ClinVar Miner

List of variants in gene NEB reported as pathogenic for Nemaline myopathy 2

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Total variants: 68
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HGVS dbSNP
NC_000002.11:g.(?_152502272)_(152504773_?)del
NC_000002.11:g.(?_152502624)_(152502768_?)del
NC_000002.11:g.(?_152502634)_(152502758_?)del
NEB, 2-BP DEL, AG, EX172
NEB, 2-BP DEL, GA, EX181 rs1559154278
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.2(NEB):c.10493del (p.Gly3498fs)
NM_001271208.2(NEB):c.10872+1G>T rs1336053002
NM_001271208.2(NEB):c.10899G>A (p.Trp3633Ter)
NM_001271208.2(NEB):c.11054dup (p.Asn3685fs)
NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.12160del (p.Trp4054fs)
NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001271208.2(NEB):c.1333del (p.His445fs)
NM_001271208.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
NM_001271208.2(NEB):c.13756C>T (p.Gln4586Ter) rs1560283028
NM_001271208.2(NEB):c.13773C>A (p.Tyr4591Ter)
NM_001271208.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001271208.2(NEB):c.1674+1G>A
NM_001271208.2(NEB):c.1676del (p.Asn559fs)
NM_001271208.2(NEB):c.17196_17200del (p.Ile5732fs)
NM_001271208.2(NEB):c.17415C>A (p.Tyr5805Ter)
NM_001271208.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001271208.2(NEB):c.17845-1G>A rs1371849916
NM_001271208.2(NEB):c.17986del (p.Thr5996fs)
NM_001271208.2(NEB):c.18124C>T (p.Gln6042Ter)
NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900
NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.19711_19714del (p.Ala6571fs)
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20503C>T (p.Arg6835Ter)
NM_001271208.2(NEB):c.2065dup (p.Tyr689fs)
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001271208.2(NEB):c.21052del (p.Asp7018fs)
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.2943+1G>A rs113091511
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001271208.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001271208.2(NEB):c.496_499del (p.Gln166fs)
NM_001271208.2(NEB):c.5364G>A (p.Trp1788Ter)
NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019
NM_001271208.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001271208.2(NEB):c.6108_6111AAAG[1] (p.Lys2038fs)
NM_001271208.2(NEB):c.6341_6342AC[3] (p.Ala2117fs)
NM_001271208.2(NEB):c.724del (p.Tyr242fs)
NM_001271208.2(NEB):c.7253G>A (p.Trp2418Ter)
NM_001271208.2(NEB):c.7431+1919_7536+374del
NM_001271208.2(NEB):c.78+1G>A rs778593702
NM_001271208.2(NEB):c.8425del (p.Arg2809fs)
NM_001271208.2(NEB):c.8458_8459del (p.Ser2820fs)
NM_001271208.2(NEB):c.9217_9218del (p.Arg3073fs)
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562

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