ClinVar Miner

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

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_149062971)_(149063174_?)del
NC_000006.12:g.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
NC_000011.10:g.(?_10193902)_(10193987_?)del
NC_000012.12:g.(?_32576352)_(32619876_?)del
NC_000019.10:g.(?_40403686)_(40403882_?)del
NM_001135242.1(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_014845.5(FIG4):c.1205delA (p.Asn402Thrfs) rs1554303800
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.2285_2286delCT (p.Ser762Trpfs)
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter)
NM_014845.5(FIG4):c.759delG (p.Phe254Serfs) rs764717219
NM_016156.5(MTMR2):c.1034delA (p.Asn345Metfs) rs863224516
NM_016156.5(MTMR2):c.1537_1538dupTA (p.Ser514Thrfs) rs1555057316
NM_016156.5(MTMR2):c.464_465delGT (p.Cys155Terfs) rs1358449243
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_018972.2(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.2(GDAP1):c.503_504delAG (p.Glu168Valfs) rs1221804567
NM_018972.2(GDAP1):c.579+1G>A rs864622501
NM_018972.2(GDAP1):c.579delA (p.Lys193Asnfs) rs1060500979
NM_018972.2(GDAP1):c.786delG (p.Phe263Leufs) rs1060500978
NM_018972.3(GDAP1):c.112C>T (p.Gln38Ter)
NM_018972.3(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.3(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.3(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.3(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.3(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_024577.3(SH3TC2):c.1520_1523delTTGT (p.Phe507Trpfs)
NM_024577.3(SH3TC2):c.1586_1587delGTinsAG (p.Arg529Gln) rs863224454
NM_024577.3(SH3TC2):c.1662delC (p.Ile555Serfs) rs863224520
NM_024577.3(SH3TC2):c.1868_1869delGG (p.Gly623Aspfs) rs1554121691
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665
NM_024577.3(SH3TC2):c.2072_2090delCCTCTGTCCAGCAACATGG (p.Ala691Valfs) rs878855092
NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663
NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter)
NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter)
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3303delG (p.Arg1101Serfs) rs864622664
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.3(SH3TC2):c.3425_3435delATGAGAAGGCT (p.Tyr1142Phefs) rs1222150652
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter)
NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter)
NM_030962.3(SBF2):c.20_21delAC (p.Tyr7Phefs)
NM_030962.3(SBF2):c.2536+1G>A rs1060500001
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)
NM_030962.3(SBF2):c.4443+1G>A
NM_030962.3:c.754_823del
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.1865_1866delCA (p.Thr622Argfs) rs1555223595
NM_139241.3(FGD4):c.991delC (p.Gln331Argfs)
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.1390C>T (p.Arg464Ter)
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.231C>G (p.Tyr77Ter)
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.3014_3015insT (p.Lys1006Glnfs) rs1301129751
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) rs104894708
NM_181882.2(PRX):c.353delA (p.Lys118Argfs)

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.