List of variants reported as likely pathogenic for hereditary sensory and autonomic neuropathy type 2

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		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)	rs202152511	0.00004
NM_213655.5(WNK1):c.3633+1G>T	rs762015494	0.00003
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)	rs387907259	0.00001
NM_001365536.1(SCN9A):c.2517+1G>C	rs560913943	0.00001
NM_001365536.1(SCN9A):c.258+1G>A	rs755067851	0.00001
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)	rs1024152367	0.00001
NM_001365536.1(SCN9A):c.3928G>A (p.Val1310Ile)	rs121908913	0.00001
NM_001365536.1(SCN9A):c.4503+1G>T	rs746241591	0.00001
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)	rs1553473041	0.00001
NC_000002.11:g.(?_167119087)_(167129240_?)del
NC_000012.12:g.(?_827032)_(862280_?)dup
NM_001034850.3(RETREG1):c.775G>T (p.Glu259Ter)
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)	rs137852739
NM_001244008.2(KIF1A):c.1037+1G>C	rs2125976529
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)	rs2056551129
NM_001244008.2(KIF1A):c.1208-2A>C
NM_001244008.2(KIF1A):c.1421+2T>A	rs751051049
NM_001244008.2(KIF1A):c.1578-2A>G	rs2125925871
NM_001244008.2(KIF1A):c.2116+1G>C	rs1553633687
NM_001244008.2(KIF1A):c.2582+1G>A	rs2125874950
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)	rs1575654528
NM_001244008.2(KIF1A):c.3374+2T>G	rs2125791006
NM_001244008.2(KIF1A):c.3465+1G>A
NM_001244008.2(KIF1A):c.3750-2A>G
NM_001244008.2(KIF1A):c.40C>G (p.Pro14Ala)
NM_001244008.2(KIF1A):c.430-2A>G
NM_001244008.2(KIF1A):c.4319-1G>A
NM_001244008.2(KIF1A):c.4319-2A>G	rs1559477798
NM_001244008.2(KIF1A):c.4868+1G>C	rs1553624714
NM_001244008.2(KIF1A):c.609-1G>A	rs1559527796
NM_001244008.2(KIF1A):c.745C>A (p.Leu249Met)
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)	rs2054374864
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)	rs1559526692
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)	rs762126771
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)	rs879253888
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	rs879253888
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)	rs1553638086
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)	rs1553637932
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)	rs2056552812
NM_001244008.2(KIF1A):c.802G>T (p.Gly268Trp)
NM_001244008.2(KIF1A):c.805del (p.Ala269fs)
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
NM_001244008.2(KIF1A):c.864+1_864+24del
NM_001244008.2(KIF1A):c.958+1G>C	rs780380861
NM_001365536.1(SCN9A):c.1314+1G>A
NM_001365536.1(SCN9A):c.1314+1G>T	rs1295192882
NM_001365536.1(SCN9A):c.1602+1G>A	rs2106486889
NM_001365536.1(SCN9A):c.1602+1_1602+2insTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGGAC
NM_001365536.1(SCN9A):c.1952A>G (p.Asp651Gly)
NM_001365536.1(SCN9A):c.2002del (p.Arg668fs)
NM_001365536.1(SCN9A):c.2343+2T>C
NM_001365536.1(SCN9A):c.2344-2A>G	rs1697328487
NM_001365536.1(SCN9A):c.2518-1G>T	rs2106469561
NM_001365536.1(SCN9A):c.258+1G>T
NM_001365536.1(SCN9A):c.258+2T>C
NM_001365536.1(SCN9A):c.2875-1G>A
NM_001365536.1(SCN9A):c.3204del (p.Lys1068fs)	rs1574843584
NM_001365536.1(SCN9A):c.3351+2T>G
NM_001365536.1(SCN9A):c.3427G>C (p.Ala1143Pro)
NM_001365536.1(SCN9A):c.347GAA[1] (p.Arg117del)	rs1559030991
NM_001365536.1(SCN9A):c.3628-1G>A
NM_001365536.1(SCN9A):c.378-1C>T	rs1309621904
NM_001365536.1(SCN9A):c.3796_3801+23del	rs1471163637
NM_001365536.1(SCN9A):c.3924+1G>C	rs2106395478
NM_001365536.1(SCN9A):c.3925-2A>G	rs532631248
NM_001365536.1(SCN9A):c.4398+2T>C	rs2106383164
NM_001365536.1(SCN9A):c.4399-1C>T	rs1283839545
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn)	rs121908914
NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs)	rs1574706911
NM_001365536.1(SCN9A):c.4503+1G>A	rs746241591
NM_001365536.1(SCN9A):c.4621C>T (p.Gln1541Ter)
NM_001365536.1(SCN9A):c.468-1G>C
NM_001365536.1(SCN9A):c.468-1G>T
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter)	rs200070962
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala)	rs1060502047
NM_001365536.1(SCN9A):c.596+1G>T	rs201560701
NM_001365536.1(SCN9A):c.596+1del
NM_001365536.1(SCN9A):c.703_709delinsCAGGCCTGAAGA (p.Val235_Ala237delinsGlnAlaTer)
NM_001365536.1(SCN9A):c.706G>T (p.Gly236Trp)
NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter)	rs1553495048
NM_001365536.1(SCN9A):c.965+1G>T	rs1698219355
NM_018979.4(WNK1):c.1400+1G>A
NM_018979.4(WNK1):c.1905T>A (p.Asp635Glu)
NM_018979.4(WNK1):c.2140-2A>G
NM_018979.4(WNK1):c.2832+1G>C
NM_018979.4(WNK1):c.3845-2A>G
NM_018979.4(WNK1):c.4507_4514dup (p.Cys1506fs)
NM_018979.4(WNK1):c.5448+1G>T
NM_018979.4(WNK1):c.6448+2T>C	rs2154096075
NM_213655.5(WNK1):c.2140-1G>A
NM_213655.5(WNK1):c.2229dup (p.Thr744fs)	rs1307515994

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