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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 4C (C535423)
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:

2228

Name:

Charcot-Marie-Tooth disease, Type 4C

Definition:

Alternative IDs:

OMIM:601596

ParentIDs:

MESH:D002607

TreeNumbers:

C10.500.300.200/C535423 |C10.574.500.495.200/C535423 |C10.668.829.800.300.200/C535423 |C16.131.666.300.200/C535423 |C16.320.400.375.200/C535423

Synonyms:

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c |Charcot-Marie-Tooth Neuropathy, Type 4c |Cmt4c |CMT 4C

Slim Mappings:

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

Reference:

MedGen: C535423
MeSH: C535423
OMIM: 601596;
MSeqDR :
Genes: SH3TC2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007695	Abnormal pupillary light reflex
3	HP:0001291	Abnormality of the cranial nerves
4	HP:0003400	Basal lamina 'onion bulb' formation
5	HP:0003431	Decreased motor nerve conduction velocity
6	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
7	HP:0002355	Difficulty walking
8	HP:0003693	Distal amyotrophy
9	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal
10	HP:0002936	Distal sensory impairment
11	HP:0010628	Facial palsy
12	HP:0000365	Hearing impairment
13	HP:0001425	Heterogeneous
14	HP:0001270	Motor delay
15	HP:0000639	Nystagmus
16	HP:0000764	Peripheral axonal degeneration
17	HP:0001761	Pes cavus
18	HP:0003812	Phenotypic variability
19	HP:0004466	Prolonged brainstem auditory evoked potentials
20	HP:0002650	Scoliosis
21	HP:0007107	Segmental peripheral demyelination
22	HP:0012473	Tongue atrophy
23	HP:0001308	Tongue fasciculations
24	HP:0003484	Upper limb muscle weakness

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_024577.4(SH3TC2):c.*22505G>T	79628	SH3TC2	Uncertain significance	rs1034634583	RCV001156001\|RCV001156002;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148361769	148361769	5:g.148361769C>A	-
NM_024577.4(SH3TC2):c.*22357T>C	79628	SH3TC2	Likely benign	rs191754280	RCV000339076\|RCV000393584;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148361917	148361917	NC_000005.9:g.148361917A>G	ClinGen:CA10619380	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*22291T>C	79628	SH3TC2	Uncertain significance	rs886060091	RCV000299637\|RCV000338248;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148361983	148361983	NC_000005.9:g.148361983A>G	ClinGen:CA10619381	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*22212G>A	79628	SH3TC2	Benign/Likely benign	rs149300520	RCV000298309\|RCV000393576;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148362062	148362062	NC_000005.9:g.148362062C>T	ClinGen:CA10623253	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*22208T>C	79628	SH3TC2	Uncertain significance	rs756451967	RCV001157712\|RCV001157713;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148362066	148362066	5:g.148362066A>G	-
NM_024577.4(SH3TC2):c.*22199C>T	79628	SH3TC2	Uncertain significance	rs778637809	RCV000277409\|RCV000369651;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148362075	148362075	NC_000005.9:g.148362075G>A	ClinGen:CA10623090	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*22168C>G	79628	SH3TC2	Uncertain significance	rs886060092	RCV000311354\|RCV000368396;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148362106	148362106	NC_000005.9:g.148362106G>C	ClinGen:CA10623260	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*22035G>A	79628	SH3TC2	Likely benign	rs544954149	RCV000272804\|RCV000325510;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148362239	148362239	NC_000005.9:g.148362239C>T	ClinGen:CA10619383	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*22034C>T	79628	SH3TC2	Uncertain significance	rs886060093	RCV000267004\|RCV000382559;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148362240	148362240	NC_000005.9:g.148362240G>A	ClinGen:CA10623093	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21955A>G	79628	SH3TC2	Uncertain significance	rs575501943	RCV000324553\|RCV000376827;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148362319	148362319	NC_000005.9:g.148362319T>C	ClinGen:CA10623097	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21786G>A	79628	SH3TC2	Likely benign	rs6890482	RCV000284252\|RCV000336905\|RCV002291621;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148362488	148362488	NC_000005.9:g.148362488C>T	ClinGen:CA10623261	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21728T>C	79628	SH3TC2	Likely benign	rs142485824	RCV000278308\|RCV000375130;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148362546	148362546	NC_000005.9:g.148362546A>G	ClinGen:CA10623101	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21703G>A	79628	SH3TC2	Uncertain significance	rs761390238	RCV000335587\|RCV000401513;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148362571	148362571	NC_000005.9:g.148362571C>T	ClinGen:CA10623266	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21658A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs145964634	RCV000295687\|RCV000348244;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148362616	148362616	NC_000005.9:g.148362616T>C	ClinGen:CA10619384	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21539T>C	79628	SH3TC2	Uncertain significance	rs542529184	RCV000308691\|RCV000407885;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148362735	148362735	NC_000005.9:g.148362735A>G	ClinGen:CA10619385	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21532C>A	79628	SH3TC2	Uncertain significance	rs763141563	RCV000366639\|RCV000403037;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148362742	148362742	NC_000005.9:g.148362742G>T	ClinGen:CA10619386	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21472A>G	79628	SH3TC2	Benign/Likely benign	rs59731646	RCV000268574\|RCV000321379\|RCV001662312;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148362802	148362802	NC_000005.9:g.148362802T>C	ClinGen:CA10619391	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21371A>G	79628	SH3TC2	Uncertain significance	rs768014940	RCV001156116\|RCV001156117;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148362903	148362903	5:g.148362903T>C	-
NM_024577.4(SH3TC2):c.*21281T>G	79628	SH3TC2	Uncertain significance	rs528064272	RCV001157802\|RCV001157801;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148362993	148362993	5:g.148362993A>C	-
NM_024577.4(SH3TC2):c.*21149A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs552963495	RCV001157804\|RCV001157803;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363125	148363125	5:g.148363125T>C	-
NM_024577.4(SH3TC2):c.*21119G>T	79628	SH3TC2	Uncertain significance	rs1326174533	RCV001157805\|RCV001157806;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148363155	148363155	5:g.148363155C>A	-
NM_024577.4(SH3TC2):c.*21118G>T	79628	SH3TC2	Uncertain significance	rs886060095	RCV000319711\|RCV000372024;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363156	148363156	NC_000005.9:g.148363156C>A	ClinGen:CA10623267	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*21087A>G	79628	SH3TC2	Uncertain significance	rs1753287119	RCV001152327\|RCV001152326;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363187	148363187	5:g.148363187T>C	-
NM_024577.4(SH3TC2):c.*20966T>G	79628	SH3TC2	Uncertain significance	rs532239431	RCV001152329\|RCV001152328;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148363308	148363308	5:g.148363308A>C	-
NM_024577.4(SH3TC2):c.*20935C>G	79628	SH3TC2	Uncertain significance	rs769773057	RCV001152330\|RCV001152331;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363339	148363339	5:g.148363339G>C	-
NM_024577.4(SH3TC2):c.*20882A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs112269889	RCV001152332\|RCV001152333;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363392	148363392	5:g.148363392T>C	-
NM_024577.4(SH3TC2):c.*20787G>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs76578570	RCV001153615\|RCV001153614;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148363487	148363487	5:g.148363487C>T	-
NM_024577.4(SH3TC2):c.*20773G>T	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs113020040	RCV000293099\|RCV000389542;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363501	148363501	NC_000005.9:g.148363501C>A	ClinGen:CA10623268	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20618C>T	79628	SH3TC2	Uncertain significance	rs370869298	RCV001153616\|RCV001153617;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148363656	148363656	5:g.148363656G>A	-
NM_024577.4(SH3TC2):c.*20564A>T	79628	SH3TC2	Likely benign	rs150905092	RCV000350349\|RCV000400474\|RCV002291622;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148363710	148363710	NC_000005.9:g.148363710T>A	ClinGen:CA10623104	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20553A>G	79628	SH3TC2	Uncertain significance	rs1419202542	RCV001156219\|RCV001156220;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363721	148363721	5:g.148363721T>C	-
NM_024577.4(SH3TC2):c.*20512C>A	79628	SH3TC2	Likely benign	rs76577532	RCV001156221\|RCV001156222;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148363762	148363762	5:g.148363762G>T	-
NM_024577.4(SH3TC2):c.*20469C>T	79628	SH3TC2	Uncertain significance	rs886060097	RCV000287666\|RCV000345014;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363805	148363805	NC_000005.9:g.148363805G>A	ClinGen:CA10623109	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20463T>C	79628	SH3TC2	Benign	rs77021631	RCV000305322\|RCV000391198;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363811	148363811	NC_000005.9:g.148363811A>G	ClinGen:CA10623272	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20412A>T	79628	SH3TC2	Uncertain significance	rs774453230	RCV000357564\|RCV000391191;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148363862	148363862	NC_000005.9:g.148363862T>A	ClinGen:CA10620554	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20400A>C	79628	SH3TC2	Uncertain significance	rs1019391321	RCV001157904\|RCV001157905;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148363874	148363874	5:g.148363874T>G	-
NM_024577.4(SH3TC2):c.*20362T>C	79628	SH3TC2	Uncertain significance	rs571268825	RCV000299282\|RCV000356486;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148363912	148363912	NC_000005.9:g.148363912A>G	ClinGen:CA10620555	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20230G>T	79628	SH3TC2	Uncertain significance	rs761890589	RCV001157906\|RCV001157907;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364044	148364044	5:g.148364044C>A	-
NM_024577.4(SH3TC2):c.*20207C>T	79628	SH3TC2	Benign	rs114079860	RCV001152430\|RCV001152431;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148364067	148364067	5:g.148364067G>A	-
NM_024577.4(SH3TC2):c.*20166T>A	79628	SH3TC2	Benign	rs17795091	RCV000259600\|RCV000317153;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364108	148364108	NC_000005.9:g.148364108A>T	ClinGen:CA10619397	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20142A>G	79628	SH3TC2	Benign/Likely benign	rs189978591	RCV000277208\|RCV000369435;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148364132	148364132	5:g.148364132T>C	ClinGen:CA10619411	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*20135C>T	79628	SH3TC2	Uncertain significance	rs1753303246	RCV001152432\|RCV001152433;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364139	148364139	5:g.148364139G>A	-
NM_024577.4(SH3TC2):c.*20099T>C	79628	SH3TC2	Likely benign	rs73795728	RCV001153706\|RCV001153705;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364175	148364175	5:g.148364175A>G	-
NM_024577.4(SH3TC2):c.*20086A>G	79628	SH3TC2	Uncertain significance	rs1753304105	RCV001153708\|RCV001153707;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364188	148364188	5:g.148364188T>C	-
NM_024577.4(SH3TC2):c.*19919T>C	79628	SH3TC2	Benign	rs2217638	RCV000290364\|RCV000328936;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148364355	148364355	5:g.148364355A>G	ClinGen:CA10619412	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19631T>A	79628	SH3TC2	Uncertain significance	rs961541157	RCV001156319\|RCV001156320;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148364643	148364643	5:g.148364643A>T	-
NM_024577.4(SH3TC2):c.*19573G>A	79628	SH3TC2	Benign	rs4560536	RCV000289231\|RCV000381325\|RCV001597114;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148364701	148364701	5:g.148364701C>T	ClinGen:CA10619418	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19552G>T	79628	SH3TC2	Uncertain significance	rs1410058775	RCV001156321\|RCV001156322;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364722	148364722	5:g.148364722C>A	-
NM_024577.4(SH3TC2):c.*19519G>A	79628	SH3TC2	Benign	rs10039839	RCV000297183\|RCV000398262\|RCV001618630;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148364755	148364755	5:g.148364755C>T	ClinGen:CA10619419	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19438C>A	79628	SH3TC2	Uncertain significance	rs533701005	RCV001157989\|RCV001157990;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148364836	148364836	5:g.148364836G>T	-
NM_024577.4(SH3TC2):c.*19411T>C	79628	SH3TC2	Uncertain significance	rs780022559	RCV000337994\|RCV000392724;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364863	148364863	5:g.148364863A>G	ClinGen:CA10620560	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19406A>T	79628	SH3TC2	Benign	rs72835351	RCV000312356\|RCV000366984\|RCV001662313;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148364868	148364868	5:g.148364868T>A	ClinGen:CA10619424	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19406A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs72835351	RCV000276857\|RCV000313276;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148364868	148364868	5:g.148364868T>C	ClinGen:CA10623115	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19342A>G	79628	SH3TC2	Uncertain significance	rs886060098	RCV000268808\|RCV000363327;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148364932	148364932	5:g.148364932T>C	ClinGen:CA10623281	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19270G>A	79628	SH3TC2	Benign/Likely benign	rs149188140	RCV000328254\|RCV000378199\|RCV002061262;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148365004	148365004	NC_000005.9:g.148365004C>T	ClinGen:CA10623288	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19250T>A	79628	SH3TC2	Uncertain significance	rs886060099	RCV000264818\|RCV000324724;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148365024	148365024	NC_000005.9:g.148365024A>T	ClinGen:CA10619425	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19182A>C	79628	SH3TC2	Uncertain significance	rs886060100	RCV000280260\|RCV000379473;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365092	148365092	NC_000005.9:g.148365092T>G	ClinGen:CA10623289	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19137C>G	79628	SH3TC2	Uncertain significance	rs773138258	RCV001153801\|RCV001153802;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365137	148365137	5:g.148365137G>C	-
NM_024577.4(SH3TC2):c.*19111G>T	79628	SH3TC2	Uncertain significance	rs1753319859	RCV001153803\|RCV001153804;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365163	148365163	5:g.148365163C>A	-
NM_024577.4(SH3TC2):c.*19040A>G	79628	SH3TC2	Benign	rs930205	RCV000335430\|RCV000375959;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365234	148365234	NC_000005.9:g.148365234T>C	ClinGen:CA10623116	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*19019T>C	79628	SH3TC2	Uncertain significance	rs777292025	RCV001156428\|RCV001156429;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365255	148365255	5:g.148365255A>G	-
NM_024577.4(SH3TC2):c.*19002A>G	79628	SH3TC2	Likely benign	rs546701780	RCV000280989\|RCV000350042;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365272	148365272	NC_000005.9:g.148365272T>C	ClinGen:CA10623118	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*18824T>C	79628	SH3TC2	Uncertain significance	rs1259040390	RCV001156430\|RCV001156431;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365450	148365450	5:g.148365450A>G	-
NM_024577.4(SH3TC2):c.*18699T>G	79628	SH3TC2	Benign	rs117371981	RCV001158092\|RCV001158091;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148365575	148365575	5:g.148365575A>C	-
NM_024577.4(SH3TC2):c.*18635C>T	79628	SH3TC2	Uncertain significance	rs886060101	RCV000315419\|RCV000400014;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365639	148365639	NC_000005.9:g.148365639G>A	ClinGen:CA10623119	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*18606T>G	79628	SH3TC2	Benign/Likely benign	rs182775401	RCV000351553\|RCV000407727;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365668	148365668	NC_000005.9:g.148365668A>C	ClinGen:CA10620561	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*18554G>T	79628	SH3TC2	Benign	rs10040598	RCV000307128\|RCV000366485;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148365720	148365720	NC_000005.9:g.148365720C>A	ClinGen:CA10623290	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*18476T>C	79628	SH3TC2	Likely benign	rs185251230	RCV000267724\|RCV000357764;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365798	148365798	NC_000005.9:g.148365798A>G	ClinGen:CA10623121	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*18471A>G	79628	SH3TC2	Uncertain significance	rs1753330424	RCV001152636\|RCV001152637;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365803	148365803	5:g.148365803T>C	-
NM_024577.4(SH3TC2):c.*18299C>T	79628	SH3TC2	Benign	rs147903089	RCV000322591\|RCV000372607;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148365975	148365975	NC_000005.9:g.148365975G>A	ClinGen:CA10623297	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*18234G>A	79628	SH3TC2	Uncertain significance	rs886060102	RCV000259380\|RCV000319230;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148366040	148366040	NC_000005.9:g.148366040C>T	ClinGen:CA10623300	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*18055C>A	79628	SH3TC2	Uncertain significance	rs912198904	RCV001153911\|RCV001153912;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148366219	148366219	5:g.148366219G>T	-
NM_024577.4(SH3TC2):c.*17934T>C	79628	SH3TC2	Uncertain significance	rs1753339081	RCV001153913\|RCV001153914;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148366340	148366340	5:g.148366340A>G	-
NM_024577.4(SH3TC2):c.*17903A>G	79628	SH3TC2	Benign	rs76444127	RCV000293743\|RCV000374153;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148366371	148366371	NC_000005.9:g.148366371T>C	ClinGen:CA10620566	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*17837T>G	79628	SH3TC2	Uncertain significance	rs1753341216	RCV001154764\|RCV001154765;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148366437	148366437	5:g.148366437A>C	-
NM_024577.4(SH3TC2):c.*17833T>G	79628	SH3TC2	Uncertain significance	rs886060103	RCV000329913\|RCV000389160;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148366441	148366441	NC_000005.9:g.148366441A>C	ClinGen:CA10619428	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*17703A>G	79628	SH3TC2	Benign	rs4235739	RCV000294977\|RCV000345191;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148366571	148366571	NC_000005.9:g.148366571T>C	ClinGen:CA10619429	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*17662T>C	79628	SH3TC2	Uncertain significance	rs556308084	RCV000291525\|RCV000400623;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148366612	148366612	NC_000005.9:g.148366612A>G	ClinGen:CA10623303	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*17482A>G	79628	SH3TC2	Uncertain significance	rs1753346855	RCV001158213\|RCV001158214;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148366792	148366792	5:g.148366792T>C	-
NM_024577.4(SH3TC2):c.*17317G>A	79628	SH3TC2	Benign	rs78254952	RCV000340671\|RCV000391130;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148366957	148366957	NC_000005.9:g.148366957C>T	ClinGen:CA10623304	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*17301T>A	79628	SH3TC2	Uncertain significance	rs1012900530	RCV001158215\|RCV001158216;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148366973	148366973	5:g.148366973A>T	-
NM_024577.4(SH3TC2):c.*17192C>T	79628	SH3TC2	Uncertain significance	rs886060104	RCV000305559\|RCV000360257;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367082	148367082	NC_000005.9:g.148367082G>A	ClinGen:CA10620568	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*17049C>G	79628	SH3TC2	Uncertain significance	rs1330263975	RCV001152738\|RCV001152737;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367225	148367225	5:g.148367225G>C	-
NM_024577.4(SH3TC2):c.*17036C>T	79628	SH3TC2	Uncertain significance	rs75086059	RCV000297268\|RCV000391134;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367238	148367238	NC_000005.9:g.148367238G>A	ClinGen:CA10620571	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*17036C>G	79628	SH3TC2	Benign	rs75086059	RCV000261925\|RCV000356659;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367238	148367238	NC_000005.9:g.148367238G>C	ClinGen:CA10623126	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16953T>C	79628	SH3TC2	Uncertain significance	rs948858895	RCV001154017\|RCV001154018;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367321	148367321	5:g.148367321A>G	-
NM_024577.4(SH3TC2):c.*16950T>C	79628	SH3TC2	Benign	rs10040798	RCV000330950\|RCV000366902;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367324	148367324	NC_000005.9:g.148367324A>G	ClinGen:CA10620577	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16947C>T	79628	SH3TC2	Likely benign	rs142551288	RCV000277098\|RCV000332177;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367327	148367327	NC_000005.9:g.148367327G>A	ClinGen:CA10619430	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16928A>G	79628	SH3TC2	Uncertain significance	rs760134609	RCV000287682\|RCV000381863;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367346	148367346	NC_000005.9:g.148367346T>C	ClinGen:CA10623311	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16905T>G	79628	SH3TC2	Uncertain significance	rs886060105	RCV000328594\|RCV000383158;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367369	148367369	NC_000005.9:g.148367369A>C	ClinGen:CA10623320	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16902G>A	79628	SH3TC2	Uncertain significance	rs886060107	RCV000336520\|RCV000400399;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367372	148367372	NC_000005.9:g.148367372C>T	ClinGen:CA10623321	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16855A>G	79628	SH3TC2	Uncertain significance	rs886060108	RCV000273191\|RCV000328216;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367419	148367419	NC_000005.9:g.148367419T>C	ClinGen:CA10619435	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16784C>T	79628	SH3TC2	Benign/Likely benign	rs144720540	RCV000267671\|RCV000376229;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367490	148367490	NC_000005.9:g.148367490G>A	ClinGen:CA10620585	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16720T>G	79628	SH3TC2	Uncertain significance	rs1753361070	RCV001156536\|RCV001156537;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367554	148367554	5:g.148367554A>C	-
NM_024577.4(SH3TC2):c.*16711C>G	79628	SH3TC2	Uncertain significance	rs886060109	RCV000322821\|RCV000372833;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367563	148367563	NC_000005.9:g.148367563G>C	ClinGen:CA10620587	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16631G>A	79628	SH3TC2	Benign	rs4705303	RCV000278313\|RCV000338018;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367643	148367643	NC_000005.9:g.148367643C>T	ClinGen:CA10620588	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16590A>G	79628	SH3TC2	Uncertain significance	rs564063667	RCV001152850\|RCV001152851;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367684	148367684	5:g.148367684T>C	-
NM_024577.4(SH3TC2):c.*16562G>T	79628	SH3TC2	Uncertain significance	rs369963209	RCV000293524\|RCV000373931;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367712	148367712	NC_000005.9:g.148367712C>A	ClinGen:CA10620590	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16557T>A	79628	SH3TC2	Uncertain significance	rs1389655483	RCV001152853\|RCV001152852;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367717	148367717	5:g.148367717A>T	-
NM_024577.4(SH3TC2):c.*16509A>G	79628	SH3TC2	Uncertain significance	rs886060110	RCV000348620\|RCV000401370;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367765	148367765	NC_000005.9:g.148367765T>C	ClinGen:CA10623133	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16507C>T	79628	SH3TC2	Uncertain significance	rs886060111	RCV000313625\|RCV000345124;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367767	148367767	NC_000005.9:g.148367767G>A	ClinGen:CA10623326	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16402G>T	79628	SH3TC2	Uncertain significance	rs1753366817	RCV001154126\|RCV001154125;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367872	148367872	5:g.148367872C>A	-
NM_024577.4(SH3TC2):c.*16395G>T	79628	SH3TC2	Likely benign	rs116508083	RCV001154127\|RCV001154128;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148367879	148367879	5:g.148367879C>A	-
NM_024577.4(SH3TC2):c.*16378C>A	79628	SH3TC2	Likely benign	rs144423228	RCV000310225\|RCV000392985;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367896	148367896	NC_000005.9:g.148367896G>T	ClinGen:CA10620591	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16293C>G	79628	SH3TC2	Uncertain significance	rs1753368592	RCV001154963\|RCV001154962;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148367981	148367981	5:g.148367981G>C	-
NM_024577.4(SH3TC2):c.*16261C>T	79628	SH3TC2	Uncertain significance	rs150690882	RCV000264522\|RCV000364939;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368013	148368013	NC_000005.9:g.148368013G>A	ClinGen:CA10619438	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16257T>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs572081330	RCV000303283\|RCV000360312;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368017	148368017	NC_000005.9:g.148368017A>G	ClinGen:CA10623134	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16174A>G	79628	SH3TC2	Uncertain significance	rs1753370916	RCV001154964\|RCV001154965;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368100	148368100	5:g.148368100T>C	-
NM_024577.4(SH3TC2):c.*16169G>A	79628	SH3TC2	Likely benign	rs191600511	RCV000267909\|RCV000316087;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368105	148368105	NC_000005.9:g.148368105C>T	ClinGen:CA10623135	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16056C>T	79628	SH3TC2	Uncertain significance	rs147906062	RCV000261844\|RCV000372924;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368218	148368218	NC_000005.9:g.148368218G>A	ClinGen:CA10623141	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16020A>C	79628	SH3TC2	Benign	rs4543254	RCV000319489\|RCV000385662\|RCV001709623;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148368254	148368254	NC_000005.9:g.148368254T>G	ClinGen:CA10623142	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*16015G>T	79628	SH3TC2	Uncertain significance	rs994438752	RCV001151169\|RCV001151170;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368259	148368259	5:g.148368259C>A	-
NM_024577.4(SH3TC2):c.*15967C>T	79628	SH3TC2	Uncertain significance	rs139941418	RCV001151171\|RCV001151172;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368307	148368307	5:g.148368307G>A	-
NM_024577.4(SH3TC2):c.*15877G>T	79628	SH3TC2	Uncertain significance	rs868551923	RCV001151173\|RCV001151174;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368397	148368397	5:g.148368397C>A	-
NM_024577.4(SH3TC2):c.*15824G>A	79628	SH3TC2	Uncertain significance	rs530880070	RCV000293481\|RCV000350771;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368450	148368450	NC_000005.9:g.148368450C>T	ClinGen:CA10623327	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15823T>C	79628	SH3TC2	Benign	rs4562031	RCV000287464\|RCV000389063\|RCV001618631;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148368451	148368451	NC_000005.9:g.148368451A>G	ClinGen:CA10620592	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15823T>A	79628	SH3TC2	Uncertain significance	rs4562031	RCV000345018\|RCV000399580;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368451	148368451	NC_000005.9:g.148368451A>T	ClinGen:CA10620594	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15680T>C	79628	SH3TC2	Uncertain significance	rs886060112	RCV000309882\|RCV000339144;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368594	148368594	NC_000005.9:g.148368594A>G	ClinGen:CA10623150	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15639A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs190478262	RCV001155078\|RCV001155079;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368635	148368635	5:g.148368635T>C	-
NM_024577.4(SH3TC2):c.*15489G>A	79628	SH3TC2	Likely benign	rs115194965	RCV000305978\|RCV000402233;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368785	148368785	NC_000005.9:g.148368785C>T	ClinGen:CA10623328	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15483T>C	79628	SH3TC2	Uncertain significance	rs971207143	RCV001155080\|RCV001155081;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148368791	148368791	5:g.148368791A>G	-
NM_024577.4(SH3TC2):c.*15385A>G	79628	SH3TC2	Uncertain significance	rs540944260	RCV001155082\|RCV001155083;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368889	148368889	5:g.148368889T>C	-
NM_024577.4(SH3TC2):c.*15383C>A	79628	SH3TC2	Uncertain significance	rs186004627	RCV000261368\|RCV000353886;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368891	148368891	NC_000005.9:g.148368891G>T	ClinGen:CA10623163	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15339G>A	79628	SH3TC2	Uncertain significance	rs886060113	RCV000300218\|RCV000357480;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148368935	148368935	NC_000005.9:g.148368935C>T	ClinGen:CA10623165	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15235A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs145210501	RCV000278016\|RCV000370222;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148369039	148369039	NC_000005.9:g.148369039T>C	ClinGen:CA10623333	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15125C>G	79628	SH3TC2	Uncertain significance	rs181229340	RCV000325921\|RCV000382887;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369149	148369149	NC_000005.9:g.148369149G>C	ClinGen:CA10619439	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15062G>A	79628	SH3TC2	Uncertain significance	rs886060115	RCV000290734\|RCV000329317;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148369212	148369212	NC_000005.9:g.148369212C>T	ClinGen:CA10619444	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15061C>T	79628	SH3TC2	Benign/Likely benign	rs115722370	RCV000284944\|RCV000377039\|RCV002244838;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148369213	148369213	NC_000005.9:g.148369213G>A	ClinGen:CA10623335	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*15049A>T	79628	SH3TC2	Uncertain significance	rs575869408	RCV001151291\|RCV001151292;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148369225	148369225	5:g.148369225T>A	-
NM_024577.4(SH3TC2):c.*14985A>G	79628	SH3TC2	Uncertain significance	rs886060116	RCV000341419\|RCV000399477;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369289	148369289	NC_000005.9:g.148369289T>C	ClinGen:CA10623168	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14894G>A	79628	SH3TC2	Benign/Likely benign	rs17109192	RCV000278089\|RCV000335454\|RCV001788204;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148369380	148369380	NC_000005.9:g.148369380C>T	ClinGen:CA10620595	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14856C>A	79628	SH3TC2	Benign	rs891920	RCV000300614\|RCV000398603\|RCV001692010;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148369418	148369418	NC_000005.9:g.148369418G>T	ClinGen:CA10623339	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14827T>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs569378409	RCV000366906\|RCV000391636;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369447	148369447	NC_000005.9:g.148369447A>T	ClinGen:CA10620597	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14781C>A	79628	SH3TC2	Uncertain significance	rs886060117	RCV000313567\|RCV000370552;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148369493	148369493	NC_000005.9:g.148369493G>T	ClinGen:CA10620599	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14766T>A	79628	SH3TC2	Benign	rs891919	RCV000269013\|RCV000326475\|RCV001541565;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148369508	148369508	NC_000005.9:g.148369508A>T	ClinGen:CA10623347	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14750A>G	79628	SH3TC2	Benign/Likely benign	rs149133999	RCV001155186\|RCV001155187\|RCV002225800;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148369524	148369524	5:g.148369524T>C	-
NM_024577.4(SH3TC2):c.*14628C>T	79628	SH3TC2	Uncertain significance	rs886060118	RCV000272842\|RCV000364847;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148369646	148369646	NC_000005.9:g.148369646G>A	ClinGen:CA10623169	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14621G>T	79628	SH3TC2	Benign	rs17795097	RCV000320874\|RCV000377777\|RCV001692011;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148369653	148369653	NC_000005.9:g.148369653C>A	ClinGen:CA10619445	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14562G>A	79628	SH3TC2	Benign	rs17109198	RCV000286776\|RCV000316177;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369712	148369712	NC_000005.9:g.148369712C>T	ClinGen:CA10623186	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14480A>G	79628	SH3TC2	Uncertain significance	rs564255234	RCV001156834\|RCV001156833;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369794	148369794	5:g.148369794T>C	-
NM_024577.4(SH3TC2):c.*14450A>C	79628	SH3TC2	Uncertain significance	rs758906397	RCV001156835\|RCV001156836;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369824	148369824	5:g.148369824T>G	-
NM_024577.4(SH3TC2):c.*14429T>G	79628	SH3TC2	Uncertain significance	rs577465518	RCV000280919\|RCV000373029;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148369845	148369845	NC_000005.9:g.148369845A>C	ClinGen:CA10623191	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14411G>A	79628	SH3TC2	Benign	rs143623684	RCV000338126\|RCV000397038;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148369863	148369863	NC_000005.9:g.148369863C>T	ClinGen:CA10623348	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*14397A>C	79628	SH3TC2	Uncertain significance	rs1753401888	RCV001151419\|RCV001151418;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369877	148369877	5:g.148369877T>G	-
NM_024577.4(SH3TC2):c.*14315A>C	79628	SH3TC2	Uncertain significance	rs762925324	RCV001151420\|RCV001151421;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148369959	148369959	5:g.148369959T>G	-
NM_024577.4(SH3TC2):c.*14188C>T	79628	SH3TC2	Likely benign	rs532583447	RCV001151422\|RCV001151423;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148370086	148370086	5:g.148370086G>A	-
NM_024577.4(SH3TC2):c.*14182A>G	79628	SH3TC2	Uncertain significance	rs374261707	RCV001154441\|RCV001154440;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148370092	148370092	5:g.148370092T>C	-
NM_024577.4(SH3TC2):c.*13923T>C	79628	SH3TC2	Uncertain significance	rs534282709	RCV000293710\|RCV000350981;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148370351	148370351	NC_000005.9:g.148370351A>G	ClinGen:CA10623197	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*13645C>T	79628	SH3TC2	Likely benign	rs180704051	RCV001154443\|RCV001154442;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148370629	148370629	5:g.148370629G>A	-
NM_024577.4(SH3TC2):c.*13598A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs141011337	RCV000306299\|RCV000400861;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148370676	148370676	NC_000005.9:g.148370676T>C	ClinGen:CA10623349	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*13514A>G	79628	SH3TC2	Benign	rs78516040	RCV000344811\|RCV000399486;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148370760	148370760	NC_000005.9:g.148370760T>C	ClinGen:CA10620605	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*13465C>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs186009343	RCV000309984\|RCV000357774;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148370809	148370809	NC_000005.9:g.148370809G>T	ClinGen:CA10619458	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*13418G>T	79628	SH3TC2	Uncertain significance	rs544487653	RCV001155280\|RCV001155281;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148370856	148370856	5:g.148370856C>A	-
NM_024577.4(SH3TC2):c.*13352G>A	79628	SH3TC2	Likely benign	rs192178726	RCV000265404\|RCV000304134;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148370922	148370922	NC_000005.9:g.148370922C>T	ClinGen:CA10623198	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*13293T>C	79628	SH3TC2	Uncertain significance	rs886060119	RCV000260125\|RCV000361873;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148370981	148370981	NC_000005.9:g.148370981A>G	ClinGen:CA10623199	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*13292G>T	79628	SH3TC2	Uncertain significance	rs1347035516	RCV001156946\|RCV001156947;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148370982	148370982	5:g.148370982C>A	-
NM_024577.4(SH3TC2):c.*13230C>T	79628	SH3TC2	Benign/Likely benign	rs138600983	RCV000317722\|RCV000374684;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371044	148371044	NC_000005.9:g.148371044G>A	ClinGen:CA10623215	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*13204A>G	79628	SH3TC2	Benign/Likely benign	rs141603977	RCV001156948\|RCV001156949;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371070	148371070	5:g.148371070T>C	-
NM_024577.4(SH3TC2):c.*13037G>A	79628	SH3TC2	Uncertain significance	rs769382913	RCV001151526\|RCV001151527;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148371237	148371237	5:g.148371237C>T	-
NM_024577.4(SH3TC2):c.*12969C>A	79628	SH3TC2	Benign	rs76955068	RCV000263449\|RCV000330256;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371305	148371305	NC_000005.9:g.148371305G>T	ClinGen:CA10623216	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12807G>A	79628	SH3TC2	Likely benign	rs150317192	RCV000295123\|RCV000387089;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148371467	148371467	NC_000005.9:g.148371467C>T	ClinGen:CA10619463	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12752T>A	79628	SH3TC2	Uncertain significance	rs886060120	RCV000352826\|RCV000381832;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371522	148371522	NC_000005.9:g.148371522A>T	ClinGen:CA10623217	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12710G>A	79628	SH3TC2	Uncertain significance	rs537800973	RCV001154543\|RCV001154542;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371564	148371564	5:g.148371564C>T	-
NM_024577.4(SH3TC2):c.*12653C>A	79628	SH3TC2	Uncertain significance	rs886060121	RCV000289766\|RCV000347001;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148371621	148371621	NC_000005.9:g.148371621G>T	ClinGen:CA10620607	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12637A>G	79628	SH3TC2	Likely benign	rs536941130	RCV000302456\|RCV000401801;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371637	148371637	NC_000005.9:g.148371637T>C	ClinGen:CA10620608	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12550A>G	79628	SH3TC2	Likely benign	rs137953180	RCV001154544\|RCV001154545;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371724	148371724	5:g.148371724T>C	-
NM_024577.4(SH3TC2):c.*12509T>C	79628	SH3TC2	Likely benign	rs550901114	RCV000341030\|RCV000402304;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371765	148371765	NC_000005.9:g.148371765A>G	ClinGen:CA10623223	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12442A>G	79628	SH3TC2	Uncertain significance	rs56848629	RCV001155374\|RCV001155375;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371832	148371832	5:g.148371832T>C	-
NM_024577.4(SH3TC2):c.*12356A>T	79628	SH3TC2	Uncertain significance	rs553936023	RCV001155376\|RCV001155377;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148371918	148371918	5:g.148371918T>A	-
NM_024577.4(SH3TC2):c.*12256G>T	79628	SH3TC2	Uncertain significance	rs753234712	RCV001155378\|RCV001155379;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372018	148372018	5:g.148372018C>A	-
NM_024577.4(SH3TC2):c.*12190G>A	79628	SH3TC2	Benign	rs116091693	RCV001157063\|RCV001157064;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372084	148372084	5:g.148372084C>T	-
NM_024577.4(SH3TC2):c.*12189C>T	79628	SH3TC2	Likely benign	rs192729911	RCV001157066\|RCV001157065;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372085	148372085	5:g.148372085G>A	-
NM_024577.4(SH3TC2):c.*12146C>G	79628	SH3TC2	Uncertain significance	rs886060123	RCV000261557\|RCV000300411;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372128	148372128	5:g.148372128G>C	ClinGen:CA10623226	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12126C>T	79628	SH3TC2	Uncertain significance	rs886060124	RCV000274646\|RCV000366990;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372148	148372148	5:g.148372148G>A	ClinGen:CA10620609	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*12111C>A	79628	SH3TC2	Uncertain significance	rs930165203	RCV001151610\|RCV001151609;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372163	148372163	5:g.148372163G>T	-
NM_024577.4(SH3TC2):c.*12010C>A	79628	SH3TC2	Uncertain significance	rs1221405889	RCV001151612\|RCV001151611;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372264	148372264	5:g.148372264G>T	-
NM_024577.4(SH3TC2):c.*12009T>C	79628	SH3TC2	Uncertain significance	rs1753441242	RCV001151613\|RCV001151614;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372265	148372265	5:g.148372265A>G	-
NM_024577.4(SH3TC2):c.*11934A>G	79628	SH3TC2	Uncertain significance	rs1753442184	RCV001151616\|RCV001151615;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372340	148372340	5:g.148372340T>C	-
NM_024577.4(SH3TC2):c.*11927T>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs75711075	RCV001154662\|RCV001154661;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372347	148372347	5:g.148372347A>G	-
NM_024577.4(SH3TC2):c.*11852G>T	79628	SH3TC2	Benign	rs13359285	RCV000275788\|RCV000370351\|RCV001725175;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148372422	148372422	5:g.148372422C>A	ClinGen:CA10623227	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11803A>G	79628	SH3TC2	Uncertain significance	rs1051316908	RCV001154663\|RCV001154664;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372471	148372471	5:g.148372471T>C	-
NM_024577.4(SH3TC2):c.*11680C>T	79628	SH3TC2	Uncertain significance	rs893213252	RCV001154665\|RCV001154666;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372594	148372594	5:g.148372594G>A	-
NM_024577.4(SH3TC2):c.*11621G>A	79628	SH3TC2	Uncertain significance	rs886060128	RCV000330764\|RCV000366783;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372653	148372653	5:g.148372653C>T	ClinGen:CA10620635	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11604G>A	79628	SH3TC2	Benign/Likely benign	rs143229015	RCV001155497\|RCV001155496\|RCV002222669;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148372670	148372670	5:g.148372670C>T	-
NM_024577.4(SH3TC2):c.*11593G>A	79628	SH3TC2	Uncertain significance	rs886060129	RCV000262924\|RCV000318085;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372681	148372681	5:g.148372681C>T	ClinGen:CA10619473	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11589C>T	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs189059447	RCV001155498\|RCV001155499;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372685	148372685	5:g.148372685G>A	-
NM_024577.4(SH3TC2):c.*11542G>A	79628	SH3TC2	Uncertain significance	rs886060130	RCV000278290\|RCV000372837;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372732	148372732	NC_000005.9:g.148372732C>T	ClinGen:CA10623228	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11506C>T	79628	SH3TC2	Uncertain significance	rs886060131	RCV000323464\|RCV000378155;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372768	148372768	NC_000005.9:g.148372768G>A	ClinGen:CA10620636	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11427G>A	79628	SH3TC2	Likely benign	rs535822101	RCV001157179\|RCV001157180;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372847	148372847	5:g.148372847C>T	-
NM_024577.4(SH3TC2):c.*11390A>G	79628	SH3TC2	Benign	rs3213854	RCV000283510\|RCV000347834\|RCV001613159;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148372884	148372884	NC_000005.9:g.148372884T>C	ClinGen:CA10623232	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11357G>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs147502432	RCV001151720\|RCV001151721;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148372917	148372917	5:g.148372917C>T	-
NM_024577.4(SH3TC2):c.*11299C>G	79628	SH3TC2	Uncertain significance	rs547464453	RCV001151722\|RCV001151723;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148372975	148372975	5:g.148372975G>C	-
NM_024577.4(SH3TC2):c.*11160C>T	79628	SH3TC2	Uncertain significance	rs886060132	RCV000289308\|RCV000395880;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373114	148373114	NC_000005.9:g.148373114G>A	ClinGen:CA10623235	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11120G>A	79628	SH3TC2	Benign/Likely benign	rs2069087	RCV000344180\|RCV000401274\|RCV001785585;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148373154	148373154	NC_000005.9:g.148373154C>T	ClinGen:CA10620638	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11055T>C	79628	SH3TC2	Uncertain significance	rs886060133	RCV000314294\|RCV000368951;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373219	148373219	NC_000005.9:g.148373219A>G	ClinGen:CA10623354	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11054G>C	79628	SH3TC2	Uncertain significance	rs886060134	RCV000301513\|RCV000399276;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373220	148373220	NC_000005.9:g.148373220C>G	ClinGen:CA10623357	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*11010A>G	79628	SH3TC2	Benign/Likely benign	rs114735628	RCV000261489\|RCV000356076;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373264	148373264	NC_000005.9:g.148373264T>C	ClinGen:CA10619474	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10984G>T	79628	SH3TC2	Uncertain significance	rs868782614	RCV000316686\|RCV000361946;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373290	148373290	NC_000005.9:g.148373290C>A	ClinGen:CA10619480	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10968G>A	79628	SH3TC2	Benign	rs13166730	RCV000266379\|RCV000321531\|RCV001675858;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148373306	148373306	NC_000005.9:g.148373306C>T	ClinGen:CA10623237	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10875T>C	79628	SH3TC2	Likely benign	rs184560843	RCV000291029\|RCV000376045;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373399	148373399	NC_000005.9:g.148373399A>G	ClinGen:CA10623358	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10864G>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs189701174	RCV000327456\|RCV000381991\|RCV001785586;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148373410	148373410	NC_000005.9:g.148373410C>T	ClinGen:CA10623238	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10863C>T	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs181346624	RCV000287675\|RCV000351979;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373411	148373411	NC_000005.9:g.148373411G>A	ClinGen:CA10619481	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10802A>T	79628	SH3TC2	Uncertain significance	rs547788921	RCV001157275\|RCV001157276;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373472	148373472	5:g.148373472T>A	-
NM_024577.4(SH3TC2):c.*10767G>A	79628	SH3TC2	Benign/Likely benign	rs139720866	RCV000294132\|RCV000387936\|RCV001785587;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148373507	148373507	NC_000005.9:g.148373507C>T	ClinGen:CA10623359	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10765A>G	79628	SH3TC2	Uncertain significance	rs1753461440	RCV001157277\|RCV001157278;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148373509	148373509	5:g.148373509T>C	-
NM_024577.4(SH3TC2):c.*10756G>T	79628	SH3TC2	Uncertain significance	rs886060135	RCV000349024\|RCV000402208;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373518	148373518	NC_000005.9:g.148373518C>A	ClinGen:CA10619484	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10672A>C	79628	SH3TC2	Uncertain significance	rs1753463315	RCV001151825\|RCV001151826;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373602	148373602	5:g.148373602T>G	-
NM_024577.4(SH3TC2):c.*10614G>A	79628	SH3TC2	Benign	rs114217114	RCV001151827\|RCV001151828;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148373660	148373660	5:g.148373660C>T	-
NM_024577.4(SH3TC2):c.*10573T>C	79628	SH3TC2	Uncertain significance	rs886060136	RCV000299848\|RCV000336146;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373701	148373701	NC_000005.9:g.148373701A>G	ClinGen:CA10623239	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10560T>C	79628	SH3TC2	Uncertain significance	rs1753464929	RCV001153073\|RCV001153072;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148373714	148373714	5:g.148373714A>G	-
NM_024577.4(SH3TC2):c.*10546C>T	79628	SH3TC2	Uncertain significance	rs186003687	RCV000305748\|RCV000401100;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373728	148373728	NC_000005.9:g.148373728G>A	ClinGen:CA10620651	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10505A>G	79628	SH3TC2	Uncertain significance	rs886060137	RCV000264415\|RCV000359130;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373769	148373769	NC_000005.9:g.148373769T>C	ClinGen:CA10623240	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10485G>A	79628	SH3TC2	Benign	rs76931184	RCV000310264\|RCV000364978;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148373789	148373789	NC_000005.9:g.148373789C>T	ClinGen:CA10623361	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10395A>G	79628	SH3TC2	Uncertain significance	rs1753468263	RCV001155690\|RCV001155691;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148373879	148373879	5:g.148373879T>C	-
NM_024577.4(SH3TC2):c.*10230A>C	79628	SH3TC2	Uncertain significance	rs1246060970	RCV001155692\|RCV001155693;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374044	148374044	5:g.148374044T>G	-
NM_024577.4(SH3TC2):c.*10177T>A	79628	SH3TC2	Uncertain significance	rs149759395	RCV000270375\|RCV000325424;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374097	148374097	NC_000005.9:g.148374097A>T	ClinGen:CA10623362	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10132A>G	79628	SH3TC2	Uncertain significance	rs886060138	RCV000276160\|RCV000389260;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374142	148374142	NC_000005.9:g.148374142T>C	ClinGen:CA10619485	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10120C>A	79628	SH3TC2	Benign	rs13355933	RCV000330838\|RCV000385391;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374154	148374154	NC_000005.9:g.148374154G>T	ClinGen:CA10620652	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10113T>C	79628	SH3TC2	Uncertain significance	rs908427102	RCV001157377\|RCV001157378;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374161	148374161	5:g.148374161A>G	-
NM_024577.4(SH3TC2):c.*10111T>C	79628	SH3TC2	Uncertain significance	rs943889013	RCV001157379\|RCV001157380;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374163	148374163	5:g.148374163A>G	-
NM_024577.4(SH3TC2):c.*10105C>T	79628	SH3TC2	Uncertain significance	rs753563756	RCV000269247\|RCV000363933;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374169	148374169	NC_000005.9:g.148374169G>A	ClinGen:CA10623369	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10103A>T	79628	SH3TC2	Uncertain significance	rs754724940	RCV000315137\|RCV000369767;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374171	148374171	NC_000005.9:g.148374171T>A	ClinGen:CA10620657	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10101C>T	79628	SH3TC2	Benign	rs552099019	RCV000275524\|RCV000330667;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374173	148374173	NC_000005.9:g.148374173G>A	ClinGen:CA10623244	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10099A>T	79628	SH3TC2	Benign	rs570266229	RCV000262460\|RCV000375957;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374175	148374175	NC_000005.9:g.148374175T>A	ClinGen:CA10620658	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10083A>G	79628	SH3TC2	Uncertain significance	rs886060141	RCV000317887\|RCV000372504;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374191	148374191	NC_000005.9:g.148374191T>C	ClinGen:CA10619486	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10079A>G	79628	SH3TC2	Uncertain significance	rs886060142	RCV000287256\|RCV000323612;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374195	148374195	NC_000005.9:g.148374195T>C	ClinGen:CA10623372	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10068C>A	79628	SH3TC2	Uncertain significance	rs1042787317	RCV001153174\|RCV001153173;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374206	148374206	5:g.148374206G>T	-
NM_024577.4(SH3TC2):c.*10064C>T	79628	SH3TC2	Uncertain significance	rs904197605	RCV001153175\|RCV001153176;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374210	148374210	5:g.148374210G>A	-
NM_024577.4(SH3TC2):c.*10060C>A	79628	SH3TC2	Uncertain significance	rs886060143	RCV000290978\|RCV000376112;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374214	148374214	5:g.148374214G>T	ClinGen:CA10619490	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10052C>T	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs113802539	RCV000346026\|RCV000395736\|RCV002221529;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148374222	148374222	5:g.148374222G>A	ClinGen:CA10623373	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10022A>T	79628	SH3TC2	Uncertain significance	rs56245745	RCV000287607\|RCV000351923;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374252	148374252	5:g.148374252T>A	ClinGen:CA10623379	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10018A>T	79628	SH3TC2	Uncertain significance	rs866934630	RCV000311774\|RCV000400168;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374256	148374256	5:g.148374256T>A	ClinGen:CA10620661	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10014T>A	79628	SH3TC2	Uncertain significance	rs56162234	RCV001155780\|RCV001155779;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374260	148374260	5:g.148374260A>T	-
NM_024577.4(SH3TC2):c.*10010A>T	79628	SH3TC2	Uncertain significance	rs886060145	RCV000261007\|RCV000323158;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374264	148374264	5:g.148374264T>A	ClinGen:CA10623245	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*10006A>T	79628	SH3TC2	Uncertain significance	rs201998002	RCV000321847\|RCV000383465;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374268	148374268	5:g.148374268T>A	ClinGen:CA10623246	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9972T>C	79628	SH3TC2	Uncertain significance	rs778531473	RCV000293364\|RCV000336619;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374302	148374302	5:g.148374302A>G	ClinGen:CA10623247	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9969T>C	79628	SH3TC2	Uncertain significance	rs761191045	RCV000296977\|RCV000395054;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374305	148374305	5:g.148374305A>G	ClinGen:CA10619494	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9953C>T	79628	SH3TC2	Likely benign	rs535186520	RCV000354229\|RCV000401347;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374321	148374321	5:g.148374321G>A	ClinGen:CA10623249	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9872T>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs545698794	RCV001152018\|RCV001152019;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374402	148374402	5:g.148374402A>G	-
NM_024577.4(SH3TC2):c.*9830C>T	79628	SH3TC2	Uncertain significance	rs557247993	RCV000305409\|RCV000357818;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374444	148374444	NC_000005.9:g.148374444G>A	ClinGen:CA10619499	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9504G>A	79628	SH3TC2	Benign	rs17722113	RCV001152021\|RCV001152020;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148374770	148374770	5:g.148374770C>T	-
NM_024577.4(SH3TC2):c.*9503C>T	79628	SH3TC2	Uncertain significance	rs533786708	RCV000271812\|RCV000329260;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374771	148374771	NC_000005.9:g.148374771G>A	ClinGen:CA10619500	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9466A>C	79628	SH3TC2	Uncertain significance	rs980542009	RCV001153283\|RCV001153284;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374808	148374808	5:g.148374808T>G	-
NM_024577.4(SH3TC2):c.*9445A>G	79628	SH3TC2	Uncertain significance	rs1422098391	RCV001153285\|RCV001153286;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374829	148374829	5:g.148374829T>C	-
NM_024577.4(SH3TC2):c.*9361C>T	79628	SH3TC2	Likely benign	rs573872364	RCV000270656\|RCV000362840;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374913	148374913	NC_000005.9:g.148374913G>A	ClinGen:CA10623394	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9357T>G	79628	SH3TC2	Uncertain significance	rs147996031	RCV000332580\|RCV000389366;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374917	148374917	NC_000005.9:g.148374917A>C	ClinGen:CA10623395	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9357T>C	79628	SH3TC2	Uncertain significance	rs147996031	RCV001155883\|RCV001155884;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374917	148374917	5:g.148374917A>G	-
NM_024577.4(SH3TC2):c.*9340G>C	79628	SH3TC2	Uncertain significance	rs886060147	RCV000274000\|RCV000331446;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148374934	148374934	NC_000005.9:g.148374934C>G	ClinGen:CA10623250	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9233T>A	79628	SH3TC2	Uncertain significance	rs886060148	RCV000282525\|RCV000374725;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375041	148375041	NC_000005.9:g.148375041A>T	ClinGen:CA10623396	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9193A>G	79628	SH3TC2	Uncertain significance	rs543374482	RCV001157587\|RCV001157588;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375081	148375081	5:g.148375081T>C	-
NM_024577.4(SH3TC2):c.*9122G>A	79628	SH3TC2	Uncertain significance	rs1430233185	RCV001157589\|RCV001157590;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375152	148375152	5:g.148375152C>T	-
NM_024577.4(SH3TC2):c.*9073G>C	79628	SH3TC2	Uncertain significance	rs886060150	RCV000286236\|RCV000343553;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375201	148375201	NC_000005.9:g.148375201C>G	ClinGen:CA10620666	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*9034A>G	79628	SH3TC2	Uncertain significance	rs750855366	RCV001157591\|RCV001157592;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375240	148375240	5:g.148375240T>C	-
NM_024577.4(SH3TC2):c.*9026A>T	79628	SH3TC2	Uncertain significance	rs1000086928	RCV001152121\|RCV001152120;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375248	148375248	5:g.148375248T>A	-
NM_024577.4(SH3TC2):c.*8878T>A	79628	SH3TC2	Uncertain significance	rs886060151	RCV000303850\|RCV000394149;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375396	148375396	NC_000005.9:g.148375396A>T	ClinGen:CA10623397	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8756G>T	79628	SH3TC2	Benign	rs7733177	RCV000345946\|RCV000402001;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375518	148375518	NC_000005.9:g.148375518C>A	ClinGen:CA10620669	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8748G>A	79628	SH3TC2	Uncertain significance	rs190904760	RCV000306301\|RCV000363381;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375526	148375526	NC_000005.9:g.148375526C>T	ClinGen:CA10623402	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8692T>C	79628	SH3TC2	Uncertain significance	rs559844045	RCV001153395\|RCV001153396;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375582	148375582	5:g.148375582A>G	-
NM_024577.4(SH3TC2):c.*8649A>G	79628	SH3TC2	Uncertain significance	rs914913642	RCV001153397\|RCV001153398;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375625	148375625	5:g.148375625T>C	-
NM_024577.4(SH3TC2):c.*8567G>A	79628	SH3TC2	Uncertain significance	rs369239776	RCV000275424\|RCV000367681;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375707	148375707	NC_000005.9:g.148375707C>T	ClinGen:CA10619502	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8533A>G	79628	SH3TC2	Likely benign	rs139372772	RCV001153399\|RCV001153400;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375741	148375741	5:g.148375741T>C	-
NM_024577.4(SH3TC2):c.*8521C>A	79628	SH3TC2	Uncertain significance	rs886060152	RCV000318751\|RCV000375700;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375753	148375753	NC_000005.9:g.148375753G>T	ClinGen:CA10623403	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8423T>C	79628	SH3TC2	Uncertain significance	rs10036103	RCV000339585\|RCV000377925;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375851	148375851	NC_000005.9:g.148375851A>G	ClinGen:CA10623256	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8364C>T	79628	SH3TC2	Uncertain significance	rs886060154	RCV000291405\|RCV000343966;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375910	148375910	NC_000005.9:g.148375910G>A	ClinGen:CA10623257	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8349T>C	79628	SH3TC2	Uncertain significance	rs565407418	RCV001156003\|RCV001156004;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375925	148375925	5:g.148375925A>G	-
NM_024577.4(SH3TC2):c.*8313G>A	79628	SH3TC2	Uncertain significance	rs770951592	RCV000313580\|RCV000396118;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375961	148375961	NC_000005.9:g.148375961C>T	ClinGen:CA10623259	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8283A>T	79628	SH3TC2	Uncertain significance	rs780934660	RCV000352255\|RCV000396101;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148375991	148375991	NC_000005.9:g.148375991T>A	ClinGen:CA10619506	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8277G>A	79628	SH3TC2	Likely benign	rs147532508	RCV000312606\|RCV000355706;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148375997	148375997	NC_000005.9:g.148375997C>T	ClinGen:CA10623408	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8261G>A	79628	SH3TC2	Uncertain significance	rs1753511260	RCV001157714\|RCV001157715;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376013	148376013	5:g.148376013C>T	-
NM_024577.4(SH3TC2):c.*8248G>C	79628	SH3TC2	Benign	rs56309414	RCV000262747\|RCV000296872;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148376026	148376026	NC_000005.9:g.148376026C>G	ClinGen:CA10623269	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8217A>G	79628	SH3TC2	Uncertain significance	rs768467653	RCV000266735\|RCV000354130;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376057	148376057	NC_000005.9:g.148376057T>C	ClinGen:CA10620673	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8216T>C	79628	SH3TC2	Uncertain significance	rs886060155	RCV000324197\|RCV000357876;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148376058	148376058	NC_000005.9:g.148376058A>G	ClinGen:CA10619507	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8111A>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs17109205	RCV000265443\|RCV000327587\|RCV001672653;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148376163	148376163	NC_000005.9:g.148376163T>G	ClinGen:CA10623409	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8077A>G	79628	SH3TC2	Uncertain significance	rs886060156	RCV000288175\|RCV000384927;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376197	148376197	NC_000005.9:g.148376197T>C	ClinGen:CA10623271	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8053G>A	79628	SH3TC2	Benign/Likely benign	rs115027318	RCV000326899\|RCV000388414\|RCV002222492;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148376221	148376221	NC_000005.9:g.148376221C>T	ClinGen:CA10623415	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*8038A>G	79628	SH3TC2	Uncertain significance	rs988158680	RCV001153514\|RCV001153513;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376236	148376236	5:g.148376236T>C	-
NM_024577.4(SH3TC2):c.*7939C>A	79628	SH3TC2	Likely benign	rs144288040	RCV000296251\|RCV000348850;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148376335	148376335	NC_000005.9:g.148376335G>T	ClinGen:CA10623417	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7918C>T	79628	SH3TC2	Benign/Likely benign	rs148732819	RCV001156118\|RCV001156119;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376356	148376356	5:g.148376356G>A	-
NM_024577.4(SH3TC2):c.*7917A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs546816780	RCV001156121\|RCV001156120;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376357	148376357	5:g.148376357T>C	-
NM_024577.4(SH3TC2):c.*7898A>G	79628	SH3TC2	Uncertain significance	rs1196588420	RCV001156123\|RCV001156122;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376376	148376376	5:g.148376376T>C	-
NM_024577.4(SH3TC2):c.*7877A>G	79628	SH3TC2	Uncertain significance	rs374095669	RCV001156124\|RCV001156125;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376397	148376397	5:g.148376397T>C	-
NM_024577.4(SH3TC2):c.*7810T>A	79628	SH3TC2	Likely benign	rs57517567	RCV001157807\|RCV001157808\|RCV002222670;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148376464	148376464	5:g.148376464A>T	-
NM_024577.4(SH3TC2):c.*7570G>A	79628	SH3TC2	Uncertain significance	rs886060157	RCV000281123\|RCV000394897;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376704	148376704	NC_000005.9:g.148376704C>T	ClinGen:CA10623274	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7452G>A	79628	SH3TC2	Uncertain significance	rs761137746	RCV000338779\|RCV000394903;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376822	148376822	NC_000005.9:g.148376822C>T	ClinGen:CA10620674	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7451C>T	79628	SH3TC2	Benign	rs114534145	RCV001157809\|RCV001157810;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376823	148376823	5:g.148376823G>A	-
NM_024577.4(SH3TC2):c.*7394A>G	79628	SH3TC2	Uncertain significance	rs886060158	RCV000298915\|RCV000360703;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148376880	148376880	NC_000005.9:g.148376880T>C	ClinGen:CA10619509	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7391A>C	79628	SH3TC2	Uncertain significance	rs886060159	RCV000302606\|RCV000400103;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148376883	148376883	NC_000005.9:g.148376883T>G	ClinGen:CA10623275	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7292C>T	79628	SH3TC2	Benign	rs1347130	RCV000272148\|RCV000359756;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148376982	148376982	5:g.148376982G>A	ClinGen:CA10623276	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7291G>A	79628	SH3TC2	Uncertain significance	rs748202204	RCV000324920\|RCV000363308;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148376983	148376983	5:g.148376983C>T	ClinGen:CA10619510	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7285G>C	79628	SH3TC2	Uncertain significance	rs886060160	RCV000275566\|RCV000330633;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148376989	148376989	5:g.148376989C>G	ClinGen:CA10623277	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7256A>C	79628	SH3TC2	Uncertain significance	rs886060161	RCV000317655\|RCV000372325;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377018	148377018	5:g.148377018T>G	ClinGen:CA10620676	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7254A>T	79628	SH3TC2	Uncertain significance	rs1054000517	RCV001153618\|RCV001153619;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377020	148377020	5:g.148377020T>A	-
NM_024577.4(SH3TC2):c.*7251A>G	79628	SH3TC2	Benign	rs73795731	RCV001153621\|RCV001153620;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377023	148377023	5:g.148377023T>C	-
NM_024577.4(SH3TC2):c.*7197G>C	79628	SH3TC2	Uncertain significance	rs886060162	RCV000282366\|RCV000337334;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377077	148377077	5:g.148377077C>G	ClinGen:CA10623424	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*7189C>A	79628	SH3TC2	Uncertain significance	rs886060163	RCV001156224\|RCV001156223;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377085	148377085	5:g.148377085G>T	-
NM_024577.4(SH3TC2):c.*7152G>A	79628	SH3TC2	Uncertain significance	rs1753532056	RCV001156225\|RCV001156226;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377122	148377122	5:g.148377122C>T	-
NM_024577.4(SH3TC2):c.*7064A>G	79628	SH3TC2	Uncertain significance	rs1027337341	RCV001156227\|RCV001156228;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377210	148377210	5:g.148377210T>C	-
NM_024577.4(SH3TC2):c.*7006T>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs187720692	RCV000308209\|RCV000362853;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377268	148377268	5:g.148377268A>G	ClinGen:CA10619514	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6993T>C	79628	SH3TC2	Likely benign	rs563203537	RCV000308969\|RCV000398515;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377281	148377281	5:g.148377281A>G	ClinGen:CA10619515	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6836T>C	79628	SH3TC2	Uncertain significance	rs757138006	RCV000314892\|RCV000369545;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377438	148377438	5:g.148377438A>G	ClinGen:CA10623430	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6820T>C	79628	SH3TC2	Likely benign	rs60176324	RCV000260892\|RCV000316168;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377454	148377454	5:g.148377454A>G	ClinGen:CA10619516	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6692A>G	79628	SH3TC2	Benign	rs11168078	RCV000262086\|RCV000374871\|RCV001672654;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148377582	148377582	NC_000005.9:g.148377582T>C	ClinGen:CA10620677	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6682G>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs557452648	RCV000321902\|RCV000376515;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377592	148377592	NC_000005.9:g.148377592C>G	ClinGen:CA10623437	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6627C>T	79628	SH3TC2	Uncertain significance	rs536731603	RCV001152435\|RCV001152434;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377647	148377647	5:g.148377647G>A	-
NM_024577.4(SH3TC2):c.*6623G>A	79628	SH3TC2	Benign	rs78100143	RCV000286628\|RCV000341652;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377651	148377651	NC_000005.9:g.148377651C>T	ClinGen:CA10623284	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6600T>C	79628	SH3TC2	Likely benign	rs115541211	RCV001153709\|RCV001153710\|RCV002255176;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148377674	148377674	5:g.148377674A>G	-
NM_024577.4(SH3TC2):c.*6557T>C	79628	SH3TC2	Uncertain significance	rs199797914	RCV000346685\|RCV000395982;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377717	148377717	NC_000005.9:g.148377717A>G	ClinGen:CA10623285	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6510G>A	79628	SH3TC2	Benign/Likely benign	rs116056843	RCV000311730\|RCV000352564\|RCV002058514;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148377764	148377764	NC_000005.9:g.148377764C>T	ClinGen:CA10619521	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6470T>C	79628	SH3TC2	Benign/Likely benign	rs185164450	RCV000298822\|RCV000395961\|RCV002255147;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148377804	148377804	NC_000005.9:g.148377804A>G	ClinGen:CA10619526	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6436G>T	79628	SH3TC2	Benign	rs11168079	RCV000263506\|RCV000353656\|RCV001672655;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148377838	148377838	NC_000005.9:g.148377838C>A	ClinGen:CA10620678	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6392C>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs114817736	RCV000300137\|RCV000359615;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377882	148377882	NC_000005.9:g.148377882G>T	ClinGen:CA10620679	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6392C>T	79628	SH3TC2	Benign/Likely benign	rs114817736	RCV001156324\|RCV001156323\|RCV001785790;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148377882	148377882	5:g.148377882G>A	-
NM_024577.4(SH3TC2):c.*6382T>C	79628	SH3TC2	Uncertain significance	rs528052888	RCV001156325\|RCV001156326;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377892	148377892	5:g.148377892A>G	-
NM_024577.4(SH3TC2):c.*6350G>A	79628	SH3TC2	Likely benign	rs184940808	RCV000264933\|RCV000324763;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148377924	148377924	NC_000005.9:g.148377924C>T	ClinGen:CA10623441	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6302T>A	79628	SH3TC2	Likely benign	rs545169695	RCV000270908\|RCV000379401;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148377972	148377972	NC_000005.9:g.148377972A>T	ClinGen:CA10619528	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6301C>T	79628	SH3TC2	Likely benign	rs188143654	RCV000326010\|RCV000385241\|RCV002266956;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148377973	148377973	NC_000005.9:g.148377973G>A	ClinGen:CA10623286	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6242A>G	79628	SH3TC2	Benign/Likely benign	rs142279453	RCV000290916\|RCV000350516\|RCV002222493;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148378032	148378032	NC_000005.9:g.148378032T>C	ClinGen:CA10623291	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6162C>T	79628	SH3TC2	Benign/Likely benign	rs17795115	RCV000296690\|RCV000386348\|RCV001785589;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148378112	148378112	NC_000005.9:g.148378112G>A	ClinGen:CA10623292	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6104C>T	79628	SH3TC2	Uncertain significance	rs556527140	RCV000351536\|RCV000395200;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378170	148378170	NC_000005.9:g.148378170G>A	ClinGen:CA10623442	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6051G>A	79628	SH3TC2	Benign	rs146293131	RCV000297850\|RCV000338730;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378223	148378223	NC_000005.9:g.148378223C>T	ClinGen:CA10620680	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*6047T>A	79628	SH3TC2	Benign/Likely benign	rs139490756	RCV000303505\|RCV000395208;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378227	148378227	NC_000005.9:g.148378227A>T	ClinGen:CA10619531	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5999G>A	79628	SH3TC2	Benign	rs79866394	RCV000358333\|RCV000401263;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378275	148378275	NC_000005.9:g.148378275C>T	ClinGen:CA10620682	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5947C>G	79628	SH3TC2	Benign/Likely benign	rs143516557	RCV001153806\|RCV001153805;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378327	148378327	5:g.148378327G>C	-
NM_024577.4(SH3TC2):c.*5933G>A	79628	SH3TC2	Uncertain significance	rs886060165	RCV000304751\|RCV000364045;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378341	148378341	NC_000005.9:g.148378341C>T	ClinGen:CA10623449	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5820A>G	79628	SH3TC2	Uncertain significance	rs1309341884	RCV001153808\|RCV001153807;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378454	148378454	5:g.148378454T>C	-
NM_024577.4(SH3TC2):c.*5799C>T	79628	SH3TC2	Benign	rs17109208	RCV000269392\|RCV000329147\|RCV001618632;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148378475	148378475	NC_000005.9:g.148378475G>A	ClinGen:CA10623294	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5748G>A	79628	SH3TC2	Uncertain significance	rs1038952809	RCV001156433\|RCV001156432;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378526	148378526	5:g.148378526C>T	-
NM_024577.4(SH3TC2):c.*5741G>A	79628	SH3TC2	Uncertain significance	rs538159827	RCV001156434\|RCV001156435;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378533	148378533	5:g.148378533C>T	-
NM_024577.4(SH3TC2):c.*5740C>T	79628	SH3TC2	Uncertain significance	rs886060167	RCV000333513\|RCV000387989;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378534	148378534	NC_000005.9:g.148378534G>A	ClinGen:CA10619534	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5689A>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs537285537	RCV000279647\|RCV000316081;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148378585	148378585	NC_000005.9:g.148378585T>G	ClinGen:CA10620685	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5666A>G	79628	SH3TC2	Uncertain significance	rs749263197	RCV000280392\|RCV000375385;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378608	148378608	NC_000005.9:g.148378608T>C	ClinGen:CA10623450	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5576C>T	79628	SH3TC2	Uncertain significance	rs886060168	RCV000286701\|RCV000341747;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378698	148378698	NC_000005.9:g.148378698G>A	ClinGen:CA10623296	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5536T>G	79628	SH3TC2	Benign/Likely benign	rs146756049	RCV001158093\|RCV001158094;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378738	148378738	5:g.148378738A>C	-
NM_024577.4(SH3TC2):c.*5490G>A	79628	SH3TC2	Benign	rs1432795	RCV000306552\|RCV000394381\|RCV001597115;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148378784	148378784	NC_000005.9:g.148378784C>T	ClinGen:CA10623457	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5419G>A	79628	SH3TC2	Uncertain significance	rs886060169	RCV000366019\|RCV000394387;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378855	148378855	NC_000005.9:g.148378855C>T	ClinGen:CA10619535	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5368C>T	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs189202481	RCV000312808\|RCV000367506;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378906	148378906	NC_000005.9:g.148378906G>A	ClinGen:CA10619552	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5350G>A	79628	SH3TC2	Uncertain significance	rs1753560296	RCV001153915\|RCV001153916;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378924	148378924	5:g.148378924C>T	-
NM_024577.4(SH3TC2):c.*5305C>A	79628	SH3TC2	Uncertain significance	rs886060170	RCV000277476\|RCV000332526;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378969	148378969	NC_000005.9:g.148378969G>T	ClinGen:CA10623458	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5304G>A	79628	SH3TC2	Uncertain significance	rs886060171	RCV000260055\|RCV000354879;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378970	148378970	NC_000005.9:g.148378970C>T	ClinGen:CA10620691	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*5277G>T	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs529868327	RCV001153917\|RCV001153918;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148378997	148378997	5:g.148378997C>A	-
NM_024577.4(SH3TC2):c.*5264G>A	79628	SH3TC2	Uncertain significance	rs548009546	RCV001154766\|RCV001154767;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148379010	148379010	5:g.148379010C>T	-
NM_024577.4(SH3TC2):c.*5020C>T	79628	SH3TC2	Likely benign	rs371723580	RCV000284824\|RCV000321125;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379254	148379254	5:g.148379254G>A	ClinGen:CA10619553	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4975T>C	79628	SH3TC2	Uncertain significance	rs1753565926	RCV001154768\|RCV001154769;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148379299	148379299	5:g.148379299A>G	-
NM_024577.4(SH3TC2):c.*4947G>A	79628	SH3TC2	Uncertain significance	rs1012023269	RCV001154770\|RCV001154771;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379327	148379327	5:g.148379327C>T	-
NM_024577.4(SH3TC2):c.*4935A>T	79628	SH3TC2	Uncertain significance	rs149921013	RCV000286103\|RCV000380490;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148379339	148379339	5:g.148379339T>A	ClinGen:CA10623469	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4920T>G	79628	SH3TC2	Uncertain significance	rs550230926	RCV000345759\|RCV000403997;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379354	148379354	5:g.148379354A>C	ClinGen:CA10620697	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4719C>G	79628	SH3TC2	Benign	rs6885467	RCV000289835\|RCV000347068;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379555	148379555	5:g.148379555G>C	ClinGen:CA10623471	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4713G>A	79628	SH3TC2	Likely benign	rs191742061	RCV000314416\|RCV000396658;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148379561	148379561	5:g.148379561C>T	ClinGen:CA10619557	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4691C>T	79628	SH3TC2	Uncertain significance	rs574710725	RCV000352756\|RCV000396646;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379583	148379583	5:g.148379583G>A	ClinGen:CA10620698	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4638A>T	79628	SH3TC2	Benign	rs117883175	RCV001152740\|RCV001152739;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148379636	148379636	5:g.148379636T>A	-
NM_024577.4(SH3TC2):c.*4604G>A	79628	SH3TC2	Uncertain significance	rs886060172	RCV000298960\|RCV000356062;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379670	148379670	5:g.148379670C>T	ClinGen:CA10623476	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4603C>T	79628	SH3TC2	Benign	rs144955630	RCV001152741\|RCV001152742;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379671	148379671	5:g.148379671G>A	-
NM_024577.4(SH3TC2):c.*4576G>T	79628	SH3TC2	Uncertain significance	rs996951340	RCV001154019\|RCV001154020;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148379698	148379698	5:g.148379698C>A	-
NM_024577.4(SH3TC2):c.*4555A>G	79628	SH3TC2	Benign	rs117287440	RCV000263700\|RCV000302534;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379719	148379719	5:g.148379719T>C	ClinGen:CA10619558	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4511T>C	79628	SH3TC2	Uncertain significance	rs578024597	RCV000266963\|RCV000359367;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379763	148379763	5:g.148379763A>G	ClinGen:CA10623299	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4446G>C	79628	SH3TC2	Likely benign	rs186152591	RCV000324367\|RCV000381268;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379828	148379828	5:g.148379828C>G	ClinGen:CA10623477	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4409T>A	79628	SH3TC2	Uncertain significance	rs886060173	RCV000270657\|RCV000328108;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148379865	148379865	5:g.148379865A>T	ClinGen:CA10620699	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4298C>T	79628	SH3TC2	Benign/Likely benign	rs145849837	RCV000292954\|RCV000384852;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379976	148379976	5:g.148379976G>A	ClinGen:CA10623478	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4279C>G	79628	SH3TC2	Likely benign	rs74578025	RCV000349738\|RCV000387909;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148379995	148379995	5:g.148379995G>C	ClinGen:CA10620700	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4240C>A	79628	SH3TC2	Uncertain significance	rs765837919	RCV000296021\|RCV000334668;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380034	148380034	NC_000005.9:g.148380034G>T	ClinGen:CA10620703	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4232G>A	79628	SH3TC2	Uncertain significance	rs886060174	RCV000299288\|RCV000403158;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380042	148380042	NC_000005.9:g.148380042C>T	ClinGen:CA10619560	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4209A>G	79628	SH3TC2	Uncertain significance	rs886060175	RCV000337837\|RCV000395281;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380065	148380065	NC_000005.9:g.148380065T>C	ClinGen:CA10619561	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4182A>G	79628	SH3TC2	Uncertain significance	rs886060177	RCV000268035\|RCV000306776;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380092	148380092	NC_000005.9:g.148380092T>C	ClinGen:CA10623301	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4131T>C	79628	SH3TC2	Uncertain significance	rs141113906	RCV000271328\|RCV000363565;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380143	148380143	NC_000005.9:g.148380143A>G	ClinGen:CA10623485	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*4052T>C	79628	SH3TC2	Likely benign	rs147125913	RCV001152854\|RCV001152855;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380222	148380222	5:g.148380222A>G	-
NM_024577.4(SH3TC2):c.*3993G>C	79628	SH3TC2	Uncertain significance	rs138512171	RCV001152857\|RCV001152856;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380281	148380281	5:g.148380281C>G	-
NM_024577.4(SH3TC2):c.*3946C>A	79628	SH3TC2	Uncertain significance	rs1753583783	RCV001152858\|RCV001152859;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380328	148380328	5:g.148380328G>T	-
NM_024577.4(SH3TC2):c.*3903A>G	79628	SH3TC2	Uncertain significance	rs750071171	RCV000328782\|RCV000385691;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380371	148380371	NC_000005.9:g.148380371T>C	ClinGen:CA10619563	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3860G>A	79628	SH3TC2	Benign	rs1432797	RCV000276394\|RCV000333785;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380414	148380414	NC_000005.9:g.148380414C>T	ClinGen:CA10619567	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3707C>T	79628	SH3TC2	Uncertain significance	rs548127285	RCV001154129\|RCV001154130;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380567	148380567	5:g.148380567G>A	-
NM_024577.4(SH3TC2):c.*3694T>A	79628	SH3TC2	Benign	rs115774169	RCV000279827\|RCV000372041;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380580	148380580	NC_000005.9:g.148380580A>T	ClinGen:CA10620704	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3589G>T	79628	SH3TC2	Uncertain significance	rs1044470297	RCV001154131\|RCV001154132;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380685	148380685	5:g.148380685C>A	-
NM_024577.4(SH3TC2):c.*3497G>A	79628	SH3TC2	Uncertain significance	rs1753591981	RCV001154967\|RCV001154966;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380777	148380777	5:g.148380777C>T	-
NM_024577.4(SH3TC2):c.*3464C>T	79628	SH3TC2	Uncertain significance	rs753332922	RCV001154969\|RCV001154968;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380810	148380810	5:g.148380810G>A	-
NM_024577.4(SH3TC2):c.*3438T>C	79628	SH3TC2	Uncertain significance	rs367587126	RCV001154971\|RCV001154970;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380836	148380836	5:g.148380836A>G	-
NM_024577.4(SH3TC2):c.*3430T>A	79628	SH3TC2	Uncertain significance	rs184043381	RCV000337412\|RCV000375695;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380844	148380844	NC_000005.9:g.148380844A>T	ClinGen:CA10623309	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3419C>T	79628	SH3TC2	Uncertain significance	rs753848228	RCV001156635\|RCV001156636;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148380855	148380855	5:g.148380855G>A	-
NM_024577.4(SH3TC2):c.*3313G>A	79628	SH3TC2	Uncertain significance	rs1753595247	RCV001156637\|RCV001156638;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148380961	148380961	5:g.148380961C>T	-
NM_024577.4(SH3TC2):c.*3246A>C	79628	SH3TC2	Benign	rs73795732	RCV001156639\|RCV001156640;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381028	148381028	5:g.148381028T>G	-
NM_024577.4(SH3TC2):c.*3202T>C	79628	SH3TC2	Uncertain significance	rs188625202	RCV000287185\|RCV000405958;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381072	148381072	NC_000005.9:g.148381072A>G	ClinGen:CA10623312	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3196T>C	79628	SH3TC2	Benign	rs3763022	RCV000344555\|RCV000394355\|RCV001613160;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148381078	148381078	NC_000005.9:g.148381078A>G	ClinGen:CA10623314	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3165G>A	79628	SH3TC2	Uncertain significance	rs886060179	RCV000308707\|RCV000365667;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381109	148381109	NC_000005.9:g.148381109C>T	ClinGen:CA10619568	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3136G>A	79628	SH3TC2	Benign	rs1019927	RCV000312130\|RCV000394389\|RCV001675859;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148381138	148381138	NC_000005.9:g.148381138C>T	ClinGen:CA10623487	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3079G>A	79628	SH3TC2	Benign/Likely benign	rs185297430	RCV000277924\|RCV000370213;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381195	148381195	NC_000005.9:g.148381195C>T	ClinGen:CA10623315	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3077C>T	79628	SH3TC2	Benign	rs1045942	RCV000316743\|RCV000355158\|RCV001618633;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148381197	148381197	NC_000005.9:g.148381197G>A	ClinGen:CA10623488	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3061A>G	79628	SH3TC2	Likely benign	rs138823547	RCV000262461\|RCV000319998\|RCV002291623;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148381213	148381213	NC_000005.9:g.148381213T>C	ClinGen:CA10623492	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3058A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs563916447	RCV000284969\|RCV000376990;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381216	148381216	NC_000005.9:g.148381216T>C	ClinGen:CA10620711	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*3035C>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs183531576	RCV001155085\|RCV001155084;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381239	148381239	5:g.148381239G>T	-
NM_024577.4(SH3TC2):c.*3034A>C	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs547028114	RCV001155087\|RCV001155086;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381240	148381240	5:g.148381240T>G	-
NM_024577.4(SH3TC2):c.*2987C>T	79628	SH3TC2	Likely benign	rs565331463	RCV000323252\|RCV000380177;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381287	148381287	NC_000005.9:g.148381287G>A	ClinGen:CA10619572	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2982T>C	79628	SH3TC2	Uncertain significance	rs886060180	RCV000288034\|RCV000345352;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381292	148381292	NC_000005.9:g.148381292A>G	ClinGen:CA10620714	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2956C>T	79628	SH3TC2	Benign	rs3763020	RCV000291737\|RCV000403858\|RCV001613161;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148381318	148381318	NC_000005.9:g.148381318G>A	ClinGen:CA10620715	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2923A>G	79628	SH3TC2	Uncertain significance	rs1033163196	RCV001156734\|RCV001156733;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381351	148381351	5:g.148381351T>C	-
NM_024577.4(SH3TC2):c.*2921G>A	79628	SH3TC2	Uncertain significance	rs1293808777	RCV001156735\|RCV001156736;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381353	148381353	5:g.148381353C>T	-
NM_024577.4(SH3TC2):c.*2900G>T	79628	SH3TC2	Benign/Likely benign	rs3763019	RCV000349074\|RCV000404692\|RCV001785590;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148381374	148381374	NC_000005.9:g.148381374C>A	ClinGen:CA10620718	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2862G>A	79628	SH3TC2	Benign	rs116548620	RCV000314717\|RCV000353247;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381412	148381412	NC_000005.9:g.148381412C>T	ClinGen:CA10623493	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2729T>C	79628	SH3TC2	Uncertain significance	rs555581492	RCV001151293\|RCV001151294;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381545	148381545	5:g.148381545A>G	-
NM_024577.4(SH3TC2):c.*2716T>C	79628	SH3TC2	Uncertain significance	rs577940138	RCV001151295\|RCV001151296;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381558	148381558	5:g.148381558A>G	-
NM_024577.4(SH3TC2):c.*2624A>G	79628	SH3TC2	Uncertain significance	rs762855152	RCV000299360\|RCV000397428;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381650	148381650	NC_000005.9:g.148381650T>C	ClinGen:CA10619574	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2500C>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs559833500	RCV000264033\|RCV000356510;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381774	148381774	NC_000005.9:g.148381774G>T	ClinGen:CA10619575	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2428C>T	79628	SH3TC2	Benign/Likely benign	rs149384180	RCV000321407\|RCV000359841\|RCV001785591;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148381846	148381846	NC_000005.9:g.148381846G>A	ClinGen:CA10623498	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2397G>A	79628	SH3TC2	Benign/Likely benign	rs17722155	RCV000267966\|RCV000325332\|RCV001785592;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148381877	148381877	NC_000005.9:g.148381877C>T	ClinGen:CA10623506	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2394C>T	79628	SH3TC2	Uncertain significance	rs368101139	RCV000271553\|RCV000382386;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148381880	148381880	NC_000005.9:g.148381880G>A	ClinGen:CA10623316	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2361A>T	79628	SH3TC2	Uncertain significance	rs146327509	RCV000328711\|RCV000385603;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381913	148381913	NC_000005.9:g.148381913T>A	ClinGen:CA10623507	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2341A>G	79628	SH3TC2	Likely benign	rs531168193	RCV000293827\|RCV000351012;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148381933	148381933	NC_000005.9:g.148381933T>C	ClinGen:CA10620720	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2269G>T	79628	SH3TC2	Likely benign	rs575693285	RCV001155188\|RCV001155189;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148382005	148382005	5:g.148382005C>A	-
NM_024577.4(SH3TC2):c.*2248A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs187399485	RCV000278732\|RCV000389471;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382026	148382026	NC_000005.9:g.148382026T>C	ClinGen:CA10623508	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2237G>A	79628	SH3TC2	Benign/Likely benign	rs76481943	RCV001156837\|RCV001156838\|RCV001788421;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148382037	148382037	5:g.148382037C>T	-
NM_024577.4(SH3TC2):c.*2118G>A	79628	SH3TC2	Uncertain significance	rs115163989	RCV001156839\|RCV001156840;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148382156	148382156	5:g.148382156C>T	-
NM_024577.4(SH3TC2):c.*2081T>G	79628	SH3TC2	Likely benign	rs543206033	RCV000301144\|RCV000339685;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148382193	148382193	5:g.148382193A>C	ClinGen:CA10619576	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*2065C>T	79628	SH3TC2	Uncertain significance	rs190638676	RCV001151425\|RCV001151424;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382209	148382209	5:g.148382209G>A	-
NM_024577.4(SH3TC2):c.*2004A>G	79628	SH3TC2	Uncertain significance	rs111746123	RCV001151426\|RCV001151427;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148382270	148382270	5:g.148382270T>C	-
NM_024577.4(SH3TC2):c.*1982C>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs535127091	RCV000304767\|RCV000395410;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382292	148382292	5:g.148382292G>T	ClinGen:CA10623511	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1979C>T	79628	SH3TC2	Uncertain significance	rs886060181	RCV000267698\|RCV000361849;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382295	148382295	5:g.148382295G>A	ClinGen:CA10623319	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1935T>C	79628	SH3TC2	Benign	rs6883926	RCV000260450\|RCV000373757\|RCV001683401;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148382339	148382339	5:g.148382339A>G	ClinGen:CA10623322	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1917C>T	79628	SH3TC2	Uncertain significance	rs561485632	RCV001154444\|RCV001154445;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148382357	148382357	5:g.148382357G>A	-
NM_024577.4(SH3TC2):c.*1909G>T	79628	SH3TC2	Benign	rs998304	RCV000334198\|RCV000388648\|RCV001662314;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148382365	148382365	5:g.148382365C>A	ClinGen:CA10620721	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1787G>C	79628	SH3TC2	Uncertain significance	rs139566698	RCV001154446\|RCV001154447;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148382487	148382487	5:g.148382487C>G	-
NM_024577.4(SH3TC2):c.*1765G>C	79628	SH3TC2	Likely benign	rs144178710	RCV001155282\|RCV001155283;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382509	148382509	5:g.148382509C>G	-
NM_024577.4(SH3TC2):c.*1750C>T	79628	SH3TC2	Benign/Likely benign	rs146276637	RCV000294383\|RCV000349376;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382524	148382524	5:g.148382524G>A	ClinGen:CA10620729	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1720T>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs148473467	RCV001155285\|RCV001155284;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382554	148382554	5:g.148382554A>T	-
NM_024577.4(SH3TC2):c.*1639T>C	79628	SH3TC2	Benign	rs1007400	RCV000290876\|RCV000385001\|RCV001653689;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148382635	148382635	5:g.148382635A>G	ClinGen:CA10620730	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1616C>T	79628	SH3TC2	Uncertain significance	rs758753462	RCV001156951\|RCV001156950;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382658	148382658	5:g.148382658G>A	-
NM_024577.4(SH3TC2):c.*1545A>G	79628	SH3TC2	Uncertain significance	rs898075581	RCV001156952\|RCV001156953;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382729	148382729	5:g.148382729T>C	-
NM_024577.4(SH3TC2):c.*1421A>C	79628	SH3TC2	Uncertain significance	rs1753627085	RCV001156954\|RCV001156955;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382853	148382853	5:g.148382853T>G	-
NM_024577.4(SH3TC2):c.*1310G>A	79628	SH3TC2	Uncertain significance	rs886060184	RCV000345827\|RCV000405100;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382964	148382964	5:g.148382964C>T	ClinGen:CA10619579	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1309C>T	79628	SH3TC2	Benign	rs1007401	RCV000305725\|RCV000341973;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148382965	148382965	5:g.148382965G>A	ClinGen:CA10620731	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1254T>C	79628	SH3TC2	Uncertain significance	rs752672326	RCV000302232\|RCV000394539;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383020	148383020	5:g.148383020A>G	ClinGen:CA10620735	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*1246G>A	79628	SH3TC2	Benign	rs142628780	RCV001151528\|RCV001151529;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383028	148383028	5:g.148383028C>T	-
NM_024577.4(SH3TC2):c.*1079T>C	79628	SH3TC2	Uncertain significance	rs1753632252	RCV001151530\|RCV001151531;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383195	148383195	5:g.148383195A>G	-
NM_024577.4(SH3TC2):c.*1006C>T	79628	SH3TC2	Uncertain significance	rs886060185	RCV000262350\|RCV000357179;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383268	148383268	NC_000005.9:g.148383268G>A	ClinGen:CA10620737	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*929G>C	79628	SH3TC2	Benign	rs1432798	RCV000277147\|RCV000332128;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383345	148383345	NC_000005.9:g.148383345C>G	ClinGen:CA3498587	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*921C>T	79628	SH3TC2	Uncertain significance	rs1051987911	RCV001154546\|RCV001154547;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383353	148383353	5:g.148383353G>A	-
NM_024577.4(SH3TC2):c.*882G>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs775429372	RCV000273536\|RCV000368125\|RCV000857132;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148383392	148383392	NC_000005.9:g.148383392C>T	ClinGen:CA3498589	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*837G>A	79628	SH3TC2	Likely benign	rs565462353	RCV000282110\|RCV000337140;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383437	148383437	NC_000005.9:g.148383437C>T	ClinGen:CA3498594	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*797A>G	79628	SH3TC2	Likely benign	rs140821223	RCV001155380\|RCV001155381;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383477	148383477	5:g.148383477T>C	-
NM_024577.4(SH3TC2):c.*719G>A	79628	SH3TC2	Benign	rs10050933	RCV000297329\|RCV000405911;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383555	148383555	NC_000005.9:g.148383555C>T	ClinGen:CA10623332	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*711A>C	79628	SH3TC2	Likely benign	rs567593663	RCV000369777\|RCV000396583;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383563	148383563	NC_000005.9:g.148383563T>G	ClinGen:CA10619584	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*651C>A	79628	SH3TC2	Uncertain significance	rs1454230507	RCV001157068\|RCV001157067;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383623	148383623	5:g.148383623G>T	-
NM_024577.4(SH3TC2):c.*626G>A	79628	SH3TC2	Uncertain significance	rs781581124	RCV000311616\|RCV000366270;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148383648	148383648	NC_000005.9:g.148383648C>T	ClinGen:CA10620744	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*623T>C	79628	SH3TC2	Uncertain significance	rs886060190	RCV000271738\|RCV000326821;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383651	148383651	NC_000005.9:g.148383651A>G	ClinGen:CA10620745	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*578C>T	79628	SH3TC2	Uncertain significance	rs567100275	RCV000267757\|RCV000362899;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383696	148383696	NC_000005.9:g.148383696G>A	ClinGen:CA10619585	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*574A>C	79628	SH3TC2	Uncertain significance	rs74964033	RCV001151617\|RCV001151618;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383700	148383700	5:g.148383700T>G	-
NM_024577.4(SH3TC2):c.*391G>C	79628	SH3TC2	Benign	rs117139060	RCV000322829\|RCV000377432;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383883	148383883	NC_000005.9:g.148383883C>G	ClinGen:CA10623524	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*341A>G	79628	SH3TC2	Uncertain significance	rs868833114	RCV000282873\|RCV000319266;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383933	148383933	NC_000005.9:g.148383933T>C	ClinGen:CA10623528	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*281A>G	79628	SH3TC2	Uncertain significance	rs886060191	RCV000279215\|RCV000373821;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148383993	148383993	NC_000005.9:g.148383993T>C	ClinGen:CA10619586	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*210C>A	79628	SH3TC2	Uncertain significance	rs886060192	RCV000334389\|RCV000393094;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148384064	148384064	NC_000005.9:g.148384064G>T	ClinGen:CA10620747	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*122G>T	79628	SH3TC2	Benign	rs114151926	RCV000310618\|RCV000402944;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148384152	148384152	NC_000005.9:g.148384152C>A	ClinGen:CA10620754	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*99G>A	79628	SH3TC2	Uncertain significance	rs886060193	RCV000365534\|RCV000396955;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148384175	148384175	NC_000005.9:g.148384175C>T	ClinGen:CA10619587	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*86C>T	79628	SH3TC2	Uncertain significance	rs886060194	RCV000307284\|RCV000362008;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148384188	148384188	NC_000005.9:g.148384188G>A	ClinGen:CA10623533	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*47C>T	79628	SH3TC2	Benign/Likely benign	rs79738100	RCV000266923\|RCV000303329\|RCV001564238;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148384227	148384227	NC_000005.9:g.148384227G>A	ClinGen:CA3498597	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.*44G>A	79628	SH3TC2	Uncertain significance	rs200095406	RCV001155500\|RCV001155501;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148384230	148384230	5:g.148384230C>T	-
NM_024577.4(SH3TC2):c.*39A>C	79628	SH3TC2	Benign	rs76579569	RCV001155502\|RCV001155503\|RCV001725212;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148384235	148384235	5:g.148384235T>G	-
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=)	79628	SH3TC2	Benign/Likely benign	rs117804174	RCV000263450\|RCV000475188\|RCV000833332\|RCV001172842\|RCV001095066\|RCV002356483;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342	5	148384307	148384307	NC_000005.9:g.148384307C>T	ClinGen:CA3498616	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs140985600	RCV000205903\|RCV000373351\|RCV000429860\|RCV001095104\|RCV001173203\|RCV001711358\|RCV002354576;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148384328	148384328	5:g.148384328G>A	ClinGen:CA350004	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=)	79628	SH3TC2	Uncertain significance	rs1434453673	RCV001333185;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148384337	148384337	148384337	-
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs144873879	RCV000333938\|RCV000710218\|RCV000419130\|RCV000555131\|RCV001095105\|RCV001172841\|RCV002356484;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:	5	148384346	148384346	NC_000005.9:g.148384346C>G	ClinGen:CA3498626	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3733_3734del (p.Leu1244_Gly1245insTer)	79628	SH3TC2	Uncertain significance	-1	RCV003108249;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148384407	148384408	NC_000005.9:g.148384408_148384409del	-
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs146920285	RCV000237055\|RCV000713265\|RCV000789576\|RCV000987610\|RCV001082893\|RCV001157181\|RCV002453563;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613	5	148384455	148384455	5:g.148384455T>A	ClinGen:CA334024	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3676-8G>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs772823083	RCV000489941\|RCV000789578\|RCV000824889\|RCV001851311;	N	MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148384473	148384473	5:g.148384473C>T	ClinGen:CA3498648	CN517202 not provided;
NM_024577.4(SH3TC2):c.3676-13A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs1753660598	RCV001157182\|RCV001157183\|RCV002557340;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148384478	148384478	5:g.148384478T>C	-
NM_024577.4(SH3TC2):c.3675+2dup	79628	SH3TC2	Pathogenic	rs1554120215	RCV000656458;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148386441	148386442	NC_000005.9:g.148386442dup	-	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs758669363	RCV001174026\|RCV001526838\|RCV001873630;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148386469	148386469	5:g.148386469C>T	-
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)	79628	SH3TC2	Pathogenic	rs80338937	RCV000020898;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148386518	148386518	5:g.148386518G>A	ClinGen:CA342388	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs886060195	RCV000292382\|RCV000386690\|RCV002450926;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342,MedGen:C0950123	5	148386519	148386519	NC_000005.9:g.148386519C>T	ClinGen:CA10623340	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=)	79628	SH3TC2	Benign	rs6871030	RCV000118337\|RCV000288645\|RCV000343599\|RCV001094973\|RCV001173896\|RCV001705867;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148386525	148386525	5:g.148386525T>G	ClinGen:CA155192	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=)	79628	SH3TC2	Benign/Likely benign	rs6871030	RCV000128035\|RCV000197015\|RCV000383172\|RCV001094972\|RCV001173895\|RCV002336280;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148386525	148386525	NC_000005.9:g.148386525T>C	ClinGen:CA293476	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs142451273	RCV000144878\|RCV000403900\|RCV000465654\|RCV000488069\|RCV001094974\|RCV002453463;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342	5	148386569	148386569	NC_000005.9:g.148386569T>C	ClinGen:CA270944	C0007959 Charcot-Marie-Tooth disease;
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)	79628	SH3TC2	Uncertain significance	rs200728983	RCV001225215\|RCV002451529\|RCV002290645\|RCV002497767;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148386607	148386607	5:g.148386607C>T	-
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs759785462	RCV000517446\|RCV000754746\|RCV000790335\|RCV000805465\|RCV001814180;	N	MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|Human Phenotype Ontology:HP:0003157,Human Phenotype Ontology	5	148386608	148386608	5:g.148386608G>A	ClinGen:CA3498696	CN517202 not provided;
NM_024577.4(SH3TC2):c.3472dup (p.Val1158fs)	79628	SH3TC2	Likely pathogenic	-1	RCV002271982;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148388419	148388420	148388419	-
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)	79628	SH3TC2	Benign	rs55853803	RCV000204002\|RCV000253518\|RCV001152962\|RCV001152963\|RCV001173903\|RCV001711986;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148388420	148388420	NC_000005.9:g.148388420C>T	ClinGen:CA348277	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)	79628	SH3TC2	Uncertain significance	rs141715248	RCV000340541\|RCV000403282\|RCV001343959\|RCV002450927;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MeSH:D030342,MedGen:C0950123	5	148388459	148388459	NC_000005.9:g.148388459C>A	ClinGen:CA3498747	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)	79628	SH3TC2	Uncertain significance	rs150805608	RCV000463777\|RCV001152965\|RCV001152964\|RCV001174022\|RCV002329039;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342,MedGen:C0950123	5	148388479	148388479	NC_000005.9:g.148388479C>T	ClinGen:CA3498751	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs139192433	RCV000214292\|RCV000355518\|RCV000473910\|RCV001173826\|RCV001095006\|RCV001352888\|RCV001549281\|RCV002450641;	N	MedGen:CN517202\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|Human Phenot	5	148388512	148388512	NC_000005.9:g.148388512C>T	ClinGen:CA3498756	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)	79628	SH3TC2	Benign/Likely benign	rs115577291	RCV000554390\|RCV001155604\|RCV001155603\|RCV001173195\|RCV001697251;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517202	5	148388530	148388530	NC_000005.9:g.148388530G>A	ClinGen:CA3498758	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)	79628	SH3TC2	Pathogenic	rs80338936	RCV000020897;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148388551	148388551	5:g.148388551_148388551del	ClinGen:CA342387	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	79628	SH3TC2	Pathogenic	rs80338934	RCV000002588\|RCV000218266\|RCV000654100\|RCV000857137\|RCV002496231;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:999	5	148389835	148389835	5:g.148389835G>A	ClinGen:CA339991,OMIM:608206.0006	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs375970910	RCV000200778\|RCV000297413\|RCV000516186\|RCV001095068\|RCV001172844\|RCV001705153\|RCV002453723;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148389845	148389845	NC_000005.9:g.148389845C>T	ClinGen:CA339546	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)	79628	SH3TC2	Pathogenic	rs864622664	RCV000205253\|RCV000484617\|RCV000789570\|RCV002494535;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148389857	148389857	NC_000005.9:g.148389858del	ClinGen:CA349432	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs755006924	RCV000276203\|RCV000370684\|RCV002323557;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342,MedGen:C0950123	5	148389857	148389857	NC_000005.9:g.148389857C>T	ClinGen:CA3498785	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=)	79628	SH3TC2	Benign/Likely benign	rs193067884	RCV000385876\|RCV000539504\|RCV000438125\|RCV001095069\|RCV001172837\|RCV002450928;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148389866	148389866	NC_000005.9:g.148389866G>A	ClinGen:CA3498790	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs)	79628	SH3TC2	Likely pathogenic	rs1580889913	RCV001027708;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148389869	148389869	5:g.148389869_148389869del	-
NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=)	79628	SH3TC2	Uncertain significance	rs1753764451	RCV001332527;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148389947	148389947	148389947	-
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)	79628	SH3TC2	Pathogenic	rs370115218	RCV000204837\|RCV000578944\|RCV001172827\|RCV002500652;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148392197	148392197	NC_000005.9:g.148392197G>A	ClinGen:CA349022	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)	79628	SH3TC2	Uncertain significance	rs541197556	RCV000547987\|RCV001157279\|RCV001157280;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148406154	148406154	5:g.148406154G>A	ClinGen:CA3498872	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs140307699	RCV000233589\|RCV001173825\|RCV001332526\|RCV001697618\|RCV002436039;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	148406198	148406198	5:g.148406198C>T	ClinGen:CA3498881	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs575937427	RCV000236841\|RCV000477370\|RCV000767114\|RCV000765819\|RCV001173155\|RCV002436061;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:	5	148406234	148406234	NC_000005.9:g.148406234T>C	ClinGen:CA3498889	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=)	79628	SH3TC2	Benign/Likely benign	rs13436308	RCV000288964\|RCV000537843\|RCV001095108\|RCV001173213\|RCV001706579\|RCV002436214;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517202\|MeSH:D030342	5	148406275	148406275	NC_000005.9:g.148406275G>A	ClinGen:CA3498896	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2872+9G>A	79628	SH3TC2	Benign	rs76488338	RCV000379797\|RCV000458430\|RCV001095109\|RCV001706580;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202	5	148406414	148406414	NC_000005.9:g.148406414C>T	ClinGen:CA3498917	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs80338933	RCV000002586\|RCV000002587\|RCV000144877\|RCV000168436\|RCV000255213\|RCV000282937\|RCV000515338\|RCV000622836\|RCV001851586;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MedGen:CN239	5	148406435	148406435	5:g.148406435G>A	ClinGen:CA115573,OMIM:608206.0005	C0007959 Charcot-Marie-Tooth disease;
NM_024577.4(SH3TC2):c.2838_2850dup (p.Leu951fs)	79628	SH3TC2	Likely pathogenic	-1	RCV003108244;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406444	148406445	NC_000005.9:g.148406449_148406461dup	-
NM_024577.4(SH3TC2):c.2849G>T (p.Gly950Val)	79628	SH3TC2	Uncertain significance	rs1754074456	RCV001251516;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406446	148406446	5:g.148406446C>A	-
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)	79628	SH3TC2	Pathogenic	rs80338932	RCV000002585\|RCV001223054\|RCV001310527;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202	5	148406466	148406466	5:g.148406466A>C	ClinGen:CA339988,OMIM:608206.0004	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)	79628	SH3TC2	Uncertain significance	rs144688852	RCV000654132\|RCV000657143\|RCV001157281\|RCV001157282\|RCV001173821\|RCV002438249\|RCV002490890;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148406483	148406483	5:g.148406483G>A	ClinGen:CA3498930	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	79628	SH3TC2	Pathogenic	rs80338931	RCV000020894\|RCV000205920\|RCV002292457;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202	5	148406585	148406585	5:g.148406585G>A	ClinGen:CA339763	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys)	79628	SH3TC2	Benign/Likely benign	rs73795753	RCV000168308\|RCV001084125\|RCV001151829\|RCV001151830\|RCV001173885;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148406604	148406604	NC_000005.9:g.148406604G>C	ClinGen:CA334582	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)	79628	SH3TC2	Uncertain significance	rs779223727	RCV000206149\|RCV000406192\|RCV000992971\|RCV001094977;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406624	148406624	5:g.148406624C>T	ClinGen:CA350215	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2657G>A (p.Ser886Asn)	79628	SH3TC2	Uncertain significance	rs780085307	RCV000300589\|RCV000334333;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148406638	148406638	5:g.148406638C>T	ClinGen:CA3498952	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs80338930	RCV000441336\|RCV000456313\|RCV000789561\|RCV001353153;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406653	148406653	5:g.148406653T>C	ClinGen:CA3498953	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2640del (p.Asn881fs)	79628	SH3TC2	Likely pathogenic	rs1561764569	RCV000754730;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406655	148406655	NC_000005.9:g.148406656del	-
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)	79628	SH3TC2	Pathogenic	-1	RCV001526837;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406696	148406696	148406696	-
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter)	79628	SH3TC2	Likely pathogenic	-1	RCV002272790;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406718	148406718	148406718	-
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs1463859150	RCV000546073\|RCV000765820\|RCV001173153;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148406767	148406767	NC_000005.9:g.148406767C>A	ClinGen:CA361666180	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)	79628	SH3TC2	not provided	rs80338929	RCV000020892;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406803	148406804	5:g.148406803_148406804del	ClinGen:CA342379	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)	79628	SH3TC2	Uncertain significance	rs375034766	RCV000529185\|RCV001174025\|RCV001507653\|RCV002431714\|RCV002476196;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C315	5	148406803	148406803	NC_000005.9:g.148406803C>T	ClinGen:CA3498985	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)	79628	SH3TC2	Likely pathogenic	rs1580900150	RCV000824888;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406864	148406864	5:g.148406864G>A	-
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)	79628	SH3TC2	Uncertain significance	rs764616291	RCV000313312\|RCV000404334\|RCV001094978;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148406897	148406897	5:g.148406897G>A	ClinGen:CA3499007	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)	79628	SH3TC2	Uncertain significance	rs377372640	RCV000468643\|RCV001507656\|RCV002489036;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148406947	148406947	NC_000005.9:g.148406947G>A	ClinGen:CA3499018	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=)	79628	SH3TC2	Benign	rs17795193	RCV000229675\|RCV000370361\|RCV000420321\|RCV001095010\|RCV001173904\|RCV001257243;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148406973	148406973	NC_000005.9:g.148406973G>A	ClinGen:CA3499023	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)	79628	SH3TC2	Uncertain significance	rs764436192	RCV000803864\|RCV001153074\|RCV001153075;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148406990	148406990	5:g.148406990C>T	-
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs140829706	RCV000205943\|RCV001153076\|RCV001153077\|RCV001172839\|RCV001675671\|RCV002444829;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517202\|MeSH:D030342	5	148406991	148406991	NC_000005.9:g.148406991G>A	ClinGen:CA350032	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=)	79628	SH3TC2	Benign	rs78120278	RCV000366493\|RCV000466816\|RCV001095011\|RCV001173906\|RCV001706581;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517202	5	148407060	148407060	5:g.148407060A>C	ClinGen:CA3499042	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)	79628	SH3TC2	Pathogenic	rs1580900473	RCV000987611;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148407106	148407106	5:g.148407106_148407106del	-
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)	79628	SH3TC2	Benign/Likely benign	rs117860293	RCV000862516\|RCV001155694\|RCV001155695;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148407198	148407198	5:g.148407198C>T	-
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs886060196	RCV000269573\|RCV000327176\|RCV002418211;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MeSH:D030342,MedGen:C0950123	5	148407201	148407201	5:g.148407201G>A	ClinGen:CA10619602	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)	79628	SH3TC2	Pathogenic	rs878855092	RCV000227528\|RCV001535630;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148407205	148407223	NC_000005.9:g.148407208_148407226del	ClinGen:CA10582409
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)	79628	SH3TC2	Benign/Likely benign	rs17109261	RCV000174165\|RCV000205788\|RCV001079213\|RCV001155696\|RCV001155697\|RCV001173900\|RCV002492732;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:	5	148407208	148407208	5:g.148407208T>C	ClinGen:CA200859,UniProtKB:Q8TF17#VAR_052623	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs201985394	RCV000654184\|RCV001155698\|RCV001155699\|RCV002422422\|RCV003126893;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	5	148407278	148407278	NC_000005.9:g.148407278C>T	ClinGen:CA3499076	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs80338926	RCV000020888\|RCV000236498\|RCV000654080\|RCV001173151\|RCV001270096\|RCV002415424\|RCV002490399;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MeSH:D030342	5	148407323	148407323	5:g.148407323G>A	ClinGen:CA342372,UniProtKB:Q8TF17#VAR_018270	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs80338925	RCV000020887\|RCV000206757\|RCV000857147\|RCV002496432;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0	5	148407326	148407326	5:g.148407326C>T	ClinGen:CA339774,UniProtKB:Q8TF17#VAR_018269,OMIM:608206.0007	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs537049075	RCV000268641\|RCV000360932\|RCV001095110\|RCV001030761\|RCV001706582;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015358,MedGen:C0027888\|MedGen:CN517202	5	148407353	148407353	5:g.148407353G>A	ClinGen:CA3499088	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)	79628	SH3TC2	Uncertain significance	rs199991156	RCV001157382\|RCV001157381\|RCV002032455\|RCV001664711;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202	5	148407373	148407373	5:g.148407373C>A	-
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs1064797314	RCV000488187\|RCV000857148\|RCV001353156;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148407398	148407398	5:g.148407398_148407398del	ClinGen:CA16621827	CN517202 not provided;
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)	79628	SH3TC2	Uncertain significance	rs749260578	RCV000321324\|RCV000377834\|RCV001850860\|RCV002411246;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MeSH:D030342,MedGen:C0950123	5	148407406	148407406	5:g.148407406G>A	ClinGen:CA3499099	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs143032801	RCV000236423\|RCV000724178\|RCV001085590\|RCV001157384\|RCV001157383\|RCV001173837\|RCV002408756;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:	5	148407433	148407433	5:g.148407433C>T	ClinGen:CA239663	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=)	79628	SH3TC2	Benign/Likely benign	rs138411915	RCV000229845\|RCV000281026\|RCV000310333\|RCV001094980\|RCV001173199\|RCV002411062;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148407453	148407453	5:g.148407453G>A	ClinGen:CA3499108	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1831C>A (p.His611Asn)	79628	SH3TC2	Uncertain significance	rs886060197	RCV000280200\|RCV000372108;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148407464	148407464	5:g.148407464G>T	ClinGen:CA10623355	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs370025626	RCV000351509\|RCV000392955\|RCV001482691\|RCV002411247;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MeSH:D030342,MedGen:C0950123	5	148407465	148407465	5:g.148407465C>T	ClinGen:CA3499112	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs186864272	RCV000293064\|RCV000349658\|RCV001173887\|RCV001094981;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148407481	148407481	5:g.148407481C>T	ClinGen:CA3499117	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs200332172	RCV001153177\|RCV001153178\|RCV001417182;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148407498	148407498	5:g.148407498C>T	-
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs139898175	RCV000762175\|RCV001081855\|RCV001153179\|RCV001153180\|RCV001172847\|RCV002411399;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148407528	148407528	5:g.148407528G>A	ClinGen:CA3499130	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)	79628	SH3TC2	Pathogenic	rs80338924	RCV000002583;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148407547	148407548	5:g.148407547_148407548del	ClinGen:CA339986,OMIM:608206.0002	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs201256776	RCV000310013\|RCV000525499\|RCV000490113\|RCV001095013\|RCV001173167\|RCV002402071;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148407574	148407574	5:g.148407574T>C	ClinGen:CA3499137	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)	79628	SH3TC2	Likely pathogenic	rs1580900970	RCV001007463;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148407583	148407583	5:g.148407583A>G	-
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)	79628	SH3TC2	Benign	rs1432794	RCV000118336\|RCV000362334\|RCV000405810\|RCV001095074\|RCV001173897\|RCV001705866;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148407708	148407708	5:g.148407708A>C	ClinGen:CA155189	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs863224454	RCV000196497\|RCV002288810\|RCV002399744;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342,MedGen:C0950123	5	148407708	148407709	NC_000005.9:g.148407708_148407709delinsCT	ClinGen:CA336470	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)	79628	SH3TC2	Likely pathogenic	rs863224781	RCV000195994\|RCV002503786;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148407708	148407710	NC_000005.9:g.148407708_148407710delinsCCA	ClinGen:CA336099	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs80338923	RCV000002582\|RCV000998463\|RCV000857152;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148407709	148407709	5:g.148407709C>T	ClinGen:CA339983,OMIM:608206.0001	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs78346510	RCV001155782\|RCV001155781\|RCV002070916\|RCV002393371;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MeSH:D030342,MedGen:C0950123	5	148407788	148407788	5:g.148407788C>T	-
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs887057321	RCV000557796\|RCV001155783\|RCV001155784\|RCV002395481\|RCV002473060;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	5	148407864	148407864	NC_000005.9:g.148407864C>T	ClinGen:CA128988408	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs6874630	RCV000659031\|RCV001089278\|RCV001155785\|RCV001155786\|RCV001172836;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148407892	148407892	5:g.148407892G>A	-	CN517202 not provided;
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser)	79628	SH3TC2	Benign	rs6875902	RCV000118335\|RCV000303953\|RCV000361049\|RCV001095113\|RCV001173901\|RCV001705865;	N	MedGen:CN169374\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148407893	148407893	5:g.148407893C>A	ClinGen:CA155186,UniProtKB:Q8TF17#VAR_018267	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs1580901350	RCV000789719\|RCV001048825\|RCV001171314\|RCV002501035;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0	5	148407917	148407917	5:g.148407917G>A	-
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=)	79628	SH3TC2	Benign	rs17722227	RCV000128034\|RCV000321819\|RCV000474488\|RCV001095114\|RCV001173898;	N	MedGen:CN169374\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148407945	148407945	NC_000005.9:g.148407945C>T	ClinGen:CA293473	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs200967041	RCV000558978\|RCV000723677\|RCV000789696\|RCV001157495\|RCV001157494\|RCV001706410\|RCV002379107;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN169	5	148407997	148407997	5:g.148407997G>A	ClinGen:CA3499208	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)	79628	SH3TC2	Pathogenic	-1	RCV003129574;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148408028	148408028	NC_000005.9:g.148408028C>A	-
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs748870159	RCV000225941\|RCV000355598\|RCV000859073\|RCV001393032\|RCV002392718;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MeSH:D030342,MedGen:C0950123	5	148408050	148408050	5:g.148408050C>T	ClinGen:CA3499219	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=)	79628	SH3TC2	Benign	rs1432793	RCV000118334\|RCV000294956\|RCV000333654\|RCV001094983\|RCV001173899\|RCV001705864;	N	MedGen:CN169374\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517	5	148408101	148408101	5:g.148408101A>G	ClinGen:CA155183	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1178-1G>A	79628	SH3TC2	Pathogenic	rs80338922	RCV000020886\|RCV000789563;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148408118	148408118	5:g.148408118C>T	ClinGen:CA342371	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.1177+10G>A	79628	SH3TC2	Benign/Likely benign	rs139257109	RCV000417441\|RCV000458597\|RCV001173205\|RCV001152022\|RCV001152023;	N	MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148408230	148408230	5:g.148408230C>T	ClinGen:CA3499263	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs569974719	RCV000290373\|RCV000385782\|RCV001094984;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148411147	148411147	5:g.148411147G>A	ClinGen:CA3499292	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.1002-7G>A	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs752528409	RCV000530936\|RCV001152025\|RCV001152024\|RCV001591302;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202	5	148411257	148411257	NC_000005.9:g.148411257C>T	ClinGen:CA3499311	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)	79628	SH3TC2	Pathogenic	rs1580907885	RCV000987612;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148417885	148417885	5:g.148417885_148417885del	-
NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys)	79628	SH3TC2	Uncertain significance	rs1754316511	RCV001153287\|RCV001153288;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148417888	148417888	5:g.148417888C>T	-
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)	79628	SH3TC2	Uncertain significance	rs753423455	RCV000347696\|RCV000407903\|RCV001095014;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148417903	148417903	5:g.148417903C>A	ClinGen:CA3499339	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.929dup (p.Ser312fs)	79628	SH3TC2	Pathogenic	-1	RCV002251156;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148417929	148417930	148417929	-
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)	79628	SH3TC2	Uncertain significance	rs1754317705	RCV001332530\|RCV001859295;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148417949	148417949	148417949	-
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs757969875	RCV000654173\|RCV000857157\|RCV001092867\|RCV001153289\|RCV001153290\|RCV002424545;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN517202\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342	5	148418029	148418029	5:g.148418029G>A	ClinGen:CA3499369	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs)	79628	SH3TC2	Pathogenic	rs879253859	RCV000235051;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148418038	148418039	NC_000005.9:g.148418038_148418039insA	ClinGen:CA10584081	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.805+2T>C	79628	SH3TC2	Pathogenic/Likely pathogenic	rs139052887	RCV001092868\|RCV001216729\|RCV002290598;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148420165	148420165	5:g.148420165A>G	-
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs149873249	RCV000520448\|RCV000654163\|RCV001332529\|RCV002420317;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342,MedGen:C0950123	5	148420178	148420178	5:g.148420178G>A	ClinGen:CA3499391	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs144963732	RCV000416281\|RCV000654078\|RCV001153291\|RCV001153292\|RCV001173823\|RCV002392943;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148420221	148420221	NC_000005.9:g.148420221G>A	ClinGen:CA3499401	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.731+2T>G	79628	SH3TC2	Pathogenic	-1	RCV002250351;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148420977	148420977	148420977	-
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs148634904	RCV000205496\|RCV000235753\|RCV000289039\|RCV000726668\|RCV001095079\|RCV001173160\|RCV002372193;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:	5	148421021	148421021	NC_000005.9:g.148421021A>G	ClinGen:CA349654	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs202052720	RCV000864216\|RCV001155885\|RCV001155886\|RCV001173888;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148421050	148421050	5:g.148421050C>G	-
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs80227512	RCV000118339\|RCV000203974\|RCV000212999\|RCV000301828\|RCV001095080\|RCV001173902\|RCV002362747;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:	5	148421065	148421065	5:g.148421065G>A	ClinGen:CA289042	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)	79628	SH3TC2	Uncertain significance	rs745613768	RCV000793057\|RCV001173820\|RCV002487651;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148421151	148421151	5:g.148421151C>T	-
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=)	79628	SH3TC2	Benign/Likely benign	rs141289653	RCV000340410\|RCV000553926\|RCV001173889\|RCV001095081\|RCV001705518\|RCV002348105;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202\|MeSH:D030342	5	148421152	148421152	NC_000005.9:g.148421152G>A	ClinGen:CA3499463	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs147013935	RCV000353171\|RCV001095117\|RCV001173200\|RCV001000996\|RCV000654284\|RCV001584070\|RCV002348106;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517	5	148421161	148421161	5:g.148421161G>A	ClinGen:CA3499466	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.530-2A>G	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs80338920	RCV000002584\|RCV000790209;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148421182	148421182	5:g.148421182T>C	ClinGen:CA339987,OMIM:608206.0003	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.529+7G>A	79628	SH3TC2	Uncertain significance	rs747615694	RCV000260618\|RCV000313253;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148422250	148422250	NC_000005.9:g.148422250C>T	ClinGen:CA3499486	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs147633804	RCV000457307\|RCV000765821\|RCV000992973\|RCV001174034\|RCV002339147;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353; MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MeSH:D030342	5	148422269	148422269	5:g.148422269G>T	ClinGen:CA3499489	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu)	79628	SH3TC2	Benign	rs17722293	RCV000118338\|RCV000273537\|RCV000370298\|RCV001095118\|RCV001173905;	N	MedGen:CN169374\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148422274	148422274	5:g.148422274C>T	ClinGen:CA155195,UniProtKB:Q8TF17#VAR_052622	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs80359890	RCV000002591\|RCV000002590\|RCV000415264\|RCV000656975\|RCV001172848\|RCV001079620\|RCV001293355\|RCV001705579\|RCV002345223;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|7 conditions\|MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148422281	148422281	5:g.148422281A>G	ClinGen:CA115576,UniProtKB:Q8TF17#VAR_064421,OMIM:608206.0008	C0003886 Arthrogryposis multiplex congenita;
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=)	79628	SH3TC2	Benign/Likely benign	rs77574155	RCV000205059\|RCV000419611\|RCV001157593\|RCV001173908\|RCV001152122\|RCV001812207;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517	5	148422309	148422309	NC_000005.9:g.148422309A>T	ClinGen:CA349226	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs776623792	RCV000330936\|RCV000383987\|RCV002520333\|RCV002374597;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MeSH:D030342,MedGen:C0950123	5	148422396	148422396	NC_000005.9:g.148422396G>A	ClinGen:CA3499514	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.385+3A>G	79628	SH3TC2	Uncertain significance	rs184593694	RCV000688379\|RCV001173165\|RCV002493163;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353; MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148424093	148424093	NC_000005.9:g.148424093T>C	-	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)	79628	SH3TC2	Pathogenic	rs1754425628	RCV001332528;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148424098	148424098	148424098	-
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu)	79628	SH3TC2	Pathogenic	-1	RCV001542577;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148424194	148424194	148424194	-
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs574669908	RCV000273192\|RCV000325802\|RCV000421299\|RCV001094986\|RCV001815318\|RCV002436215;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN169374\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	148424196	148424196	NC_000005.9:g.148424196G>A	ClinGen:CA3499547	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.280-5C>T	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs201937366	RCV000286201\|RCV000559399\|RCV000605956\|RCV001173217\|RCV001094987\|RCV002436216;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MeSH:D030342	5	148424206	148424206	NC_000005.9:g.148424206G>A	ClinGen:CA3499549	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs886060199	RCV000343436\|RCV000377152\|RCV002429314;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MeSH:D030342,MedGen:C0950123	5	148427449	148427449	NC_000005.9:g.148427449G>A	ClinGen:CA10619608	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs)	79628	SH3TC2	Pathogenic	-1	RCV001449914;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148427465	148427471	148427464	-
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)	79628	SH3TC2	Benign/Likely benign	rs112507765	RCV000337187\|RCV000364225\|RCV000545264\|RCV000858065\|RCV001095015\|RCV001173204\|RCV002429229;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN169374\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN517202\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:	5	148427466	148427466	5:g.148427466C>T	ClinGen:CA3499590	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)	79628	SH3TC2	Uncertain significance	rs749772988	RCV000805702\|RCV002487726;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949; MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148427480	148427480	5:g.148427480C>T	-
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)	79628	SH3TC2	Benign/Likely benign	rs747938069	RCV000465061\|RCV001080194\|RCV001153401\|RCV001153402;	N	MedGen:CN517202\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148427516	148427516	NC_000005.9:g.148427516C>T	ClinGen:CA3499600	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs146162276	RCV000203817\|RCV000235858\|RCV000789697\|RCV001153404\|RCV001153403\|RCV001722118\|RCV002381703;	N	MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MedGen:CN169374\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MedGen:CN517	5	148431719	148431719	NC_000005.9:g.148431719T>G	ClinGen:CA348097	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)	79628	SH3TC2	Conflicting interpretations of pathogenicity	rs141649676	RCV000205289\|RCV000789695\|RCV001081115\|RCV001153405\|RCV001156005\|RCV002415868;	N	MedGen:CN517202\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MeSH:D030342	5	148431777	148431777	NC_000005.9:g.148431777T>C	ClinGen:CA349459	CN043578 Charcot-Marie-Tooth disease, type IV;
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)	79628	SH3TC2	Pathogenic	rs1580917130	RCV000790424;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148431798	148431798	5:g.148431798C>A	-
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)	79628	SH3TC2	Pathogenic	rs1580917136	RCV000857161\|RCV001353166;	N	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148431801	148431802	5:g.148431801_148431802insA	-
NM_024577.4(SH3TC2):c.28del (p.Glu10fs)	79628	SH3TC2	Uncertain significance	rs80338918	RCV000020895\|RCV000790263;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166	5	148442558	148442558	NC_000005.9:g.148442560del	ClinGen:CA342383	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)	79628	SH3TC2	Pathogenic/Likely pathogenic	rs864309709	RCV000203275\|RCV001045169;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0018995,MedGen:C4082197, Orphanet:64749	5	148442585	148442585	5:g.148442585T>C	ClinGen:CA339657	C1866636 601596 Charcot-Marie-Tooth disease, type 4C;
NM_024577.3(SH3TC2):c.-77C>T	79628	SH3TC2	Uncertain significance	rs1017906109	RCV001156006\|RCV001156007;	N	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353\|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949	5	148442662	148442662	5:g.148442662G>A	-
NM_024577.3(SH3TC2):c.-92C>T	79628	SH3TC2	Uncertain significance	rs886060200	RCV000336459\|RCV000405498;	N	MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596, Orphanet:99949\|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353	5	148442677	148442677	NC_000005.9:g.148442677G>A	ClinGen:CA10623550	CN043578 Charcot-Marie-Tooth disease, type IV;

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