ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4 by GeneReviews

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_006096.3(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1745_1746AG[1] (p.Arg583fs) rs80338924
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2191del (p.Glu731fs) rs80338928
NM_024577.3(SH3TC2):c.2487_2488AG[2] (p.Leu832fs) rs80338929
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_033500.2(HK1):c.-390-3838G>C rs797044964
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1698G>H (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) rs104894708

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.