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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: Charcot-Marie-Tooth Disease (D002607)
..Starting node ..Charcot-Marie-Tooth Disease, Type 4H (C563740)
Child Nodes:
Sister Nodes:
..Charcot Marie Tooth type 1 aplasia cutis congenita (C538077)
..Charcot-Marie-Tooth disease and deafness (C538078)
..Charcot-Marie-Tooth disease with ptosis and parkinsonism (C538079)
..Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k (C564325)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
..Charcot-Marie-Tooth Disease, Axonal, Type 2a1 (C566138)
..Charcot-Marie-Tooth Disease, Axonal, Type 2A2 (C563757) L: 00488;
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
..Charcot-Marie-Tooth Disease, Axonal, Type 2n (C567653)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
..Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
..Charcot-Marie-Tooth disease, dominant intermediate 1 (C535399)
..Charcot-Marie-Tooth disease, dominant intermediate 2 (C535400)
..Charcot-Marie-Tooth disease, dominant intermediate 3 (C535401)
..Charcot-Marie-Tooth Disease, Dominant Intermediate A (C564702)
..Charcot-Marie-Tooth Disease, Dominant Intermediate B (C564703)
..Charcot-Marie-Tooth Disease, Dominant Intermediate C (C564257)
..Charcot-Marie-Tooth Disease, Dominant Intermediate D (C564333)
..CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
..CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
..Charcot-Marie-Tooth Disease, Foot Deformity of (C564179)
..Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type (C566137)
..Charcot-Marie-Tooth Disease, Recessive Intermediate A (C564256)
..CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
..CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
..CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
..Charcot-Marie-Tooth disease, Type 1C (C537984)
..Charcot-Marie-Tooth disease, Type 1D (C537985)
..Charcot-Marie-Tooth disease, Type 1E (C537986)
..Charcot-Marie-Tooth disease, Type 1F (C537987)
..Charcot-Marie-Tooth disease, Type 2A (C537988)
..Charcot-Marie-Tooth disease, Type 2B (C537989)
..Charcot-Marie-Tooth disease, Type 2B1 (C537990)
..Charcot-Marie-Tooth disease, Type 2B2 (C537991)
..Charcot-Marie-Tooth disease, Type 2C (C537992)
..Charcot-Marie-Tooth disease, Type 2D (C537993)
..Charcot-Marie-Tooth disease, Type 2E (C537994)
..Charcot-Marie-Tooth disease, Type 2F (C535413)
..Charcot-Marie-Tooth disease, Type 2H (C535415)
..Charcot-Marie-Tooth disease, Type 2I (C535416)
..Charcot-Marie-Tooth disease, Type 2J (C535417)
..Charcot-Marie-Tooth disease, Type 2K (C535418)
..Charcot-Marie-Tooth disease, Type 4A (C535419)
..Charcot-Marie-Tooth disease, Type 4A, axonal form (C539595) 1
..Charcot-Marie-Tooth disease, Type 4B1 (C535420)
..Charcot-Marie-Tooth disease, Type 4B2 (C535421)
..Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
..CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
..Charcot-Marie-Tooth disease, Type 4C (C535423)
..Charcot-Marie-Tooth disease, Type 4E (C535301)
..Charcot-Marie-Tooth Disease, Type 4H (C563740)
..Charcot-Marie-Tooth Disease, Type 4j (C566984)
..CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
..Charcot-Marie-Tooth disease, X-linked recessive, 2 (C535302)
..Charcot-Marie-Tooth disease, X-linked recessive, 3 (C535303)
..Charcot-Marie-Tooth disease, X-linked, 1 (C535919)
..Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia (C564704)
..Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
..Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined (C564446)
..Cowchock syndrome (C536450)
..Hereditary Motor And Sensory Neuropathy, Type IIC (C565261)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Neuropathy, Distal Hereditary Motor, Type IIA (C563561)
..Neuropathy, hereditary motor and sensory, LOM type (C535716)
..Polyneuropathy, Mixed, of Early Onset (C564879)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2230

Name:

Charcot-Marie-Tooth Disease, Type 4H

Definition:

Alternative IDs:

OMIM:609311

ParentIDs:

MESH:D002607

TreeNumbers:

C10.500.300.200/C563740 |C10.574.500.495.200/C563740 |C10.668.829.800.300.200/C563740 |C16.131.666.300.200/C563740 |C16.320.400.375.200/C563740

Synonyms:

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H |Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H |Charcot-Marie-Tooth Neuropathy, Type 4H |CMT4H

Slim Mappings:

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

Reference:

MedGen: C563740
MeSH: C563740
OMIM: 609311;
MSeqDR :
Genes: FGD4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001284	Areflexia
4	HP:0003431	Decreased motor nerve conduction velocity
5	HP:0003380	Decreased number of peripheral myelinated nerve fibers
6	HP:0008944	Distal lower limb amyotrophy
7	HP:0009053	Distal lower limb muscle weakness
8	HP:0002936	Distal sensory impairment
9	HP:0001425	Heterogeneous
10	HP:0001265	Hyporeflexia
11	HP:0001270	Motor delay
12	HP:0003383	Onion bulb formation
13	HP:0011096	Peripheral demyelination
14	HP:0001761	Pes cavus
15	HP:0002650	Scoliosis
16	HP:0001762	Talipes equinovarus
17	HP:0003484	Upper limb muscle weakness
18	HP:0002515	Waddling gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met)	121512	FGD4	Benign	2651369	RCV000988805;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32552769	32552769	12:g.32552769C>G	-
NM_001370298.3(FGD4):c.167-77996del	121512	FGD4	Uncertain significance	1357153004	RCV000714783;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32639070	32639070	NC_000012.11:g.32639075del	-
NM_001370298.3(FGD4):c.167-62008C>A	121512	FGD4	Uncertain significance	187553815	RCV001110947;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32655063	32655063	12:g.32655063C>A	-
NM_001370298.3(FGD4):c.167-62001C>G	121512	FGD4	Uncertain significance	765758875	RCV001110948;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32655070	32655070	12:g.32655070C>G	-
NM_001370298.3(FGD4):c.167-62000T>C	121512	FGD4	Uncertain significance	886049252	RCV000278905;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32655071	32655071	12:g.32655071T>C	ClinGen:CA10640881	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.167-61986C>T	121512	FGD4	Benign	11052033	RCV000336355\|RCV001683240;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32655085	32655085	12:g.32655085C>T	ClinGen:CA10641835	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.167-61986C>G	121512	FGD4	Uncertain significance	11052033	RCV001110949;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32655085	32655085	12:g.32655085C>G	-
NM_001370298.3(FGD4):c.167-61974A>C	121512	FGD4	Uncertain significance	192626243	RCV000392815;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32655097	32655097	12:g.32655097A>C	ClinGen:CA10632551	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.167-61923G>A	121512	FGD4	Uncertain significance	184708096	RCV000282326;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32655148	32655148	12:g.32655148G>A	ClinGen:CA10632552	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.167-61842A>G	121512	FGD4	Uncertain significance	56168193	RCV000339623;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32655229	32655229	12:g.32655229A>G	ClinGen:CA10637213	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.167-61799G>C	121512	FGD4	Benign	77113168	RCV000405222\|RCV001712019;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32655272	32655272	12:g.32655272G>C	ClinGen:CA10632554	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.167-61790C>T	121512	FGD4	Conflicting interpretations of pathogenicity	531501340	RCV000304485\|RCV001718627;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32655281	32655281	12:g.32655281C>T	ClinGen:CA10632555	CN043578 Charcot-Marie-Tooth disease, type IV;
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4	121512	FGD4	Likely pathogenic	-1	RCV000735276;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32711272	32788014		-
NM_001370298.3(FGD4):c.268A>T (p.Ile90Leu)	121512	FGD4	Uncertain significance	886049253	RCV000361572;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32717172	32717172	12:g.32717172A>T	ClinGen:CA10637214	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)	121512	FGD4	Conflicting interpretations of pathogenicity	199744649	RCV000396677\|RCV000439988\|RCV001092390;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:CN169374\|MedGen:C3661900	12	32729256	32729256	12:g.32729256C>A	ClinGen:CA6506547	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)	121512	FGD4	Uncertain significance	371407163	RCV000236575\|RCV000536689\|RCV001112952\|RCV002347926;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32729341	32729341	12:g.32729341C>G	ClinGen:CA6506562	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.504-20C>G	121512	FGD4	Likely benign	1592293275	RCV001002524;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32734874	32734874	12:g.32734874C>G	-
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)	121512	FGD4	Likely benign	145115430	RCV000757290\|RCV001173489\|RCV001079716\|RCV001283349\|RCV002446876;	N	MedGen:C3661900\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32735037	32735037	NC_000012.11:g.32735037C>T	ClinGen:CA6506604	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)	121512	FGD4	Conflicting interpretations of pathogenicity	139357821	RCV000199755\|RCV000287175\|RCV000999867\|RCV001173488\|RCV001311295\|RCV002426945;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	12	32735056	32735056		ClinGen:CA338843
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys)	121512	FGD4	Uncertain significance	752621629	RCV000365553\|RCV002321982\|RCV002520803;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	12	32735111	32735111	12:g.32735111G>A	ClinGen:CA6506613	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)	121512	FGD4	Uncertain significance	142609007	RCV000233379\|RCV000558088\|RCV001112953\|RCV002450716;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32735130	32735130	12:g.32735130T>C	ClinGen:CA6506617	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.752C>T (p.Thr251Ile)	121512	FGD4	Uncertain significance	-1	RCV003147241;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32735142	32735142	NC_000012.11:g.32735142C>T	-
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)	121512	FGD4	Conflicting interpretations of pathogenicity	200732890	RCV000864209\|RCV001114308\|RCV001174104\|RCV002345961;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342,MedGen:C0950123	12	32735175	32735175	12:g.32735175C>T	-
NM_001370298.3(FGD4):c.789C>G (p.His263Gln)	121512	FGD4	Uncertain significance	757469397	RCV001526879\|RCV001873717\|RCV003442888;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:C3661900	12	32735179	32735179	32735179	-
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly)	121512	FGD4	Uncertain significance	759415605	RCV000273309\|RCV001094213\|RCV002374527;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32735199	32735199	12:g.32735199A>G	ClinGen:CA6506628	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.827C>T (p.Pro276Leu)	121512	FGD4	Uncertain significance	-1	RCV003147242;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32735217	32735217	NC_000012.11:g.32735217C>T	-
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)	121512	FGD4	Benign	904582	RCV000178387\|RCV000470504\|RCV001094214\|RCV001174115;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32735236	32735236	12:g.32735236C>G	ClinGen:CA202842	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.846C>T (p.Asp282=)	121512	FGD4	Benign	904582	RCV000368855\|RCV000517248\|RCV001094215\|RCV001174106\|RCV001706466;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:C3661900	12	32735236	32735236		ClinGen:CA6506635	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)	121512	FGD4	Conflicting interpretations of pathogenicity	201826412	RCV000236369\|RCV001079406\|RCV001173484\|RCV001114309\|RCV002338766;	N	MedGen:C3661900\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32735280	32735280	12:g.32735280G>A	ClinGen:CA6506638	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.925dup (p.Ala309fs)	121512	FGD4	Uncertain significance	1565869918	RCV000789102\|RCV003447170;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32735311	32735312	12:g.32735311_32735312insG	-
NM_001370298.3(FGD4):c.925del (p.Ala309fs)	121512	FGD4	Pathogenic	1565869918	RCV000782173;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32735312	32735312	12:g.32735312_32735312del	-
NM_001370298.3(FGD4):c.962G>A (p.Gly321Glu)	121512	FGD4	Uncertain significance	-1	RCV003147243;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32735352	32735352	NC_000012.11:g.32735352G>A	-
NM_001370298.3(FGD4):c.980T>C (p.Leu327Pro)	121512	FGD4	Uncertain significance	144980336	RCV000276768;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32735370	32735370	NC_000012.11:g.32735370T>C	ClinGen:CA10640899	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)	121512	FGD4	Conflicting interpretations of pathogenicity	147969494	RCV000654264\|RCV001114310\|RCV002360663;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32751465	32751465	12:g.32751465A>G	ClinGen:CA6506682	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)	121512	FGD4	Pathogenic	118203972	RCV000001066\|RCV001311296\|RCV001851524;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	12	32751500	32751500	12:g.32751500C>T	ClinGen:CA251667,OMIM:611104.0001	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs)	121512	FGD4	Likely pathogenic	2136608035	RCV001542680;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32751514	32751518	32751513	-
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)	121512	FGD4	Uncertain significance	201915829	RCV001053413\|RCV001114311\|RCV001759791;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32754252	32754252	12:g.32754252C>T	-
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)	121512	FGD4	Benign/Likely benign	34555341	RCV000539868\|RCV000604589\|RCV001094092\|RCV001174102\|RCV002379185;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342,MedGen:C0950123	12	32754253	32754253		ClinGen:CA6506712
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)	121512	FGD4	Pathogenic	118203974	RCV000001071\|RCV001248027;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	12	32754344	32754344	12:g.32754344C>T	ClinGen:CA339860,OMIM:611104.0006	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.1247+10G>T	121512	FGD4	Benign	41276676	RCV000210498\|RCV000711635\|RCV001000351\|RCV001174113;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:C3661900\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32754367	32754367	12:g.32754367G>T	ClinGen:CA6506724	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1248-37T>A	121512	FGD4	Benign	4931641	RCV000829632\|RCV001702564;	N	MedGen:CN517202\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32755058	32755058	12:g.32755058T>A	-
NM_001370298.3(FGD4):c.1248-2A>G	121512	FGD4	Uncertain significance	1592368395	RCV000790325\|RCV003447311;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32755093	32755093	12:g.32755093A>G	-
NM_001370298.3(FGD4):c.1248-1G>A	121512	FGD4	Uncertain significance	1592368399	RCV000789108\|RCV003447173;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32755094	32755094	12:g.32755094G>A	-
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)	121512	FGD4	Conflicting interpretations of pathogenicity	773609461	RCV000279341\|RCV001174100\|RCV001473634;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	12	32755110	32755110		ClinGen:CA6506751	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)	121512	FGD4	Benign/Likely benign	151083690	RCV000528065\|RCV000597812\|RCV001110292\|RCV001561490\|RCV002377181;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	12	32755143	32755143		ClinGen:CA6506753	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)	121512	FGD4	Conflicting interpretations of pathogenicity	63749871	RCV000001070\|RCV000789103;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32755151	32755151	12:g.32755151T>C	ClinGen:CA339859,UniProtKB:Q96M96#VAR_044321,OMIM:611104.0005	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)	121512	FGD4	Pathogenic	63749871	RCV000032001\|RCV000695680\|RCV000789104;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32755151	32755151	12:g.32755151T>G	ClinGen:CA343103,UniProtKB:Q96M96#VAR_034957,OMIM:611104.0002	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.1305G>T (p.Met435Ile)	121512	FGD4	Uncertain significance	1948472955	RCV001110293;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32755152	32755152	12:g.32755152G>T	-
NM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs)	121512	FGD4	Pathogenic/Likely pathogenic	771606350	RCV000518484\|RCV002289701;	N	MedGen:CN517202\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32755209	32755210	NC_000012.11:g.32755210_32755211del	ClinGen:CA6506760
NM_001370298.3(FGD4):c.1367G>A (p.Arg456His)	121512	FGD4	Uncertain significance	533939591	RCV000714587;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32755214	32755214	NC_000012.11:g.32755214G>A	-
NM_001370298.3(FGD4):c.1404+4A>T	121512	FGD4	Uncertain significance	767855809	RCV000317934\|RCV001366739;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	12	32755255	32755255	NC_000012.11:g.32755255A>T	ClinGen:CA6506763	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1404+8G>A	121512	FGD4	Benign	12823621	RCV000374914\|RCV000516621\|RCV001094093\|RCV001174112\|RCV001706467;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:C3661900	12	32755259	32755259	NC_000012.11:g.32755259G>A	ClinGen:CA6506766	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1405-4A>G	121512	FGD4	Uncertain significance	886049254	RCV000282914;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32760887	32760887	NC_000012.11:g.32760887A>G	ClinGen:CA10641845	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1470C>T (p.Pro490=)	121512	FGD4	Benign	16920084	RCV000475322\|RCV001094110\|RCV001709587;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32760956	32760956		ClinGen:CA6506790	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1543+1G>A	121512	FGD4	Uncertain significance	1592388367	RCV000789106\|RCV003447171;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32761030	32761030	12:g.32761030G>A	-
NM_001370298.3(FGD4):c.1543+13T>C	121512	FGD4	Conflicting interpretations of pathogenicity	762177862	RCV000378611\|RCV002056289;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	12	32761042	32761042	NC_000012.11:g.32761042T>C	ClinGen:CA6506804	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1573dup (p.Ser525fs)	121512	FGD4	Likely pathogenic	-1	RCV002569459;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32763737	32763738	NC_000012.11:g.32763739dup	-
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn)	121512	FGD4	Uncertain significance	781528826	RCV000654181\|RCV001535472\|RCV002331272;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32763752	32763752	12:g.32763752G>A	ClinGen:CA6506824	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1602+6T>C	121512	FGD4	Uncertain significance	1344451580	RCV001111044;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32763774	32763774	12:g.32763774T>C	-
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)	121512	FGD4	Uncertain significance	750265200	RCV000654188\|RCV001094111;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32764077	32764077	NC_000012.11:g.32764077C>G	ClinGen:CA6506846	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln)	121512	FGD4	Uncertain significance	749692745	RCV001880318\|RCV003146263;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32764080	32764080	32764080	-
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=)	121512	FGD4	Benign	10844253	RCV000125100\|RCV000343866\|RCV000600839\|RCV001174109;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32764184	32764184		ClinGen:CA290926	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)	121512	FGD4	Uncertain significance	281865063	RCV000031999\|RCV000789100;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32764204	32764204	12:g.32764204G>A	ClinGen:CA343101	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.1750-12C>T	121512	FGD4	Benign	73083501	RCV000405789\|RCV001174107\|RCV001521284\|RCV001612976;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:C3661900	12	32772620	32772620	NC_000012.11:g.32772620C>T	ClinGen:CA6506878	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)	121512	FGD4	Conflicting interpretations of pathogenicity	138160928	RCV000168099\|RCV000219132\|RCV000857634\|RCV001094112\|RCV001174096\|RCV002381537;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342,MedGen:C0950123	12	32772659	32772659	12:g.32772659C>A	ClinGen:CA334267	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=)	121512	FGD4	Benign	60803891	RCV000475403\|RCV000430510\|RCV000711634\|RCV001094113\|RCV001172949;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32777359	32777359		ClinGen:CA6506910	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=)	121512	FGD4	Benign	11052110	RCV000125101\|RCV000406085\|RCV000607923\|RCV001174110;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32777362	32777362		ClinGen:CA290928	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del)	121512	FGD4	Uncertain significance	1565920164	RCV001007470;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32777369	32777371	12:g.32777369_32777371del	-
NM_001370298.3(FGD4):c.1954-8T>C	121512	FGD4	Benign/Likely benign	115061722	RCV000210493\|RCV000426397\|RCV001094177\|RCV001172948;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32777902	32777902	12:g.32777902T>C	ClinGen:CA6506951	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)	121512	FGD4	Benign/Likely benign	61748364	RCV000174615\|RCV000205200\|RCV001094178\|RCV001174111\|RCV001311297\|RCV002399629;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	12	32777927	32777927		ClinGen:CA201093	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.1980T>C (p.Phe660=)	121512	FGD4	Uncertain significance	1950062958	RCV001113028;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32777936	32777936		-
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)	121512	FGD4	Conflicting interpretations of pathogenicity	1565921326	RCV000001068\|RCV000789110;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32777993	32777994	NC_000012.11:g.32777993AG[1]	OMIM:611104.0003
NM_001370298.3(FGD4):c.2046+37A>G	121512	FGD4	Benign	7970584	RCV001669912\|RCV001702232;	N	MedGen:C3661900\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32778039	32778039	32778039	-
NM_001370298.3(FGD4):c.2047-7T>C	121512	FGD4	Benign	11052113	RCV000277525\|RCV000518416\|RCV001094179\|RCV001174108\|RCV001706468;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:C3661900	12	32778581	32778581	NC_000012.11:g.32778581T>C	ClinGen:CA6506983	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=)	121512	FGD4	Benign/Likely benign	188104446	RCV000174806\|RCV000462267\|RCV001094180\|RCV001174105\|RCV001711348\|RCV002390425;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	12	32778611	32778611		ClinGen:CA201184	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile)	121512	FGD4	not provided	281865064	RCV000032000;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32778650	32778650	12:g.32778650G>N	-	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile)	121512	FGD4	Uncertain significance	281865064	RCV000789101\|RCV003447169;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32778650	32778650	12:g.32778650G>A	-
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)	121512	FGD4	Benign/Likely benign	144693221	RCV000168459\|RCV000357650\|RCV000658641\|RCV001094181\|RCV001174114\|RCV002399597;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342,MedGen:C0950123	12	32778663	32778663	12:g.32778663C>A	ClinGen:CA346829	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala)	121512	FGD4	Uncertain significance	144693221	RCV000236629\|RCV000263275\|RCV001094182\|RCV002401924;	N	MedGen:C3661900\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32778663	32778663	12:g.32778663C>G	ClinGen:CA6506987	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln)	121512	FGD4	Uncertain significance	1950123802	RCV001542681\|RCV003246982;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32778700	32778700	32778700	-
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)	121512	FGD4	Conflicting interpretations of pathogenicity	118203973	RCV000001069;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32778708	32778708	12:g.32778708G>T	ClinGen:CA251669,OMIM:611104.0004	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.2172+12T>G	121512	FGD4	Conflicting interpretations of pathogenicity	945554080	RCV001114407\|RCV002069843;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	12	32778725	32778725	12:g.32778725T>G	-
NM_001370298.3(FGD4):c.2173-2A>G	121512	FGD4	Conflicting interpretations of pathogenicity	281865065	RCV000001072\|RCV000789105;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	12	32786481	32786481	12:g.32786481A>G	ClinGen:CA339862,OMIM:611104.0007	C1836336 609311 Charcot-Marie-Tooth disease, type 4H;
NM_001370298.3(FGD4):c.2183G>A (p.Trp728Ter)	121512	FGD4	Uncertain significance	1592488602	RCV000789111\|RCV003447175;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32786493	32786493	12:g.32786493G>A	-
NM_001370298.3(FGD4):c.2225G>A (p.Gly742Asp)	121512	FGD4	Uncertain significance	886049255	RCV000320807;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32786535	32786535	NC_000012.11:g.32786535G>A	ClinGen:CA10637221	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)	121512	FGD4	Pathogenic	751035912	RCV000484688\|RCV000789112\|RCV001047299\|RCV003447139;	N	MedGen:C3661900\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32786595	32786599	NC_000012.11:g.32786598AAAAG[2]	ClinGen:CA6507028
NM_001370298.3(FGD4):c.2297_2300del (p.Arg766fs)	121512	FGD4	Uncertain significance	1592489096	RCV000789109\|RCV003447174;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32786604	32786607	12:g.32786604_32786607del	-
NM_001370298.3(FGD4):c.2301_2305del (p.Lys767fs)	121512	FGD4	Uncertain significance	1592489165	RCV000789107\|RCV003447172;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32786609	32786613	12:g.32786609_32786613del	-
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)	121512	FGD4	Uncertain significance	140220443	RCV000815703\|RCV001173483\|RCV001114408\|RCV002422824;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32793261	32793261	12:g.32793261A>G	-
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)	121512	FGD4	Conflicting interpretations of pathogenicity	61753359	RCV000236955\|RCV000727143\|RCV001080120\|RCV001114409\|RCV002426801;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MeSH:D030342,MedGen:C0950123	12	32793315	32793315	12:g.32793315G>A	ClinGen:CA346827	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.2622dup (p.Ala875fs)	121512	FGD4	Pathogenic	1565942358	RCV000782174;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32793376	32793377	12:g.32793376_32793377insA	-
NM_001370298.3(FGD4):c.*22G>A	121512	FGD4	Benign/Likely benign	114284024	RCV000377512\|RCV001569529;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32793489	32793489	NC_000012.11:g.32793489G>A	ClinGen:CA6507152	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*27G>A	121512	FGD4	Benign/Likely benign	150192477	RCV001114410\|RCV001593275;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32793494	32793494	12:g.32793494G>A	-
NM_001370298.3(FGD4):c.*69T>C	121512	FGD4	Uncertain significance	1332829385	RCV001114411;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32793536	32793536	12:g.32793536T>C	-
NM_001370298.3(FGD4):c.*131A>G	121512	FGD4	Uncertain significance	1251131756	RCV001114412;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32793598	32793598	12:g.32793598A>G	-
NM_001370298.3(FGD4):c.*167G>A	121512	FGD4	Likely benign	138847108	RCV001110378;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32793634	32793634	12:g.32793634G>A	-
NM_001370298.3(FGD4):c.*290G>A	121512	FGD4	Benign/Likely benign	79732949	RCV000266834\|RCV001582946;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32793757	32793757	NC_000012.11:g.32793757G>A	ClinGen:CA10640903	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*368T>C	121512	FGD4	Uncertain significance	925762740	RCV001110379;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32793835	32793835	12:g.32793835T>C	-
NM_001370298.3(FGD4):c.*411A>G	121512	FGD4	Uncertain significance	886049256	RCV000324248;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32793878	32793878	NC_000012.11:g.32793878A>G	ClinGen:CA10640911	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*497T>C	121512	FGD4	Uncertain significance	886049257	RCV000381133;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32793964	32793964	NC_000012.11:g.32793964T>C	ClinGen:CA10641847	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*712C>T	121512	FGD4	Uncertain significance	1226829212	RCV001110380;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794179	32794179	12:g.32794179C>T	-
NM_001370298.3(FGD4):c.*734G>A	121512	FGD4	Uncertain significance	886049258	RCV000288674;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794201	32794201	NC_000012.11:g.32794201G>A	ClinGen:CA10641849	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*762G>T	121512	FGD4	Uncertain significance	886049259	RCV000346003;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794229	32794229	NC_000012.11:g.32794229G>T	ClinGen:CA10632566	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*792A>T	121512	FGD4	Benign	140601094	RCV000384141;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794259	32794259	NC_000012.11:g.32794259A>T	ClinGen:CA10632572	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*795G>A	121512	FGD4	Uncertain significance	112398567	RCV000292208;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794262	32794262	NC_000012.11:g.32794262G>A	ClinGen:CA10641850	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1006C>T	121512	FGD4	Uncertain significance	886049260	RCV000349592;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794473	32794473	NC_000012.11:g.32794473C>T	ClinGen:CA10641851	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1007G>A	121512	FGD4	Benign	114843464	RCV000407793;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794474	32794474	NC_000012.11:g.32794474G>A	ClinGen:CA10632574	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1068A>G	121512	FGD4	Benign	537833755	RCV000314632;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794535	32794535	NC_000012.11:g.32794535A>G	ClinGen:CA10637227	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1133A>C	121512	FGD4	Benign	10844268	RCV000334527;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794600	32794600	NC_000012.11:g.32794600A>C	ClinGen:CA10632575	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1148C>T	121512	FGD4	Benign	56110646	RCV000402828;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794615	32794615	NC_000012.11:g.32794615C>T	ClinGen:CA10641852	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1160G>A	121512	FGD4	Uncertain significance	540745195	RCV000299996;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794627	32794627	NC_000012.11:g.32794627G>A	ClinGen:CA10640917	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1259A>G	121512	FGD4	Uncertain significance	756972257	RCV001113115;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794726	32794726	12:g.32794726A>G	-
NM_001370298.3(FGD4):c.*1274G>A	121512	FGD4	Uncertain significance	570269532	RCV000357163;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794741	32794741	NC_000012.11:g.32794741G>A	ClinGen:CA10641853	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1351A>T	121512	FGD4	Uncertain significance	558890776	RCV001113116;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794818	32794818	12:g.32794818A>T	-
NM_001370298.3(FGD4):c.*1354A>G	121512	FGD4	Uncertain significance	886049261	RCV000264730;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794821	32794821	NC_000012.11:g.32794821A>G	ClinGen:CA10632577	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1356T>G	121512	FGD4	Uncertain significance	886049262	RCV000303404;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794823	32794823	12:g.32794823T>G	ClinGen:CA10637229	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1365T>C	121512	FGD4	Uncertain significance	927175650	RCV001113117;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794832	32794832	12:g.32794832T>C	-
NM_001370298.3(FGD4):c.*1375C>T	121512	FGD4	Uncertain significance	1951171868	RCV001113118;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794842	32794842	12:g.32794842C>T	-
NM_001370298.3(FGD4):c.*1454A>G	121512	FGD4	Benign	7964947	RCV000360536;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794921	32794921	12:g.32794921A>G	ClinGen:CA10640920	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1485T>C	121512	FGD4	Uncertain significance	55970127	RCV000268179;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794952	32794952	12:g.32794952T>C	ClinGen:CA10637230	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1492T>G	121512	FGD4	Benign	7980205	RCV000325578;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794959	32794959	12:g.32794959T>G	ClinGen:CA10641857	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1530T>C	121512	FGD4	Uncertain significance	1180856784	RCV001114498;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32794997	32794997	12:g.32794997T>C	-
NM_001370298.3(FGD4):c.*1564T>C	121512	FGD4	Benign	77836862	RCV001114499;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795031	32795031	12:g.32795031T>C	-
NM_001370298.3(FGD4):c.*1704C>G	121512	FGD4	Uncertain significance	886049263	RCV000382917;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795171	32795171	12:g.32795171C>G	ClinGen:CA10632578	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1723C>T	121512	FGD4	Benign	4931030	RCV000272086;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795190	32795190	12:g.32795190C>T	ClinGen:CA10640922	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1781G>A	121512	FGD4	Uncertain significance	886049264	RCV000329526;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795248	32795248	12:g.32795248G>A	ClinGen:CA10632580	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1828A>T	121512	FGD4	Benign	4931031	RCV000386428;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795295	32795295	12:g.32795295A>T	ClinGen:CA10640928	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1866T>G	121512	FGD4	Uncertain significance	886049265	RCV000294455;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795333	32795333	12:g.32795333T>G	ClinGen:CA10641858	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1908G>C	121512	FGD4	Uncertain significance	886049266	RCV000333059;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795375	32795375	12:g.32795375G>C	ClinGen:CA10637231	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*1954A>G	121512	FGD4	Benign	1239829	RCV000389845;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795421	32795421	12:g.32795421A>G	ClinGen:CA10641861	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2026A>G	121512	FGD4	Uncertain significance	765502938	RCV000279095;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795493	32795493	12:g.32795493A>G	ClinGen:CA10637233	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2096T>A	121512	FGD4	Uncertain significance	1951211157	RCV001110461;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795563	32795563	12:g.32795563T>A	-
NM_001370298.3(FGD4):c.*2103A>G	121512	FGD4	Likely benign	55963204	RCV000336679;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795570	32795570	12:g.32795570A>G	ClinGen:CA10640929	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2192G>A	121512	FGD4	Uncertain significance	568095427	RCV001110462;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795659	32795659	12:g.32795659G>A	-
NM_001370298.3(FGD4):c.*2203T>C	121512	FGD4	Benign	41276678	RCV000391491;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795670	32795670	12:g.32795670T>C	ClinGen:CA10641862	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2264G>A	121512	FGD4	Uncertain significance	867102953	RCV001111213;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795731	32795731	12:g.32795731G>A	-
NM_001370298.3(FGD4):c.*2309G>A	121512	FGD4	Uncertain significance	907361043	RCV001111214;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795776	32795776	12:g.32795776G>A	-
NM_001370298.3(FGD4):c.*2374G>T	121512	FGD4	Uncertain significance	753715337	RCV000282828;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795841	32795841	12:g.32795841G>T	ClinGen:CA10637234	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2462C>A	121512	FGD4	Uncertain significance	575272682	RCV000340161;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32795929	32795929	NC_000012.11:g.32795929C>A	ClinGen:CA10637237	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2487C>A	121512	FGD4	Conflicting interpretations of pathogenicity	188600194	RCV001111215\|RCV002292606;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32795954	32795954	12:g.32795954C>A	-
NM_001370298.3(FGD4):c.*2537C>A	121512	FGD4	Benign	115173894	RCV000403721;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796004	32796004	NC_000012.11:g.32796004C>A	ClinGen:CA10637241	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2638A>G	121512	FGD4	Likely benign	193167910	RCV000305266;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796105	32796105	NC_000012.11:g.32796105A>G	ClinGen:CA10640930	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2648G>A	121512	FGD4	Uncertain significance	1041987634	RCV001113219;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796115	32796115	12:g.32796115G>A	-
NM_001370298.3(FGD4):c.*2813C>T	121512	FGD4	Uncertain significance	148195158	RCV000362340;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796280	32796280	NC_000012.11:g.32796280C>T	ClinGen:CA10641873	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*2859G>A	121512	FGD4	Uncertain significance	772364905	RCV001113220;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796326	32796326	12:g.32796326G>A	-
NM_001370298.3(FGD4):c.*3022A>G	121512	FGD4	Uncertain significance	575960786	RCV001113221;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796489	32796489	12:g.32796489A>G	-
NM_001370298.3(FGD4):c.*3037C>A	121512	FGD4	Uncertain significance	886049267	RCV000303565;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796504	32796504	NC_000012.11:g.32796504C>A	ClinGen:CA10641876	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3044T>C	121512	FGD4	Uncertain significance	747748956	RCV000358323;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796511	32796511	NC_000012.11:g.32796511T>C	ClinGen:CA10637242	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3130G>A	121512	FGD4	Benign	73087441	RCV000354721;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796597	32796597	NC_000012.11:g.32796597G>A	ClinGen:CA10640937	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3130G>T	121512	FGD4	Benign	73087441	RCV000259808;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796597	32796597	NC_000012.11:g.32796597G>T	ClinGen:CA10640939	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3150A>G	121512	FGD4	Uncertain significance	542871416	RCV000388276;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796617	32796617	NC_000012.11:g.32796617A>G	ClinGen:CA10637247	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3195T>G	121512	FGD4	Uncertain significance	1951276558	RCV001114581;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796662	32796662	12:g.32796662T>G	-
NM_001370298.3(FGD4):c.*3340A>C	121512	FGD4	Benign	75320947	RCV000293762;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796807	32796807	NC_000012.11:g.32796807A>C	ClinGen:CA10640940	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3367G>T	121512	FGD4	Likely benign	188648275	RCV000330072;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796834	32796834	NC_000012.11:g.32796834G>T	ClinGen:CA10641888	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3438C>T	121512	FGD4	Uncertain significance	886049269	RCV000384661;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796905	32796905	NC_000012.11:g.32796905C>T	ClinGen:CA10637250	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3482G>T	121512	FGD4	Uncertain significance	886049270	RCV000290091;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32796949	32796949	NC_000012.11:g.32796949G>T	ClinGen:CA10632581	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3543G>C	121512	FGD4	Uncertain significance	753405606	RCV001114582;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797010	32797010	12:g.32797010G>C	-
NM_001370298.3(FGD4):c.*3630T>C	121512	FGD4	Benign	73313005	RCV000345280;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797097	32797097	NC_000012.11:g.32797097T>C	ClinGen:CA10641889	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3676A>G	121512	FGD4	Likely benign	189489067	RCV000407044;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797143	32797143	NC_000012.11:g.32797143A>G	ClinGen:CA10640941	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3770G>T	121512	FGD4	Benign	11052123	RCV000286713;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797237	32797237	NC_000012.11:g.32797237G>T	ClinGen:CA10641890	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3814A>G	121512	FGD4	Uncertain significance	886049271	RCV000341727;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797281	32797281	NC_000012.11:g.32797281A>G	ClinGen:CA10641899	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3905A>G	121512	FGD4	Uncertain significance	886049273	RCV000301548;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797372	32797372	NC_000012.11:g.32797372A>G	ClinGen:CA10640942	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*3937A>G	121512	FGD4	Uncertain significance	180683152	RCV001108957;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797404	32797404	12:g.32797404A>G	-
NM_001370298.3(FGD4):c.*3940G>A	121512	FGD4	Uncertain significance	549337235	RCV001108958;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797407	32797407	12:g.32797407G>A	-
NM_001370298.3(FGD4):c.*3994A>G	121512	FGD4	Uncertain significance	567853773	RCV001108959;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797461	32797461	12:g.32797461A>G	-
NM_001370298.3(FGD4):c.*4014C>A	121512	FGD4	Likely benign	187562428	RCV001108960;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797481	32797481	12:g.32797481C>A	-
NM_001370298.3(FGD4):c.*4028A>G	121512	FGD4	Likely benign	75608969	RCV001111314;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797495	32797495	12:g.32797495A>G	-
NM_001370298.3(FGD4):c.*4063A>G	121512	FGD4	Benign	62642552	RCV000405557;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797530	32797530	NC_000012.11:g.32797530A>G	ClinGen:CA10641901	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4118G>A	121512	FGD4	Uncertain significance	895913893	RCV001111315;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797585	32797585	12:g.32797585G>A	-
NM_001370298.3(FGD4):c.*4128C>T	121512	FGD4	Benign	12312970	RCV000298156;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797595	32797595	NC_000012.11:g.32797595C>T	ClinGen:CA10640947	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4192G>T	121512	FGD4	Benign	77065831	RCV001111316;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797659	32797659	12:g.32797659G>T	-
NM_001370298.3(FGD4):c.*4211T>C	121512	FGD4	Benign	75583772	RCV000353088;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797678	32797678	NC_000012.11:g.32797678T>C	ClinGen:CA10632584	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4268A>G	121512	FGD4	Uncertain significance	542163387	RCV000277220;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797735	32797735	NC_000012.11:g.32797735A>G	ClinGen:CA10637252	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4317T>G	121512	FGD4	Uncertain significance	1951329705	RCV001111317;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797784	32797784	12:g.32797784T>G	-
NM_001370298.3(FGD4):c.*4347T>C	121512	FGD4	Uncertain significance	966650800	RCV001113322;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797814	32797814	12:g.32797814T>C	-
NM_001370298.3(FGD4):c.*4438A>G	121512	FGD4	Benign	11052124	RCV000367614;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797905	32797905	NC_000012.11:g.32797905A>G	ClinGen:CA10640951	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4446A>G	121512	FGD4	Uncertain significance	1056318297	RCV001113323;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797913	32797913	12:g.32797913A>G	-
NM_001370298.3(FGD4):c.*4454G>A	121512	FGD4	Benign	147515673	RCV000273032\|RCV003221905;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954\|MedGen:C3661900	12	32797921	32797921	12:g.32797921G>A	ClinGen:CA10632588	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4497G>A	121512	FGD4	Likely benign	367545740	RCV000328028;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32797964	32797964	12:g.32797964G>A	ClinGen:CA10640953	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4585T>A	121512	FGD4	Likely benign	140048835	RCV001113324;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798052	32798052	12:g.32798052T>A	-
NM_001370298.3(FGD4):c.*4652T>C	121512	FGD4	Benign	16920125	RCV000382612;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798119	32798119	12:g.32798119T>C	ClinGen:CA10641902	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4756A>G	121512	FGD4	Uncertain significance	763037960	RCV000269306;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798223	32798223	12:g.32798223A>G	ClinGen:CA10632589	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4831C>T	121512	FGD4	Likely benign	145433607	RCV000379049;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798298	32798298	12:g.32798298C>T	ClinGen:CA10640954	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4832G>A	121512	FGD4	Uncertain significance	1047737160	RCV001114691;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798299	32798299	12:g.32798299G>A	-
NM_001370298.3(FGD4):c.*4862C>A	121512	FGD4	Uncertain significance	886049275	RCV000284614;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798329	32798329	12:g.32798329C>A	ClinGen:CA10632590	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4925A>T	121512	FGD4	Uncertain significance	886049276	RCV000339954;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798392	32798392	12:g.32798392A>T	ClinGen:CA10637259	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4956T>A	121512	FGD4	Benign	149215917	RCV000375923;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798423	32798423	12:g.32798423T>A	ClinGen:CA10641911	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4977G>C	121512	FGD4	Uncertain significance	575914495	RCV000281300;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798444	32798444	12:g.32798444G>C	ClinGen:CA10641912	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*4988G>A	121512	FGD4	Benign	540366205	RCV001114692;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798455	32798455	12:g.32798455G>A	-
NM_001370298.3(FGD4):c.*4991A>G	121512	FGD4	Benign	1239830	RCV000336307;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798458	32798458	12:g.32798458A>G	ClinGen:CA10640959	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5020G>C	121512	FGD4	Uncertain significance	886049277	RCV000407905;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798487	32798487	12:g.32798487G>C	ClinGen:CA10641913	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5072A>G	121512	FGD4	Uncertain significance	886049278	RCV000315564;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798539	32798539	12:g.32798539A>G	ClinGen:CA10640965	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5152C>T	121512	FGD4	Uncertain significance	886049279	RCV000351580;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798619	32798619	12:g.32798619C>T	ClinGen:CA10632593	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5153G>A	121512	FGD4	Uncertain significance	1160169859	RCV001109067;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798620	32798620	12:g.32798620G>A	-
NM_001370298.3(FGD4):c.*5198G>A	121512	FGD4	Benign	1133509	RCV000310944;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798665	32798665	NC_000012.11:g.32798665G>A	ClinGen:CA10637260	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5223G>A	121512	FGD4	Uncertain significance	886049280	RCV000365576;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798690	32798690	NC_000012.11:g.32798690G>A	ClinGen:CA10641916	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5243C>T	121512	FGD4	Uncertain significance	1225473163	RCV001109068;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798710	32798710	12:g.32798710C>T	-
NM_001370298.3(FGD4):c.*5244G>A	121512	FGD4	Likely benign	186014657	RCV000271092;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798711	32798711	NC_000012.11:g.32798711G>A	ClinGen:CA10641919	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5265A>G	121512	FGD4	Uncertain significance	1357653958	RCV001111407;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798732	32798732	12:g.32798732A>G	-
NM_001370298.3(FGD4):c.*5309C>T	121512	FGD4	Uncertain significance	556209722	RCV000307549;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798776	32798776	NC_000012.11:g.32798776C>T	ClinGen:CA10640969	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5321G>A	121512	FGD4	Uncertain significance	1013226199	RCV001111408;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798788	32798788	12:g.32798788G>A	-
NM_001370298.3(FGD4):c.*5329G>C	121512	FGD4	Uncertain significance	886049281	RCV000362290;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798796	32798796	NC_000012.11:g.32798796G>C	ClinGen:CA10641922	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_001370298.3(FGD4):c.*5389A>G	121512	FGD4	Uncertain significance	566628332	RCV001111409;	N	MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311, Orphanet:99954	12	32798856	32798856	12:g.32798856A>G	-

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