ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NC_000007.13:g.(?_75933099)_(75933510_?)del
NC_000007.13:g.(?_75933119)_(75933490_?)del
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000014.9:g.101979787T>G
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000902.4(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_000902.4(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001130067.2(TRIM2):c.1919A>C (p.Asp640Ala) rs879253863
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) rs863224873
NM_002109.6(HARS1):c.397G>T (p.Val133Phe) rs1554107200
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_014874.3(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) rs762729182
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_138361.5(LRSAM1):c.1043+2T>G
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.847_1088+563del

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