ClinVar Miner

List of variants reported as likely pathogenic for acquired amyloid peripheral neuropathy by Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center

Included ClinVar conditions (2):
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Total variants: 52
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HGVS dbSNP
NC_000004.12:g.104314621_104314622insG
NM_000051.3(ATM):c.5005G>A (p.Glu1669Lys)
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del)
NM_001033910.3(TRAF5):c.1250_1251AG[2] (p.Glu419fs)
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn)
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr)
NM_001080541.2(MGA):c.3733G>C (p.Glu1245Gln)
NM_001126112.2(TP53):c.216dup (p.Val73fs) rs730882018
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys)
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys)
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys)
NM_002185.5(IL7R):c.205C>G (p.Leu69Val)
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr)
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter)
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn)
NM_003200.5(TCF3):c.1823-478G>A
NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly)
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys)
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln)
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His)
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter)
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys)
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr)
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys)
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter)
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met)
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys)
NM_005245.4(FAT1):c.720G>A (p.Met240Ile)
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro)
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser)
NM_005627.4(SGK1):c.1094A>G (p.Asn365Ser)
NM_006037.3(HDAC4):c.1565C>T (p.Pro522Leu)
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr)
NM_006494.4(ERF):c.228G>A (p.Met76Ile)
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe)
NM_015247.2(CYLD):c.2040dup (p.Asp681fs)
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln)
NM_016302.3(CRBN):c.1100A>T (p.Asn367Ile)
NM_017628.4(TET2):c.1438C>T (p.Pro480Ser)
NM_021946.4(BCORL1):c.2242C>T (p.Gln748Ter)
NM_033360.4(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro)
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu)
NM_175629.2(DNMT3A):c.7G>T (p.Ala3Ser)
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)
NM_198433.3(AURKA):c.1038C>A (p.Phe346Leu)

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