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Items: 70

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:148384328
GRCh38:
Chr5:149004765
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4,
Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Jan 24, 2017)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr5:148384346
GRCh38:
Chr5:149004783
SH3TC2not specified, Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr5:148384455
GRCh38:
Chr5:149004892
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedConflicting interpretations of pathogenicity
(Nov 24, 2016)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr5:148384473
GRCh38:
Chr5:149004910
SH3TC2not providedPathogenic
(Apr 13, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr5:148386525
GRCh38:
Chr5:149006962
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4,
Mononeuropathy of the Median Nerve
Benign/Likely benign
(Jan 25, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr5:148386569
GRCh38:
Chr5:149007006
SH3TC2Charcot-Marie-Tooth disease, type IV, Charcot-Marie-Tooth disease, not specified,
VARIANT OF UNKNOWN SIGNIFICANCE, Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Uncertain significance
(Dec 7, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr5:148386607
GRCh38:
Chr5:149007044
SH3TC2not providedPathogenic
(May 14, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr5:148388512
GRCh38:
Chr5:149008949
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4,
Mononeuropathy of the Median Nerve
Uncertain significance
(Jun 22, 2017)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr5:148388530
GRCh38:
Chr5:149008967
SH3TC2not specifiedUncertain significance
(Mar 30, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr5:148388532
GRCh38:
Chr5:149008969
SH3TC2not specifiedLikely benign
(Dec 8, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr5:148389835
GRCh38:
Chr5:149010272
SH3TC2Charcot-Marie-Tooth disease, type 4C, not providedPathogenic
(May 24, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr5:148389857
GRCh38:
Chr5:149010294
SH3TC2Charcot-Marie-Tooth disease, type IV, VARIANT OF UNKNOWN SIGNIFICANCEPathogenic
(Mar 22, 2017)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:148389866
GRCh38:
Chr5:149010303
SH3TC2not specified, Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Jul 28, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr5:148392185
GRCh38:
Chr5:149012622
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedUncertain significance
(Nov 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr5:148406234
GRCh38:
Chr5:149026671
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedUncertain significance
(Sep 21, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr5:148406248
GRCh38:
Chr5:149026685
SH3TC2not specifiedLikely benign
(Dec 18, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr5:148406319
GRCh38:
Chr5:149026756
SH3TC2not specifiedLikely benign
(Jun 29, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr5:148406427
GRCh38:
Chr5:149026864
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedBenign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr5:148406435
GRCh38:
Chr5:149026872
SH3TC2Charcot-Marie-Tooth disease, type 4C, Mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease, type IV,
Charcot-Marie-Tooth disease, VARIANT OF UNKNOWN SIGNIFICANCE, SH3TC2-Related Disorders
Pathogenic
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr5:148406604
GRCh38:
Chr5:149027041
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedLikely benign
(Sep 15, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr5:148406744
GRCh38:
Chr5:149027181
SH3TC2not specifiedUncertain significance
(May 30, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr5:148406789
GRCh38:
Chr5:149027226
SH3TC2not specifiedUncertain significance
(May 14, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr5:148406807
GRCh38:
Chr5:149027244
SH3TC2not providedPathogenic
(Apr 20, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr5:148406910
GRCh38:
Chr5:149027347
SH3TC2not specifiedLikely benign
(Aug 8, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr5:148406973
GRCh38:
Chr5:149027410
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4,
Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr5:148406989
GRCh38:
Chr5:149027426
SH3TC2not specifiedUncertain significance
(Apr 7, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr5:148407323
GRCh38:
Chr5:149027760
SH3TC2Charcot-Marie-Tooth disease, type 4C, not providedPathogenic/Likely pathogenic
(Apr 10, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr5:148407433
GRCh38:
Chr5:149027870
SH3TC2not specifiedUncertain significance
(Dec 29, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr5:148407453
GRCh38:
Chr5:149027890
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4,
Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Oct 4, 2016)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr5:148407495-148407498
GRCh38:
Chr5:149027932-149027935
SH3TC2not providedPathogenic
(Apr 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr5:148407528
GRCh38:
Chr5:149027965
SH3TC2not specifiedLikely benign
(Dec 12, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr5:148407531
GRCh38:
Chr5:149027968
SH3TC2not specifiedLikely benign
(Apr 7, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr5:148407574
GRCh38:
Chr5:149028011
SH3TC2not specified, Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Uncertain significance
(Apr 14, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:148407642
GRCh38:
Chr5:149028079
SH3TC2not specifiedLikely benign
(Jan 10, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr5:148407710
GRCh38:
Chr5:149028147
SH3TC2not providedLikely pathogenic
(Dec 30, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr5:148407822
GRCh38:
Chr5:149028259
SH3TC2not specifiedBenign
(Apr 26, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr5:148407852
GRCh38:
Chr5:149028289
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedBenign/Likely benign
(Nov 7, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr5:148407892-148407893
GRCh38:
Chr5:149028329-149028330
SH3TC2not specifiedUncertain significance
(Jan 12, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr5:148407911
GRCh38:
Chr5:149028348
SH3TC2not providedPathogenic
(Dec 4, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr5:148407945
GRCh38:
Chr5:149028382
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4,
Mononeuropathy of the Median Nerve
Benign/Likely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr5:148407966
GRCh38:
Chr5:149028403
SH3TC2not specifiedLikely benign
(May 18, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr5:148407996
GRCh38:
Chr5:149028433
SH3TC2not specifiedLikely benign
(Jan 3, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr5:148408041
GRCh38:
Chr5:149028478
SH3TC2not specifiedUncertain significance
(Jan 11, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr5:148408100
GRCh38:
Chr5:149028537
SH3TC2not specifiedUncertain significance
(May 30, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr5:148408230
GRCh38:
Chr5:149028667
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedBenign/Likely benign
(Mar 22, 2017)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:148411114
GRCh38:
Chr5:149031551
SH3TC2not providedLikely pathogenic
(Jun 16, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr5:148411235
GRCh38:
Chr5:149031672
SH3TC2not specifiedConflicting interpretations of pathogenicity
(Dec 29, 2015)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr5:148411255
GRCh38:
Chr5:149031692
SH3TC2not specifiedUncertain significance
(Aug 4, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr5:148417859
GRCh38:
Chr5:149038296
SH3TC2not specifiedUncertain significance
(May 24, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr5:148417923
GRCh38:
Chr5:149038360
SH3TC2not specifiedLikely benign
(Oct 3, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr5:148417955
GRCh38:
Chr5:149038392
SH3TC2not specifiedUncertain significance
(Jan 30, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr5:148417965
GRCh38:
Chr5:149038402
SH3TC2not specifiedBenign
(Aug 5, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr5:148418023
GRCh38:
Chr5:149038460
SH3TC2not specifiedUncertain significance
(May 17, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr5:148418028
GRCh38:
Chr5:149038465
SH3TC2not specifiedLikely benign
(Dec 23, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr5:148420221
GRCh38:
Chr5:149040658
SH3TC2not specified, not providedUncertain significance
(Jan 13, 2017)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:148420222-148420224
GRCh38:
Chr5:149040659-149040661
SH3TC2not providedLikely pathogenic
(Oct 17, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr5:148420974
GRCh38:
Chr5:149041411
SH3TC2not providedLikely pathogenic
(Apr 20, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr5:148421021
GRCh38:
Chr5:149041458
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, Charcot-Marie-Tooth, Type 4,
Mononeuropathy of the Median Nerve
Uncertain significance
(Nov 3, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr5:148421065
GRCh38:
Chr5:149041502
SH3TC2Charcot-Marie-Tooth disease, type IV, not specified, VARIANT OF UNKNOWN SIGNIFICANCE,
Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Dec 28, 2016)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr5:148421075
GRCh38:
Chr5:149041512
SH3TC2not specifiedUncertain significance
(Apr 21, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr5:148421152
GRCh38:
Chr5:149041589
SH3TC2not specified, Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Aug 5, 2016)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr5:148422274
GRCh38:
Chr5:149042711
SH3TC2not specified, Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:148422281
GRCh38:
Chr5:149042718
SH3TC2Charcot-Marie-Tooth disease, type 4C, Mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease, type IV,
not specified, Scoliosis, Hemihypertrophy,
Congenital contracture, Arthrogryposis multiplex congenita, Decreased muscle mass,
Short lower limbs, Upper limb undergrowth ...see more
Conflicting interpretations of pathogenicity
(Dec 24, 2016)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr5:148422309
GRCh38:
Chr5:149042746
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedBenign
(Dec 19, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr5:148424196
GRCh38:
Chr5:149044633
SH3TC2not specified, Charcot-Marie-Tooth, Type 4, Mononeuropathy of the Median Nerve
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr5:148431708
GRCh38:
Chr5:149052145
SH3TC2not specifiedUncertain significance
(Nov 15, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr5:148431719
GRCh38:
Chr5:149052156
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedBenign/Likely benign
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:148431777
GRCh38:
Chr5:149052214
SH3TC2Charcot-Marie-Tooth disease, type IV, not specifiedConflicting interpretations of pathogenicity
(Nov 8, 2016)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr5:148442529-148442530
GRCh38:
Chr5:149062966-149062967
SH3TC2not providedLikely pathogenic
(Nov 25, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr5:105955289-155551397
GRCh38:
Chr5:106619588-156124387
ADRB2, ANXA6, APC, ATOX1, ALDH7A1, CAMK4, CAMK2A, CAMLG, CD14, CD74, CDC25C, CDO1, CDX1, AP3S1, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, DMXL1, DIAPH1, DPYSL3, SLC26A2, HBEGF, EFNA5, EGR1, ETF1, FAT2, FBN2, FER, FGF1, GDF9, GFRA3, GLRA1, GM2A, GPX3, GRIA1, NR3C1, HARS, HINT1, HSD17B4, HSPA4, HSPA9, NDST1, HTR4, IK, IL3, IL4, IL5, IL9, IL13, IRF1, KCNN2, LECT2, LMNB1, LOX, SMAD5, MAN2A1, MCC, MFAP3, NDUFA2, NEUROG1, NPY6R, PCDH1, PCDHGC3, PDE6A, PDGFRB, PFDN1, PGGT1B, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PURA, RPS14, RPS20P3, RPS20P4, SGCD, SKP1, SLC6A7, SLC12A2, SLC22A4, SLC22A5, SNX2, SPARC, SPINK1, SPOCK1, SRP19, TAF7, TCF7, TCOF1, TGFBI, ZRSR1, UBE2B, UBE2D2, VDAC1, WNT8A, REEP5, NME5, PDLIM4, EIF4EBP3, PCDHGB4, CDC23, HDAC3, P4HA2, ATG12, NREP, CNOT8, HAND1, MYOT, NRG2, CXCL14, H2AFY, SMAD5-AS1, RNF14, SNCAIP, PCDHGA8, PCDHA9, MATR3, KIAA0141, JAKMIP2, PJA2, DDX46, SLC23A1, GNPDA1, SRA1, RAD50, KIF20A, G3BP1, APBB3, TNIP1, SEC24A, FAXDC2, FAM114A2, BRD8, TCERG1, HNRNPA0, SPINK5, KIF3A, SYNPO, ABLIM3, HMGXB3, ARHGAP26, FSTL4, SEPT8, ACSL6, JADE2, LARP1, HARS2, TNFAIP8, GEMIN5, PCDHGA12, LRRTM2, CCDC69, PCDHB5, FBXL21, KLHL3, SNORD63, SNORA74A, PKD2L2, UQCRQ, AFF4, IL17B, SLC27A6, SNX24, MRPL22, PCDHB1, TMED7, ISOC1, SAR1B, DCTN4, MZB1, PAIP2, CDKL3, PCDH12, FAM13B, FAM53C, REEP2, PRR16, COMMD10, LARS, CXXC5, RAPGEF6, KDM3B, PHAX, RBM27, EPB41L4A-AS2, ZCCHC10, WDR55, ANKHD1, TMCO6, TRIM36, GALNT10, RBM22, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHG@, PCDHB@, PCDHA@, PCDHACT, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, CDC42SE2, TRPC7, ZNF608, KCTD16, SEMA6A, PCDHB16, HMHB1, EPB41L4A, SIL1, ARAP3, FBXL17, YTHDC2, GRAMD2B, PCYOX1L, SH3TC2, SAP30L, TXNDC15, NDFIP1, FBXO38, YIPF5, TIGD6, SPRY4, SLC4A9, SLC25A2, TSSK1B, PCBD2, PSD2, CYSTM1, MEGF10, SPINK7, SMIM3, TSLP, FCHSD1, LYRM7, SLC25A46, CDKN2AIPNL, ZNF300, MYOZ3, PRDM6, FTMT, FNIP1, SLC35A4, EPB41L4A-AS1, MARCH3, LEAP2, SCGB3A2, PPARGC1B, PRRC1, ZNF474, AFAP1L1, GRPEL2, GPR151, STARD4, WDR36, SOWAHA, SHROOM1, C5orf24, DCANP1, MGC32805, SLC36A2, SPINK13, CEP120, SLC25A48, SRFBP1, JAKMIP2-AS1, ZMAT2, CCDC112, PRELID2, SH3RF2, PLAC8L1, DCP2, ADAMTS19, SPATA24, DNAJC18, STK32A, LVRN, SLC36A1, SH3TC2-DT, DTWD2, RELL2, LOC285638, SLC36A3, KIF4B, CHSY3, TMEM173, FAM170A, C5orf66-AS2, LINC01959, ARSI, IRGM, CATSPER3, TICAM2, DND1, SAP30L-AS1, TEX43, SMIM32, PROB1, C5orf46, ARHGEF37, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR143, MIR145, SPINK14, C5orf56, IGIP, MIR378A, TIFAB, MIR3936HG, CTXN3, ECSCR, TMEM232, GRXCR2, SPINK9, ARL14EPL, LINC01184, CCNI2, SNORA13, MIR584, SNHG4, CARMN, LINC00992, CCDC192, MEIKIN, VTRNA2-1, MIR874, KIAA1024L, LOC100128966, LOC100130172, LINC01848, MIR1289-2, MIR548F3, MIR1294, MIR1303, TMED7-TICAM2, MIR1244-2, MIR3141, MIR3655, MIR3936, MIR3661, MALINC1, LOC100505658, STARD4-AS1, LINC02148, LOC100505841, MIR4633, MIR4461, MIR378H, MIR4460, SPRY4-IT1, LOC100652758, LINC01023, MIR5197, MIR5692C1, MIR5706, P4HA2-AS1, NREP-AS1, ARHGAP26-AS1, PPP2R2B-IT1, ARHGAP26-IT1, C5orf66, LOC101926905, SPRY4-AS1, LINC01844, LOC101927023, LINC01957, LOC101927078, CLMAT3, LOC101927100, LINC01933, LINC01470, LOC101927190, SEMA6A-AS1, LINC02208, LOC101927357, LINC02201, LOC101927421, LINC02240, LOC101927488, TH2LCRR, LINC01843, C5orf66-AS1, PSD2-AS1, LOC101929719, MIR6499, MIR6830, MIR6831, LINC01950, LINC02200, LOC102467216, LOC102467217, LINC02214, LINC02147, LINC02215, LOC102467226, LINC02039, LOC102546229, LOC102546294, NDST1-AS1, LMNB1-DT, ADAMTS19-AS1, LINC01170, STK32A-AS1, MARCOL, LINC01861, SEMA6A-AS2, LINC02216, LOC105379143, LOC105379152, LOC105379176, LOC105379183, LOC105379192, LOC105379194, WSPAR, GRPEL2-AS1, TRPC7-AS2, LOC107986453
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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