ClinVar Miner

List of variants in gene MORC2 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe) rs1268129848
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) rs1555938741
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=) rs754338828
NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3]) rs1555938722
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
NM_001303256.3(MORC2):c.1370-3C>T
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr) rs1569192031
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=) rs1345120667
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
NM_001303256.3(MORC2):c.1605-3C>T
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=) rs1214680334
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777
NM_001303256.3(MORC2):c.1859dup (p.Val621fs) rs1569190645
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile) rs371710965
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln) rs768807060
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) rs780648306
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) rs1555942389
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del) rs1247915167
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) rs369384586
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) rs150980372
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His) rs1388475410
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser) rs1555936530
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe) rs1569188333
NM_001303256.3(MORC2):c.2747+6T>C
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) rs1485425350
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala) rs771410096
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
NM_001303256.3(MORC2):c.3030+6C>G
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala) rs748216749
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
NM_001303256.3(MORC2):c.536G>A (p.Arg179His) rs541114863
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys) rs371713427
NM_001303256.3(MORC2):c.713G>A (p.Arg238His) rs367766290
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu) rs368260550
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg) rs1555939986
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe) rs987083509
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu) rs772766261
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu) rs199973357
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) rs558057376
NM_001303256.3(MORC2):c.988-10A>G rs370880177

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