SACS — 4627 ClinVar variants

Pathogenic 295

• p.Ala4074Pro Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg1575Pro Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg1645Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg1907Ter Multiple submitters Spastic paraplegia
• p.Arg2119Ter Multiple submitters Spastic paraplegia
• p.Arg2425Pro Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg2502Ter Multiple submitters SACS-related disorder
• p.Arg3636Ter Multiple submitters Spastic paraplegia
• p.Arg3903Ter Multiple submitters Inborn genetic diseases
• p.Arg4036Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg88Ter Multiple submitters Spastic paraplegia
• p.Arg961Ter Multiple submitters Spastic paraplegia
• p.Asn1586fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Cys2042Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln1709Ter Multiple submitters Spastic paraplegia
• p.Gln3981Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln4208Ter Multiple submitters Spastic paraplegia
• p.Gln595Ter Multiple submitters Spastic paraplegia
• p.Gln886Ter Multiple submitters Spastic paraplegia
• p.Glu2280fs Multiple submitters Spastic paraplegia
• p.Gly453fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.His2743fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.His640fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Ile1714fs Multiple submitters Spastic paraplegia
• p.Ile2949fs Multiple submitters SACS-related disorder
• p.Ile3755fs Multiple submitters Spastic paraplegia
• p.Leu2113fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu2145Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu3102Ter Multiple submitters ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
• p.Leu4005Pro Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Lys1715Ter Multiple submitters Spastic paraplegia
• p.Lys2221fs Multiple submitters hereditary spastic paraplegia
• p.Lys2298_Glu2299insTer Multiple submitters Spastic paraplegia
• p.Lys2931fs Multiple submitters Spastic paraplegia
• p.Lys3605Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Lys3646fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Met1573Arg Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Phe2012_Leu2013insTer Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Phe4073fs Multiple submitters Spastic paraplegia
• p.Ser1718fs Multiple submitters Spastic paraplegia
• p.Ser3289Ter Multiple submitters Spastic paraplegia
• p.Ser397fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Ser80fs Multiple submitters hereditary spastic paraplegia
• p.Thr305fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Trp569Ter Multiple submitters Spastic paraplegia
• p.Tyr1921Asp Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Tyr1942fs Multiple submitters Spastic paraplegia
• p.Tyr4392Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Val590fs Multiple submitters Spastic paraplegia
• p.Ala1002_Phe1003insAlaGlyArgGlyGlySerArgLeuTer Single submitter Spastic paraplegia
• p.Ala1373Ter Single submitter Spastic paraplegia
• p.Ala1968fs Single submitter Spastic paraplegia
• p.Ala4348fs Single submitter Spastic paraplegia
• p.Arg1364fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg1457fs Single submitter Spastic paraplegia
• p.Arg1547fs Single submitter Spastic paraplegia
• p.Arg2002fs Single submitter Spastic paraplegia
• p.Arg2073fs Single submitter Spastic paraplegia
• p.Arg2383fs Single submitter Spastic paraplegia
• p.Arg2508fs Single submitter Spastic paraplegia
• p.Arg3024fs Single submitter Spastic paraplegia
• p.Arg3170fs Single submitter Spastic paraplegia
• p.Arg3546fs Single submitter Spastic paraplegia
• p.Arg3879fs Single submitter Spastic paraplegia
• p.Arg4386Ter Single submitter Spastic paraplegia
• p.Arg4448fs Single submitter Spastic paraplegia
• p.Arg515fs Single submitter Spastic paraplegia
• p.Asn2082fs Single submitter Spastic paraplegia
• p.Asn2376fs Single submitter Spastic paraplegia
• p.Asn2552fs Single submitter Spastic paraplegia
• p.Asn2606fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn3054fs Single submitter Spastic paraplegia
• p.Asn3078fs Single submitter Spastic paraplegia
• p.Asn3111fs Single submitter
• p.Asn3291fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn3750fs Single submitter Spastic paraplegia
• p.Asn4030fs Single submitter Spastic paraplegia
• p.Asp1057fs Single submitter
• p.Asp1568fs Single submitter Spastic paraplegia
• p.Asp1710fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2643fs Single submitter Spastic paraplegia
• p.Asp2733fs Single submitter Spastic paraplegia
• p.Asp2771fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp3341fs Single submitter Spastic paraplegia
• p.Asp4339Glu Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp511fs Single submitter Spastic paraplegia
• p.Cys2100Ter Single submitter Spastic paraplegia
• p.Cys2424Ter Single submitter Spastic paraplegia
• p.Cys2467fs Single submitter Spastic paraplegia
• p.Cys3139_Glu3145delinsTer Single submitter Spastic paraplegia
• p.Cys3329Ter Single submitter Spastic paraplegia
• p.Gln1011fs Single submitter Spastic paraplegia
• p.Gln1354Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln137fs Single submitter Spastic paraplegia
• p.Gln1529Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln1651Ter Single submitter Spastic paraplegia
• p.Gln173Ter Single submitter Spastic paraplegia
• p.Gln1852Ter Single submitter Spastic paraplegia
• p.Gln2150fs Single submitter Spastic paraplegia
• p.Gln2373Ter Single submitter Spastic paraplegia
• p.Gln2441fs Single submitter Spastic paraplegia
• p.Gln278Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln2945Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln2971Ter Single submitter Spastic paraplegia
• p.Gln3123Ter Single submitter Spastic paraplegia
• p.Gln3401Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln3597fs Single submitter Spastic paraplegia
• p.Gln3732Ter Single submitter Spastic paraplegia
• p.Gln3837fs Single submitter
• p.Gln4253Ter Single submitter Spastic paraplegia
• p.Gln4403fs Single submitter Spastic paraplegia
• p.Gln4426Ter Single submitter Spastic paraplegia
• p.Gln658Ter Single submitter Spastic paraplegia
• p.Gln860Ter Single submitter Spastic paraplegia
• p.Glu1032Ter Single submitter Spastic paraplegia
• p.Glu1100fs Single submitter
• p.Glu116_Leu117insTer Single submitter Spastic paraplegia
• p.Glu1507fs Single submitter Spastic paraplegia
• p.Glu1549Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1794fs Single submitter Spastic paraplegia
• p.Glu1828Ter Single submitter Spastic paraplegia
• p.Glu2419fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu2419Ter Single submitter Spastic paraplegia
• p.Glu2507fs Single submitter Spastic paraplegia
• p.Glu2548fs Single submitter autosomal recessive spastic ataxia
• p.Glu2751fs Single submitter Spastic paraplegia
• p.Glu3053fs Single submitter Spastic paraplegia
• p.Glu3515Ter Single submitter Spastic paraplegia
• p.Glu3619Ter Single submitter Spastic paraplegia
• p.Glu3720fs Single submitter Spastic paraplegia
• p.Glu3786fs Single submitter Spastic paraplegia
• p.Glu4180Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu4510fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu481Ter Single submitter Spastic paraplegia
• p.Glu519fs Single submitter Spastic paraplegia
• p.Glu550fs Single submitter Spastic paraplegia
• p.Glu585fs Single submitter Spastic paraplegia
• p.Glu810fs Single submitter Spastic paraplegia
• p.Glu984Ter Single submitter Spastic paraplegia
• p.Gly4282fs Single submitter Spastic paraplegia
• p.Gly642fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.His1768fs Single submitter Spastic paraplegia
• p.His1915fs Single submitter Spastic paraplegia
• p.His374fs Single submitter Spastic paraplegia
• p.His3836fs Single submitter Spastic paraplegia
• p.His4090Asn Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1420fs Single submitter Spastic paraplegia
• p.Ile1477fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1592fs Single submitter Spastic paraplegia
• p.Ile2639fs Single submitter Spastic paraplegia
• p.Ile2927fs Single submitter Spastic paraplegia
• p.Ile3498_Tyr3499insTer Single submitter Spastic paraplegia
• p.Ile3558fs Single submitter Spastic paraplegia
• p.Ile419fs Single submitter Spastic paraplegia
• p.Ile4328fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile761fs Single submitter Spastic paraplegia
• p.Ile818fs Single submitter Spastic paraplegia
• p.Leu100fs Single submitter Spastic paraplegia
• p.Leu1412fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1443fs Single submitter Spastic paraplegia
• p.Leu1541Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1646fs Single submitter Spastic paraplegia
• p.Leu1724fs Single submitter Spastic paraplegia
• p.Leu1922fs Single submitter Spastic paraplegia
• p.Leu2102fs Single submitter Spastic paraplegia
• p.Leu2257fs Single submitter Spastic paraplegia
• p.Leu2282Ter Single submitter Spastic paraplegia
• p.Leu2341fs Single submitter Spastic paraplegia
• p.Leu2460fs Single submitter Spastic paraplegia
• p.Leu2550fs Single submitter Spastic paraplegia
• p.Leu2730fs Single submitter Spastic paraplegia
• p.Leu2941Ter Single submitter Spastic paraplegia
• p.Leu3030fs Single submitter Spastic paraplegia
• p.Leu3083_Ile3084insTer Single submitter Spastic paraplegia
• p.Leu308Phe Single submitter Spastic paraplegia
• p.Leu3134_Leu3135insTer Single submitter Spastic paraplegia
• p.Leu3192fs Single submitter Spastic paraplegia
• p.Leu3482fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3645fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3745fs Single submitter Spastic paraplegia
• p.Leu3869Ter Single submitter Spastic paraplegia
• p.Leu4303Ter Single submitter Spastic paraplegia
• p.Leu4355fs Single submitter Spastic paraplegia
• p.Leu4362Ter Single submitter Spastic paraplegia
• p.Leu796fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys1465Ter Single submitter Spastic paraplegia
• p.Lys1755fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys2439fs Single submitter Spastic paraplegia
• p.Lys339Ter Single submitter Spastic paraplegia
• p.Lys3460fs Single submitter Spastic paraplegia
• p.Lys3565fs Single submitter Spastic paraplegia
• p.Lys3867fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys4020Ter Single submitter Spastic paraplegia
• p.Lys4296fs Single submitter Spastic paraplegia
• p.Lys4439fs Single submitter Spastic paraplegia
• p.Lys4495_Ser4496insTer Single submitter Spastic paraplegia
• p.Lys63Ter Single submitter Spastic paraplegia
• p.Lys647fs Single submitter Spastic paraplegia
• p.Lys865Ter Single submitter
• p.Met1186Arg Single submitter SACS-related disorder
• p.Met1514fs Single submitter Spastic paraplegia
• p.Met2459fs Single submitter
• p.Met980fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe1614fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe3682fs Single submitter Spastic paraplegia
• p.Phe679fs Single submitter Spastic paraplegia
• p.Pro1158fs Single submitter Spastic paraplegia
• p.Pro204fs Single submitter Spastic paraplegia
• p.Pro2369Leu Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro2472fs Single submitter Spastic paraplegia
• p.Pro2798fs Single submitter Spastic paraplegia
• p.Pro3095fs Single submitter Spastic paraplegia
• p.Pro3652fs Single submitter Spastic paraplegia
• p.Pro449fs Single submitter Spastic paraplegia
• p.Pro488fs Single submitter Spastic paraplegia
• p.Ser1021fs Single submitter Inborn genetic diseases
• p.Ser1368Ile Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ser1454Ter Single submitter Spastic paraplegia
• p.Ser1533Ter Single submitter
• p.Ser1689fs Single submitter Spastic paraplegia
• p.Ser1692Ter Single submitter Spastic paraplegia
• p.Ser1798fs Single submitter Spastic paraplegia
• p.Ser1987fs Single submitter Spastic paraplegia
• p.Ser2052Ter Single submitter Inborn genetic diseases
• p.Ser2058fs Single submitter Spastic paraplegia
• p.Ser208Ter Single submitter Spastic paraplegia
• p.Ser2267fs Single submitter Spastic paraplegia
• p.Ser2406_Ile2407insTer Single submitter Spastic paraplegia
• p.Ser2679fs Single submitter Spastic paraplegia
• p.Ser2711Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser2824Ter Single submitter Spastic paraplegia
• p.Ser3091fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser3256fs Single submitter Spastic paraplegia
• p.Ser335Ter Single submitter Spastic paraplegia
• p.Ser3360fs Single submitter Spastic paraplegia
• p.Ser3892fs Single submitter Spastic paraplegia
• p.Ser409fs Single submitter Spastic paraplegia
• p.Ser4440Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Thr1079fs Single submitter Spastic paraplegia
• p.Thr1933fs Single submitter Spastic paraplegia
• p.Thr2309fs Single submitter
• p.Thr2417fs Single submitter Spastic paraplegia
• p.Thr2816delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter Spastic paraplegia
• p.Thr3104fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Thr3373fs Single submitter Spastic paraplegia
• p.Thr458fs Single submitter Spastic paraplegia
• p.Thr589fs Single submitter Spastic paraplegia
• p.Trp1234Ter Single submitter Spastic paraplegia
• p.Trp1277Ter Single submitter Spastic paraplegia
• p.Trp169Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Trp1900Ter Single submitter Spastic paraplegia
• p.Trp2909Ter Single submitter Spastic paraplegia
• p.Trp3234Ter Single submitter Spastic paraplegia
• p.Trp3248Ter Single submitter Spastic paraplegia
• p.Trp3278Ter Single submitter Spastic paraplegia
• p.Trp3616Ter Single submitter Spastic paraplegia
• p.Trp4318Ter Single submitter Spastic paraplegia
• p.Trp4472fs Single submitter Spastic paraplegia
• p.Trp4472Ter Single submitter Spastic paraplegia
• p.Trp569fs Single submitter Spastic paraplegia
• p.Tyr107Ter Single submitter Spastic paraplegia
• p.Tyr1246Ter Single submitter Spastic paraplegia
• p.Tyr1367Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Tyr138Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Tyr151Ter Single submitter Spastic paraplegia
• p.Tyr159Ter Single submitter Spastic paraplegia
• p.Tyr2370Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Tyr2378Ter Single submitter Abnormal central motor function
• p.Tyr2654Ter Single submitter Spastic paraplegia
• p.Tyr2922Ter Single submitter Spastic paraplegia
• p.Tyr2933Ter Single submitter Spastic paraplegia
• p.Tyr3226Ter Single submitter Spastic paraplegia
• p.Tyr3367fs Single submitter Spastic paraplegia
• p.Tyr3490fs Single submitter Spastic paraplegia
• p.Tyr3817Ter Single submitter Spastic paraplegia
• p.Tyr3950fs Single submitter Spastic paraplegia
• p.Tyr4177fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Tyr867fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Val1115fs Single submitter Spastic paraplegia
• p.Val1278fs Single submitter Spastic paraplegia
• p.Val197fs Single submitter
• p.Val2590fs Single submitter Spastic paraplegia
• p.Val3010_Ile3011insTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Val3162fs Single submitter Spastic paraplegia
• p.Val3320fs Single submitter Spastic paraplegia
• p.Val3545fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Val4237fs Single submitter Spastic paraplegia
• p.Val541fs Single submitter Spastic paraplegia
• p.Asp687fs No assertion criteria Charlevoix-Saguenay spastic ataxia
• p.Cys395fs No assertion criteria Charlevoix-Saguenay spastic ataxia
• p.Gln1345fs No assertion criteria Charlevoix-Saguenay spastic ataxia
• p.Ile1195fs No assertion criteria Charlevoix-Saguenay spastic ataxia
• p.Phe1054Ser No assertion criteria Charlevoix-Saguenay spastic ataxia
• p.Phe927fs No assertion criteria Spastic paraplegia
• p.Trp3248Arg No assertion criteria Charlevoix-Saguenay spastic ataxia

Pathogenic/Likely pathogenic 158

• p.Ala1723fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Ala2180fs Multiple submitters Spastic paraplegia
• p.Ala2208fs Multiple submitters Spastic paraplegia
• p.Arg1877Ter Multiple submitters Spastic paraplegia
• p.Arg2425Ter Multiple submitters Spastic paraplegia
• p.Arg2426Ter Multiple submitters Spastic paraplegia
• p.Arg2703Cys Multiple submitters Spastic paraplegia
• p.Arg272Cys Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg272His Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg276Cys Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg2906Ter Multiple submitters Spastic paraplegia
• p.Arg2932fs Multiple submitters Spastic paraplegia
• p.Arg3170Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg321Ter Multiple submitters Spastic paraplegia
• p.Arg3224Ter Multiple submitters SACS-related disorder
• p.Arg3792fs Multiple submitters Spastic paraplegia
• p.Arg3792Ter Multiple submitters Spastic paraplegia
• p.Arg3972Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg401Ter Multiple submitters Spastic paraplegia
• p.Arg4078Ter Multiple submitters Spastic paraplegia
• p.Arg4325Ter Multiple submitters Spastic paraplegia
• p.Arg4378Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg4412fs Multiple submitters Spastic paraplegia
• p.Arg624fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg728Ter Multiple submitters SACS-related disorder
• p.Arg742Ter Multiple submitters Spastic paraplegia
• p.Arg919fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Asn1025fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Asn1094fs Multiple submitters Spastic paraplegia
• p.Asn2380fs Multiple submitters Spastic paraplegia
• p.Asn2615fs Multiple submitters Spastic paraplegia
• p.Asn3040fs Multiple submitters Spastic paraplegia
• p.Asp1425_Ile1426insAlaTer Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Asp1498fs Multiple submitters Spastic paraplegia
• p.Asp1582Asn Multiple submitters Spastic paraplegia
• p.Asp1903fs Multiple submitters Spastic paraplegia
• p.Asp2074fs Multiple submitters Spastic paraplegia
• p.Asp235fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Asp2796fs Multiple submitters Spastic paraplegia
• p.Asp3028Ter Multiple submitters hereditary spastic paraplegia
• p.Asp4256fs Multiple submitters Spastic paraplegia
• p.Cys2097fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Cys2635fs Multiple submitters Spastic paraplegia
• p.Cys3073_Asp3074delinsTer Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Cys3704fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln1044Ter Multiple submitters Spastic paraplegia
• p.Gln1143Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln1249Ter Multiple submitters Spastic paraplegia
• p.Gln1370Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln1652Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln1810Ter Multiple submitters Spastic paraplegia
• p.Gln2441Ter Multiple submitters Spastic paraplegia
• p.Gln2793Ter Multiple submitters Spastic paraplegia
• p.Gln3036Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln3516Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln3602Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln3634Ter Multiple submitters Spastic paraplegia
• p.Gln3671fs Multiple submitters Spastic paraplegia
• p.Gln3889Ter Multiple submitters Spastic paraplegia
• p.Gln4003Ter Multiple submitters Spastic paraplegia
• p.Gln4010Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln4054Ter Multiple submitters Spastic paraplegia
• p.Gln558Ter Multiple submitters Spastic paraplegia
• p.Gln574Ter Multiple submitters Spastic paraplegia
• p.Gln835Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Glu1162Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Glu128fs Multiple submitters Spastic paraplegia
• p.Glu1766Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Glu1814fs Multiple submitters Spastic paraplegia
• p.Glu2418Ter Multiple submitters Spastic paraplegia
• p.Glu322Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Glu3647Ter Multiple submitters Spastic paraplegia
• p.Glu380fs Multiple submitters Spastic paraplegia
• p.Glu3818Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Glu4284fs Multiple submitters Spastic paraplegia
• p.Glu4418fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gly1626fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gly188Arg Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gly2936fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gly4179fs Multiple submitters Spastic paraplegia
• p.His2105fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.His2362fs Multiple submitters Spastic paraplegia
• p.His2781fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.His2986fs Multiple submitters Spastic paraplegia
• p.Ile1110fs Multiple submitters SACS-related disorder
• p.Ile1867fs Multiple submitters Spastic paraplegia
• p.Ile2253fs Multiple submitters Spastic paraplegia
• p.Ile2747fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Ile565fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu1133fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu1411Ter Multiple submitters hereditary ataxia
• p.Leu1522fs Multiple submitters hereditary ataxia
• p.Leu156fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu2402fs Multiple submitters Spastic paraplegia
• p.Leu3135Ser Multiple submitters SACS-related disorder
• p.Leu3187_Phe3188insTer Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu3379Ter Multiple submitters Spastic paraplegia
• p.Leu410fs Multiple submitters Spastic paraplegia
• p.Leu410Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu4139fs Multiple submitters Spastic paraplegia
• p.Leu4279fs Multiple submitters Spastic paraplegia
• p.Leu986Ter Multiple submitters Spastic paraplegia
• p.Leu996Ter Multiple submitters Spastic paraplegia
• p.Lys1717fs Multiple submitters Spastic paraplegia
• p.Lys1802fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Lys2862Ter Multiple submitters Spastic paraplegia
• p.Lys3319fs Multiple submitters Spastic paraplegia
• p.Lys4297fs Multiple submitters Spastic paraplegia
• p.Lys4308fs Multiple submitters Inborn genetic diseases
• p.Lys4327fs Multiple submitters Spastic paraplegia
• p.Lys900fs Multiple submitters Spastic paraplegia
• p.Lys905Ter Multiple submitters Spastic paraplegia
• p.Phe1793fs Multiple submitters Spastic paraplegia
• p.Phe2596fs Multiple submitters Spastic paraplegia
• p.Phe2848fs Multiple submitters autosomal recessive spastic ataxia
• p.Phe3209fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Phe3562fs Multiple submitters Spastic paraplegia
• p.Phe3644_Leu3645insTer Multiple submitters SACS-related disorder
• p.Phe4280fs Multiple submitters Spastic paraplegia
• p.Pro1119fs Multiple submitters Inborn genetic diseases
• p.Pro2063fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Pro2217Gln Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Pro2717fs Multiple submitters Spastic paraplegia
• p.Pro3089fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Pro3713_Leu3714insTer Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Pro536Leu Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Ser145Ter Multiple submitters Spastic paraplegia
• p.Ser2755fs Multiple submitters Spastic paraplegia
• p.Ser2874fs Multiple submitters Spastic paraplegia
• p.Ser3220fs Multiple submitters Spastic paraplegia
• p.Ser3489fs Multiple submitters Spastic paraplegia
• p.Ser3608fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Ser3649_Leu3650insTer Multiple submitters Spastic paraplegia
• p.Ser4149Ter Multiple submitters Spastic paraplegia
• p.Ser4246fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Thr2289fs Multiple submitters Spastic paraplegia
• p.Thr2388fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Thr3050fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Thr615fs Multiple submitters SACS-related disorder
• p.Trp1279Ter Multiple submitters Spastic paraplegia
• p.Trp1365Ter Multiple submitters Spastic paraplegia
• p.Trp1433Ter Multiple submitters Spastic paraplegia
• p.Trp144fs Multiple submitters Spastic paraplegia
• p.Trp1861Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Trp1946Arg Multiple submitters Spastic paraplegia
• p.Trp2818Ter Multiple submitters Spastic paraplegia
• p.Tyr157fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Tyr1637Ter Multiple submitters Spastic paraplegia
• p.Tyr1670fs Multiple submitters Spastic paraplegia
• p.Tyr2015_Lys2017delinsTer Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Tyr3499Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Tyr359fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Tyr3908Ter Multiple submitters Spastic paraplegia
• p.Tyr4201Ter Multiple submitters Spastic paraplegia
• p.Tyr4225fs Multiple submitters Inborn genetic diseases
• p.Val1104fs Multiple submitters Spastic paraplegia
• p.Val543fs Multiple submitters Spastic paraplegia
• p.Val815fs Multiple submitters Abnormal central motor function

Likely pathogenic 475

Showing the top 300 by review status; the full set is in the sitemap.

• c.2093+1G>A Multiple submitters Charlevoix-Saguenay spastic ataxia
• c.604+1G>A Multiple submitters Spastic paraplegia
• p.Arg1645Gln Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Arg4331Gln Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Asn1508fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Asn1616fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Asp1582His Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln3698Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Gln891fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Glu1653Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Glu4152Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu117fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Leu4451Pro Multiple submitters Spastic paraplegia
• p.Lys603Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Phe194fs Multiple submitters SACS-related disorder
• p.Pro1075fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Pro4154fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Pro957fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Ser963fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Thr3284fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Trp1156fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Trp2897Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Trp4450Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Tyr4428Ter Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Val3294fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• p.Val4175fs Multiple submitters Charlevoix-Saguenay spastic ataxia
• c.172-2A>G Single submitter Charlevoix-Saguenay spastic ataxia
• c.2093+2T>A Single submitter Charlevoix-Saguenay spastic ataxia
• c.2185+1del Single submitter Charlevoix-Saguenay spastic ataxia
• c.2185+1G>T Single submitter Charlevoix-Saguenay spastic ataxia
• c.2186-2A>G Single submitter Charlevoix-Saguenay spastic ataxia
• c.457+1del Single submitter Charlevoix-Saguenay spastic ataxia
• c.457+1G>A Single submitter Charlevoix-Saguenay spastic ataxia
• c.458-2A>C Single submitter Spastic paraplegia
• c.58_511del Single submitter Charlevoix-Saguenay spastic ataxia
• c.604+1_604+4del Single submitter Charlevoix-Saguenay spastic ataxia
• c.605-1G>T Single submitter SACS-related disorder
• p.Ala1373Glu Single submitter hereditary spastic paraplegia
• p.Ala1373Ser Single submitter hereditary spastic paraplegia ⚠
• p.Ala155fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala2171fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala248fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala2658fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala3927fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala4026Asp Single submitter
• p.Ala4506fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg177Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg1783Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg1839Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg1992fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg2269Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg2502fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg2792fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg3785fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg3788fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg3970fs Single submitter Spastic paraplegia
• p.Arg4374fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg4452fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg486fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg730fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg742fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn2760fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn3029fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn3125_Leu3126insTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn3487fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn3754fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn376fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn4371fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn4463fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn673fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn785fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn931fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp1582Tyr Single submitter Spastic paraplegia
• p.Asp1966fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2003fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2156fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp236fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2555Gly Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2753fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2938fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2973fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp3762fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp3983fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp4464Val Single submitter Spastic paraplegia
• p.Asp4497fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp472fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp657fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp968fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys1679fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys1679Ter Single submitter
• p.Cys1823fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys1823Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys1846fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys2255fs Single submitter
• p.Cys2271fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys2869fs Single submitter
• p.Cys3429Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys4049Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys4126Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys643Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Cys991Arg Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln112Ter Single submitter SACS-related disorder
• p.Gln1249fs Single submitter
• p.Gln1316Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln152Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln1628fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln1651fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln1923fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln2044Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln219fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln2373fs Single submitter
• p.Gln281fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln3598Ter Single submitter
• p.Gln3729Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln388fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln388Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln4356Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln4515Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln546Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln726Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln845Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1032fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1203Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1480Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu167Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu174Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1765Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1898Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1936fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1965fs Single submitter SACS-related disorder
• p.Glu1974Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu2048Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu2299Ter Single submitter SACS-related disorder
• p.Glu239Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu2442Ter Single submitter
• p.Glu2526fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu2745fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3147Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3179fs Single submitter
• p.Glu3512fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3549fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3549Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3731fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3764Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3810Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu3831Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu4211fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu4213fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu4233Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu4305Ter Single submitter
• p.Glu555Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu573fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu645Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu723fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly1257Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly188fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly188Glu Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly2090Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly209fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly2625Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly2664Val Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly2885fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly3066fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly4061fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly4125Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly598fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly65fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gly86fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.His1227Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.His1382fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.His2859fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.His3130fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.His4337Asp Single submitter Spastic paraplegia
• p.His4466fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.His951fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1391fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1571fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1572_Met1573insTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1588fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1713delinsLysAsnAsnTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile175fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile2802fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile3098fs Single submitter
• p.Ile3680fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile403fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile4193fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile4236fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile531fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile864fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile967fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1053_Phe1054insTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1135Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu132fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1631_Thr1632insTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu185fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1876Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1922Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu1937fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu2256fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu2607fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu2670fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu2871fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu2913Ter Single submitter
• p.Leu295Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu2974fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3102fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3218Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3222fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu329fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3306fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3494Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3525Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3639fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3648Pro Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3650fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3654Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3761fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu3780Pro Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu393Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu426fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu4519fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu4541fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu460fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu556Pro Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu614fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu655_Ser656insTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu877Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu896fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Leu944fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys115Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys1229Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys130Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys1595fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys1811Ter Single submitter
• p.Lys181fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys1831fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys2122fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys2334Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys234fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys238Ter Single submitter
• p.Lys2440fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys2482delinsProLeuTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys2691Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys2930fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys3059Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys3195fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys3204fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys3245fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys3408fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys3747_Val3748insTer Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys4287fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Lys4326Glu Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met1186fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met1311Lys Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met148fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met1573fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met1578fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met1Val Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met2545fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met2739fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met3103fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met3368fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met3551fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met3736fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met4170fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met4173fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Met800fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe1535fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe2690fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe296fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe299fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe3027fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe3518fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe3548fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe3924fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe3965fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe4352fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe447fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Phe524fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro150fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro166fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro274Leu Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro2864fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro2948fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro3823fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro3823Thr Single submitter Spastic paraplegia
• p.Pro4161fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro4435fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Pro605Leu Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser1269fs Single submitter
• p.Ser1475Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser1562fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser1801Ter Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser1835fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser208fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser2640Pro Single submitter Spastic paraplegia
• p.Ser2711fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser2827fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser298fs Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ser3197fs Single submitter Charlevoix-Saguenay spastic ataxia

Conflicting classifications of pathogenicity 527

Showing the top 300 by review status; the full set is in the sitemap.

• c.21-5C>T Single submitter hereditary spastic paraplegia
• c.21-6C>A Single submitter Spastic paraplegia
• c.259+9T>C Single submitter Spastic paraplegia
• c.260-10C>T Single submitter Spastic paraplegia
• c.345+14C>T Single submitter Spastic paraplegia
• c.346-3T>A Single submitter Spastic paraplegia
• c.346-5G>A Single submitter Inborn genetic diseases
• c.*821A>G Single submitter hereditary spastic paraplegia
• p.Ala1182Val Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala1290Ser Single submitter Spastic paraplegia
• p.Ala1373Pro Single submitter Spastic paraplegia ⚠
• p.Ala1373Val Single submitter Spastic paraplegia ⚠
• p.Ala149= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala149Val Single submitter Spastic paraplegia
• p.Ala162Thr Single submitter Spastic paraplegia
• p.Ala1635Val Single submitter Spastic paraplegia ⚠
• p.Ala1723= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala1790Thr Single submitter Spastic paraplegia ⚠
• p.Ala1968Val Single submitter Spastic paraplegia
• p.Ala2318Thr Single submitter Inborn genetic diseases ⚠
• p.Ala2326= Single submitter Spastic paraplegia
• p.Ala2367= Single submitter Spastic paraplegia
• p.Ala2367Val Single submitter Inborn genetic diseases
• p.Ala2510Thr Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala2558Val Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ala2655Val Single submitter Spastic paraplegia
• p.Ala303= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala3323Val Single submitter Inborn genetic diseases
• p.Ala3376Thr Single submitter Inborn genetic diseases ⚠
• p.Ala3386= Single submitter Spastic paraplegia
• p.Ala3661Thr Single submitter Spastic paraplegia
• p.Ala3661Val Single submitter Spastic paraplegia
• p.Ala3770Gly Single submitter Spastic paraplegia ⚠
• p.Ala3906Val Single submitter Inborn genetic diseases ⚠
• p.Ala3927Val Single submitter Spastic paraplegia
• p.Ala3994Val Single submitter Spastic paraplegia
• p.Ala433Pro Single submitter Spastic paraplegia ⚠
• p.Ala4565Asp Single submitter Spastic paraplegia ⚠
• p.Ala538Val Single submitter Spastic paraplegia ⚠
• p.Ala616Pro Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ala629Thr Single submitter Inborn genetic diseases ⚠
• p.Ala629Val Single submitter Spastic paraplegia ⚠
• p.Ala639= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ala719Val Single submitter Inborn genetic diseases ⚠
• p.Arg1575Gln Single submitter Inborn genetic diseases
• p.Arg1575Trp Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Arg1682Lys Single submitter Spastic paraplegia
• p.Arg1877Gln Single submitter Spastic paraplegia
• p.Arg1929Trp Single submitter Spastic paraplegia ⚠
• p.Arg2093His Single submitter Spastic paraplegia
• p.Arg2112Ser Single submitter Spastic paraplegia
• p.Arg2166His Single submitter Inborn genetic diseases ⚠
• p.Arg2214Cys Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg2214His Single submitter Spastic paraplegia
• p.Arg2214Leu Single submitter Inborn genetic diseases
• p.Arg2383Cys Single submitter Spastic paraplegia
• p.Arg2383His Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg2425= Single submitter Spastic paraplegia
• p.Arg2426Gln Single submitter Inborn genetic diseases
• p.Arg2665Cys Single submitter Inborn genetic diseases ⚠
• p.Arg2703His Single submitter Spastic paraplegia ⚠
• p.Arg2731Cys Single submitter Spastic paraplegia
• p.Arg2731His Single submitter Spastic paraplegia
• p.Arg276His Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Arg2898Cys Single submitter Inborn genetic diseases
• p.Arg2898His Single submitter Inborn genetic diseases
• p.Arg2932Gln Single submitter Inborn genetic diseases
• p.Arg2932Trp Single submitter hereditary spastic paraplegia
• p.Arg2967His Single submitter Spastic paraplegia
• p.Arg2991Cys Single submitter Spastic paraplegia ⚠
• p.Arg2991His Single submitter Spastic paraplegia
• p.Arg2997Gln Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg3048Cys Single submitter Spastic paraplegia
• p.Arg3120Cys Single submitter Inborn genetic diseases
• p.Arg3120His Single submitter Inborn genetic diseases
• p.Arg3120Leu Single submitter Spastic paraplegia
• p.Arg3184Cys Single submitter Spastic paraplegia
• p.Arg3184His Single submitter Spastic paraplegia
• p.Arg3419Cys Single submitter Spastic paraplegia
• p.Arg3419His Single submitter Spastic paraplegia
• p.Arg345Trp Single submitter Inborn genetic diseases
• p.Arg3636Gln Single submitter Spastic paraplegia
• p.Arg3788His Single submitter Inborn genetic diseases
• p.Arg3859Cys Single submitter Spastic paraplegia
• p.Arg3859His Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg3875His Single submitter hereditary spastic paraplegia
• p.Arg3896= Single submitter Spastic paraplegia
• p.Arg3903Gln Single submitter Inborn genetic diseases
• p.Arg401Gln Single submitter Spastic paraplegia
• p.Arg4058Gly Single submitter Inborn genetic diseases
• p.Arg4078Gly Single submitter Spastic paraplegia
• p.Arg4255= Single submitter Spastic paraplegia
• p.Arg4431Met Single submitter Inborn genetic diseases
• p.Arg4448= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg4448Cys Single submitter Inborn genetic diseases
• p.Arg4537Lys Single submitter Spastic paraplegia ⚠
• p.Arg515Cys Single submitter Inborn genetic diseases ⚠
• p.Arg632Trp Single submitter Charlevoix-Saguenay spastic ataxia
• p.Arg636Gln Single submitter Spastic paraplegia ⚠
• p.Arg636Trp Single submitter Inborn genetic diseases
• p.Arg728Gly Single submitter Spastic paraplegia ⚠
• p.Arg745His Single submitter Spastic paraplegia
• p.Arg88Gln Single submitter Spastic paraplegia
• p.Arg929His Single submitter Spastic paraplegia ⚠
• p.Arg976Cys Single submitter Spastic paraplegia
• p.Arg976His Single submitter Spastic paraplegia
• p.Arg976Ser Single submitter Spastic paraplegia ⚠
• p.Asn1025Ile Single submitter Spastic paraplegia
• p.Asn1067Ser Single submitter Spastic paraplegia ⚠
• p.Asn1094= Single submitter Spastic paraplegia
• p.Asn1586Ser Single submitter hereditary spastic paraplegia
• p.Asn2023= Single submitter Spastic paraplegia
• p.Asn2380Lys Single submitter Inborn genetic diseases ⚠
• p.Asn2860Ser Single submitter Spastic paraplegia
• p.Asn3078Asp Single submitter Spastic paraplegia ⚠
• p.Asn3394Ser Single submitter Spastic paraplegia ⚠
• p.Asn3683= Single submitter Spastic paraplegia
• p.Asn3683Ser Single submitter Spastic paraplegia ⚠
• p.Asn3750Ser Single submitter Spastic paraplegia ⚠
• p.Asn3901= Single submitter Spastic paraplegia
• p.Asn4217Asp Single submitter Spastic paraplegia ⚠
• p.Asn4217Ser Single submitter Spastic paraplegia ⚠
• p.Asn4301Ser Single submitter Spastic paraplegia ⚠
• p.Asn4470Ser Single submitter Spastic paraplegia
• p.Asn4521= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn4549Asp Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asn4573His Single submitter Spastic paraplegia
• p.Asn675Ser Single submitter Spastic paraplegia ⚠
• p.Asn890Ser Single submitter Spastic paraplegia ⚠
• p.Asn931Tyr Single submitter Inborn genetic diseases
• p.Asp1346His Single submitter Spastic paraplegia ⚠
• p.Asp147His Single submitter Spastic paraplegia
• p.Asp1948Asn Single submitter Spastic paraplegia
• p.Asp1950Asn Single submitter Spastic paraplegia
• p.Asp2003Val Single submitter Spastic paraplegia
• p.Asp2086Asn Single submitter Inborn genetic diseases
• p.Asp2128Gly Single submitter Inborn genetic diseases ⚠
• p.Asp2193Asn Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp2228Gly Single submitter Inborn genetic diseases ⚠
• p.Asp2408Gly Single submitter Inborn genetic diseases ⚠
• p.Asp2753Gly Single submitter Spastic paraplegia
• p.Asp302Glu Single submitter Inborn genetic diseases ⚠
• p.Asp315Gly Single submitter Spastic paraplegia
• p.Asp324= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp324Glu Single submitter Spastic paraplegia
• p.Asp3260His Single submitter Spastic paraplegia
• p.Asp3269Asn Single submitter Spastic paraplegia ⚠
• p.Asp3402Gly Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp3913His Single submitter Spastic paraplegia
• p.Asp3926Asn Single submitter Spastic paraplegia ⚠
• p.Asp408= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp4216Gly Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp4346Asn Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp4369Gly Single submitter Spastic paraplegia
• p.Asp829= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp830Asn Single submitter Charlevoix-Saguenay spastic ataxia
• p.Asp971Gly Single submitter Spastic paraplegia
• p.Cys1821Arg Single submitter Spastic paraplegia ⚠
• p.Cys1821Tyr Single submitter Spastic paraplegia
• p.Cys2271Trp Single submitter Inborn genetic diseases ⚠
• p.Cys2514fs Single submitter Spastic paraplegia
• p.Cys3082Tyr Single submitter Inborn genetic diseases ⚠
• p.Cys3231Phe Single submitter Inborn genetic diseases ⚠
• p.Cys360Tyr Single submitter Spastic paraplegia
• p.Cys4420Phe Single submitter Inborn genetic diseases ⚠
• p.Cys638Gly Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Cys638Tyr Single submitter Spastic paraplegia ⚠
• p.Gln1143Glu Single submitter Spastic paraplegia ⚠
• p.Gln1143Lys Single submitter Spastic paraplegia ⚠
• p.Gln1652Arg Single submitter Spastic paraplegia
• p.Gln2137Glu Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln2779Leu Single submitter Spastic paraplegia
• p.Gln2793= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Gln3316Pro Single submitter hereditary spastic paraplegia
• p.Gln3597Arg Single submitter Spastic paraplegia
• p.Gln4415Arg Single submitter Spastic paraplegia ⚠
• p.Gln558Glu Single submitter Inborn genetic diseases
• p.Gln860= Single submitter hereditary spastic paraplegia
• p.Gln936Lys Single submitter Spastic paraplegia ⚠
• p.Glu1095Lys Single submitter Spastic paraplegia
• p.Glu1634Gln Single submitter Charlevoix-Saguenay spastic ataxia
• p.Glu1807Lys Single submitter Spastic paraplegia
• p.Glu2028Asp Single submitter Spastic paraplegia ⚠
• p.Glu2117Lys Single submitter Spastic paraplegia
• p.Glu2280Asp Single submitter Spastic paraplegia ⚠
• p.Glu2331Asp Single submitter Inborn genetic diseases ⚠
• p.Glu2350Gly Single submitter Inborn genetic diseases
• p.Glu2384Lys Single submitter Spastic paraplegia
• p.Glu2430Lys Single submitter Spastic paraplegia
• p.Glu2560Gly Single submitter Spastic paraplegia ⚠
• p.Glu3241Asp Single submitter Spastic paraplegia
• p.Glu3495= Single submitter Spastic paraplegia
• p.Glu4343Lys Single submitter Spastic paraplegia
• p.Glu455Lys Single submitter Spastic paraplegia ⚠
• p.Glu831Gly Single submitter Spastic paraplegia ⚠
• p.Glu833Lys Single submitter Spastic paraplegia
• p.Glu881Asp Single submitter Spastic paraplegia ⚠
• p.Glu917Val Single submitter Spastic paraplegia ⚠
• p.Gly1116Ser Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Gly1169Ala Single submitter Spastic paraplegia ⚠
• p.Gly1257Arg Single submitter Inborn genetic diseases
• p.Gly139Glu Single submitter Spastic paraplegia ⚠
• p.Gly1513Ala Single submitter Spastic paraplegia
• p.Gly171Ser Single submitter Spastic paraplegia ⚠
• p.Gly2020Glu Single submitter Inborn genetic diseases
• p.Gly2664Arg Single submitter Spastic paraplegia ⚠
• p.Gly2772Ala Single submitter Spastic paraplegia
• p.Gly325Arg Single submitter Spastic paraplegia ⚠
• p.Gly325Glu Single submitter Inborn genetic diseases
• p.Gly3721Ser Single submitter Inborn genetic diseases
• p.Gly4044Arg Single submitter Inborn genetic diseases
• p.Gly4222Glu Single submitter Spastic paraplegia ⚠
• p.Gly4425Arg Single submitter Spastic paraplegia
• p.Gly469Asp Single submitter Spastic paraplegia
• p.His1006Arg Single submitter Spastic paraplegia ⚠
• p.His1139= Single submitter Spastic paraplegia
• p.His1305= Single submitter Charlevoix-Saguenay spastic ataxia
• p.His1382Arg Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.His1587Arg Single submitter Spastic paraplegia ⚠
• p.His1681= Single submitter Spastic paraplegia
• p.His1768Tyr Single submitter Charlevoix-Saguenay spastic ataxia
• p.His1769Arg Single submitter Inborn genetic diseases
• p.His1915Arg Single submitter Charlevoix-Saguenay spastic ataxia
• p.His1953Tyr Single submitter Inborn genetic diseases ⚠
• p.His1969Arg Single submitter Spastic paraplegia ⚠
• p.His2859= Single submitter Spastic paraplegia
• p.His2986= Single submitter Spastic paraplegia
• p.His3366Tyr Single submitter Spastic paraplegia
• p.His4021= Single submitter Spastic paraplegia
• p.His4345Arg Single submitter Spastic paraplegia
• p.His463Asn Single submitter Spastic paraplegia
• p.His716= Single submitter Spastic paraplegia
• p.His899Asp Single submitter Inborn genetic diseases ⚠
• p.His951Tyr Single submitter Inborn genetic diseases ⚠
• p.Ile1251Thr Single submitter Spastic paraplegia
• p.Ile1339Leu Single submitter hereditary spastic paraplegia ⚠
• p.Ile1419Val Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile1426Val Single submitter Spastic paraplegia ⚠
• p.Ile1538Val Single submitter Spastic paraplegia
• p.Ile1700Thr Single submitter Inborn genetic diseases ⚠
• p.Ile1967Thr Single submitter Inborn genetic diseases
• p.Ile200Val Single submitter Spastic paraplegia
• p.Ile2126Thr Single submitter Spastic paraplegia ⚠
• p.Ile2173Thr Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile2187= Single submitter Spastic paraplegia
• p.Ile2198Thr Single submitter Inborn genetic diseases ⚠
• p.Ile2253Thr Single submitter Inborn genetic diseases ⚠
• p.Ile2260Val Single submitter Spastic paraplegia
• p.Ile2332Val Single submitter Inborn genetic diseases ⚠
• p.Ile2407Val Single submitter Spastic paraplegia ⚠
• p.Ile2428Val Single submitter Spastic paraplegia
• p.Ile2436Leu Single submitter Spastic paraplegia
• p.Ile2436Val Single submitter Spastic paraplegia
• p.Ile2451Met Single submitter Spastic paraplegia ⚠
• p.Ile2575= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile2575Met Single submitter Inborn genetic diseases
• p.Ile2749Val Single submitter Spastic paraplegia
• p.Ile2752Val Single submitter Spastic paraplegia
• p.Ile3011Val Single submitter Inborn genetic diseases ⚠
• p.Ile3084Thr Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ile3098Val Single submitter Spastic paraplegia ⚠
• p.Ile3355Arg Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ile3355Val Single submitter Inborn genetic diseases
• p.Ile3423Thr Single submitter Spastic paraplegia
• p.Ile3485Thr Single submitter Inborn genetic diseases
• p.Ile3526Val Single submitter Spastic paraplegia ⚠
• p.Ile356Leu Single submitter Spastic paraplegia ⚠
• p.Ile356Thr Single submitter Spastic paraplegia
• p.Ile356Val Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ile3570Thr Single submitter Spastic paraplegia
• p.Ile3589Thr Single submitter Inborn genetic diseases
• p.Ile3589Val Single submitter Spastic paraplegia ⚠
• p.Ile3607= Single submitter Spastic paraplegia
• p.Ile3627Ser Single submitter Spastic paraplegia
• p.Ile3632Met Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile3664Thr Single submitter Inborn genetic diseases
• p.Ile3680Thr Single submitter Inborn genetic diseases ⚠
• p.Ile3706Val Single submitter Spastic paraplegia ⚠
• p.Ile3758_Thr3759delinsMet Single submitter Spastic paraplegia
• p.Ile3776Thr Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile3848del Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile3962Leu Single submitter Spastic paraplegia
• p.Ile4018Thr Single submitter Spastic paraplegia ⚠
• p.Ile4121Leu Single submitter Inborn genetic diseases
• p.Ile4193Asn Single submitter Inborn genetic diseases
• p.Ile419Val Single submitter Inborn genetic diseases ⚠
• p.Ile4205Val Single submitter Spastic paraplegia
• p.Ile4206= Single submitter Spastic paraplegia
• p.Ile420Thr Single submitter Inborn genetic diseases ⚠
• p.Ile4306Val Single submitter Spastic paraplegia ⚠
• p.Ile4347Val Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ile513Val Single submitter Spastic paraplegia ⚠
• p.Ile531= Single submitter Charlevoix-Saguenay spastic ataxia
• p.Ile747Thr Single submitter Inborn genetic diseases
• p.Ile807Val Single submitter Inborn genetic diseases ⚠
• p.Ile859Val Single submitter Inborn genetic diseases ⚠
• p.Ile868Val Single submitter Spastic paraplegia ⚠
• p.Ile926Val Single submitter Spastic paraplegia ⚠
• p.Ile930Val Single submitter Charlevoix-Saguenay spastic ataxia ⚠
• p.Ile938= Single submitter Spastic paraplegia