ClinVar Miner

List of variants in gene MTMR2 reported as uncertain significance for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.5(MTMR2):c.*1150C>T rs886048766
NM_016156.5(MTMR2):c.*133C>G rs367677499
NM_016156.5(MTMR2):c.*1343_*1344del rs886048765
NM_016156.5(MTMR2):c.*1425A>G rs886048764
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*1822T>G rs562826516
NM_016156.5(MTMR2):c.*1826C>A rs145394232
NM_016156.5(MTMR2):c.*1888del rs775823662
NM_016156.5(MTMR2):c.*190G>A rs886048769
NM_016156.5(MTMR2):c.*2038C>G rs886048763
NM_016156.5(MTMR2):c.*207A>G rs185702937
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*2357T>C rs886048762
NM_016156.5(MTMR2):c.*347_*348delCT rs762396029
NM_016156.5(MTMR2):c.*660G>A rs886048768
NM_016156.5(MTMR2):c.*679A>C rs776788118
NM_016156.5(MTMR2):c.*837G>A rs532069328
NM_016156.5(MTMR2):c.*910T>A rs555290971
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.5(MTMR2):c.-82C>T rs886048773
NM_016156.5(MTMR2):c.1101G>C (p.Lys367Asn)
NM_016156.5(MTMR2):c.1118A>G (p.Asn373Ser)
NM_016156.5(MTMR2):c.1121T>C (p.Ile374Thr)
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly)
NM_016156.5(MTMR2):c.1328G>A (p.Arg443Gln)
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) rs769693714
NM_016156.5(MTMR2):c.1345G>A (p.Val449Met)
NM_016156.5(MTMR2):c.1363A>C (p.Ser455Arg)
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.1411C>T (p.His471Tyr)
NM_016156.5(MTMR2):c.1446A>G (p.Gln482=) rs376166939
NM_016156.5(MTMR2):c.1450A>G (p.Ile484Val) rs886048771
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) rs778430688
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087
NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.5(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.5(MTMR2):c.1594-9T>G
NM_016156.5(MTMR2):c.1630A>G (p.Ile544Val) rs781368440
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1770+4T>C rs1565342479
NM_016156.5(MTMR2):c.1770G>A (p.Gln590=) rs778532655
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.5(MTMR2):c.1851G>C (p.Glu617Asp)
NM_016156.5(MTMR2):c.1852A>C (p.Ile618Leu)
NM_016156.5(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.1878_1879AG[6] (p.Ala629fs) rs751292488
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985
NM_016156.5(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657
NM_016156.5(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.5(MTMR2):c.197A>G (p.Glu66Gly)
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met)
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A rs1565361115
NM_016156.5(MTMR2):c.301G>A (p.Val101Ile)
NM_016156.5(MTMR2):c.327T>G (p.Asn109Lys)
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr)
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.5(MTMR2):c.357+4A>C rs863224750
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe)
NM_016156.5(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.5(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.5(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.5(MTMR2):c.570+11T>C rs182582445
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys)
NM_016156.5(MTMR2):c.655-8A>G rs768562214
NM_016156.5(MTMR2):c.753_755TGA[1] (p.Asp252del) rs878855016
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys)
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.829A>C (p.Ser277Arg)
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr)

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