_022041.4(GAN):c.1665C>G (p.His555Gln)	8139	GAN	Uncertain significance	886052334	RCV000317844\|RCV002402033;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81411072	81411072	NC_000016.9:g.81411072C>G	ClinGen:CA10648111	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1670C>G (p.Thr557Ser)	8139	GAN	Pathogenic	-1	RCV003129577;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411077	81411077	NC_000016.9:g.81411077C>G	-
NM_022041.4(GAN):c.1678C>T (p.Leu560Phe)	8139	GAN	Uncertain significance	143179676	RCV001567947\|RCV002414270\|RCV001859415;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411085	81411085	81411085	-
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)	8139	GAN	Benign/Likely benign	79901179	RCV000416130\|RCV000555529;	N	MedGen:C3661900\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411091	81411091	16:g.81411091C>G	ClinGen:CA8191858	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1686A>C (p.Pro562=)	8139	GAN	Likely benign	1306397594	RCV001495801;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411093	81411093	16:g.81411093A>C	-
NM_022041.4(GAN):c.1688C>G (p.Ser563Cys)	8139	GAN	Uncertain significance	1378724061	RCV001327617;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411095	81411095	81411095	-
NM_022041.4(GAN):c.1689C>T (p.Ser563=)	8139	GAN	Likely benign	375075356	RCV001452441;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411096	81411096	16:g.81411096C>T	-
NM_022041.4(GAN):c.1689C>A (p.Ser563=)	8139	GAN	Uncertain significance	-1	RCV002922553;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411096	81411096		-
NM_022041.4(GAN):c.1690dup (p.Asp564fs)	8139	GAN	Uncertain significance	-1	RCV003388650;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411096	81411097		-
NM_022041.4(GAN):c.1690G>C (p.Asp564His)	8139	GAN	Uncertain significance	755259336	RCV001987118;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411097	81411097	81411097	-
NM_022041.4(GAN):c.1697G>A (p.Arg566His)	8139	GAN	Uncertain significance	-1	RCV002894976;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411104	81411104	NC_000016.9:g.81411104G>A	-
NM_022041.4(GAN):c.1699C>A (p.Arg567Ser)	8139	GAN	Uncertain significance	886052335	RCV000356227;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411106	81411106	NC_000016.9:g.81411106C>A	ClinGen:CA10638441	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1699C>T (p.Arg567Cys)	8139	GAN	Uncertain significance	886052335	RCV002009178;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411106	81411106	81411106	-
NM_022041.4(GAN):c.1703C>T (p.Thr568Ile)	8139	GAN	Uncertain significance	2150698993	RCV001902623;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411110	81411110	81411110	-
NM_022041.4(GAN):c.1707A>G (p.Gly569=)	8139	GAN	Uncertain significance	942456904	RCV001045588;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411114	81411114	16:g.81411114A>G	-
NM_022041.4(GAN):c.1709G>A (p.Cys570Tyr)	8139	GAN	Uncertain significance	1597414244	RCV000789638;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411116	81411116	16:g.81411116G>A	-
NM_022041.4(GAN):c.1713A>T (p.Ala571=)	8139	GAN	Likely benign	-1	RCV002943310;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411120	81411120		-
NM_022041.4(GAN):c.1714G>C (p.Ala572Pro)	8139	GAN	Uncertain significance	554430005	RCV001042350;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411121	81411121	16:g.81411121G>C	-
NM_022041.4(GAN):c.1715C>G (p.Ala572Gly)	8139	GAN	Uncertain significance	778978997	RCV001239518\|RCV002402757;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81411122	81411122	16:g.81411122C>G	-
NM_022041.4(GAN):c.1716C>G (p.Ala572=)	8139	GAN	Likely benign	1434797669	RCV001456452;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411123	81411123	16:g.81411123C>G	-
NM_022041.4(GAN):c.1720C>T (p.Arg574Cys)	8139	GAN	Uncertain significance	1567501486	RCV000679992;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411127	81411127	16:g.81411127C>T	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1721G>A (p.Arg574His)	8139	GAN	Uncertain significance	1394459173	RCV001877611;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411128	81411128	81411128	-
NM_022041.4(GAN):c.1723A>G (p.Ile575Val)	8139	GAN	Uncertain significance	-1	RCV002805458;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411130	81411130	NC_000016.9:g.81411130A>G	-
NM_022041.4(GAN):c.1723A>T (p.Ile575Phe)	8139	GAN	Uncertain significance	-1	RCV003029077;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411130	81411130	NC_000016.9:g.81411130A>T	-
NM_022041.4(GAN):c.1727C>T (p.Ala576Val)	8139	GAN	Uncertain significance	-1	RCV003064800;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411134	81411134	NC_000016.9:g.81411134C>T	-
NM_022041.4(GAN):c.1728G>C (p.Ala576=)	8139	GAN	Benign	150342446	RCV000967015;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411135	81411135	16:g.81411135G>C	-
NM_022041.4(GAN):c.1734C>G (p.Cys578Trp)	8139	GAN	Uncertain significance	1904285898	RCV001222690;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411141	81411141	16:g.81411141C>G	-
NM_022041.4(GAN):c.1744C>T (p.Arg582Cys)	8139	GAN	Uncertain significance	772385806	RCV000689531;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411151	81411151	16:g.81411151C>T	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1745G>A (p.Arg582His)	8139	GAN	Uncertain significance	773845697	RCV001038461;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411152	81411152	16:g.81411152G>A	-
NM_022041.4(GAN):c.1745G>T (p.Arg582Leu)	8139	GAN	Uncertain significance	-1	RCV002800547;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411152	81411152	NC_000016.9:g.81411152G>T	-
NM_022041.4(GAN):c.1748T>C (p.Leu583Pro)	8139	GAN	Uncertain significance	766504625	RCV002036580;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411155	81411155	81411155	-
NM_022041.4(GAN):c.1749G>A (p.Leu583=)	8139	GAN	Likely benign	-1	RCV003018825;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411156	81411156		-
NM_022041.4(GAN):c.1758G>C (p.Gln586His)	8139	GAN	Uncertain significance	-1	RCV002667944\|RCV002685821;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411165	81411165	NC_000016.9:g.81411165G>C	-
NM_022041.4(GAN):c.1771C>T (p.Arg591Cys)	8139	GAN	Uncertain significance	-1	RCV002755972;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411178	81411178	NC_000016.9:g.81411178C>T	-
NM_022041.4(GAN):c.1772G>A (p.Arg591His)	8139	GAN	Uncertain significance	777556243	RCV000798196;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411179	81411179	16:g.81411179G>A	-
NM_022041.4(GAN):c.1777C>T (p.Arg593Cys)	8139	GAN	Uncertain significance	886052336	RCV000263805;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411184	81411184	NC_000016.9:g.81411184C>T	ClinGen:CA10648112	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1778G>A (p.Arg593His)	8139	GAN	Uncertain significance	751430474	RCV001222146\|RCV002562549;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81411185	81411185	16:g.81411185G>A	-
NM_022041.4(GAN):c.1783C>T (p.His595Tyr)	8139	GAN	Uncertain significance	757216350	RCV000703477;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411190	81411190	NC_000016.9:g.81411190C>T	-	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1788C>A (p.Ser596=)	8139	GAN	Likely benign	780630449	RCV001436147;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411195	81411195	81411195	-
NM_022041.4(GAN):c.1792del (p.Ter598GluextTer?)	8139	GAN	Uncertain significance	755084684	RCV001938726\|RCV002397934;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MeSH:D030342,MedGen:C0950123	16	81411198	81411198	81411197	-
NM_022041.4(GAN):c.*1GGA[1] (p.Ter598=)	8139	GAN	Likely benign	781299447	RCV002217960;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411200	81411202	81411199	-
NM_022041.4(GAN):c.*32C>A	8139	GAN	Uncertain significance	200964845	RCV000330563;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411233	81411233	NC_000016.9:g.81411233C>A	ClinGen:CA8191896	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*45T>C	8139	GAN	Uncertain significance	886052337	RCV000387414;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411246	81411246	NC_000016.9:g.81411246T>C	ClinGen:CA10648118	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*48C>T	8139	GAN	Likely benign	182080874	RCV001119652;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411249	81411249	16:g.81411249C>T	-
NM_022041.4(GAN):c.*81T>C	8139	GAN	Benign	78835723	RCV000295485\|RCV001675810;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81411282	81411282	16:g.81411282T>C	ClinGen:CA10644320	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*159C>T	8139	GAN	Benign	76000455	RCV000334053;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411360	81411360	NC_000016.9:g.81411360C>T	ClinGen:CA10649020	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*176G>T	8139	GAN	Uncertain significance	1196229669	RCV001119653;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411377	81411377	16:g.81411377G>T	-
NM_022041.4(GAN):c.*211C>T	8139	GAN	Likely benign	566082565	RCV001119654;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411412	81411412	16:g.81411412C>T	-
NM_022041.4(GAN):c.*214C>T	8139	GAN	Uncertain significance	886052338	RCV000381444;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411415	81411415	NC_000016.9:g.81411415C>T	ClinGen:CA10649021	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*227G>A	8139	GAN	Benign	113970605	RCV001121643\|RCV001538804;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81411428	81411428	16:g.81411428G>A	-
NM_022041.4(GAN):c.*235T>C	8139	GAN	Benign	16955203	RCV000289363\|RCV001642998;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81411436	81411436	16:g.81411436T>C	ClinGen:CA10649022	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*237T>A	8139	GAN	Benign	113064319	RCV001121644\|RCV001713067;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81411438	81411438	16:g.81411438T>A	-
NM_022041.4(GAN):c.*247G>A	8139	GAN	Benign	2216769	RCV000346692\|RCV001672527;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81411448	81411448	16:g.81411448G>A	ClinGen:CA10649023	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*291A>G	8139	GAN	Uncertain significance	541752526	RCV000404207;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411492	81411492	16:g.81411492A>G	ClinGen:CA10649024	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*294A>G	8139	GAN	Benign	16955210	RCV000283568\|RCV001653567;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81411495	81411495	16:g.81411495A>G	ClinGen:CA10644321	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*360G>T	8139	GAN	Uncertain significance	886052339	RCV000340870;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411561	81411561	16:g.81411561G>T	ClinGen:CA10638442	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*360G>A	8139	GAN	Uncertain significance	886052339	RCV001121645;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411561	81411561	16:g.81411561G>A	-
NM_022041.4(GAN):c.*372G>A	8139	GAN	Benign	79192026	RCV000406559;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411573	81411573	16:g.81411573G>A	ClinGen:CA10648121	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*381G>A	8139	GAN	Uncertain significance	886052340	RCV000305860;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411582	81411582	NC_000016.9:g.81411582G>A	ClinGen:CA10644323	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*472C>G	8139	GAN	Benign	1816122	RCV000353280;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411673	81411673	NC_000016.9:g.81411673C>G	ClinGen:CA10644324	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*495G>A	8139	GAN	Uncertain significance	558701236	RCV000395560;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411696	81411696	NC_000016.9:g.81411696G>A	ClinGen:CA10649027	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*544C>G	8139	GAN	Uncertain significance	141552591	RCV000299604;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411745	81411745	NC_000016.9:g.81411745C>G	ClinGen:CA10644326	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*551C>T	8139	GAN	Uncertain significance	886052341	RCV000356752;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411752	81411752	NC_000016.9:g.81411752C>T	ClinGen:CA10648123	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*592T>A	8139	GAN	Benign	1345895	RCV000273804;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411793	81411793	NC_000016.9:g.81411793T>A	ClinGen:CA10648124	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*644T>C	8139	GAN	Uncertain significance	1006920510	RCV001118223;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411845	81411845	16:g.81411845T>C	-
NM_022041.4(GAN):c.*733G>A	8139	GAN	Uncertain significance	530029543	RCV001118224;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411934	81411934	16:g.81411934G>A	-
NM_022041.4(GAN):c.*747G>T	8139	GAN	Likely benign	148581491	RCV001118225;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411948	81411948	16:g.81411948G>T	-
NM_022041.4(GAN):c.*764G>A	8139	GAN	Benign	1934	RCV000331226;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81411965	81411965	NC_000016.9:g.81411965G>A	ClinGen:CA10648125	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*810C>A	8139	GAN	Uncertain significance	886052342	RCV000369618;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412011	81412011	NC_000016.9:g.81412011C>A	ClinGen:CA10649028	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*816T>C	8139	GAN	Uncertain significance	188599282	RCV000276868;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412017	81412017	NC_000016.9:g.81412017T>C	ClinGen:CA10648127	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*964C>G	8139	GAN	Likely benign	535218815	RCV000325476;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412165	81412165	NC_000016.9:g.81412165C>G	ClinGen:CA10644327	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*967G>A	8139	GAN	Benign	12920236	RCV000382338;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412168	81412168	NC_000016.9:g.81412168G>A	ClinGen:CA10644331	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1002T>A	8139	GAN	Uncertain significance	552489170	RCV000290202;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412203	81412203	NC_000016.9:g.81412203T>A	ClinGen:CA10644333	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1029C>T	8139	GAN	Uncertain significance	189688967	RCV001119764;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412230	81412230	16:g.81412230C>T	-
NM_022041.4(GAN):c.*1068T>G	8139	GAN	Benign	57170812	RCV000328879;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412269	81412269	NC_000016.9:g.81412269T>G	ClinGen:CA10644334	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1102A>G	8139	GAN	Uncertain significance	1394891003	RCV001119765;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412303	81412303	16:g.81412303A>G	-
NM_022041.4(GAN):c.*1113G>A	8139	GAN	Benign	114880082	RCV001119766;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412314	81412314	16:g.81412314G>A	-
NM_022041.4(GAN):c.*1138A>G	8139	GAN	Uncertain significance	554886016	RCV001119767;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412339	81412339	16:g.81412339A>G	-
NM_022041.4(GAN):c.*1175C>A	8139	GAN	Likely benign	142989603	RCV000376437;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412376	81412376	NC_000016.9:g.81412376C>A	ClinGen:CA10649030	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1250T>G	8139	GAN	Benign	61096092	RCV000284189;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412451	81412451	NC_000016.9:g.81412451T>G	ClinGen:CA10644335	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1268C>T	8139	GAN	Conflicting interpretations of pathogenicity	182391687	RCV000341664\|RCV002510853;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81412469	81412469	NC_000016.9:g.81412469C>T	ClinGen:CA10638444	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1273G>C	8139	GAN	Benign	75176423	RCV000379871;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412474	81412474	NC_000016.9:g.81412474G>C	ClinGen:CA10644336	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1336G>A	8139	GAN	Uncertain significance	150666164	RCV000279951;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412537	81412537	NC_000016.9:g.81412537G>A	ClinGen:CA10648129	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1368T>C	8139	GAN	Uncertain significance	568868279	RCV000337367;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412569	81412569	NC_000016.9:g.81412569T>C	ClinGen:CA10648130	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1388A>G	8139	GAN	Benign	41484544	RCV000405360;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412589	81412589	NC_000016.9:g.81412589A>G	ClinGen:CA10648131	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1455dup	8139	GAN	Uncertain significance	3214897	RCV000311490;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412646	81412647	NC_000016.9:g.81412656dup	ClinGen:CA10644344	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.1454_1455dup	8139	GAN	Likely benign	3214897	RCV000350286;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412646	81412647	NC_000016.9:g.81412655_81412656dup	ClinGen:CA10649031	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1455del	8139	GAN	Uncertain significance	3214897	RCV000394775;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412647	81412647	NC_000016.9:g.81412656del	ClinGen:CA10644343	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1557C>A	8139	GAN	Uncertain significance	528748555	RCV001121746;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412758	81412758	16:g.81412758C>A	-
NM_022041.4(GAN):c.*1585T>C	8139	GAN	Uncertain significance	886052344	RCV000315168;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412786	81412786	NC_000016.9:g.81412786T>C	ClinGen:CA10644346	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1659del	8139	GAN	Conflicting interpretations of pathogenicity	546229255	RCV000362893\|RCV003422274;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643\|MedGen:C3661900	16	81412853	81412853	NC_000016.9:g.81412860del	ClinGen:CA10638445	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1658T>G	8139	GAN	Benign	16955221	RCV000270777;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412859	81412859	NC_000016.9:g.81412859T>G	ClinGen:CA10644353	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1670C>T	8139	GAN	Uncertain significance	569008014	RCV001116881;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412871	81412871	16:g.81412871C>T	-
NM_022041.4(GAN):c.*1747A>G	8139	GAN	Uncertain significance	886052346	RCV000309437;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81412948	81412948	NC_000016.9:g.81412948A>G	ClinGen:CA10638447	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1817G>C	8139	GAN	Benign	73602873	RCV000366563;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413018	81413018	NC_000016.9:g.81413018G>C	ClinGen:CA10638448	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1820G>A	8139	GAN	Uncertain significance	561770690	RCV001116882;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413021	81413021	16:g.81413021G>A	-
NM_022041.4(GAN):c.*1839G>A	8139	GAN	Likely benign	375907932	RCV000264954;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413040	81413040	NC_000016.9:g.81413040G>A	ClinGen:CA10644354	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1883C>G	8139	GAN	Uncertain significance	76019247	RCV000322419;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413084	81413084	NC_000016.9:g.81413084C>G	ClinGen:CA10649040	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1908A>C	8139	GAN	Benign	11861082	RCV000379407;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413109	81413109	NC_000016.9:g.81413109A>C	ClinGen:CA10648132	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1943T>C	8139	GAN	Uncertain significance	751490334	RCV000267529;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413144	81413144	NC_000016.9:g.81413144T>C	ClinGen:CA10638450	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*1949G>C	8139	GAN	Likely benign	191873952	RCV001118330;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413150	81413150	16:g.81413150G>C	-
NM_022041.4(GAN):c.*2019A>G	8139	GAN	Uncertain significance	886052347	RCV000315611;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413220	81413220	NC_000016.9:g.81413220A>G	ClinGen:CA10648133	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2027T>A	8139	GAN	Uncertain significance	886052348	RCV000373707;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413228	81413228	NC_000016.9:g.81413228T>A	ClinGen:CA10638451	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2125A>G	8139	GAN	Uncertain significance	1904295878	RCV001118331;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413326	81413326	16:g.81413326A>G	-
NM_022041.4(GAN):c.*2188T>C	8139	GAN	Benign	2290949	RCV000281543;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413389	81413389	NC_000016.9:g.81413389T>C	ClinGen:CA10644356	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2280G>C	8139	GAN	Uncertain significance	886052349	RCV000338800;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413481	81413481	NC_000016.9:g.81413481G>C	ClinGen:CA10649042	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2332dup	8139	GAN	Uncertain significance	533512036	RCV000386355;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413521	81413522	16:g.81413521_81413522insT	ClinGen:CA10644359	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2332del	8139	GAN	Uncertain significance	533512036	RCV000294214;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413522	81413522	16:g.81413522_81413522del	ClinGen:CA10644357	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.2321_2322insG	8139	GAN	Likely benign	202192140	RCV000351428;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413522	81413523	NC_000016.9:g.81413522_81413523insG	ClinGen:CA10649045	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2322T>G	8139	GAN	Benign	11862952	RCV000403097;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413523	81413523	NC_000016.9:g.81413523T>G	ClinGen:CA10638453	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2332T>A	8139	GAN	Likely benign	191866467	RCV001119870;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413533	81413533	16:g.81413533T>A	-
NM_022041.4(GAN):c.*2350T>A	8139	GAN	Uncertain significance	369040399	RCV000307228;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413551	81413551	16:g.81413551T>A	ClinGen:CA10649047	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2457T>C	8139	GAN	Uncertain significance	886052352	RCV000345469;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413658	81413658	16:g.81413658T>C	ClinGen:CA10648135	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2485A>G	8139	GAN	Uncertain significance	886052353	RCV000397158;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413686	81413686	16:g.81413686A>G	ClinGen:CA10648136	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2492T>A	8139	GAN	Uncertain significance	886052354	RCV000310383;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413693	81413693	16:g.81413693T>A	ClinGen:CA10649049	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2498T>G	8139	GAN	Benign	2290948	RCV000358119;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413699	81413699	16:g.81413699T>G	ClinGen:CA10649051	C1850386 256850 Giant axonal neuropathy;
NM_022041.4(GAN):c.*2532T>C	8139	GAN	Uncertain significance	528796667	RCV001119871;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413733	81413733	16:g.81413733T>C	-
NM_022041.4(GAN):c.*2584A>G	8139	GAN	Likely benign	117621048	RCV000265953;	N	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850, Orphanet:643	16	81413785	81413785	NC_000016.9:g.81413785A>G	ClinGen:CA10648138	C1850386 256850 Giant axonal neuropathy;

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